Spring 2015 - Families of SMA Canada

Transcription

www.curesma.ca
WINTER / SPRING 2015
FAMILIES OF SPINAL MUSCULAR ATROPHY CANADA SOCIETY
.....................IN THIS ISSUE
News From Your FSMAC Head Office.......................................................................................... 1
SMA Family Adventure Camp - East.......................................................................................... 2
www.curesma.ca
SMA Family Adventure Camp - West.......................................................................................... 4
Birthdays - Fundraising From The Heart!.................................................................................. 6
Fundraising........................................................................................................................7 - 14
2014 & 2015 International SMA Conference News ................................................................. 15
Canadian Chapter News & Events...................................................................................16 - 17
Research..........................................................................................................................18 - 23
Upcoming Events.............................................................................................................24 - 26
Celebrating Our SMA Families - Grads!...........................................................................27 - 30
Parent to Parent...................................................................................................................... 31
I CAN!..............................................................................................................................32 - 35
Sharing............................................................................................................................36 - 38
Resources and Support....................................................................................................39 - 43
Show Your Support.................................................................................................................. 44
OUR BOARD MEMBERS
Bettylou Ross of Guelph, Ontario, mother to Ricki Lee, Ben, Daniel (type 1 angel), and Bernie (type 2 SMA).
Aniello Cavallaro of Montreal, Quebec, father to Julianna and Sammy (type 2 SMA).
Theresa Van Fraassen of Toronto, Ontario, mother to Luke, Rachel, Rebecca (type 2 SMA).
Andrea Lavallee of Meadow Lake, Saskatchewan, mother to Dallyn, Bailie, Max (type 2 SMA) and Genvieve.
Angela Mosco of Calgary Alberta, mother to Evan (type 2 SMA).
Sarah Cheung of Vancouver, BC, (type 1/2 SMA).
EXECUTIVE DIRECTOR
Susi Vander Wyk of Chilliwack, BC, mother to Dexter, Holli (type 2 SMA) and Amy.
ON OUR COVERS
Front Cover - Emile et Elli Demers, Quebec
Back Cover - Charlotte Nataraj
- Zipper Pulls made by Natalie McDonald and friends, Ontario
103 – 7134 Vedder Road, Chilliwack, BC Canada V2R 4G4
Toll Free 1-855-824-1277
NEWS FROM YOUR FSMAC HEAD OFFICE
Your New FSMAC Board Member
Meet our new FSMAC board member, Sarah Cheung. Sarah lives in Vancouver, BC
where she attends UBC, majoring in Biopsychology.
Thank you
to our outgoing board member, Leah Sidora for the time she
spent on the FSMAC Board. We wish Leah and her family the best of health and
happiness.
Your FSMAC Board Members…
Aniello Cavallaro – Quebec
Bettylou Ross – Ontario
Theresa Van Fraassen – Ontario
Andrea Lavallee – Saskatchewan
Angela Mosco – Alberta
Sarah Cheung – BC
Changes in the FSMAC Head Office
We would like to introduce you to Heidi Struys who is now working in the FSMAC head office.
Heidi is an aunt to Holli Vander Wyk and Susi’s sister. She brings along her office experience
as well as working with the public. Her family has been volunteering in the SMA community
for many years. She looks forward to working with our SMA family on a national level.
We know you’ll find Heidi to be wonderful to work with. Please connect with her for any
fundraising or accounting needs.
We wish Bonnie Alton all the best as she moves on to
full-time employment in their family business.
Families of SMA Canada
– Supporting Families
FSMAC is happy to announce that we
are now purchasing Car Beds for our
Type 1 families through their local
Children’s Hospitals.
Our Type 1 children can now ride in
vehicles safely and comfortably! This is
an important achievement in Canada
as we have been working on bringing
the Hope Car Beds to Canada for
several years now.
We have already had eight families
receive car beds!
Khloe Belyea all snuggled in safe and cozy in her Car Bed!
Benjamin Landry from Marieville, Quebec,
happy and comfy in his new Car Bed!
Seen here with his father, Vincent Landry.
