Read Victoria`s inspirational story on page 15

Transcription

Summer 2013 No. 73
Read Victoria’s inspirational story
on page 15
Inside this issue
Group News including Jeans for Genes Day | Fundraising |
Members’ Letters | Our PGD Journey | Advocacy
Unique’s Chair of Trustees
Meet Sophie
Dear Families,
After 11 years of having a Unique boy and hardly meeting anyone
with even a similar chromosome disorder “in the flesh”, we have had
the most fantastic few months making up for lost time. I went to
Chicago in June to meet American Trisomy 9 families. Then last
Saturday we met up with ten British families also with chromosome
9 disorders (not exact matches – we are still too rare for that!). The
first event in the US was a really carefully planned, parent-run
weekend in a hotel, with seminars and organised social activities.
The UK one was a spontaneous Facebook chromosome 9 page event:
a bunch of us said “Why don’t we get together?” We picked a
children’s farm with a cafe in the middle of the UK and a date, and
just pitched up on the day to share sandwiches in the sun. Both
events were enormous fun and have given me much food for thought
about my own child after seeing other families with their kids. More
importantly I feel that I have made new friends for life.
In March I attended Unique’s first regional family day in East Anglia.
After a morning training session for local contacts Unique laid on a
big lunch and children’s party in the afternoon. I had a wonderful
time there too because, although our kids all have different
chromosome disorders, we share so much experience in common.
Talking to each other about bringing up our children, education,
health issues, in an atmosphere in which no one feels they need to
explain or apologise for their children is wonderfully relaxing.
After such a great day, I am really excited that Unique has now got
the funding to hold similar regional events in different parts of the
UK (West Midlands and the North East to start).
And if you can’t make those gatherings, wherever you are in the
world, I can’t recommend enough a quick message on the Unique
Facebook cafe or an email to your fellow local members or Unique
members with similar chromosome disorders (ask Beverly for an
updated list) and just meet up! It is so worth it.
Sophie
A message from
Beverly, Unique’s CEO
Dear Friends
Most of you will know about Unique’s frontline work from your
experiences on joining the group – our email and telephone
helplines, our magazine and welcome pack, our social networking
sites and our family matching service (thanks to our comprehensive
database). But there is so much more work going on in the
background. For instance, just in the last month I have participated
in an invitation-only satellite workshop at the conference of the
European Society of Human Genetics in Paris where some very
eminent geneticists and I discussed “How to Reach European
Consensus on Reporting Unsolicited Findings and Unknown
Variation” in DNA sequencing. Later in the month Sarah and I
manned an awareness raising stand at the European Cytogeneticists
Association annual conference in Dublin where we had a tremendous
response from geneticists from across Europe and beyond who
learned about our work and about all the disorder-specific guides we
produce, including all the translations we publish.
I have also been working hard, with some very
influential doctors and other health
professionals, to give the patients’
perspective in developing the new UK plan
for rare diseases, which should be ready
by the end of the year. I represented
Unique at the excellent Genetic Alliance
UK annual conference where we heard
about advances in genetics and genomics
– from the RAPID project (on non-invasive
2
prenatal testing) to updates on preimplantation genetic diagnosis
(PGD) – as well as the proposed new all-England congenital
anomalies registry. I even gave a 90 minute presentation across the
internet on the challenges of rare chromosome disorders and the
work of Unique to a group of prospective scientists and geneticists at
Geisinger Hospital in Pennsylvania! This is just a snapshot of our
activities to raise the profile of rare chromosome disorder and the
challenges they bring, as well as the work of Unique. We are trying
really hard to raise awareness on your behalf.
On a separate note, I am sad to have to tell you that paediatrician Dr
Jenny Hague will be leaving her part-time Unique Information
Officer post at the end of August but I am delighted not only that she
will be volunteering for us in the future but most importantly she will
be training to be a Clinical Geneticist! Jenny is our first professional
« graduate « and what a wonderful insight into the challenges we as
families face she will take with her in her new role. We are currently
recruiting Jenny’s replacement and hopefully will have more news in
our next magazine. Watch this space!
Kindest regards
Beverly
Front cover: Victoria Fearnley Atwell; aged 19 years; page 15
www.rarechromo.org
GROUP NEWS
Two Unique Family Conferences in 2014!
Following the success of our family conference weekend last
year, we are planning not one but two similar events for next
year! The aim is to bring together as many Unique families as
possible (including their children) with geneticists, psychologists,
behavioural specialists and other therapists. The conferences
will further our collective knowledge and understanding but the
most important things is for families to meet and get to know
others living with rare chromosome disorders.
The first event will be held in a hotel in Blackpool over the
weekend of 16th–18th May 2014, aimed primarily at our member
families in the North of England, North Wales and Scotland. The
second will be for families in the ‘South’ (including South Wales,
the Midlands and East Anglia) in October 2014 (date and venue
TBD).
We will provide a crèche at each event, run by experienced staff
supported by CRB-checked volunteers. A variety of speakers will
give presentations and workshops on relevant topics and
geneticists will run 1:1 clinics with parents, answering questions
specific to their child’s diagnosis. Cytogeneticists and molecular
geneticists will be asked to give an interactive hands-on
demonstrations of analysing chromosomes and DNA, helping
parents to understand genetic tests. There will also be a
children’s entertainer and disco for all.
We’ll be sending out information soon so keep an eye out for it!
We hope to see you at one of the events. These events are being
made possible by generous funding from the Jeans for Genes
Day appeal.
Wear Jeans, Change Lives
We are so delighted to
announce that we will receive
a grant from Jeans for Genes
Day this year, enabling us to
hold two ‘Regional Reach
Out’ events in the North and South of England over the
coming year. These events will be invaluable in helping
those families who are unable to travel great distances to
still benefit from the opportunity to meet other families
and share experiences and management techniques.
Jeans for Genes Day is a fantastically simple concept and
without their help, charities like ours would struggle to
provide events and projects that offer direct support to
families affected by genetic conditions across the UK. They
hope that by raising as much money as possible on their
fundraising day, they will be able to increase the number of
grants they provide to disorder-specific charities like ours.
Let’s help them reach their £2 million goal!
Thousands of adults and children across the UK pay £2 /£1
to wear their jeans to work or school on Jeans for Genes
Day. This year, Jeans for Genes Day 2013 will be held on
Friday 20 September.
Please join in the fun this year and invite your friends,
family, and colleagues to join us. You don’t have to just stop
at wearing your jeans – you could make cakes decorated in
denim icing, dress in fancy dress, offer denim manicures,
go for triple denim… the list goes on!
With your support, we can help Jeans for Genes Day
change the world for children with genetic disorders. Sign
up to take part at www.JeansforGenesDay.org/register.
www.rarechromo.org
New Unique Practical Guides
for Parents
We have some new editions to the Unique guides family!
Practical guides for our parents include:
• Holidays, short breaks, travel insurance
• Grants and funding
• Outdoor bikes, leisure and sensory toys
• Sleep
• Communication
They can all be found in the information section of our
website. Alternatively if you would like one emailed to you,
please email [email protected]. If you live in the UK
and have no way to print the guides yourself, then please
send an A5 sized SAE with a large letter stamp on it and a
note to tell us which one you want, to:
Unique, PO Box 2189, Caterham, Surrey, CR3 5GN
The leaflets are geared mainly towards UK families but
there will be sections that will be relevant to all.
Survey of Unique Families’ Experiences of
Diagnosis and Genetic Counselling in the UK
between April 2003 and 2013
In 2003, we asked all our families in the UK about their
experiences of diagnosis and genetic counselling. We were able
to feed back to geneticists, paediatricians and other
professionals the incredibly valuable information we were given
by families. We are now repeating the survey with those of you
whose children, or yourselves, have been diagnosed with a rare
chromosome disorder in the UK between April 2003 and the
present date to capture your experiences and to see how and if
things have changed in the intervening years. We will circulate
the collective results as widely as we possibly can. This is a
wonderful opportunity for us to let professionals in the UK know
what they are doing well and to suggest ways in which the
services they provide might be improved. As I write this at the
beginning of July over 500 of you have completed the survey so
far, which is brilliant. However, we would really like to at least
reach the nearly 600 returned surveys we had last time around. It
is very important to be able to report the experiences of a large
number of families. The families that have reported so far are
highlighting important areas for improvement as well as showing
trends over time.
We would be very grateful if you would please fill in
this survey by 18th AUGUST 2013. Please go to
www.surveymonkey.com/s/uniquesurvey to access the survey.
It should take about 15 to 30 minutes to complete. You do not
have to give your name and contact details if you do not want to
but, if you do, you will be entered into a prize draw for one of five
£20 Amazon vouchers. The information you give will be analysed
by Professor Ala Szczepura and Dr Deborah Biggerstaff of the
Division of Health Sciences, Warwick Medical School, University
of Warwick who helped us to analyse the results of the survey in
2003. Please feel free to give any information or feedback at the
end of the survey. All information you give us will remain
anonymous and no information will be used which could identify
you personally.
If you have any questions or would like to talk about the survey,
please contact Beverly on 01883 330766 or email her on
[email protected]. Thank you very much for your help.
3
GROUP NEWS
‘World first’ family guide to DNA Sequencing
We are very pleased to announce that we have places in
this year’s Great Birmingham Run in October. If you would
like to run, or know someone who might be interested in
running, to raise funds for Unique, please contact Craig on
[email protected] now! The Bupa Great Birmingham
Run, now in its second year, is the biggest half marathon in
the Midlands. The course takes in some of the city’s most
iconic sights including the Bullring, the Cadbury’s factory
in Bourneville and Edgbaston cricket ground. Live music
from ‘band on the run’ keep you motivated every step of the
way and hundreds of supporters turn out to cheer finishers
across the line on Broad Street in the heart of the city
centre. Join thousands of others, both serious runners and
those running for fun and show your support for Unique.
Two more Unique local events coming up
Following the success of our first social event for local families
held in East Anglia earlier this year, we are now planning two
similar events. They will take place in the West Midlands in
October this year and in the North East in March next year. The
events are free of charge and will take place on Saturdays in
accessible, family-friendly locations.
Each event will begin with a short update and training session for
our local contacts in the area, after which local families and their
children will join us for lunch and a social event, including a
children’s entertainer, disco, balloon modelling and face
painting. We’re hoping the Unique’s mascot, Gene will put in an
appearance too! It’s a great opportunity to meet and get to know
others in your area as well as your Unique local contacts and
some of the Unique team. We want everyone, especially the
children, to relax and have some fun.
Places will be limited and we’ll be sending out some more
information soon so make sure you act fast when you get it and
we hope to see you there! These are the latest events in a series
across the country so don’t worry if you’re not in the West
Midlands or North East, we hope there will be an event near you
soon!
Unique Pin
Badges and Trolley
Coin Key Rings
We have been bowled over
by the enthusiastic response
to our new Unique pin
badges and trolley coin key
rings. The badge looks great
and will prompt questions about Unique
wherever you go! The trolley coin key
rings are a really practical idea. You’ll
never be stuck again for a coin at the
supermarket or in the changing room
at your sports club or swimming pool.
To find out how to order yours, please
look at pages 30 and 31.
4
The first family guide to DNA
sequencing, the latest and most
detailed possible test for
genetic disorders, has just been
published by Unique. Spelling
out in plain, jargon-free
language what this up-andcoming test can offer families
with a child with an
undiagnosed genetic disorder,
DNA Sequencing puts parents
and professionals in charge of
the facts. The guide breaks
new ground in explaining
simply and clearly how
sequencing examines an
individual’s genetic code letter by letter, allowing many more
families to be given a reason for their child’s disorder. It sets out
the key benefits of sequencing such as many more and better
diagnoses; diagnoses where there are no diagnostic clues; future
health mapping; and better informed management, treatment,
education and support for the child. Children most likely to
benefit from the new technology are those with serious
undiagnosed disorders likely to be caused by a genetic change so
tiny as to be missed by today’s routine technologies such as
karyotyping (examining the chromosomes under a microscope)
or array CGH, which detects smaller changes such as
microdeletions and microduplications. Formerly called next
generation sequencing, the new technology is already on offer to
thousands of children taking part in research projects, and now
looks likely to be rolled out in the clinic. DNA sequencing
technology is available to 12,000 children enrolled in the
Deciphering Developmental Disorders (DDD) project. Dr Caroline
Wright, director of DDD, said the guide ‘covers all the key points’.
She reviewed the guide together with Cambridge clinical
geneticist Dr Helen Firth. Unique families who trialled the guide
commented: ‘Both informative and extremely helpful.’
Sequencing the first person’s DNA took 13 years and cost £2
billion. Using DNA technology, you can sequence a person’s DNA
today in a few days for a few thousand pounds, and the costs are
still falling. Predicting that many families now and in the future
will soon be offered the new genetic test, Unique identified a
need for an information guide that explains the new technology
in an accurate yet family-friendly way. DNA Sequencing is
available to families and professionals to download as an
illustrated 8-page booklet from the Unique website. To view and
download the guide, paste www.rarechromo.org/information/
Other/DNA%20 sequencing%20FTNW.pdf into your browser.
DNA Sequencing is free of charge. For more information, please
contact Dr Sarah Wynn who compiled the guide, on
[email protected] or 0203 211 1098. From 15th July to
1st September 2013, please contact Dr Beverly Searle on
[email protected] or 01883 330766. The publication of this
guide was made possible through the generous support of
The Worshipful Company of Grocers.
STOP PRESS: The DDD team will be doing a series of bike
rides all around the UK on 29th September to raise funds
and awareness for Unique and SWAN UK – more info on our
website and Facebook pages very soon. Their Virgin Money
Giving page is at http://uk.virginmoneygiving.com/
team/DDD. Please spread the word and support them!
www.rarechromo.org
FUNDRAISING
As a small charity, we are able to make sure that
funds raised make a real difference to our services
for those affected by rare chromosome disorders.
Here are some of the ways people have been
fundraising for Unique recently:
April saw the London
Marathon and we were very
fortunate to have 8 runners in
this year’s event. For Hannah
Beecham it was the
culmination of the 500 mile
running challenge she’s been
completing over the past six
months, including marathons
in Amsterdam, Paris, Brighton
and of course London. Well
done on completing the
challenge Hannah! The other
runners who all did such a
brilliant job of fundraising and
representing Unique were
Leighton Byrom, Jordan
O’Keeffe, Richard Leahy, Tim
Fletcher, Richard Weymes,
Alex Moore and Angela
Molloy. Well done and thanks
to you all.
us. Daniel completed the run
in 4 hours 25 minutes and said
he was “proud to do it for such
a great charity”. Also in April,
Ryan Barkle whose cousin
Eddie has a rare chromosome
disorder ran the ‘Shakespeare
Marathon’ in Stratford-UponAvon.
Lots of other people have been
running to raise funds for
Unique. They include: Richard
Grover ran the 33 mile
Marlborough Downs
Challenge, Michelle Smith did
the Aberdeen 10k, Gary Scott
the Great Manchester Run and
Lucie Emerson, Catriona
Durrell and Alison Marrs the
London 10,000. Over in
Ireland, Sarah Wiley and
Graham Hutchings (in red) during the
Manchester-London ride.
Richard Leahy with Bev (right), Edna (centre) and Edna’s daughter, Linda, after the
marathon.
The week before the London
Marathon saw Daniel Watson
run the Brighton Marathon for
Li Yen Ng took part in the
Flora Women’s minimarathon
in Dublin.
Daniel on Brighton Seafront after his
run.