FAMILIES OF SMA CANADA SOCIETY
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1
SMA FAMILY ADVENTURE CAMP - EAST
Ontario Camp
After months of planning and lots of hard work we rolled out the first SMA Family Camp in Ontario! We had a great location
just north of Toronto at Upper Canada Camp and we hosted 15 families (70+ people!!!) for four days in August.
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SMA FAMILY ADVENTURE CAMP - EAST
Congratulations on a very successful 2014 Camp!
SMA FAMILY CAMP ONTARIO 2015
SMA Family Camp Ontario 2015 will be held July 16-19, 2015 at Upper Canada Camp.
This years theme will be a Western Rodeo - Yee Haw!
More details and registration to come in the spring.
Questions can be directed to [email protected]
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SMA FAMILY ADVENTURE CAMP - WEST
Another Great SMA Camp at Cultus Lake, BC
The 14th SMA Family Adventure Camp was, once again, held in beautiful Cultus Lake, BC from August 6 - 12, 2014. The weather
was beautiful, we shared new memories and adventures, laughed together at the Moms Only Spa Afternoon (and what a treat THAT
was!), sent the Dads on their Annual Golf Evening, made ceative crafts, learned to paint like Vincent VanGogh, ate way too much
ice cream (if there is such a thing as too much ice cream!), climbed, canoed and biked with our wonderful CRIS gang, bombed each
other at our never-miss Marshmallow War, and then as a surprise outing – spent the afternoon and evening at the VanderWyk Family
Farm! Susi and her family generously hosted all of us for a Corn Roast and BBQ, horseback riding, quading, and a hay-ride around
the beautiful area they call home.
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SMA FAMILY ADVENTURE CAMP - WEST
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BIRTHDAYS - FUNDRAISING from the HEART!
Alex Starratt has made a special donation to FSMAC. This generous
young man has asked for stuffed animals from his friends for his birthday, donating them all
to the newly diagnosed packages! A great idea, Alex, and appreciated by the lucky children
who will receive them.
December 2014
Alex turned 6 this year! At his birthday party with friends they watched “Penguins of Madagascar” and had
cake and completed a craft in the party room. He and 17 of his classmates had a blast!
We encouraged families to bring small stuffed animals, puppets, and gift cards for Families of SMA new
diagnosis care packages, in lieu of a birthday gift.
We were overwhelmed and grateful by the response of the kids in his class. We were also very proud of Alex
for donating these gifts to Families of SMA Canada. Please find enclosed a cheque for $250.00 from the
Starratt Family Foundation, and a box full of stuffed animals and gift cards. We truly hope they can find
homes with families going through the process of a new diagnosis of SMA.
Sincerely, Alex, Jen and Mark
Derek Hartley
A big Thank you to Derek
We would like to thank Ayden
Alibhai for donating his birthday
money to Families of SMA Canada
again! Ayden has a very tender
place in his heart for his friend
Maliyah Chung who has SMA type
2. What a special young man and
how fortunate Maliyah is to have
a friend that cares about her so
much!
Hartley for asking for donations to
FSMAC in lieu of presents for his 9th
birthday! Derek’s cousin, Brooklyn
Marx has SMA. Thank you Derek for
donating $215! I know that Brooklyn
and her family are so proud of you.
We are too! We know that you will do
wonderful things in life with a heart
as big as yours!
Thank you Ayden! We will put your $170
towards SMA camp!
Raihan Chung
had a birthday party and did not want his friends to bring
presents, but rather a donation for FSMAC! Raihan donated $400 to FSMAC in his sister Maliyah’s
honor.
Thank you
Raihan, you have touched our hearts with your generosity! We are sure your
Mom and Dad are very proud of you, we sure are!
Maliyah Chung requested donations to FSMAC for her birthday. She says
she would like to run and jump one day and is determined to help make that happen with a
donation to research! Awesome job Maliyah!
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FUNDRAISING
Ongoing FSMAC Fundraiser - Yes You CAN!
We now have donation cans for distribution.
Please contact us to order a few
cans to display at businesses that you frequent. It’s easy! Just ask to leave the can on their
counter and pick it up one month later. Change the cash to a personal cheque and mail us
the cheque. Participating in this fundraiser as a group can have a huge impact on donations
to the charity and ultimately helps us help YOU!