We’ve also had several people
climbing into the saddle to
complete cycling challenges
for Unique. Andy Creed, Mike
Parker, Andrew Maslin and
Aaron Donnell (the ‘Unique
South Downers’) rode the
South Downs Way and Graham
Hutchings whose son Alex has
a rare chromosome disorder
cycled from the velodrome in
Manchester to the Olympic
Park in London overnight. A
brilliant effort from all of
them!
www.rarechromo.org
At the slightly more extreme
end of the scale, a number of
people have been getting
muddy and wet doing obstacle
courses. Dave Smith, uncle of
a Unique member, got some
friends together to do the
Tough Mudder event which
involves ice baths, crawling
through mud and even
electrocution! (Don’t try this at
home folks!). The team
completed the course in 2.5
hours, although were ‘a little
worse for wear’ afterwards
apparently.
Students on the Early Years
course at K College in
Tonbridge, Kent once again
supported Unique with a cake
and craft fair. Our COO Craig
went to meet the students and
tell them all about Unique and
our work. One of our Unique
mums Hazel Hare, whose son
Frazer has a rare
chromosome disorder, is a
lecturer at the College and
very kindly organised the
fundraiser. A big thank you to
Hazel and everyone else
involved.
Also getting her feet wet was
Emma Lofthouse who swam
the 1 mile Great North Swim.
The Tough Mudders before the event…
…AND AFTER!
5
Rat Race Dirty Weekend
Candice Webb, whose niece Bailey has a rare chromosome
disorder and her fiance Chris, wanted to give something
back to Unique after we helped her family understand
Bailey’s diagnosis. They decided to sign up for a 20 mile
assault course with 200 obstacles called the ‘Rat Race Dirty
Weekend’ which took place in May at Burghley House.
Having successfully negotiated it, Candice takes up the
story: ‘It was tough and some of the obstacles were hectic
but it was a lot of fun too! There were a lot of water/lake
crossings which were freezing! The course also had hay
bales piled up to the height of a house, high climbing
frames, a LOT of cargo nets to crawl under and even cars to
climb through! After about the 13–14 mile mark, my knee
started hurting on impact (probably compensating for my
weak ankle from so many netball sprains!), so we
walked/jogged/walked and then speed walked the rest (yes
we did the ‘full mucker’ – all 20miles). The final 2 obstacles
right before the finish line were really high – we had to run
and jump up skateboarding ramps – luckily I had Chris and
another guy to help pull me up. So we were bruised,
battered, soaked, freezing, muddy, chaffed, sore… but it
was all good fun! And we finished in around 5 hours
37 minutes so all in all not bad.
We did this on behalf of my niece Bailey Kinsella and the
many other children and parents out there who need
support from such a worthwhile charity. Genetics is such a
minefield, and no genes are the same which makes it very
difficult to put together specific diagnoses as every case
may have differing side effects/disorders. Bailey’s story
was in a recent Unique magazine.
Unique has put my sister in touch with other families with
similar chromosome deletions as Bailey has, and at least
they can share their experiences and support other
families in the same boat. More importantly, they no longer
feel ALONE (something everyone fears).’
Chris and Candice raised over £1,000 for Unique (over
£1,200 including Gift Aid) which is fantastic. All donations,
however small, make a real difference to our work.
Thanks so much guys, you are both stars!
Young members of the
Wiltshire School of
Gymnastics in Melksham
raised over £1,000 with their
sponsored bounce in June!
Member Kylie Bewley whose
son Dowie has a rare
chromosome disorder,
nominated Unique as the
beneficiary charity and the
team made a fantastic effort to
bounce as much as they could!
Thanks guys!
Also in June, some of the
Unique team took part in the
Around the World in a Day
event at the Hilton on Park
Lane in London. Unique mum
Samantha Hill works at the
Hilton and nominated Unique.
Hotel staff led by Amir Butt
clocked up the kilometres
using the hotel’s gym
equipment and some even ran
around Hyde Park. Sam’s
mum Louise Eldridge also
took part and has fundraised
separately for us by doing an
abseil for Unique in
Folkestone, Kent.
Keith Mcandrew, Robert and
Rosie Chapman and Kat
Scobie organised a social
evening in East Lothian,
Scotland, with guest speakers,
an auction and raffle, raising
over £1500. Thank you all for
your efforts, which are hugely
appreciated.
Coventry & Warwickshire
First, a business forum, made
us the beneficiary of an
auction and raffle at their
recent awards dinner and
raised over £2,500. We were
nominated by Dave Willetts, a
well known actor and
musician who is a friend of
one of our member families.
Thank you for supporting us!
Member Catherine Bell
organised a coffee morning
and music evening at her local
church, St Peter’s in
Ruddington, Nottingham,
raising £1,000 for Unique.
Catherine was interviewed on
BBC Radio Nottingham too,
which was great awarenessraising and at least one new
Unique member Kim Mclellan and her sister Claire
Cielecki took part in ‘The Major Series’ at Bramham House
near Leeds in March, completing the 10k course (search
online to see what the Major Series is all about but suffice
to say it’s muddy!).
Kim says: “it was good fun, very hard though! We decided
to do it originally just for fun but decided why not get
sponsors for doing something like that. We signed up for
the 10k event then soon regretted it! Haha!”
She said she chose Unique because “We felt Unique was
the best charity by far as this was closest to our hearts due
to my daughter having a rare chromosome disorder. They
helped so much when we were first diagnosed and
continue to do so. We wanted to help a great charity in any
way we could. Setting up the online fundraising page was
easier than I expected, took 5 minutes and I could also get
the app for my phone so that kept me updated with
donations.”
A huge thanks to Kim and Claire for doing this. Sounds like
lots of fun…
Craig accepting the cheque from two K College students.
6
www.rarechromo.org
Team Loony Dook
X-Ray Runners
In the Spring 2013 issue of the magazine we told you about Neil Reid and his
“Loony Dook” team. Neil later sent us this photo to show you all! Thanks a million
chaps!
On the 19th May, a team of runners from Safeline X-ray
took part in the Wimpole 10K to raise money for two worthy
charities – The Stroke Association and Unique. We also
showed our support by holding a cake stall on-site with all
sales from the cakes will be going towards The Stroke
Association and Unique, these are really worthy causes and
we were happy that everyone got involved. The charities sit
close to the hearts of Reg Osborne and Dale Godfrey. Here
Dale explains why...
Dale‘s Story “We were given the diagnosis that our
grandson, Lewis, had a chromosome disorder from birth.
We were told it was “Deletion 8q 24.11q 24.22” and even
the geneticist who made the diagnosis couldn’t clearly
explain what the implications of this would be. Upon
contacting Unique, we found out that Lewis’s chromosome
deletion was in fact unique as there was no other exact
known case recorded worldwide. However, we were
informed that similar cases on record would give us an
indication of what problems we could expect.
As Lewis grows, any problems, either mental or physical,
are reported to Unique to help build a file on his deletions.
The aim is to help others born with the same, or similar.
family has found us because of
it! Well done Catherine and
thank you for your hard work!
You can read more about
Catherine, her daughter
Georgia and her fundraising
event on page 12.
A team at Barclays Bank in
Glasgow made us the
beneficiary of their monthly
fundraising with Barclays
matching the amount they
raised which was great.
Thanks to Chris Fuller for
nominating us.
In May, Ulrika Eklund and
Michael Corless celebrated
their wedding with a party and
as part of their celebrations
decided to ask for donations to
Unique. Congratulations
Ulrika and Michael, we wish
you every happiness.
On 2nd June, Leigh Porteus,
whose sister Karen Procek is
a Unique member, was
www.rarechromo.org
married to Adam. They also
very kindly decided to make
Unique a part of their day.
Many congratulations Leigh
and Adam and thank you for
supporting Unique.
WH Collier Ltd, a brickmaking
company in Marks Tey, Essex,
recently celebrated their 150th
anniversary, donating the
proceeds of sales of
commemorative tape
measures to Unique. Thank
you to Jackie Longman for
organising and
congratulations to the
company on such a milestone!
Maxine Godfrey ran a 10k with
her daughter, Unique member
Leanne Preuss, raising over
£200 and her husband Dale
nominated Unique to be the
2nd June 2013
was a wonderful
day in our family, it
saw my sister get
married to the love
of her life and was
a truly family
occasion for us all.
Rather than spend
money on favours
for guests Leigh
and Adam decided
to donate to charity
and chose two
close to their
hearts. I was completely overwhelmed when I saw they had
chosen to support Unique and having been involved with a
lot of the planning for the wedding this came as a complete
surprise that left me speechless and in tears with pride!
Seeing so many people wearing their Unique badges and
asking about the charity was fantastic and I’m so grateful
to them that they helped raise so much money and
awareness of Unique
Karen Procek
charity of the year at the
company he works for. Dale
said that they are delighted to
be able to help in their own
small way.
Colin Taylor donated the
proceeds of a games night he
organised for the Members of
St Andrews Methodist Church,
Mirfield in May. Thanks yet
again Colin!
James Stevens nominated
Unique to benefit from the
proceeds of a dress-down day
at his workplace, Arval UK
Ltd, raising over £200.
Thanks also to Skills Motor
Coaches in Nottingham for
their recent donation. Member
Lincoln Ramus works there
and suggested us as a
recipient. Thanks Lincoln!
We were also very touched to
receive donations from Janice
Brown, as part of the
celebration of the life of her
daughter Sophia who very
sadly passed away earlier this
year. Thank you, Jan, for
asking people to make
donations to Unique. We are
extremely grateful.
If you’re doing some
fundraising, or maybe just
thinking about it, thinking
about nominating us for help
from your employer or just
want to make a donation,
please drop Craig Mitchell (our
Chief Operating Officer) an
email at [email protected].
Craig will be able to advise on
how to go about fundraising or
donating and can help with
information about Unique. If
you’re fundraising, we’ll even
provide one of our special
Unique T-shirts, great for
raising awareness!
7
Medically verified
information guides for families
Available for these rare chromosome disorders
English
• Proximal 1p deletions
• 1p36 deletions
• 1q21.1 microdeletions
Updated
• 1q21.1 microduplications
• 1q4 deletions
• 1q duplications
• Supernumerary
chromosome 1
• 2p15p16.1 microdeletions
Updated
• 2p deletions
• 2q23.1 microdeletions New
• q32 deletions
• 2q33.1 deletions & other
deletions between 2q31
and 2q33
• 2q37 deletions Updated
• 2q37 deletions in
adolescents & adults
• Ring 2
• Duplications of 2p
• 2q duplications
• 3p25 deletions
Update in progress
• 3q29 deletions &
microdeletions
• 3q29 duplications &
microduplications
• 3q duplications
• 4p;8p Translocations
• 4p duplications
• 4q deletions between
4q11 & 4q22
4q21 & 4q22
4q21 & 4q31
• 4q deletions from
4q31 & beyond
• 4q duplications
• 5q22 deletions
• 6p deletions
6q11 & 6q16
6q13 & 6q14
6q15 & 6q23
8
6q23 & 6q24
• 6q deletions from 6q25
6q26 & 6q27
• Duplications of 6q
• 7q duplications
• 7q11.23 duplications
Updated
• Proximal interstitial
7q deletions
• 7q21q32 deletions
• 7q36 deletions
•
•
•
•
•
•
•
•
8p23 deletions
8p23 duplications
8p duplications
Inverted duplication and
deletion of 8p
8q duplications
Supernumerary
chromosome 8
Trisomy 8 mosaicism
Updated
Trisomy 8 mosaicism in
adolescents & adults
• 9p deletions (Alfi syndrome)
• 9p24 deletions
• Kleefstra syndrome
(9q34.3 deletions)
• 9q34 duplications New
• Ring 9
• Trisomy 9 mosaicism
• Tetrasomy 9p
•
•
•
•
•
10p deletions
10p duplications
10q22q24 deletions
10q25/6 deletions
Duplications of 10q
• 11;22 translocation
• Emanuel syndrome
• 11q terminal deletions
(Jacobsen syndrome)
• Pallister-Killian syndrome
and mosaic tetrasomy 12p
• 12q deletions
• 12q14 microdeletions
• 13q deletions including RB1
• 13q deletions various
• 13q distal interstitial
deletions
• 13q deletions including
the end of 13q
• Ring 13
14q22 & 14q32
14q31 & 14q32.1
14q32.2 & 14q32.3
• 14q deletions proximal to
14q22
• Duplications of distal 14q
• Uniparental disomy 14
• Ring 14
• 15q deletions
• 15q13.3 microdeletion
syndrome Updated
• 15q24 microdeletions
Updated
• Isodicentric 15
• Ring 15
• 16p11.2 microdeletions
• 16p11.2 microduplications
• Other proximal deletions
of 16p
• 16p13 deletions
• 16p13.11 microduplications
• 16q deletions
• Duplications of proximal 16q
• 17p13.1 and 17p13.2
deletions New
• 17p13.3 deletions New
• 17p duplications
• 17q12 deletions
• 17q12 microduplications
New
• Koolen de Vries syndrome
(17q21.31 microdeletions)
Updated
•
•
•
•
18p deletions
18q proximal deletions
18q distal deletions
Ring 18
• 20p deletions
• Ring 20
• 21q deletions
• Ring 21
• 22q11.2 deletions
• 22q11.2 distal deletion
syndrome New
• 22q13 deletions
• Duplications of 22q12 & q13
• Ring 22
• Xp11.2 duplications
• Duplications of Xq28
• 45X/46XY including Y
chromosome
rearrangements
• 47,XYY Update in progress
• 48,XYYY
• 48,XXYY
• 48,XXXY
• 49,XXXXY
• Pentasomy X
• Triple X
• Tetrasomy X
• Triploidy
• Diploidy triploidy
• Balanced reciprocal
translocations
• FISH tests
• Microarrays
• DNA sequencing New
• Robertsonian translocations
• Small supernumerary
marker chromosomes
In preparation
•
•
•
•
15q26 deletions
17p13.3 microduplications
17q21.31 microduplications
19p13.2 deletions
From our extensive library,
Unique can also provide
families with copies of
original papers published
in the medical literature.
Please contact Sarah
([email protected]).
Arabic
• Array CGH
Danish
• Triple X
• Array CGH
www.rarechromo.org
Dutch
• 1p36 deletion syndrome
In preparation
• 2q37 deletions
In preparation
• 3p25 deletions
In preparation
• 3q29 microdeletions New
• 4q duplications
In preparation
In preparation
• 9p deletions New
• Trisomy 9 Mosaicism
In preparation
• 11q deletion disorder
(Jacobsen syndrome)
• 18q deletions In preparation
• 22q13 deletions New
• Tetrasomy X
French
• 1p36 deletion
• 1q4 deletions In preparation
• 2q32 deletions and
microdeletions
• 2q37 deletions
• 3p 25 deletions
In preparation
• 3qter deletions
In preparation
In preparation
• Deletions including 5q22
In preparation
In preparation
• Inv dup del 8p
• 8p duplications
In preparation
• 9p deletions
www.rarechromo.org
(Jacobsen syndrome)
• Pallister Killian syndrome
• 13q deletions New
• Ring 14
• UPD14 In preparation
• Ring 15
• Idic 15
In preparation
• Ring 18
• 22q13 deletion
• Ring 22
• Tetrasomy X
• Pentasomy X In preparation
• 49,XXXXY
• 48,XXXY
• 48,XXYY
• Array CGH
German
• 1q21 duplications
In preparation
• 1q4 deletions In preparation
• 3p deletions
4q21 and 4q22 New
• 6q deletions from q15 to q23
• 7q36 deletions
Jacobsen syndrome
• 13q deletions various
• Idic 15
• Ring 18
•
•
•
•
•
•
Ring 22
Pentasomy X
XYY
Array CGH In preparation
Robertsonian translocations
Small supernumerary
marker chromosomes
Greek
• Array CGH
• Balanced Translocations
Italian
• Inv dup del 8p
In preparation
• Idic 15
• 18p deletions New
• Proximal 18q deletions New
• Distal 18q deletions New
• Ring 18 New
• Array CGH
Polish
• 1q21.1 microdeletions New
• 1p36 deletion New
In preparation
• Idic(15) In preparation
• XXXY In preparation
• ArrayCGH In preparation
• Balanced translocations
New
Portuguese
• ArrayCGH In preparation
Romanian
• Array CGH
In preparation
Spanish
• 1p36 deletion
• 2q37 deletions
In preparation
• 3p25 deletions New
• 8p23.1 deletions
In preparation
In preparation
• Kleefstra syndrome
In preparation
Jacobsen syndrome
• Idic 15 In preparation
• 17q12 microdeletion New
• Proximal 18q deletions New
• Distal 18q deletions New
• 22q13 deletion
• Triple X
• 48,XXXY
• 49, XXXXY
• Array CGH
Unique guides are translated
on request by a native speaker
who is familiar with the
particular disorder. The
translation is then reviewed by
a native speaker geneticist or
doctor. Unique’s sister
organisations in France
[Valentin APAC] and Germany
[Leona] have been assiduous
in preparing translations.
June 2013
9
For those families members
who wonder if I should or
shouldn’t get my child into
therapeutic riding, from a
sceptic myself I say do it.
Therapeutic Riding works in
mystery ways. We have seen it
with our own eyes.
1q21.1 microdeletion
Derek Dennis; aged 6 years
Amy Dennis
on his placement test and I
worried he wouldn’t make it
through the rigorous
curriculum. Fortunately he’s
an eager learner and has
seemed to blossom these last
few months. His report card
just came and he actually had
“Outstanding” in several
academic areas! I can’t wait to
find out what this coming year
holds for Derek!
Duplications in 1p31.1,
7p22.3 & 8p23.1 with
Deletions in 1q21.1,
8q11.23 deletion & 2q34
and mutations in RAI1
and MYO15 genes
Ashley; aged 15 years
As Derek Dennis (1q21.1
microdeletion) eagerly awaits
his sixth birthday, I’ve been
reflecting on the progress he
has made this year. When he
first started receiving early
intervention, the therapists
told me he would catch up by
the time he was five. Back
then, no one knew he was
Unique. It’s pretty amazing,
but those therapists were
right!
Physically he has gotten much
stronger and sturdier this year
and is able to keep up with his
peers. The accomplishment he
was most proud of was
learning to ride his bicycle.
Derek attended a regular
education Kindergarten this
year. He did not do well at all
10
Rose and Adam Ledingham
E: [email protected]
Amazing journey that all
started by Therapeutic
Riding.
4 years ago we enrolled Ash in
to OG Therapeutic Riding for a
few reasons 1: was to get her
out in the community, 2: was
to get her socializing with
other peers her age, 3: to help
with her developmentally,
physically, socially and 4: was
we knew that Ash loved
animals and this was perfect
program for her. Not knowing
how Ash would respond we
didn’t have much hope, but
within the first 6-week session
we seen improvements of
social skills, talking to
volunteers, smiling and
recalling her day events. This
was a break through as before
Ash wouldn’t look at any one
nor speak to them if they
weren’t family or relatively
close to her. The second
6-weeks session my husband
made a comment that Ash
should assist with the care of
the horses instead of riding
and just leaving the work to
the volunteers, the instructor
and assistant instructor said,
“sure come on back…”
After short 12 weeks Ash was
going back in the barn assist
with the horses, learning
about care, feeding, bathing
and tack up/tack down and
cleaning of tack. Once they
were comfortable with Ash
they got Ash to do more with
the horse, by working and
caring for her best friend
LIBBY and building her skills
from there By the end of the
first session of OG, Ash made
leaps and bounds and great
strides in every goal that we
set for!
During the Summer months
Ash was invited out to counting
building her skills and
confidence around horse.
One of the owners of the horse
in the OG program said to Ash
and the Administrators that as
long as Ash loves her pony she
is able to ride her anytime that
We’d LOVE your letters for the next
edition of the Magazine!
Come on everyone – please do get writing about your
children for the magazine! We love to receive letters and
photos from any families within the group. If you would like
to include a piece in the next edition of the magazine,
please send your article to Beverly by 30th September
2013. If at all possible, please send your article by email
([email protected] or [email protected]),
preferably as a Word document attachment; this is by far
the easiest way for us and saves us a lot of work typing up
your letter. However, if this is not possible, please send
your article by post (PO Box 2189, Caterham, Surrey
CR3 5GN, England). Please make sure you make it clear
that the article is to be published in the magazine by
writing “For the Magazine” across the top of the article.
Please send photos by email, preferably as a jpg file
attachment. Otherwise, you can send photos by post but
please make sure that you write your own name and
address and your child’s name on the back of the photo and
state whether you want the photos returned to you. Once I
have received your article I will send you a magazine
permission form to complete, sign and return to me; I can’t
include your article or photos without receiving this form.
Many thanks!
Beverly Searle
Unique CEO
www.rarechromo.org
European workshop on
Pallister-Killian Syndrome
Families affected by Pallister-Killian Syndrome,
including all those who attended Unique’s PKS families’
and professionals’ study weekend back in 2010, might like
to know about a workshop being held in Bologna, Italy
6th–8th September 2013. Please direct all enquiries to:
she wants! Because she has
seen the work and dedication
that Ash has done and put
forth to the pony!
Because of the dedication of
the volunteers, instructors,
parents and that one special
friend Libby, Ashley is now
attending regular riding
program and competing in
Hunter/Jumper Competitions
at bronze ring level. And,
during OG session Ashley gives
back to the program that
helped her, Ash will clean,
tack up and tack down all
horses including her Libby,
Ash will assist in OG classes
by leading Libby or side
walking, picking up horse poop
whatever is needed to be done.
And again in the Summer
months Ash will volunteer to
care for the horses. Now that
Ash is graduating from junior
high school and starting a new
journey into high school, we
are faced with new challenges
www.rarechromo.org
with her educational
placement, but the up side is
that because of her Best
Friend Libby and everyone who
assisted or help us. Ash has
been accepted in to Green
Certificate Program being
offered by Alberta Government
and Rural Development for the
Equine Technician I program in
partnership with Olds College
Equine Technician Diploma .
Ash has already got a head
start on the program and by
the end of high school Grade
12 – Ash will receive a
Certificate of Achievement
(this is for special needs
students in high school who
completed 12-grades of high
school) and her certificate as
Equine Technician! We
couldn’t been happier for our
end results for Ash, because
she has proven to all that she
is capable with the right
support and direction from all
whom love her and have her
Samantha Carletti, President of PKS Kids Italia Onlus
Pallister-Killian Syndrome Italian Association
www.pksitalia.org
best interest in heart! If I didn’t
push, Ash wouldn’t be doing
what she is today!
Duplication 1p36.1p36.2
Tylor Tucker; aged 11 years
Leah Tucker
Today we work on social skills,
stranger danger, and how to
care for ones self. We struggle
now with a delayed
hypothalamic response which
causes him to feel hungry all
the time. Add to that, what
appears to be early onset
puberty and we have an eating
machine. On good days he is
the loving, affectionate,
compassionate, funny little
baby boy we have all grown to
know and love. On bad days we
struggle with defiance and
stubbornness like no other.
Health-wise his heart is strong
and we don't foresee needing
another surgery for quite some
time.
Tylor is 11 now. 11 YEARS… it
still blows my mind as I recall
the ups and downs, the highs
and lows, the loooonnnng
nights and rough days. To look
at him now you would hardly
believe the struggles we have
endured to get to this point. My
graying hair and crows feet
would suggest otherwise
though.
He is now playing baseball on
a Challenger team for special
needs. He plays soccer in the
fall for TOPSoccer and
basketball in the winter. This
Summer he will be part of his
second year at a summer art
academy and about a month
ago he completed his testing
to acquire his yellow belt in
karate. He is growing so much
and what was a little boy 3
years ago, that I would carry in
11
from my car to place in bed in
the evenings, is now almost
bigger than me.
He continues to find passion in
video games but also enjoys
helping me in the kitchen
when I am cooking and in the
garden when I am planting or
harvesting. I often watch him
from a distance wondering
where the time has gone,
knowing how quickly it will
continue to go. I can truly say, I
would not have been as sane
through this all without the
support and friendships I have
found through Unique and
other groups like it. He is
stronger and has the services
he needs because of the
discussions with other families
and reading and listening to
their experiences. I will forever
be grateful for all that my
Unique family has provided
over the last 11 years.
Duplication 1q42.1qter
with Deletion 18q23qter
Julian Dennis McDonald;
aged 2 years
Sylvia and Andrew McDonald,
Box 132, Lamont, Alberta,
T0B 2R0, Canada
On March 9, 2011 Julian
McDonald was born into this
world. Unlike our 4 year old
Sandy, Julian’s birth was
completely opposite. Jules was
breech so we had to deliver via
C-section. He was 5lb 5oz,
quite a small little guy.
Problems started the first
night in hospital, when the
night nurses noticed his
12
breathing would go up and
down. By morning we were up
in the NICU where they were
testing him for infections,
checking out his heart, lungs,
stomach and head. All scans
had come back normal. The
nurse practitioner noticed
“dysmorphic features” and
wanted a geneticist to take a
look at him as well. On the
fifth day in NICU the
Geneticist, Dr Leonard, took a
gander at our beautiful baby
boy and said she saw nothing
of concern, however if blood
needed to be taken, then
chromosome testing was
recommended. I was shocked
about all the tests they were
conducting, but thankful for
their concerns.
Julian was on the lower
percentile at first and hasn’t
been on the curve since. He
had a failure to thrive gaining
only 2lbs in the first couple
months. Every week we visited
our pediatrician checking his
weight. Then the call came
from the pediatrician, he said
“His chromosomes came back
and he has an unbalanced
translocation of 2
chromosomes”. Of course I
asked “What does that mean?”
“We don’t know” he answered.
There are a few things you
don’t want to hear from your
doctor and that is definitely
one of them. I called my best
friend Rob (who by luck) has a
Major in Genetics. He
explained how little of the
Human Genome is actually
mapped out and his particular
translocation may be new.
Julian has had a few things
seen in other children like
Hypotonia, Hypospadias,
feeding issues and unusual
thumbs. He has seen Pediatric
Cardiologists, GI doctors,
Nutritionists, had enzyme
testing and an MRI. We have
found out his metabolism
works twice as fast and with
the Hypotonia he uses more
energy to do things, therefore
his weight gain is slow.
At 2 years old he is in a walker,
and we are still feeding him
however he is getting stronger
everyday and is now holding
his own bottle. He wouldn’t be
nearly as far along in
development if not for his
brother Sandy. He is very
protective of him but pushes
him to learn new things every
day.
Julian is the pride of our
ENTIRE family, I post
everything on Facebook for all
to enjoy and see. I am very
public about his “disability”.
We were able to share our
story on our local TV news
about Rare Chromosomal
Imbalances. From this several
new members joined our
Unique Canada Facebook
Group. I have definitely found
my direction in life. I hope to
educate more people about
our “Rare” Jules.
3q27.1 Microdeletion
Georgia Bell: aged 2.5 years
Mum Catherine Bell tells us
about Georgia and about her
fundraising efforts on our
behalf!
Our Background
Georgia was born 27.10.2010 –
whilst I was pregnant, at my 20
week scan it was detected my
baby was small and this could
be down to a chromosome
disorder. I decided to continue
with the pregnancy and
refused an amnio test. Georgia
was born at full term by
planned C-section weighing
2.01kg, and she was just
perfect. After 14 weeks of
struggling to feed her
sufficient amount of milk, and
listening to Georgia's noisy
breathing and endless visits to
the doctors, we decided that
we needed to get another
opinion, so took her the local
A&E department. From that
moment, I knew we had done
the right thing to get help.
During our 6½ week stay at the
Queens Medical Centre,
Georgia underwent a NG tube
fitting, lumbar puncture to test
for meningitis, general
anaesthetic to be able to take a
look at her airways, a general
anaesthetic to remove some
skin folds from her voice box, a
stint in Intensive Care and
High Dependency, and visits
from various paediatricians
and genetics. When the
geneticist came to visit us, he
suspected Georgia had a
condition called Russell Silver
Syndrome, and having now
read about the characteristics
of this condition, I could see
why this was being suggested.
After giving consent for blood
samples to be taken and
investigated, we waited 4
months for the results which
ruled that Georgia did not have
this condition. So further blood
tests were taken, and 4
months on we received the
diagnosis of 3q27.1
microdeletion. We left the
genetics office with very brief
details and a leaflet for
Unique. Georgia is now 2 years
7 months old. Her medical
problems are that she still has
feeding issues and had a
gastrostomy fitted last June,
she also underwent a Nissen
Fundoplication at the same
time to treat her acute reflux,
which I’m pleased to say has
worked. She has been walking
for 8 months, she is still a little
unsteady on her feet, she also
has hypertonia and
hypermobility, so she gets
tired really easily, but has now
been discharged from
physiotherapy. She has a small
head and small teeth, and is
generally small in stature,
currently only wearing 12–18
months clothes sizes. Georgia
has a learning delay assessed
by Portage of being 6 months
(was 9 months delay at first
Behaviour Advice website
www.behaviouradvice.org is a new free website to help
parents and families with their children’s behaviour
problems. This website has been set up by professionals
working with children with social, emotional and
behavioural difficulties and disabilities.
www.rarechromo.org
Contact a Family’s Father’s Guide
Are you the father of a disabled child? Check out CaF’s new
guide. Having a disabled child affects all members of a
family. No matter if you're a new parent or an experienced
one – everyone can react in different ways to the news that
their child has a disability or medical condition.
assessment), she now attends
pre-school 2 days a week and
continues to make great
progress.
Charity Events
How it came about
I attend a local toddler group
every Monday held at the local
church. Georgia has attended
even before she was born as I
used to go with my son, Elliott.
In that time, the group has
been extremely supportive to
me, my husband, James,
Elliott, Georgia and family. One
Monday the leader of the
group Mal Lowe asked if there
were any charities that we
would like to nominate to
receive a gift from the church.
I nominated Unique. 3 months
or so later, Mal calls me to tell
me Unique had been chosen
but it was not going to be as
easy as I thought – I was now
responsible to put on not 1, but
2 events in just under 3
weeks…
Plans
I called upon the local
community to help, by
donating cakes and chocolate
for the coffee morning. I
posted advertisements in my
village and surrounding area, I
posted it on FB – my own
page, Unique FB page, Unique
East Midlands Page, and a
local page for local parents. I
even went on the local BBC
radio station to talk about
Georgia, Unique and the
charity events! I contacted all
the local businesses to raise
some great raffle prizes, I got
35 prizes in all!
sale – we raised a total of
£508!
Then in the evening The
Salvation Army Band came to
do a concert called ‘Music For
a Summers Evening’ at 7pm.
We sold tickets for £5. We
again sold raffle tickets in the
evening. We raised £472! We
also raised donations for a
food bank to thank the
Salvation Army for coming to
do this for us. I was also
pleased that another ‘Unique’
family made it to the event,
and it was great to see our 2
unique children together.
So in total, we raised £980, not
bad for a (19) days work! I was
thrilled with the money raised
and overwhelmed with the
support we got.
Thank you so much Catherine.
We were thrilled too and so
pleased that other families in
your area found us because of
the interview you did on your
local radio station!
Duplication 4pter with
Deletion 8p23.1pter
Ethan Rolle; aged 12 years
Our new Father’s guide
www.cafamily.org.uk/media/659939/
fathers_march_2013_final_web.pdf
includes tips for dads from other dads, and personal
stories from fathers, as well as updated sources of support
and useful resources. Explore more about family life in our
carers, family and friends section and check out the
Fathers pages www.cafamily.org.uk/advice-and-support/
carers-family-and-friends/fathers/.