To order your cans, simply email Susi Vander Wyk at [email protected]
We are so appreciative of your help!
The Little Grape that Could
The Little Grape that Could is a non-profit wine company founded in Toronto by a
wonderfully generous team of skilled volunteers. 100% of profits from the sale of
each bottle of wine go to the charity of your choice.
BUY. CLICK. GIVE.
Make Every Little Grape Count!
Every bottle celebrates a real person.
How it works…
1. Read the Rave Reviews about our Wine
2. Purchase a bottle of our Critically Acclaimed Wine
3. Go to the “Choose a Charity Page” and input the code on the back of your bottle
and select the charity which will receive the donation.
4. Make a toast to the person on the back of your bottle!
100% of our profits from each bottle sold go to charity. Thank you Brett Preston, founder of The Little Grape That Could
for your vision and generosity! You are making a difference in our world!
To date The Little Grape That Could has raised $300 for Families of SMA Canada! Families that have purchased it say
the wine is excellent! To find out more, go to their website at www.thelittlegrapethatcould.com
Donate a Car Canada
Donate A Car Canada accepts vehicle donations for Families of SMA Canada. To donate
a car, truck, RV, boat, motorcycle or other vehicle to Families of SMA Canada, go to www.
donatecar.ca. We provide free towing in many areas across Canada, or you can drop off
your vehicle to maximize your donation. When you donate your car at www.donatecar.ca,
it will either be recycled or sold at auction depending on its condition, age and location.
Donate A Car Canada will look after everything to make your donation easy for you to
support Families of SMA Canada.
DONATE NOW at www.donatecar.ca and Families of SMA Canada will send you a tax receipt after your car donation is complete!
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FUNDRAISING
Angel Gala for SMA – Halton Hills, Ontario
Cheryl Vallender put so much effort into organizing and executing this annual event! With the help of
some amazing volunteers, and attending families, friends, colleagues and neighbors, she was able to
raise $19,000 for FSMAC!
Cheryl and her husband, Sam have run this event in memory of their precious
son, Max. They have the hero status in our eyes. They continue their fight to
bring awareness and raise funds to support Canadian families and fund
research. Without families like theirs, FSMAC wouldn’t exist.
Thank you for all of your sacrifices
as a family to put on this event! Also
thank you to all the attendees,
donors and volunteers!
Family Day in the Park – Saskatoon, Saskatchewan
The event was such a success! It was also so nice to have a gathering as an excuse to get families affected by SMA together! There
was a total of 5 persons with SMA present at the event. But more than anything, it was just so wonderful to see all the kids have
such a fun time!
Thank you to the wonderful Erin Ehmann for her dedication to making a difference for those affected by SMA and
working so hard to put on this amazing event! Also thank you to Erin’s good friends, the Nataraj family, for everything you did to
make this event happen. They raised $9,000!
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FUNDRAISING
Edmonton Walk ‘N’ Roll 2014
Thank you to Hali Harapchuk for holding her annual SMA Walk ‘N’ Roll in Edmonton, Alberta.
Hali holds this fundraiser annually, in memory of her beautiful angel, Kaitlyn. When parents make such an effort to save other
families from the loss they endured, it is a gift of great kindness and love. They do it in spite of the pain it brings, but still they do it
for others. Thank you Hali for giving us all HOPE!! Hali’s 2014 event raised $5600!
Thank you to all that attended and supported this event!
PEI 4th Annual Walk ‘N” Roll
The Gallant family held their 4th Annual Walk ‘N” Roll on
Prince Edward Island!
Thank you Jaclyn, Randy,
Micah and Maia
for spreading awareness and raising $1500 in 2014!
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FUNDRAISING
Georgia’s Journey of Hope 5k Walk/Run
Held in Winnipeg, Manitoba in September, this annual event raised a whopping $26,000.
The Lucas family… such a special family. You humble us every year, you make us want to
be better people. Every year, Mike and Kristen Lucas hold a fundraiser in memory of their
beautiful angel Georgia. Every year their fundraiser is one of the reasons we are able to make
a difference for Canadian families.
Thank you Lucas family
and thank you to your
many supporters!