Parents in the UK can call our freephone helpline on
0808 808 3555 and ask for a free copy or if you’d like to
order in bulk then please call Natalie Adams on
020 7608 8755.
Mandy comments:
Ethan blessed us with his
presence into this world three
days after Christmas 12 years
ago. I still remember carrying
him from the delivery room to
the nursery and it was love at
first sight. Almost from the
beginning I noticed that he
was not developing normally,
but we didn’t have any idea
how special he would become.
At 12 years old he has seen an
awful lot in his short life. Not
all of it has been good, but he
is a bit of a trooper and keeps
on going. His intellectual and
physical development has
been quite slow. He has some
vision problems because of the
strabismus and wears glasses.
He does not have depth
perception and his eye-hand
coordination is not very good
and sometimes he is quite
clumsy. We don’t know if it is
related to his vision or just his
normal awkwardness.
Running is difficult and doing a
lot of other things that
children enjoy doing. When he
was 7 years old, it became
apparent that he was too much
for my daughter to handle. She
has a lot of her own issues and
was not able to cope with
Ethan. He suffered greatly
from the lack of ability on her
part to take care of him. There
was a lot of emotional damage
Mandy Patrick, 7 Ruth Circle,
Hampton, VA 23666, USA
[email protected]
Here Ethan’s grandmother
Mandy and his amazing foster
Mom Elona write about Ethan
The day arrived
On Saturday 8th June, we held
a coffee morning from
10.30am–12.30pm. We sold
tea, coffee, juice and cake. We
had a cake stall, a chocolate
tombola, raffle, Unique
information and wristbands for
www.rarechromo.org
13
to him which he is still carries.
Ethan was given a very special
angel. Elona is her name and
she has become his foster
mother. She has been in his
life since he was 4 years old
and completely took him in
when he was almost 8 years
old. It has been a wonderful
transition for him. She has
worked with developmentally
delayed children most of her
life. She has a normal 21 year
old son who has “adopted “
Ethan as his brother. Elona
has worked tirelessly with
Ethan and thinks of him as her
son now. She is dedicated to
giving him the best possible
life he can have. The cornea in
both his eyes is damaged and
will require surgery; this is
thought by his cornea
specialist to be possibly due to
the Amantadine he has taken
but they will know more after
doing a biopsy during corneal
surgery in July. His vision was
already bad, but it is horrible
now. We hope it will be
successful. Since his bad
experience with the
medication, he has regressed.
The doctors are trying to find
some medication that will help
with his extreme lack of focus.
Ethan cannot tolerate the
usual medications for
hyperactivity. In his short life
he has been on almost every
drug out there. Recently a
spinal tap was done in the
hopes of finding out some
specific drug that might be
beneficial. He has word
recognition and was doing very
well with dressing himself and
learning to be a little
independent. Most of that is
gone now.
Elona comments:
Ethan remains at the age of
about 5 years old. Ethan has a
great since of humor and
makes everyone in his life have
a brighter day. With everything
that he has been through he
never forgets to pray daily for
others. As Ethan’s mom I was
blessed when Ethan came into
my life. I can’t imagine him not
being my son. Ethan is such a
loving child and he has
endured so much and that’s
14
why I tell him often that I
admire him for being a
forgiving child. When they are
sticking him with needles and
sitting for hours waiting to see
doctors, he still has a smile on
his face. I have never regretted
the day I said Ethan could live
with me and my son. I am
thankful to his grandmother
for the opportunity she gave
me to become Ethan’s mother.
Her never ending support
through the difficult times has
been a blessing.
she wasn’t figuring out how to
suck and that she was never
waking up to eat! With all her
fussing and screaming every
waking hour, our visits to the
pediatrician were too frequent.
I was not liking being a new
mom.
Her pediatrician wrongly
suggested that her feeding
difficulties be caused by acid
reflux. Since Emma had
normal height and weight, he
suggested to continue doing
whatever I was doing to care
for her. So for the entire first
year, Emma and I stayed
home, spending every waking
hour trying to force a drop or
two of formula into her mouth
without her choking on it. I
couldn’t understand why I was
still not able to do anything
else than attend to her basic
needs. In hindsight, her poor
sucking was surely the first
sign of motor difficulties.
Finally, the day came when an
ophthalmologist hinted that
there may be more to it than
just a difficult temperament.
She had facial features, motor
delays, and cardiac
malformations suggesting
genetic abnormalities. This
marked the beginning of
multiple medical visits and
testings after which we were
given her diagnosis. No one
could explain what would
happen to her. Information
through Unique surely helped
us to cope better with the
news, as the unknown was
surely very stressful.
Her second year of life was
filled with medical
appointments and therapies.
Contact a Family’s latest Benefits
Guides published
Duplications in
6p25.1p24.3 &
6p22.3p22.2 with
Deletions in
6p25.3p25.2, 6p24.1 &
6p22.3
Emma; aged 3 years
Nathalie Chokron
This week is my daughter
Emma’s third birthday. On this
occasion, I can’t help but
reminisce on all the happy and
sad events since her birth,
when all of our lives changed a
lifetime ago.
Emma was born induced at 41
weeks after an uneventful
pregnancy. After a long labor,
she was born unconscious
with the umbilical cord
wrapped around her neck and
immediately showed
tremendous difficulties to
feed. Breastfeeding was
impossible. It was difficult to
take the decision to stop with
all the nurses saying that “if
you try hard enough, you will
be able to breastfeed” or “if
the baby is really hungry, she
will eat”. The reality was that
Contact a Family has published the latest in its range of
benefits guides for families with disabled children to
coincide with the launch of personal independence
payments (PIP) – www.cafamily.org.uk/media/389326/
personal_independence_june_2013_final_low_res.pdf.
PIP will replace disability living allowance (DLA) for those
aged 16 plus from 10th June. Initially PIP will only apply to
those making a brand new claim. Then, from October 2013
DLA claimants whose existing award ends, or who report a
change of circumstances, or who turn 16 will be
re-assessed under the PIP system. At first glance the new
PIP may seem very similar to DLA. Like DLA it is not means
tested and has two components – a mobility component
and a daily living component which considers the need for
care and assistance. However, PIP uses entirely new rules
to decide whether you qualify for the benefit. There will
also be a new way of assessing claims, normally involving a
face-to-face meeting with a health professional.
Srabani Sen, Chief Executive of Contact a Family said:
“Contact a Family has a team of expert benefit advisers
who are able to offer detailed, one to one advice to parent
carers who want to find out more about this and the many
other planned benefit and welfare changes. We can also
offer parents of disabled children a comprehensive
benefits ‘check up’, to help those who might be missing out
on vital income. We want to reduce any worry and
confusion about benefit changes and increase the chances
of families with disabled children getting what they are
entitled to. If you are a parent of a disabled child and are
worried about benefit and welfare issues or to get a copy of
Personal independence payment and other benefits at 16,
please ring the freephone helpline on 0808 808 3555
Monday, email us on [email protected] or visit our
website. Don't be caught out by benefit changes.”
www.rarechromo.org
Even though not the typical life
of a toddler, we came to like
our weekly visits with our
therapists. Emma soon proved
that she was going to progress
beyond expectations. She
walked at 2.5 years, talks well
for her age, is very smart, has
a great memory, and is very
sociable. She needs hearing
aids for a mild-moderate
hearing losses and wears
eyeglasses. Her motor skills
remain delayed for her age
although she seems to acquire
every one of them in her own
time. Her poor balance makes
her fearful of physical activity,
her speech is a little unclear
and she still takes long to eat.
She loves books and music so
much that every day with her
sounds like a musical. She is
our ultimate remedy for
forgetting all of our worries
about her future and
happiness. I know that this is
every parent’s worries, so we
will need to be patient and
strong to deal with any
circumstance in the best of
our abilities. However hard the
learning process has been so
far, it has come with even
bigger rewards. I have learnt
so much about myself through
this experience, becoming a
better person from it. No
matter what happens now, I
am sure that happier
memories are still to come.
Deletion 8p23.1pter
Victoria Fearnley Atwell;
aged 19 years
Anna Fearnley, PO Box 272,
Red Hill 4059, Queensland,
Australia
Imagine a parent and a baby in
a pediatrician’s office in the
1990’s. The child is 15 months
old, lying on the floor on her
www.rarechromo.org
side unable to lift her head but
is playing intently with nesting
cups. The pediatrician is
mumbling about a
chromosome deletion and
severe intellectual and
physical impairment. He
passes some case reports to
the mother and says, ”Go
home and read these and
phone if you have any
questions.”
Skip forward eighteen years.
The child has grown into a
confident (but shy), young
woman whose hobbies are
rock climbing and composing
music. Two years ago she
graduated from high school (in
Australia) and is now studying
Bachelor of Nursing at
University 500km from home.
She has just received back her
latest assignment and she
texts her mother “High
distinction ☺”.
This is Victoria’s story. She has
a terminal deletion of 8p23.1.
The initial prognosis was
severe (never walk, never talk)
but it did not foretell her
future. What wasn’t factored in
was the child’s incredible
determination to overcome low
muscle tone and joint laxity,
coupled with the power of
early intervention with speech
therapy, physiotherapy and
occupational therapy.
Everyone has a talent.
Victoria’s talent is persistence.
She just keeps on trying,
despite repeated failures. She
walked and signed at two
years of age, changed from
sign to spoken speech
between three and four, and
rode an unmodified bicycle at
thirteen. She has recently
climbed the summit of Mount
Kinabalu, the highest
mountain in South-East Asia.
Does Victoria have effects from
the deletion? Yes – she still
has low muscle tone, and
although one of her favourite
hobbies is rock climbing she
would be the first to admit that
she is very bad at it. But that
doesn’t stop her from enjoying
the sport and the
companionship of her fellow
climbers.
Disabilinet
www.disabilinet.com is a new social media site just for
people living with, or affected by disability. disabilinet is a
unique community to share and engage with people with a
disability using Blogs, pictures, videos, events and groups
for free. Mobile versions of the site are also available for
iPhone, iPad and android.
Victoria also has speech
dyspraxia where she
occasionally jumbles sounds
within a word. “Dylexsia” is her
favourite example and results
in uncontrollable giggling at
her inability to get the sounds
in the correct sequence.
Sometimes she selects a word
that is close in sound but not
meaning. An example of a
close but not exact match was
when Victoria phoned
telephone directory assistance
wanting the phone number of
The Australian Electoral
Commission so she could
enroll to vote. The telephonist
could not find any listing for
The Australian Electrical
Commission!
The other major difficulty is
cognitive planning. The
coupling of speech dyspraxia
and slow cognitive planning
makes some forms of
academic assessments very
difficult, such as exams
requiring oral presentations or
short written answers. Her
forte is assignment writing
where she has time to plan a
response and where
persistence at collating
information is an important
attribute. Hence the high
distinction she attained in her
nursing assignment.
I feel that my journey with
Victoria through the unknowns
of a rare chromosome deletion
is almost at an end. She is
almost ready to take flight into
fully independent adulthood.
With the benefit of hindsight
and experience may I be so
bold as to offer ideas to other
parents of a child with a rare
chromosome disorder who are
just beginning their journey.
My advice is very simple:
Follow Victoria’s example.
• Never ever give up. No
matter what is said and who
says it. Prognoses are, at
best, educated wellintentioned guesses. They
are often based on worstcase-scenarios published as
case reports in medical
journals. Remember that no
one can know the unknown,
the future.
• The unknown can be very
frightening, not just for
parents, but also for medical
specialists. Be wary of
someone who seems to have
all the answers. Embrace
the professional who has the
courage to say, “I don’t
know.”
• Visit specialists with an
expectation of receiving
valuable information. Prior
to your appointment write
them a letter introducing
your child and their
condition. List questions or
areas that you are
concerned about. Ask the
specialist to research these
areas in relation to your
child’s rare chromosome
disorder before the
appointment. In other words,
set them homework! The
specialist’s time is valuable
and so is yours. These
simple steps of preparation
will ensure the consultation
is profoundly productive.
• Keep “hope” safe – it is the
most precious of all
commodities. Providing
hope to parents frightens a
lot of people with medical
training as they are
concerned that parents may
build false expectations.
What they don’t realize is
that this emotion is the most
vital and powerful tool for
parents facing the
challenges of 24–7 care. It
provides the energy to
parents for the thousands of
15
hours devoted to therapy
programs. To lose hope, I
believe, is to lose everything.
• Follow your heart of hearts
as to what is the best choice
for your child, be it
intervention, medication or
education. There are often
so many choices; it may be
helpful to visualize them as
a smorgasbord. Lift the lids
and taste the dishes but only
go back for second helpings
to the ones that you liked.
Never feel indebted or
grateful for an inferior
service or program.
• Everyone has a talent.
Never allow it to be
wasted. Victoria’s talent
is persistence and
academically this translates
into collation of research
material. Therefore she
selects, where possible,
University subjects that have
this form of assessment.
She has learnt to always
search for opportunities
where she can reap reward
for her particular talent,
persistence.
• Instead of learning
difficulties, think learning
differences. Traditional
education provides the key to
unlock the box of learning
for most, but not all,
children. If your child has a
learning difference search
for a different key. Victoria
had a marked delay in
spoken speech and only had
sounds for Mum, Dad, her
sister and milk. It was
thought that she would only
communicate by sign. While
we were driving to and from
therapy sessions I used to
sing nursery rhymes to her
as she loved listening to
music. One day I stopped
singing the last word of a
particular rhyme, and to my
total astonishment, a voice
from the back seat of the car
sang the missing word! Once
Victoria could sing the word,
she could say the word.
Together we had stumbled
across the key to unlock the
box containing Victoria’s
voice. Victoria’s greatest
passion has remained
16
singing and she was
selected to sing in the
Australian Girls Choir at age
8. Her high school music
teacher noted that when
Victoria sang in class it was
as if she had entered
another world. Her teacher
was enthralled to hear how
music and singing had
provided the pathway for
Victoria to find her voice.
• No journey in life is ever a
straight line – there are
always hills, valleys and
roundabouts. Straight lines
only ever occur in our
dreams.
The final word belongs to
Victoria. She explains her
philosophy to attaining her
goals this way, “I may not drive
straight to the beach. I may be
different from everyone else
and take the scenic route via
the mountains. My way will be
longer but I will still reach the
coast. And I may even see
things along the way that no
one else has ever seen!”
Trisomy 8 Mosaicism
Shaun Ramsay;
aged 18 months
Anne Ramsay
Shaun was born on 9th
November 2011 at 34 +6 weeks
gestation. He was delivered
early by Caesarean section
due to a reduction in
movement and a loss of
amniotic fluid. My pregnancy
had been monitored very
closely as I have epilepsy and
also because I had previously
had 3 miscarriages. At my 24
Disabled Muslims’ Network
Hello to all the members of Unique – a great charity that I
have recently come across. My name is Zenab and I am 25
years old. I was born 3 months early and due to this I had a
lot of health problems as a child. I have sight loss and
hearing loss, I also suffered from epilepsy and a list of
other health problems. At the age of 16 after 2 years of
constant back pain I was diagnosed with ankylosing
spondylitis – it’s a form of arthritis that affects my spine
and all of my other joints.
Arthritis is a disease that most people think only affect
older people but hundreds of babies, children and young
people are diagnosed with a forum of arthritis. I decided to
start the Disabled Muslims’ Network after looking online
for organisations that support disabled Muslims and their
families and I found that there were no organisations for
Muslims with disabilities and their families.
To find out more about the Disabled Muslims’
Network please go to www.facebook.com\
disabledmuslimsnetwork. Email is
[email protected].
week scan we were advised
that Shaun’s right kidney was
smaller and was dilated. We
had been told that he would
need to get his kidneys
scanned when he was born.