Photos by Lindsay Berger
Joanne & Rick Yuke – Familes Supporting Families
Joanne and Rick Yuke continue to support our Canadian families! They work hard all year long with
several fundraisers. They spread awareness and make a real difference in our Canadian family’s
lives. They do it all in memory of their beautiful daughter Hannah. They spend precious energy and
time to impact others.
We just can’t thank you enough
Joanne and Rick along with your many helpers
and supporters!
Their fundraisers included a Hamburger Drive, where they made and sold frozen hamburgers, a
Cabbage Roll Fundraiser, making and selling literally thousands of cabbage rolls, and selling chances for a pair of Westjet tickets,
and their big evening, Hannah’s Gala which is held in January annually. Simply amazing!
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FUNDRAISING
Veggies for Georgia – Saskatoon, SK
The family farms of Bryan and Joan Haskey (grandparents of Georgia and Charlotte Nataraj) and Chad and Shaun Haskey (Uncle and
Aunty of the aforementioned girls) planted, grew and harvested vegetables from their gardens for the community of Wadena, SK. On
September 4th, they set up shop in the parking lot of the local grocery store that graciously permitted them to do so. They gave all the
vegetables away, and then asked that people consider donating to FSMAC. People were overwhelmingly generous!
What a great idea! Thank you Bryan, Joan, Chad and Shaun!
Our deepest sympathies on the recent loss of Bryan Haskey. Our very best to his loving family and friends.
Finley’s Fun Run!
Held in August 2014, just a month and
a half after Finley was diagnosed, we
gathered as close family and friends
to recognize and acknowledge this
new diagnosis and the challenges it
presents. It was a wonderful evening
of healing filled with tears, hugs and
laughter. We’re so blessed to be so
loved and supported.
Oh! And we chose the colour yellow as
Finley is nothing but a cheerful ray of
sunshine!
http://finleysbucketlist.blogspot.ca/
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FUNDRAISING
Cure SMA at Little Rock Farm 2014
A
nd so our journey with SMA continues and we write
another chapter of our story this May 3rd with our third
attempt at raising both money and awareness for Spinal
Muscular Atrophy and Families of SMA Canada. We are the
extended family, Mother, Father, Grandmothers, Grandfather,
Great Grandmother, Aunts, Uncles and friends of Mason Stewart
who was diagnosed with SMA Type 3 just before his second
birthday in the spring of 2011. In 2011 we organized our first
fundraiser, still feeling shell shocked by the diagnosis and not
fully understanding what a diagnosis of SMA meant and how
much we would still have to learn, we are a family full of “doers”
and hosting a fundraiser seemed to be something that we could
have control over, and could in some way be helpful.
Our first fundraiser, in the fall of 2011 raised $21,213.00, and
the second in 2012 raised $15,301.00. 2013 saw Mason’s
parents Jenna and Eddie get married and Mason welcomed a
new cousin, Ava, which put our fundraising efforts on hold for
a year.
But we’re back this year with a bang. We have a new title, Cure
SMA at Little Rock Farm. Little Rock Farm is the family horse
farm located between Perth and Smiths Falls ON which Mason’s
grandmother, Amy Himmelman owns and operates and is where
Mason and his family live. This is a pretty special place where
kids and their families “from all walks of life” come and will
spend the day being on a farm surrounded by horses, and it is
in this spirit of community and friendship that our fundraiser
this year has grown from.
This year saw the emergence of a fundraising committee, with
more people who were so passionate and just wanted to in some
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way be involved. We met on Wednesday evenings around the
kitchen table at the farm and as these meetings went on we saw
the emergence of a new leader. With Mason’s mom Jenna taking
the lead on sharing what her vision for the fundraiser could be
and working diligently to bring that vision to life. “We need to
have FUN! We need to let people know about all the research
that’s going on”. “No tears”. With the driving message we
all heard, that “Mason may have SMA, but SMA doesn’t have
Mason.”
This year saw our fundraiser grow. We had 56 pledge raisers
and over 100 people who walked a 5km walk (which may or
may not have actually been a 7km walk around a “country
block”), with pledge money alone raising just over $18,000.00.
Our community support was both overwhelming and heartfelt
as business owners from our community donated ever so
generously to both the silent auction table and a live auction.