Other than that we had no idea
of the journey that lay ahead of
us. On the 9th of November at
9.33am our beautiful boy was
born weighing 5lbs 7oz and
luckily my husband was by my
side in theatre (my husband
worked away and just
managed to get home). We
held Shaun for a minute then
he had a bluish tinge around
his nose/mouth so he was
taken away into SCBU. At this
point we hadn’t been told yet
of his health but we were so
happy that he had safely and
noisily made his way into the
world. While I was in recovery
a paediatrician from SCBU
came to explain about Shaun.
She told us that he had a cleft
palate, small jaw, was tongue
tied and had hypospadias. We
were told that he was doing
well; they had put in a ng tube
and he was under a light as he
had jaundice. We finally got to
hold our boy the next day and
when he was 3 days old we got
to dress and change him.
Shaun spent 3 days in the
incubator then he was
transferred into a small cot.
Shaun was 1 week old when
he was taken for a scan of his
kidneys this confirmed that he
had bilateral hydronephrosis
and hydroureter. They also
scanned his head and
confirmed he had agenesis of
the corpus callosum. It was at
this point that the doctors
discussed genetic screening
with us so we signed a form
for his bloods to be tested.
Shaun was doing really well
and was now on alternate
bottle feeds, we were getting
used to the soft silicon bottle
and he was getting stronger.
At 12 days old Shaun was
transferred to Yorkhill Hospital
in Glasgow as the doctors in
SCBU were having trouble
getting a catheter in to do a
test to check his bladder.
www.rarechromo.org
When he was transferred I got
to spend my first night with my
baby as parents were allowed
to stay. I was terrified but also
so excited. Shaun had a suprapubic catheter put in as due to
his hypospadias the doctors
were unable to place a
catheter. He was managing so
well with his feeds and when
he was 19 days old he pulled
out his NG tube. The nurses
decided to give him a chance
and if he had done well that
day he wouldn’t need the tube
replaced and since then he
has never had a NG tube!
On Thursday 1st December
Shaun was discharged from
hospital but was re-admitted
that night. He was being fed
and after he stopped
breathing, my mum performed
CPR on him and he was
admitted for observation. The
doctors explained to us that
Shaun had reflux so was put
on medication. Shaun was
discharged on the 3rd of
December finally we were able
to be a family. We had 2 weeks
at home before he had to go
back into Yorkhill hospital to
have a GA for a scope to go in
the catheter to check that
there were no blockages and
that his bladder was ok. The
scope confirmed that his
ureter was narrow but other
than that there was no other
reason for them being unable
to place the catheter.
were told to prepare for the
worst and we had him
baptised in intensive care. He
spent his first Christmas in
hospital but to everyone’s
pleasant surprise a few days
later he was fit and well
enough to get home. We were
told that he had bronchitis and
would always have a weaker
chest. When Shaun was 2
months old it was confirmed
that he had Trisomy 8
mosaicism. We were shocked,
upset and unsure of the future
but one thing stayed the same
our little boy had fought so
hard to stay with us that now
we had to be strong for him.
On 22nd of December Shaun
was discharged and we started
getting ready for his first
Christmas.
The first year of Shaun’s life
was the best and hardest year
of our lives. He had numerous
admissions to hospital due to
bronchiolitis and croup.
Shaun’s development is
delayed and from the age of 5
months we started physio
sessions, he first smiled aged
8 months and he hasn’t
stopped smiling since! He had
his cleft palate repaired in
September 2011 and it was so
hard he had to spend the night
in HDU and all the emotions
from his first Christmas came
rushing back. His cleft palate
operation was a success and
he doesn’t need to be seen by
the cleft clinic until he is 3.
Shaun had his full eye
examination the day before his
first birthday and we were so
happy that everything was OK
with his eyesight and he got
discharged from his first
clinic!
On Christmas Eve we went
through the scariest and
hardest night of our life. Shaun
had stopped breathing and my
husband performed CPR. This
time it was worse than a few
weeks previous and he was
admitted to intensive care, we
Soon enough we were
celebrating Shaun’s 1st
birthday. My son is such a
popular little boy and was
totally spoiled.It was an
emotional day as we looked
back at his first year and
celebrated how far he had
www.rarechromo.org
come. Shortly after his 1st
birthday he was able to sit
unaided and just before
Christmas 2012 he started
commando crawling.
Christmas 2012 was extra
special and it was such a nice
feeling waking up on
Christmas Day at home and
spending the day with our
family rather than being in the
hospital.
When he was just over a year
old he started crawling on all
fours.
In February 2012 his physio
brought him a standing frame
to help strengthen his legs.
Shaun failed his 3rd hearing
test and will be retested
around his 2nd birthday.
Recently he had an operation
to repair his hypospadias and
in a few months we will find
out if it’s successful. Shaun is
now 18 months old and he has
started cruising furniture. He
has no speech yet but the
sounds he makes can get very
loud and he is very good at
being able to let everyone
know when he is unhappy,
happy or excited.
He is such a charming little
boy and along our journey he
has made many friends.
Recently I was asked what is
the biggest achievement of my
life and without hesitation I
told them that my biggest
achievement is Shaun after 3
miscarriages and almost
losing him he has fought so
hard. He gives me a strength I
didn’t know I had and every
day he does something that
makes me smile. Our lives
might have totally changed
and we didn’t imagine we
would be spending so much
time in hospitals, at
appointments or with
therapists but as long as I
have my boy and he is happy
then I wouldn’t change it for
the world.
Ring 9 (with del 9p24.2
and del 9q34.3)
Ellie; aged 4 months
Michelle Lee, New Zealand
Ellie was born @35 weeks after
many complications, scans
and CTGs. From early in the
pregnancy I knew something
wasn’t right, and low PAPP A
showed up in the early scan
showing that baby would be
small and premature. It wasn’t
until Ellie was born that we
noticed she wasn't quite
normal. Her eyes were kind of
Down syndrome looking and
she had a few other
abnormalities, so the doctors
proceeded to do a
chromosome test, which came
back to show that Ellie had
9p24.2 deletion and 9q34.3
deletion.
Ellie was in the Neo Natal Unit
and progressed in leaps and
bounds only being on CPAP for
a short time and under the
phototherapy lights for a short
time. She then began to have
little breast feeds over the
weeks until she was having 3
whole breastfeeds through the
day as well as NG tube feeds.
By this stage she was 3 weeks
old and we were starting to
plan going home until a Friday
night when I was feeding her
and she choked and went blue,
then grey, floppy and lethargic.
At this point I had to stop
breastfeeding her and let her
recover over the weekend, and
then started to breastfeed
again on Monday. She was
doing well still went blue on
the odd occasion but it was
manageable and we decided
this was how she fed. After 5
weeks in the Neo Natal unit
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topics – www.snapchildcare.co.uk/resources.
17
Ellie had reached term and we
were going home, whilst she
was still partly tube fed we
were all confident that Ellie
would be fully breastfed soon.
After 2 weeks at home Ellie
started having sleep apnoea,
so back to the hospital we
went for monitoring and an
overnight oxymetry run. The
outcome was good we were
cleared to go home. More
apnoeas happened but I didn’t
feel we needed to rush back to
hospital. By 10 weeks Ellie
was fully breastfed and still
had the odd blue moment, but
when she would start feeding I
would have to pull her off so
she would breathe and then
catch her breath enough to
carry on, I thought this was
normal as it happened right
from the start and we thought
it was due to lack of
coordination.
At 11 weeks the nurse came
over home to do another
overnight oxymetry run to
follow-up and recheck her
oxygen levels. By this stage
her saturation levels were
dropping down to around 30%,
this caused alarm bells to ring
and they had us back in
hospital 3 days later to do
another overnight oxymetry.
Still she wasn’t saturating well
and her oxygen levels went
down as low as 20%. So the
next morning she was put on
oxygen and monitored. This
showed that Ellie was doing a
lot better and seemed to be
getting enough oxygen and it
also helped with feeding and
sleeping through the day. Tests
18
were done to check for reflux
but didn't show much so I
really pushed for the doctors
to send us to Starship
Children’s Hospital where they
have everything on hand to do
all tests required to get the
answers we needed.The
doctors listened and flew us
straight up to Starship from
New Plymouth, where we are
now and have had the best
team of nurses doctors and
specialists looking after Ellie
and getting the answers we
required. Ellie has had EEG
which showed seizure activity,
X-rays which showed
pneumonia on her lungs,
Barium swallow test (video
fluoroscopy) which showed the
reason for the Pneumonia as
she is aspirating fluids into her
lungs. So then a rigid and
flexible bronchoscopy was
performed to get a good look
into her throat and lungs and
nose. At this time they
suctioned a lot of mucous from
her lungs and she has had no
apnoeas since. This showed
that her left nasal passage is
sealed and her throat has a
few abnormalities which are
contributing to the aspiration.
So now we have the solid
answers we came for and we
are currently waiting for a
gastrostomy button for feeds,
so we get the NG tube out of
her airways to help them
recover for the next stage of
minor surgeries.
It has been a long 14 weeks
since Ellie was born and very
Safety in the car
In a previous magazine we mentioned Christine Davis, who
makes items specific to those with special needs; you
might remember she makes button covers and belts and
bibs. Well now she has come up with an amazingly useful
idea, so we thought she deserves another mention. She is
making seat belt covers. She can embroider anything you
want onto the outside and then on the inside is a little
pocket, so you can enclose details about your child or
adult, or yourself even if you have a medical condition. So if
(God forbid) you were involved in an accident and you were
unable to talk, the emergency services would read the
information on your seat belt cover and know instantly your
medical history. Christine also makes them to go on
wheelchairs/buggies.
Please visit Christine’s page on facebook for more
information: www.facebook.com/christined265. Or you can
email her at [email protected].
emotional and disruptive on
the whole family but it has
bought us all closer together
and stronger as a family. I
would love to be in contact
with other families that have
experienced similar problems
and would love to know if and
where there may be a family
with a child with the same
deletion.
Ellie was still in hospital in
late June. If you want to send
a message to Michelle, please
send it to Beverly at
[email protected] and I’ll
pass it on.
12q24.33 Microdeletion,
Xp11.23
Microduplication
Rebecca Williams;
aged 4 years
Andrée Williams
When Rebecca was born, we
were over the moon, she was
so perfect. She was the result
of our 2nd cycle of IVF (ICSI),
after having tried for a baby for
years.
At the beginning, nothing
seemed out of the ordinary.
But when Rebecca started
nursery at 6 months, it was
obvious she hadn’t reach
milestones that younger
babies could do. We went to
see the health visitor, just to
be told that every child was
different and developed at a
different pace. Well, that’s just
stating the obvious, but it
doesn’t mean we shouldn’t
intervene and help her! After
several other visits to the
health visitor, Rebecca was
referred to a consultant
paediatrician. She was
diagnosed with ‘global
developmental delay’ and the
doctor ordered all sorts of
tests. Rebecca was also
referred to a community
paediatrician who made sure
she had access to all the
therapists and services she
needed: physio, SALT, Portage
and the local special nursery.
I was in shock: the doctors
agreed that there was
something wrong with my
www.rarechromo.org
Small Talk
A new book giving simple ways to boost your child’s
speech, language and communication development from
birth, by Speech And
Language Therapist, Nicola
Lathey and Tracey Blake.
Published Thursday 20th
June 2013 by Pan
Macmillan. ISBN
9780230766433 RRP GBP
£12.99.
Small Talk is a new speech
development book for use
from pregnancy right up to
four-years-old. Many of
you will know Nicola from
our conferences and study
days – she has run
various sessions on
communication for
Unique families.
perfect baby daughter, but
they couldn’t find the cause,
and so couldn’t treat it. At the
beginning, I had a strange mix
of feelings going on inside me.
I was in shock, angry, grieving,
but still happy. Happy because
I had a beautiful girl who was
happy herself. I was so eager
to fix her, but when Rebecca
was around 2.5 years old she
was diagnosed with her
chromosome disorder, and of
course, that can’t be fixed. By
then I had started to change
my mind set; from wanting to
fix her to wanting her to reach
her full potential, whatever
that is. So we put in a lot of
hard work with therapies and
Portage, pushed for a one to
one support at nursery, agreed
to every referral and even
pushed for more, and attended
all appointments.
Rebecca is 4 now. She has
learning difficulties and is very
stubborn. She will only
cooperate if it benefits her
directly. So she’ll give a picture
of a banana to get a banana
(food is a good incentive!). But
placing a ball on the picture of
a ball, just so the speech
therapist can tick a box – can
match picture/object – what’s
the point? She is learning to
walk independently (yeah!),
says one word, is attempting to
say a few more and uses some
Makaton signs. She loves
pictures, books and making a
lot of noise. She loves when we
sing to her while signing.
Her health can be a worry at
times, but is not too bad really.
She has febrile seizures which
can be quite scary, she’s had
chest infections one after the
other, reflux/aspiration, but
luckily meds keep most of her
health issues under control.
Rebecca also has sensory
issues. She loves movement
(and so loves rocking herself,
trampolines, swings, rides…)
but is also sensitive to being
touched. So the daily routine of
washing, dressing, brushing
hair, etc (coupled with her
rocking at the same time!) is
hard work and exhausting. But
when she is not made to wash
or dress, she is so happy and
content. She is still my little
girl who is so perfect.
Rebecca will start school in
September in a special school.
We’ve already met her new
teacher and we are so excited.
It’s the start of a new chapter
in her life. I can’t wait to see
how it unfolds.
Deletion 15q21.2q22.3
Amanda: aged 14 years
Sallie McGrath
Amanda has a genetic deletion
(monosomy) on chromosome
15 (q21.2-q22.3). When she
was first diagnosed in 1999
there was very little
information on her
chromosomal deletion. We
were given one article starting
with “There have been only
four reports of deletions in the
more distal 15q2 region, 2–4
all involving severely
handicapped infants.” Looking
www.rarechromo.org
at the chart two had passed
away by their 3rd birthday.
Discouraging news for new
parents. Amanda not only
survived her third birthday, she
thrived. Although her
development was delayed she
continued to grow and remain
healthy. She started walking at
51⁄2. When tested at age 10 her
development was on par with a
typical 2-year old, causing her
to be classified as “severely
delayed.” Still she was
progressing and, most
importantly, she was healthy
and happy. However, we have
been alone this entire time. We
have never met anyone with a
similar chromosomal deletion.
There are no support groups
when you are one of six known
cases of a disorder. There are
no marathons for financial
support. No special T-shirts or
car magnets. No one to talk to.
Amanda’s life has been a
series of unknowns. Will she
walk? Will she talk? Will she
need surgery for this or that?
Without a network of other
families we’ve just had to wait
and see, always hoping for the
best. I worry because the ages
of the survivors in the paper
we were given were 15
months, 14 years and 18 years
old. The article came out in
1990. The oldest would now be
forty. I hope they are all well,
with happy and fulfilling lives.
But there is no way of
knowing. Recently I’ve noticed
what seems to be a slight
deterioration in Amanda’s
overall health. It is nothing
serious, but enough to concern
me. For instance, last fall she
had several clonic/tonic
seizures (grand mal). I wish I
had someone who had been
through this before me.
Someone who could say, “It’s
okay – it’s just part of the
19
syndrome sometimes.” But I
don’t.
Amanda has always had some
breathing issues. Having been
through multiple surgeries we
know that she takes a while to
come out of it after sedation or
general anesthesia. We expect
it and don’t worry about her
coming back to the room on
oxygen – her pulse oxygen
level in the low 80s. However,
last year after hip surgery she
unexpectedly crashed.
Doctors and nurses rushed
into the room with a big
machine. It turns out she had
actelectasis – her right lung
had collapsed. They moved her
to pulmonary ICU. She got
breathing treatments. Every
few hours she had to go
through percussive therapy.