And don’t forget about food! With “Spud Lowe” getting the
bbq spit up and going early Saturday morning with both pork
and beef cooking all day and with family members who had
prepared more salads, beans, and sweets than anyone could
possibly consume.
This year was also an opportunity for making new friends
with Stella Bartlett and her family and friends joining us from
Hamilton, and a new friendship with the Donaldson family from
here in Smiths Falls, who came early to share their story with us
as we were setting up, that they had lost a grandchild to SMA
9 years ago and every year since they have donated to Families
of SMA Canada.
There’s a saying that it takes a village to raise a child. We
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FUNDRAISING
“Do not go where the path may lead, go instead where there is no path and leave
a trail.” - Ralph Waldo Emerson
embrace and believe this to be true and that as we continue on
our journey with SMA our village grows and grows, from meeting
new friends and families that are directly affected by SMA to all
of the business owners who donated to help us raise money, to
the people who raised pledges and walked a very long 5km walk
and to the people who pledged them. To all of the people who
volunteered their valuable time and to the entertainers who sang
with such joy and kept us dancing throughout the evening, we
appreciate all that you do and you fill our hearts! If it takes a
village to raise a child, we are truly blessed to be a part of this
village.
Our total money donated to Families of SMA Canada for 2014,
$26,078 has far exceeded any of our expectations and we are
blown away by the overwhelming generosity of our community
and are so appreciative to how this event has been embraced by
the community.
Our success is only as a result of your commitment to curing
SMA! What an amazing day spent with amazing people, if you
were there, we thank you and we hope you had a blast! If you
couldn’t make it this year, we hope you can join in on the fun
next year!
Thank you Eddie, Jenna, Lori and all of your friends and family
for working hard every year to fund research.
Without these desperately needed dollars, we simply wouldn’t be able to use the word “HOPE”
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FUNDRAISING
Rebecca Run 2014 – Newmarket, Ontario
The Esso Rebecca Run continues to play an important role for the services offered by FSMAC. Funds
raised by this race impact, not only Canadian research projects, but by ripple effect, international
projects as well.
It’s backed by its major sponsor, Esso, has a matching donor of Imperial Oil and yearlong efforts of
its amazing director, Cory Freedman. Louise Smith, aunt to Rebecca Van Fraassen and founder of
the race continues to offer her support and expertise. The Van Fraassen family as well as the many
SMA families and friends that work to raise funds, annually make this race a success.
The 2014 race raised $112,000 which was used to fund a major research project and support families. Since its inception, the
Rebecca Run has raised $1.5 million dollars.
Thank you to everyone involved!
Your participation makes this event a major success!
Thank you to the
2014 Race Honoree Arran Deegan!
WELCOME NEW BABIES!
The Palmer Family
Welcomes a Baby Girl!
Congratulations to the Palmer Family of Calgary, Alberta.
After adopting their first three children, Evan, Landon and
Cameron, a little miracle happened with the birth of their
beautiful daughter, Piper.
Congratulations
Justin and Kira!
We are very happy for you all!
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2014 CONFERENCE
2014 International SMA Conference
– Washington, DC
The 2014 Annual SMA Conference was held in Washington, DC, at the
Gaylord National in National Harbor, Maryland from June 12-15.
We had such a wonderful time and felt so blessed to be given the chance by FSMAC!
From the Nataraj Family of Saskatoon, SK
2015 CONFERENCE
2015 International SMA Conference – Kansas City, MO
This year the International SMA Conference will be held in Kansas City, MO from June 18-21, 2015
The annual conference is the largest SMA conference in the world. Through the conference, we bring together researchers,
healthcare professionals, and families to network, learn, and collaborate. The family conference includes a variety of workshops,
keynote sessions with leading researchers, a family friendly research poster session, and more – plus fun events like our Dance
Party, Meet & Greet, Pajama Party & Movie Night, and teen and adult social activities.
For registration information please go to
http://events.curesma.org/site/PageServer?pagename=2015Conference
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CHAPTER NEWS & EVENTS
BC Chapter
Welcome to our newest FSMAC Chapter!
Our first meeting was held November 2014 with many exciting plans and ideas passed around. There was a lot of enthusiasm for
activities and fundraising plans for our BC families.