She was released after five
days in intensive care. She
came home with canisters of
oxygen and a huge, purring
oxygen converter. Later that
year, while sedated for a bone
density scan, she became
cyanotic three times in eleven
minutes. I was in the room
since no one had expected
complications. Watching the
doctor and nurses rush to
clear her airway and provide
oxygen three times was not
fun.
Finally, last week after a
relatively short time under
anesthesia (less than 2 hours)
for a CT scan and MRI she
returned looking cyanotic. Her
nail beds and lips were bluish.
The area around her eyes
looked bluish gray. Her
breathing was obstructed (like
intermittent snoring) even
though she was on oxygen.
There is something extremely
frightening about listening to
your child struggle to breathe.
Breathing is so simple and
fundamental. It’s autonomic;
it’s not supposed to be a
struggle. I wish I knew there
were others who had had
these symptoms as well. I
wish I knew if they are typical
for her condition or if they may
indicate something worse on
the horizon. I've always
considered Amanda one of the
20
lucky ones because she
survived infancy. I assumed
that if she made it past that
critical period she would be
more or less fine. Now, I’m
starting to wonder what to
expect. I wonder how those
other survivors are doing.
What are their lives like? Do
they have the same
symptoms? Have they had the
same surgeries?
I’ve been on a quest to find
other survivors for the past 3
months. I was thrilled to find
two with close chromosomal
deletions. One is a boy with a
nearly identical deletion.
Happily, he is also 13 – and
luckily has far milder
symptoms. He is walking,
mainstreamed in school and
very healthy.
Encouraged, I realized that
where there was one there
might be another. I researched
every rare chromosome group
I could find on the internet. I
believe that I have located four
more individuals with a similar
deletion. That brings the
number of documented
instances of this particular
chromosomal deletion to
eleven! I have no idea how old
these children are or what they
have been through. I’ve been
able to get some contact
information so I’ve reached out
to them. Hopefully they will
respond.
The H.A.R.D. Way
Donna and Neville Staples have been
Unique members for over nine years
and joined us when their first baby
Rebecca was just five months old.
Rebecca had a very rare
chromosome disorder, was a very
poorly baby, needed intense nursing
care and sadly passed away when
she was just nine months old. As
you can imagine, this tragedy
placed a huge strain on the couple.
Donna and Neville have
documented their story in a
memoir called The H.A.R.D. Way which takes readers on a
journey of their experience. They launched the book in May
this year in their hometown of Port Elizabeth in South
Africa and have had an overwhelming positive response.
The book is intended to be inspirational and shows how the
couple have triumphed over tragedy, embraced the lessons
they have learnt along the way and how they have grown in
strength and character.
Today they are blessed with two beautiful healthy girls
Angelica 7 and Holly 4. If you would like to take a look at
their Facebook page: The H.A.R.D. Way by Neville and
Donna Staples you will be able to see the photographs from
the launch, book review, newspaper article, etc. If you ‘like’
their page you will be kept up to date with their story.
The book is available on amazon.com, amazon.co.uk and
amazon.co.eu internationally as a paperback
www.amazon.com/The-HARD-Way-Neville-Staples/dp/
0620557001/ref=tmm_pap_title_0?ie=UTF8&qid=
1369054606&sr=1-1 and as an ebook
http://amzn.com/B00CFEO0P0. In South Africa it can be
found on kalahari.com, exclusivebooks.co.za as an ebook
and can be ordered as a paperback in most Exclusive
Books countrywide.
I hope I hear from the other
families. I hope we can share
stories and provide support for
one another. I am so grateful
that we are not alone
anymore. Maybe we can get
T-shirts or have a marathon
some day.
Idic 15
Mathias: DOB 07/06/2006
Roxanna Ayllon,
Pasaje Valle de la Luna 1451,
Valdivia, Chile
Mathias’ arrival on June 7th
2006 took a lot of expectation
since he had intrauterine
growth restriction (IUGR) and
did not have enough weight or
strength to dilate the cervix.
He handled very well the three
Stress Tests we had but we did
not progress in the natural
delivery we wished to have.
After two weeks of close
monitoring in the hospital, the
Doctors decided to perform a
C-section at 38.5 weeks in
Cusco, Peru.
Our family situation has been
complex while singleparenting Mathias and his
brother since birth. Due to an
unfulfilled promise of reuniting
with their biological father we
moved to Chile and we have
been living here since Mathias
was 17 months. We cannot
leave the country due to legal
issues supporting their
father’s periodical visits.
Mathias does not have
extended family or a social
support system here.
Mathias seemed like a regular
newborn except for being very
hypotonic and gaining weight
very slowly especially during
his first weeks. He reached his
www.rarechromo.org
making steady progress and I
am building from his
possibilities and abilities.
developmental milestones on
time but due to his hypotonia
he usually fell to the floor
when walking, running or
changing directions.
His speech was delayed but
not much, at 24 months he
had a rather small vocabulary
but could be easily understood
by most people apart from me
(I only spoke English to him
and the psychologist
suspected that his delay was
due to that; he currently is
bilingual). His fine motor skills
have been much more affected
compared to his gross motor
ones. Poor fine motor skills
have caused a big delay on
tracing shapes, lines and
eventually letters and
numbers. Due to the above he
is doing Kindergarden for the
second time this 2013 (he
turned 7 yo on June 7th 2013).
I was also told by the
psychopedagogy specialist that
his poor fine motor skills
greatly affected his cognitive
development and learning
processes.
It is very difficult for him to
establish logical cause and
effect scenarios. He is very
creative and proposes
imaginary solutions to
otherwise concrete problemsolving issues. Mathias and his
4 yo typical (he has not been
tested yet) brother attend a
typical school but with very few
students per class (4–5
children) which allows a very
personalized learning
experience, it has been very
good so far this year 2013.
We have moved a lot within
Chile looking for better quality
of life for the boys and that fact
has provided Mathias a much
faster adaptation process
when facing new challenges
(which was extremely hard for
him in the past).
www.rarechromo.org
Both boys attend Kung-Fu
lessons and enjoy riding their
bikes (on ramps!), running,
hiking, they love animals and
nature (as I do) but Mathias is
especially sensitive, sociable
and supportive… he is
wonderful! Mathias
movements are not firm but I
am sure he will eventually
manage his own body. It
breaks my heart when he is in
his “own world” moving as he
is able to instead of following a
Kung Fu class, or when he
proposes his own imaginary
solutions to a simple problem
or when he is invasive to
others personal space when
he greets… But… I know he is
His partial duplication (15q)
and mosaicism was just
recently diagnosed (February
2013) so that also made me to
closely push him as a typical
boy that (I believe) has helped
him achievement of
milestones.
We are extremely grateful for
the support received through
UNIQUE, we do not feel alone
anymore, we feel we have a big
family that also helps us to be
better prepared to face any
challenge that comes across.
Thank you so much.
Idic 15
Teagan Appleby: aged 3 years
Emma Appleby,
122 Rowland Drive, Herne Bay,
Kent CT6 7SD, England
I was told at 16 I would never
be able to have children. After
trying for years to no avail I
The True Colours Trust
In April 2012, The True Colours Trust in the UK launched a
small grants programme for young people between the
ages of 18 to 26 who have a disability and/or complex
health care need. Applications are welcome from or on
behalf of any young person in this age group. Support will
also be considered for families (including siblings) who
care for a young person who falls within this age bracket.
Each applicant must be referred by a medical professional,
social care worker, key worker or family support worker.
This may be a doctor, nurse, occupational therapist,
physiotherapist, GP, social worker, hospice worker, key
worker or family support worker. The referrer must
specifically endorse the item(s) requested. Any
professional assessments, supporting statements/letters,
quotations are welcome. The application must be signed by
the applicant (or parent/ carer on their behalf), the
referring person and the referring person’s senior
colleague.
Applications can be for household items (kitchen
appliances, furniture, clothing, beds, bedding and carpets),
play and exercise equipment, music equipment, computing
and games equipment, mobile phone, leisure activities,
hospital visits, driving lessons, sensory items, jet baths,
holiday, removal costs and funeral expenses. Other items,
recommended by a medical professional or social care
worker, may be considered at the Trustees’ discretion, and
are subject to the Conditions of the Award.
www.truecolourstrust.org.uk/individual-grants-uk/
Call 020 7410 0330 or email [email protected].
eventually accepted this was
the case. I got married and
joined the waiting list for IVF.
As I got a letter confirming I
had reached the top of the list,
I had become quite sick. I then
discovered I was 9 weeks
pregnant. From the day I found
out, I dreaded the worst. I had
accepted I was never going to
have children and was
petrified every day that I was
going to lose my baby. I had an
OK pregnancy. My bump was
big, but I was told it was water.
I developed gestational
diabetes at 33 weeks and was
told to cut sugar out of my
diet. Full term came but no
baby. I was eventually induced
at 41 +5 weeks. Teagan arrived
by emergency C-section as
she got stuck. She weighed a
very healthy 9lb 10oz. Turns
out it wasn’t water after all!
She was absolutely fine and
we were sent home within the
next couple of days. Due to
Teagan being a big baby and
being delivered by Caesarean,
she had to have a hip scan to
check everything was OK. This
was due to be done at 8 weeks,
but I was in the process of
moving and the appointment
was changed to when Teagan
was 12 weeks. The inevitable
happened and she was
diagnosed with DDH
(development dysplasia of the
hip). This news hit me hard
and she ended up having to
have a series of operations to
fix her hip joint. As I was
struggling to deal with this
news, I noticed Teagan wasn’t
developing at the same rate as
some other children. She
wasn’t smiling or focusing.
She wouldn’t flinch if
something came close to her
face. I was concerned about
her eyesight so I took her to
the health visitor.
They examined her quite
closely and were also
concerned. She was
immediately referred to a
paediatrician. At the first
appointment, I couldn’t have
been more shocked. They
assessed Teagan for an hour
and diagnosed her with
21
me for getting this far. I have
just finished Level 1 animal
care at Bicton College of
agricultural I have been there
for 3 years.
I am still playing badminton
with Queens Badminton Club
and really enjoying it. All my
friends are very encouraging
towards me too. I have just
completed a sponsored ‘No
computers or gadgets for 24
hours’; this was my idea, all
my friends and family have
helped to raise money for all of
us. I think I have raised £88 for
Unique. I would love to say I
have raised a lot of money.
I went to my first summer
festival/prom with my college
for the first time with just my
friends and no adult around I
was scared at first but really
enjoyed it.
Cerebral Palsy. I was
devastated. She was then
referred to a local pre-school
team for further treatment.
She underwent a brain scan
and it came back clear so her
diagnosis was then under
question.
Next we had genetic testing
done. This is when we were
informed Teagan has
Tetrasomy for the short arm
and the proximal region of the
long arm of chromosome 15. I
couldn’t believe what I was
hearing. My whole world
collapsed around me. My
beautiful perfect little angel
had just been diagnosed with a
horrible life changing
condition. I was told she would
never walk and never talk. I
can’t remember much about
what happened over those next
few months. I know she had
appointments left right and
centre. It’s all a blur.
Since that diagnosis, she has
proved doctors wrong. She
recently started walking. She’s
very unsteady, but every day is
better. She doesn’t talk, she
has no communication. She
doesn’t sign, she doesn’t even
know her own name. But she
is the happiest, most
22
affectionate little girl I have
ever known and I wouldn’t
change her for the world.
Deletion 20q13.1q13.3
Dee Weiner: aged 19 years
Thank you so much Dee for
fundraising for us and huge
congratulations on gaining an
apprenticeship. That’s
wonderful!
Deletion Xpterp22.31 &
Duplication 5p15.31pter
Winnie Denyer:
DOB 21/10/2008
Gemma Denyer,
15 Chetwode Place, Aldershot,
Hampshire, GU12 4BS,
England
It has been nearly a year since
I last wrote an article on our
lovely Winnie and what a year
it has been. Winnie will be five
in a few months and is growing
in confidence and self
determination every day. She
has come on so much since I
last wrote but has also
underlined a few more issues.
She is now speaking and
linking 3–4 words together. In
February she started to
urinate in the toilet in the day
which was a fantastic
achievement. Winnie still has
to wear nappies throughout
the day as she is still on so
many laxatives as she has
Koolen De Vries Syndrome Deletion
17q21.31 Get Together
Left to right: Sophie, Josh (back), Kynen (front), Leanne (back), Emily (front),
Matt (middle), Isabel, Elliot , Alanna, Katie and Amy.
Hello my name is Dee. I have
been a volunteer at Groomed
to Pawfection for nearly a year
now, and it is at a great
surprise that I have been
offered an apprenticeship
alongside Haddon College, but
I will be working for 30 hours a
week. I am doing a special
Level 2 animal care/dog
grooming course as well. My
mum and all my friends and
family are very, very proud of
The first weekend in May there was a deletion 17q21.31 get
together BBQ in Northampton hosted by a lovely couple
Sara and Alan and yes the sun had its hat on hip hip hip
hurray. It was such a lovely day and great to meet everyone.
Even though we know each other via the online group it’s
always great to meet face to face. The kids/young people
had a great day as you can see from the picture above and
it was amazing to see how very similar they actually are.
Our daughter Leanne at the back with the white cardigan
on is now 18 and would not normally really enjoy a
bbq/party so it was lovely when she seemed so relaxed and
actually said she had had a lovely time and would love to do
it again and never once did the sign for home. Looking
forward to the next get together already.
Mandy Hazelgrave
www.rarechromo.org
chronic constipation and
cannot control her bowels,
which leads to many dirty
nappies. She has had a
number of blood tests to see
what’s happening but
everything so far has come
back fine. Her consultant says
she has a GI which is a bowel
that is normal but for some
reason results in her bowels
not working how it should. No
one seems to know the
answers – all they say is it is
down to her chromosome
disorder and it’s trial and error
with different laxatives to see
what works best. We are not
sure what age she will be – it
could be 2 years or could be
into adulthood but no one
knows which is hard to come
to terms with. It can be very
draining and negative
changing so many nappies at
Winnie's age when you think
by now she should be
completely independent and in
girly pants. I never imagined
my daughter would be going to
big school in nappies and
would need help changing her.
It gets me down lots but just
think it’s nothing compared to
some!
Since I last wrote Winnie has
gone from speaking in single
words to joining 3–4 words
together but this has
highlighted more problems.
She has speech assessments
and it is now said she has a
speech disorder which
presents Winnie with a speech
and language impairment. So
as well as speech that has
become delayed, her brain is
also sending her wrong
signals for her language. She
has great difficulty with her
attention and listening skills
and sensory processing
problems have now been
identified. Winnie will need
courses of therapy through her
school life and in a school that
deals with this condition. We
are really hoping Winnie will
be able to start a phonology
group but this will depend on
her listening skills – fingers
crossed. Winnie does have a
developmental delay in most
areas. I cannot fault her
physical development; at
present she is an active child.
She does have a lot of problem
at times with her fine motor
skills, holding pencils, eating
with knife and fork, taking
clothes on and off. After
months of practice Winnie can
now take off her socks! She
does have sensory problems
too – tip toe walks, rolling of
the eyes, chewing and
mouthing objects, not knowing
how much food to put in
mouth at times and eating non
food items. We have seen the
neurologist at St Georges
London a few times now about
Phelan-McDermid Syndrome UK
Family Day
On Saturday 18th May the Phelan-McDermid Syndrome UK
Family Day took place in North London. Phelan-McDermid
Syndrome is a rare chromosome deletion that affects 75
people in the UK and Ireland and less than 900 people
worldwide. The most common symptoms are very limited
or absent speech and language skills, low tone and
mobility. All those affected by it need 24 hour care. This
year the founder, Dr Katy Phelan who is the geneticist that
discovered this rare deletion attended the Family Day,
along with the president of the foundation Sue Lomas and
attendance sky rocketed! We had over 200 people attending
the day from 9 different countries to meet Dr Phelan and
also other families with children who have this rare genetic
chromosome abnormality. It was the 2nd largest gathering
of this small community in the WORLD! Dr. Katy Phelan
expressed how important it is that families accept the
diagnosis of their children and feel supported by the
International community that exists. Nobody should feel
alone in dealing with this chromosome deletion. The
president, Sue Lomas gave a very moving talk in the mums’
session about how she came to this group not wanting to be
a part of it and yet now she is running the organisation
made up almost entirely of volunteer parents worldwide
and very happy to be part of it!
Jeans for Genes sponsored the day that was held at a local
children's centre. Local businesses, many friendly
volunteers and Camden Early Years Staff gave up their
Saturday to support the event and provide donations. It was
a fantastic event and a wonderful opportunity for families
to get together who are affected by the chromosome
deletion. Sharing stories, things that work for our kids,
seeing the other kids affected makes a huge difference in
our lives and feeling that support from a shared
community. As well, the siblings of these kids got to hang
out together and share time with other kids who know
exactly the pressures of family life with a sibling with
special needs. It's so important to be able to do this
together and to have so many international members
represented made it feel like a worldly day!
Alison Turner and Kelly Jones-Whale
UK Regional Reps
PS We also have a Phelan McDermid Family Day on
Saturday 19th October, at Church House Day Nursery in
Kidderminster, DY11 6RH from 11am until 4pm. There will
be activities and homemade cakes. For further details,
please contact Kelly on [email protected].
www.rarechromo.org
23
Winnie shaking that started at
4 months and that is still going
strong after tests and lots of
observation. They say she has
shuddering attacks and motor
sterotypies which are harmful
to Winnie and are related to
her nervous system and it’s
just her body reacting in a
different way to us. Sometimes
this can zone Winnie out and
affect her balance and
concentration. She still has
poor sleep. We have tried
medication but nothing seems
to work. We are now going up
to St Thomas in London to the
sleep clinic to see what can be
done to help Winnie and us.
Winnie’s sleep issues are
disruptive sleep all through
night, restlessnes, night
terrors, falling out of bed and
sensory overload.
She still sees an orthoptist
every 8 weeks to have tests
done on her eyes for her
intermittent divergent squint.
They monitor her to make sure
her eye doesn’t get any
Tomcat
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Thomas the ability to
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[email protected] | www.tomcatuk.org
24
weaker. The only thing that can
be done is surgery to help stop
her from squinting as much
but I feel she is too young. She
is also short sighted and will
need glasses at some point in
the future. She still attends
her nursery where she has a
specialist place. She has been
there 18 months and we feel
that part of the reason she has
come on so well is down to
them and the intense support
they give Winnie. We are in the
process of getting a statement
for Winnie and hoping to get
her into a specialist unit to
meet all her needs.
Winnie has also now got a
social worker who can help us
get support. We have now
been granted respite and are
in receipt of direct payments
where we buy in our care for
Winnie. This is helping us as a
whole family. Winnie has come
on so much and has developed
into a loving, funny and friendly
personality. She does have
problems in lots of areas but
nothing seems to stop her
shining through. I cannot fault
anyone who works with and
help Winnie because if it
wasn’t for them Winnie
wouldn’t be where she is
today. We don't know what the
future is going to hold for
Winnie or what other problems
medical or developmental may
arise but with our love and
Winnie's strong determination
she will always be on top.
the next two decades, I took
my oldest to the geneticists for
repeated testing to no avail. My
daughter was born when my
oldest son was 8 and she was
beautiful. She did have some
issues that seemed rather
ordinary in the scope of things
compared to the obvious
physical defects her older
brother had. As she grew,
more things became apparent.
When my oldest was fifteen, I
gave birth to another son with
a different father. I knew
instantly that he had special
needs. They weren’t obviously
the same. But a mother just
knows. It didn’t take long
before the doctors suggested a
geneticist, again to no
immediate avail. After some
time passed, I grew more
certain that my boys had the
same thing. However the
doctors insisted they did not.
Mum Kristen writes:
When my youngest was about
seven, they decided they had a
clinical diagnosis for him and
wanted to run the newly
discovered test to confirm it.
Through my insistence, they
did run a panel and not an
isolated test. When the phone
rang, the genetic counsellor
indicated they did not confirm
the diagnosis they were
expecting. Completely deflated
and angry I couldn’t believe
that this was happening again.
But she wasn’t done. Another
gene had come back in the
XLMR study with a mutation.
And if they hadn’t known of my
oldest, they would most
certainly have considered it a
lab error. While he didn’t have
any of the obvious
presentations in the literature
for this mutation, my oldest
son had them all and, “You
were right all along.”
“You Were Right All Along”
The most amazing words I’ve
ever heard. You see, it was
suggested to me that my
oldest son had a genetic
syndrome when he was less
than five. I’ll never forget the
explanation that a syndrome is
considered when two or more
unrelated medical conditions
present in one person. Over
It turns out that with 50% odds
of passing on this X-linked
genetic mutation, I managed
100%. Even my beautiful
daughter is afflicted. At the
time of our diagnosis with a
mutation in PHF8, only 10
other cases were on record in
the world. They call it Siderius
Syndrome. But, every other
mutation on record is a
Siderius Syndrome –
Duplication of gene
PHF8 in Xp11.2
Kristen, Anthony, Amber and
Dennis Kenny, PO Box 40,
Goodrick, MI 48438, USA
www.rarechromo.org
Unique Wristbands in New Zealand
One of our New Zealand local contacts, Michelle Pram, can
be contacted if you want to buy Unique wristbands locally.
She has a supply. Just email her on
[email protected] or message her through
Facebook and she will be happy to help.
deletion of genetic material.
Ours is a duplication of genetic
material. Having a unique
genetic mutation presents
challenges in receiving
treatment and research. I
know that we are not alone
and continue to trust my
instincts and practice my
advocacy.
48XXYY Get Together
By Jocelyn Eldridge
I had been thinking about
trying to organise a UK get
together for some time and
nearly missed the opportunity
as the half term snuck up on
me! But with two weeks till the
date I had in mind I sent out 30
invitations via email and post. I
have now had contact with 13
families from all over the UK.
For some it was too far to
travel, for others it was too
late notice as they were
already busy. However 4
families from Hertfordshire,
Shropshire, Essex and South
London did manage to get
together. We all met at my
house in Hertfordshire on
Friday 31st May at midday, and
were extremely lucky with the
weather, the sun shone and
we were in and out of the
garden. I kept it very low key
the adults chatted and the
children played, with the toy’s
and on the trampoline. After
we had eaten lunch, we went
for a walk over the fields, the
boys and their siblings climbed
trees, trail blazed new
pathways (on the other side of
the hedgerow) and male
bonded. We returned back to
mine for tea and cake, and a
play on the bikes, scooters and
www.rarechromo.org
skateboards. Early evening
came and two families went
home with happy exhausted
children. The following day we
were up and out early, off to
Legoland Windsor. We had
another very busy day and the
children behaved beautifully,
especially as they were so tired
from the sleepover with little
sleep! We lasted in the park
until about 5pm and all four
children were asleep in the
cars shortly after we started
our return journeys! It was
interesting how the XXYY boys
gravitated together and almost
immediately bonded. It was as
though they understood each
other completely and didn’t
have to explain. The siblings
all got on well too. The parents
never stopped talking! And it
was amazing how similar our
boy’s journeys had been, in
particular their learning ability
and educations. They shared
the same interests and it was
uncanny how they had the
same behaviours and
reactions. It was a great
opportunity to share our
individual information, our
understanding of the
condition, medications,
specialists, education, etc. We
all found this meet up to be a
really insightful and helpful
experience and on top of that
Jack now has friends who he
can relate to, I have other
mum’s who understand and
even two dad’s were able to
find out more! I have added a
few comments I received
below.
“It was really really nice to see
you all today. We had a lovely
time. I have been going
through a really hard time
understanding my son for a
long time. But having met you
all, I am now aware that I am
not the only one, and it was
nice to share the similar
experiences and to be able to
ask advice. Thank you very
much. I am really looking
forward seeing you all again
next time. Keep in touch!”
“Well done for starting the ball
rolling; a UK get together
would be wonderful, we had
thought about going to a USA
one but it’s not very practical
right now.”
“We hope it is really successful
and would like to keep in
touch.”
“He had such a great day, so
much so that he hasn’t
stopped talking about it! I still
cannot get over the similarities
of the boys and it makes it
easier to understand their
condition and also to know I
can contact people who
understand. It was lovely to
meet you all I can’t remember
the last time I saw him so
happy we look forward to the
next time.”
“Please let me know how the
get together goes, and maybe
we could attend a future one.”
“I am really interested, my son
would love to meet other
children like him maybe
another time. Please keep me
up to date with any future
meetings.”
“We would be very interested
for the future, please keep us
in mind.”
“Thank you all for a fantastic
time.”
Because this was such a
success we thought we would
do two things.
1) Set up a round robin email
group, where we can share
information, ask questions,
etc. If you would like to be
added to the contacts list for
this then please email me
on the link below.
2) Arrange another get
together on either
Wednesday 28th or
Thursday 29th August. This
can be either at our home in
Stevenage, Hertfordshire
again or if there is another
area that proves closer for
more families then we can
move it to that area.
This will be another great
opportunity to meet other
families who understand, and
for the boys/men to meet others
who share their unusual
chromosone anomaly and for
their siblings to meet up too. If
you are interested in attending
this then please email me
[email protected]
with your preference of date.
Many thanks
25
Our PGD Journey
By Unique Mum, Lucy Beeharry
Since my son’s diagnosis of an unbalanced translocation
between chromosomes 4 and 7, and subsequently my own
diagnosis of a balanced translocation between the same
chromosomes, I’ve chosen to be pretty open about the
abnormalities, the symptoms and the treatments. People have
said that I’m ‘strong’ and that my actions are inspiring – but
really, talking about it to anybody who will listen (and no doubt
a few who just pretend to) is my way of holding it together,
processing things, working things through and trying to find my
own kind of ‘okay’ with it all.
I started with Facebook posts but quickly moved on to a blog –
which allows for more focus and a more defined audience – but
my son is only 2 and a half and I guess at some point it will
become his choice as to whether or not I continue to blog about
him, his treatment and our experiences as a family. So, it seems
only natural that as we make the decision to attempt IVF with
pre-implantation diagnosis (PGD) it is something that I want to
talk about. But for once, I’m kind of lost for words. Perhaps
because I’m scared of it not-working, or because the science of it
all is just so awe-inspiring, I’m really struggling to articulate how
I feel about this stage of our journey.
Following the loss of our daughter 5 months in to pregnancy in
early 2012, we tried naturally for a year, knowing that we would
face CVS and a possible termination. In that time we had another
early miscarriage, almost a year to the date that we learnt that
our daughter’s condition was incompatible with life. The other
months were the usual cycle of a Trying-To-Conceive (TTC)
Addict – grapefruit juice and pineapple cores, bum up on
cushions, ovulation sticks, thermometers, charts… peeing on
sticks, perpetual disappointment. And the ‘BFP’ we were waiting
for wouldn’t have even meant a baby, but a wrenching 9-week
wait for tests and possible heart breaking news.
Following that miscarriage, which we can only assume was due
to another affected pregnancy, we signed the forms to say we
would use a ‘robust form of contraception’ for the forthcoming
year, and returned them to the genetics team at Guy’s Hospital in
London. We are not allowed to try naturally at the same time as
waiting for PGD treatment, due to the investment being made by
the NHS trying to help us achieve a healthy pregnancy. For
anyone reading who does not know of PGD, it refers to the use of
assisted reproductive technology, which is usually used for
couples experiencing fertility problems. In our case, the experts
will obtain my eggs and fertilise them outside my body, and then
a few days later remove one cell from any living embryos and
test the DNA for our family’s unique chromosome abnormality. If
there are any unaffected living embryos left after testing, one is
transferred in to my uterus and we all start crossing our fingers
that it implants and makes our baby. We have recently had the
funding granted for up to 3 attempts on the NHS, via Guys
Hospital in London. This is a little bitter-sweet, as to be eligible
for the funding they consider us not to have a ‘normal’ living
child, as it was explained to us. Such phrasing brings out my
protective-mummy horns, and they’ve not even started pumping
me with hormones yet! Until this month, different primary care
trusts could make local decisions regarding the eligibility of its
residents for NHS funding – up to £9,000 a go – which left us
26
waiting for the last three months for Surrey to make a decision.
But, as of May 2013, there is now one set of criteria that a couple
must meet to be granted the funding, and as we tick the boxes,
we have been told we’re good to go. And so, last week my
husband and I had our blood tests done and had them sent in
priority mail to Guy’s, the site at which there will now be two
months’ worth of scientific DNA-based jiggery-pokery making a
test unique to our family.
The next step will be in to a queue for the actual treatment,
which will be at some point in the next 6–8 months. Whilst this
kind of science sounds too good to be true (somebody actually
asked me this week if I will be using the genetic testing to select
a boy or a girl) the success rate is actually quite low. Whilst my
age is not too much of a concern in terms of egg quality and
whether they are hardy enough to undergo the process – I’m 34 –
overall our chance of success is about 20%. There is also the
chance that I don’t produce eggs for collection, that some eggs
may not fertilise, that all embryos are carrying an unbalanced
form of my translocation, or that even unaffected embryos don’t
survive the ‘biopsy’ procedure by which a cell is extracted to test
the DNA. If you are wondering how I responded to my friend who
asked about gender selection, it was a ‘no’. Though part of me is
terrified that we may have a girl in the future, and the emotions
that may stir in me having lost our daughter 5 months in to
pregnancy in early 2012, we couldn’t know even if we wanted to.
The test that the scientists are making (as I type!) looks only for
abnormalities on chromosomes 4 and 7, no others, no X, no Y. In
fact they won’t even be able to tell if a ‘healthy’ embryo is indeed
totally normal, or whether it has a balanced translocation like
mine. The odds are too low for me to put my life on hold. I have
recently taken a new job that starts in August, just months or
possibly even weeks before I start fertility treatment. I umm-ed
and ahhh-ed for ages deciding whether it’s a really bad time to
start a new job, and in many ways it is, but I tried to fast forward
to the probable reality that we won’t be successful, we won’t
have another child, and at that point I don’t want to look back on
things I walked away from because of a 20% chance.
On the 1-year anniversary of our daughter’s due date, we had an
appointment at the bank to arrange our mortgage. The advisor
ran through the standard questions, checking our financial
security, and asked, “so, your son is two… will you be having any
more children?” My heart skipped a beat, just one, and I looked
him in the eye and said, “probably not.” And that’s where we are
now. I’m trying to keep my head screwed on. I’m trying not to
picture our son playing with a future sibling. I’m giving away the
clothes he grows out of and have stopped considering the value
of new purchases based on two or more children getting use
from them. But last week, my heart raced just getting a blood
test – I dread to think how I will be if we are lucky enough to get
embryos to implant. Deep down, I’m still longing for my third
child.
Good luck Lucy. Please do let us know how you get on.
www.rarechromo.org
Advocacy
By Marion Mitchell, Family Support Officer
What is Advocacy?
An advocate can help you:
• To speak up
• Know your rights
• Listen to you
• Help you to make choices
Advocacy Partners
T: 0845 0175 198 or 020 8330 6644
www.advocacypartners.org/imca.html
Advocacy Partners is leading the development and delivery of
independent advocacy services in London and the South East. We
enable people with learning disabilities, older people and people
with mental health needs or physical impairments to have rights
that are respected, voices that are heard and real control over
life decisions. We support people to be treated fairly and to
participate fully in community life. Advocacy Partners currently
provides the IMCA service in; Camden, Croydon, Islington,
Kingston upon Thames, Richmond, Lambeth, Lewisham, Merton,
Sussex, Kent, Sutton, Surrey, Tower Hamlets and Wandsworth
and in other areas with agreement.
Action for Advocacy
T: 020 7820 7868
www.actionforadvocacy.org.uk
Advocacy is taking action to help people say what they want,
secure their rights, represent their interests and obtain services
they need. Advocates and advocacy schemes work in partnership
with the people they support and take their side. Advocacy
promotes social inclusion, equality and social justice.
The Advocacy Project
T: 020 8962 8695
www.advocacyproject.org.uk
Together
NATIONAL OFFICE
T: 020 7780 7300
www.together-uk.org/index.asp?id=19
• advocacy services – supporting people with mental
health problems to make their views heard
• assertive-outreach services – reaching out to those
who find it hard to use traditional mental health
services
• community-support services – supporting people with mental
health problems in their own homes
• residential services – including care-homes giving 24-hour
support, high-support residential services, and independent
flats with visiting support
• day-support services – offering a non-threatening
environment where people with mental health problems can
make new friends and learn new skills
• employment and work-training schemes – getting people
back to work through skills-training or personal-development
services
• forensic services – for people with mental health problems
who have been in contact with the criminal-justice system
• services for carers – supporting those who care for people
with mental health problems
• Service-user Involvement Directorate – giving people with
experience of using mental health services a say.
National Youth Advocacy Service
T: 0151 649 8700 99-105
www.nyas.net
NYAS is a UK charity providing socio-legal services. It offers
information, advice, advocacy and legal representation to
children and young people up to the age of 25 through a network
of over 150 advocates. NYAS is also a Community Legal Service.
PohWER
T: 0300 456 2370
www.pohwer.net
POhWER services are independent, free and confidential. There
is no upper age limit for POhWER services but a lower age limit
may apply for some services. Advocacy Support Centre is open
from 9am to 5pm Monday, Tuesday Wednesday and Friday, and
from 9am to 7pm on Thursdays.
NORTHERN OFFICE
T: 0113 244 6992
Together supports around 3,500 people through 100
different mental health services across the country.
We provide our mental health services by working in
partnership with many other organisations, including
housing associations, health trusts, local authorities,
criminal-justice agencies and private- and other
voluntary-sector bodies. Our most important partners are
the people who use our services. We believe in working
with people rather than doing things for or to them. And
inspired and informed by our unique values, we run a full
range of different types of mental health service,
including:
www.rarechromo.org
27
Coping with the stress of having a child with a chromosome disorder can be
tough at times. You or your child may suffer from anxieties, phobias or
depression. Here are some links to a few organisations that offer specific
advice on these subjects.
Anxiety and Stress
By Marion Mitchell, Family Support Officer
Anxiety Alliance www.anxietyalliance.org.uk/
0845 2967877 from 10am–10pm everyday.
The Anxiety Alliance is a charity dedicated to helping those
suffering from anxiety.
Anxiety Care www.anxietycare.org.uk/
Is a registered charity based in East London that specialises in
helping people to recover from anxiety disorder and to maintain
that recovery.
For those that suffer from a dental phobia
www.dentalfearcentral.org/
• Anyone (worldwide) with an extreme phobia of dentists
• Anyone with specific dental fears
• Dental professionals and dental students with an interest in
dental anxiety management
Bipolar Scotland www.bipolarscotland.org.uk/
0141 560 2050 or [email protected]
Just be well www.justbewell.com/stress-relief-carers.html
Hypnotherapy and NLP to Help With Stress Relief for Carers.
Mind www.mind.org.uk/
The leading mental health charity in England and Wales working
to create a better life for everyone with experience of mental
distress.
No Panic www.nopanic.org.uk
Helpline (freephone) 0800 138 8889 (10am–10pm every day).
No Panic specialises in self-help through telephone recovery
groups, because most people don’t have a local face to face
group or they find getting to such a group a problem in itself.
Membership, which costs only £12.00 per year, for UK residents.
• Provides a confidential help-line, 0800 138 8889, 10am–10pm,
every day, staffed by trained volunteers.
• Provides a night-time anxiety crisis telephone line,
0800 138 8889, (answer-phone service only).
• Provides telephone recovery groups.
• Provides a “Contact” book service for members wishing to
make pen-pals.
• Provides literature, books, CDs and DVDs to help overcome
anxiety disorders.
• Provides written recovery programmes for phobias and OCD.
Simple, easy to follow step by step guides.
• Provides advice and support for people trying to come off
tranquillisers.
• Provides information to raise public and professional
awareness of the problems created by anxiety disorders.
• Provides lay-person self-help cognitive behaviour therapy as a
basis for recovery.
• Provides information and support to families and carers of
sufferers.
• Provides information in ethnic languages.
• Provides information on starting and running a local face to
face group.
28
OCD Action www.ocdaction.org.uk/
Helpline: 0845 390 6232/020 7253 2664
Helpline email: [email protected]
National charity for people with Obsessive Compulsive Disorder
and related disorders such as Body Dysmorphic Disorder,
Compulsive Skin Picking and Trichotillomania.
OCD Action’s vision is of a society where OCD is better
understood and diagnosed quickly, where appropriate treatment
options are open and accessible, where support and information
are readily available and where nobody feels ashamed to ask for
help.
www.ocdaction.org.uk/home.htm
OCD-UK www.ocduk.org/
A charity for sufferers of OCD. It aims to bring the facts about
OCD to the UK public, and to support those who suffer from this
often debilitating anxiety disorder.
OCD-UK is the leading national charity, independently working
with and for people with Obsessive-Compulsive Disorder (OCD).
www.ocduk.org/
For young people with OCD www.ocdyouth.info/
US based website: www.freedomfromfear.org/
Relaxation for Living www.rfli.co.uk/
RFLI provides practical and simple self-help techniques to help
with relaxation, stress, anxiety, mild depression and stress
related health problems.
Royal College of Psychiatrists www.rspsych.ac.uk
A range of useful leaflets and information for families.
SANE www.sane.org.uk/resources/contact_us/
Is a national mental health charity which aims to raise
awareness of mental illness and campaign to improve services
and initiate and fund research into the causes of serious mental
illness.
The BABCP is the lead organisation for Cognitive Behavioural
Therapy in the UK www.babcp.com/
Cognitive Behaviour Therapy (CBT) is a talking therapy. It can
help people who are experiencing a wide range of mental health
difficulties. What people think can affect how they feel and how
they behave. This is the basis of CBT. During times of mental
distress, people think differently about themselves and what
happens to them. Thoughts can become extreme and unhelpful.
This can worsen how a person feels. They may then behave in a
way that prolongs their distress.
CBT practitioners help each person identify and change their
extreme thinking and unhelpful behaviour. In doing this, the result
is often a major improvement in how a person feels and lives.
www.rarechromo.org
The Depression Alliance www.depressionalliance.org/
0845 123 23 20
The Samaritans www.samaritans.org/
08457 909090 or [email protected]
• Samaritans Scotland 0131 556 7058 or
[email protected]
• Samaritans Wales 08457 909090 (24:7)
Welsh Language Line 0300 123 3011 (from 7pm–11pm only,
7 days a week)
• Samaritans' Ireland office +353 1 6710071
Wind Down www.winddown.co.uk/
WindDown was formed to offer a unique reference point on
coping with stress and winding down.
Young Minds www.youngminds.org.uk
YoungMinds provides information to parents and professionals. It
produces leaflets on various topics, a directory of child guidance,
psychiatric and psychological services and a newsletter.
Local Facebook Groups
We have two new additions to our local facebook groups,
since mentioning our others in the last Unique magazine.
They are:
• Unique Australia
www.facebook.com/groups/437965836291165/
• Unique Europe, for all European parents whose first
language isn’t English
And here is a reminder of the links for the others:
UK
• Unique South West England
www.facebook.com/groups/uniquesouthwest/
• Unique West England
• Unique Sussex, Surrey, Kent
• Unique London
www.facebook.com/#!/groups/172738426159707/
• Unique Home Counties North
• Unique Yorkshire
• Unique Hampshire, the IOW, East Dorset
• Unique West Midlands
www.facebook.com/#!/groups/132591080161104
• Unique East Midlands
www.facebook.com/#!/groups/uniqueeastmids/
• Unique NE England
• Unique NW England
• Unique East Anglia
www.rarechromo.org
• Unique Scotland
• Unique Wales
• Unique Northern Ireland
Europe
• Unique Republic of Ireland (ROI)
• Unique Europe (new)
America
• Unique Midwest USA
www.facebook.com/groups/uniquemidwestusa/
• Unique NW USA
www.facebook.com/#!/groups/uniqueswusa/
• Unique SE USA
• Unique NE USA
• Unique SW USA
Canada
• Unique Canada
New Zealand
• Unique New Zealand
South Africa
• Unique South Africa
29
Christmas Cards 2013
NEW
!
design
NEW
!
design
NEW
!
design
Angels of Peace
Ho Ho Ho
Robin in Frost
128mm x 128mm
128mm x 128mm
128mm x 128mm
NEW
!
design
Twin pack consisting of
Christmas Baking and
Traditional Christmas
Pudding
and Gifts
Sil
W icon
e
Bl rist
On ue/ ba
e Yel nd
siz lo
w
e
A Festive Scene
A Warm Welcome
Carols around the tree
174mm x 118mm
150mm x 150mm
141mm x 141mm
REDUCED
Deer in a snow covered
landscape
REDUCED
Natures Way
Snowpark
150mm x 150mm
160mm x 160mm
Lap
Ba el Pi
dg n
es
5 cards of each design in one
pack, 150mm x 150mm
r
ke s
c
o g
/L yrin
y
e
ll Ke
Tro oin
C
141mm x 141mm
30
www.rarechromo.org
ORDER FORM
Description
Quantity
Cost
Postage and Packaging
UK
Angels of Peace
10 cards in each pack all one design @ £3.80 per pack
Greeting: With Best Wishes for Christmas and the New Year
1–6 packs
7–10 packs
11–15 packs
Ho Ho Ho
Greeting: Happy Christmas
£3.00
£6.00
£10.00
For orders of more than 15
packs, please contact us for
a price.
Robin in Frost
Greeting: Season’s Greetings
OVERSEAS
Christmas Baking and Traditional Christmas Pudding
10 cards in each pack – 5 of each design @ £3.80 per pack
Greeting: Best Wishes for Christmas and the New Year
1–3 packs
£5.00 £7.50
4–7 packs
£8.50 £15.00
8–10 packs £12.00 £18.00
A Festive Scene
For orders of more than 10
packs, please contact us for
a price.
A Warm Welcome
Greeting: Merry Christmas and a Happy New Year
Please complete and return
the order form with your
cheque made payable to
‘Unique’ and send to:
Europe
Carols around the tree
Rest of
World
Gemma and Craig Mitchell,
Unique, Unit G2, The Stables,
Station Road West, Oxted,
Surrey RH8 9EE, England
T: 07753 566907
Deer in a snow covered landscape (reduced)
Greeting: With Season’s Greetings and all Good Wishes for the
New Year
You can also purchase cards
through our online shop at:
www.christmascards.org.uk/unique
Nature’s Way
Greeting: Season's Greetings
Snowpark (reduced)
Silicone Wristband – Blue (no p&p charge for up to 6 @ £2 each
purchased WITH Christmas cards)
Silicone Wristband – Yellow (no p&p chargefor up to 6 @ £2 each
Lapel Pin Badges (no p&p chargefor up to 6 @ £2 each
Trolley/Locker Coin Keyring (no p&p charge for up to 3 @ £2 each
Sub Total
Donation
If you are a UK taxpayer, remember to sign the gift aid declaration.
(We are only able to claim gift aid on additional donations)
Total
GIFT AID
PLEASE WRITE CLEARLY
If you are a UK taxpayer, for every £1 you donate Unique can claim
an extra 25p from the taxman if you sign this Gift Aid declaration.
Mr/Mrs/Miss/Dr/other
Address
INDIVIDUAL GIFT AID DECLARATION
I wish all donations I make to Unique on or after the date of this
declaration to be treated as Gift Aid donations
Postcode
Telephone (including std code)
Signature
Mobile
Date
Email
www.rarechromo.org
31
W H O T O C O N TA C T
You should contact Craig if:
To make life easier for you we have listed below the
person best to contact for our different services. If
we are not at our desks when you call, please
leave a message and we will get back to you as
soon as possible.
You should contact BEVERLY if:
•
•
•
•
•
•
•
• You haven’t yet received your initial letter
from Beverly with information about your
child’s rare chromosome disorder and links
to other families (please allow up to 28 days
from first contact with Beverly).
• You want up to date lists of relevant families
on the database who want contact.
You want information about a specific rare chromosome
disorder.
You have any queries about your database entry
You have been sent a database entry form and you have any
questions about it. (Please return completed forms to Beverly).
You have any technical questions about medical or genetic
matters relating to your child’s disorder.
You would like any information on other matters related to your
child or yourself eg if you need an address for other useful
organisations.
Any queries relating to the Unique website.
You would like a piece included in the Unique magazine.
Beverly Searle – Chief Executive Officer
PO Box 2189, Caterham CR3 5GN, UK
T: +44 (0)1883 330766 | E: [email protected]
Skype: rarechromo
•
•
•
•
•
•
•
•
Craig Mitchell – Chief Operating Officer
Skype: craig.mitchell19
You should contact MARION if:
If you need to find out something and you can’t see it listed here,
please contact Beverly.
You should contact JENNY
in Beverly’s absence:
Jenny Hague – Information Officer
•
•
•
You should contact Sarah if:
• You would like any of our information guides
on specific rare chromosomes disorders.
• You would like copies of papers published in
the medical literature.
• You want to help translate any of our guides
or contribute to new guides.
Sarah Wynn – Information Officer
T: +44 (0)203 211 1098
You should contact JENNY:
• For any queries about Unique’s accounts or
finances.
• You would like to fundraise for Unique by
taking part in or organising you own event,
including the London Marathon, Great
North Run and others.
• You have any queries about how to set up an
online fundraising page or collect
sponsorship both online and offline.
You would like to make a donation to Unique or send in
fundraising monies.
You can help Unique receive grants or access other funding
opportunities.
You have ideas or skills to help us develop Unique, including IT
skills, website design, creative, marketing, PR, finance or
fundraising skills.
You can help us to raise awareness of Unique and rare
chromosome disorders.
You think your employer may be able to help us either
financially or through gifts or other benefits in kind.
You have any questions, comments or suggestions about the
Unique conference or can help with organisation.
You would like a copy of our annual report and accounts or
have any questions about the management of the charity.
You have any comments or suggestions about how Unique is
run, the services we offer and how we might look to develop
the charity in future.
•
•
•
•
•
•
• You haven’t yet received your information
pack containing our guide to rare
chromosome disorders (please allow 14–21
days from first contact with Beverly).
• You would like a copy of our Little Yellow
book or Unique Tales.
• You would like a back issue of the magazine.
You are a professional and need supplies of leaflets/posters.
You would like to become a Local Contact for your area or, if
you have any questions about becoming a local contact or want
to know who your nearest one is.
If you are already a Local Contact and you need some more
leaflets/posters, etc.
You would like any fundraising/publicity items, eg balloons,
leaflets, posters, sponsorship forms, etc.
If you would like wristbands or ID cards.
You would like a Unique pyramid collection box or you have any
questions related to the collection boxes.
You need practical information, eg information on grants,
trikes, special needs equipment, etc.
Information about our social networking sites.
You cannot get in touch with Beverly and your enquiry is urgent.
Marion Mitchell – Family Support Officer
Skype: marionatunique
Jenny Knight – Finance Officer
T: 07811 908696 | E: [email protected]
32
www.rarechromo.org

Read Victoria`s inspirational story on page 15

Transcription

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