Thank you to our members who stepped forth to be our first Chapter executive!
President – Anne Belanger
Vice President – Joel Chung
Secretary – Micaela Evans
Treasurer – Rachel Zhang
Stay tuned for some exciting plans for BC families!
Quebec Chapter
Pique-nique au Lac-aux-Castors (Parc du Mont-Royal) - 10 août 2014
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CHAPTER NEWS & EVENTS
Alberta Chapter
Hello from the Alberta Chapter of Families with SMA.
The executive has been spending time working to more closely engage families affected by SMA. Currently we are working on reaching
out to adults with SMA through the adult neuro-muscular clinic. We will be providing literature that they will distribute on our behalf.
Along with this, we have put on some fantastic events.
On August 16, the 4th Annual Walk for Spinal Muscular Atrophy took place in Capilano Park. Not only is the walk an important
fundraiser, it is a great place for families to connect and share their experiences.
On October 18, southern families enjoyed a day spent at the Calgary Corn Maze. We also had a chapter Christmas party on November
29. It was a day of festivities that included a gingerbread house making contest and a visit from Santa himself.
We have not forgotten the folks in northern Alberta. Our hope is to hold events in Edmonton. Those who would like to become more
involved, please contact Laurie by phone or text at (780) 886-5508 or by email at [email protected].
We wish all of you a safe 2015!
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RESEARCH
SMA DRUG PIPELINE: DECEMBER 2014
SMA
Drug Pipeline: December 2014
Our approach to research is focused on continually expanding the pipeline of potential drugs and therapies for SMA,
Approach to research is focused on continually expanding the pipeline of potential drugs and therapies for SMA, cultivating new
cultivating new approaches and advancing promising ideas. The drug candidates shown below represent all four of our
approaches and advancing promising ideas. Every year, the pipeline gets broader and deeper. We’ve seen enormous growth over the
therapeutic approaches. Every year, the pipeline gets broader and deeper. We’ve seen enormous growth over the past
past decade, and we expect that growth to continue in the coming years as more projects approach FDA approval.
decade, and we expect that growth to continue in the coming years as more projects approach FDA approval.
IND
BASIC RESEARCH
SEED IDEAS
NDA
PRECLINICAL: DISCOVERY
IDENTIFICATION
OPTIMIZATION
FDA
APPROVAL
CLINICAL DEVELOPMENT
SAFETY &
MANUFACTURING
PHASE 1
PHASE 2
PHASE 3
Trophos/Olesoxime
ISIS/Biogen/ASO
Pfizer/Quinazoline
ORGANIZATION/DRUG NAME OR APPROACH
AveXis/NW/Gene Therapy
PTC/Roche/Small Molecule
Novartis/Small Molecule
CSC/Motor Neuron
[ON HOLD]
Paratek/Tetracycline
Genzyme/CNS Gene Therapy
Genethon/Gene Therapy
CALIBR/Small Molecule
RaNA Therapeutics/IncRNAs
Indiana U/Small Molecule
OSU/UM/Morpholino ASO
Cytokinetics/Tirasemtiv
Harvard/Small Molecule
GSK
Projects with Cure SMA funding involvement
IND = Investigational New Drug
NDA = New Drug Application
NUMBER OF COMPANIES
INVESTING IN SMA DRUG
PROGRAMS
HOW THE PIPELINE HAS GROWN
25
TOTAL PROGRAMS*
2014
12
2013
11
2012
9
2010
7
2005
1
2000
70
20
15
ACTIVE
PROGRAMS
10
PROGRAMS IN
CLINICAL TRIALS
5
0
2000
2005
2010
2012
2013
2014
*Includes failures
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RESEARCH
ISIS-SMNRX
A therapeutic approach known as
antisense oligonucleotides (ASO) drugs
are developed to treat genetic disorders
like SMA.
This approach led to the development of ISIS-SMNRx – an antisense drug
targeting the SMA backup gene, SMN2 – which is presently being tested
in late stage clinical trials – the first ever Phase III trial for a new drug
developed specifically to treat the underlying cause of SMA.
The success of ISIS-SMNRx to date illustrates the power of the strategic
approach to investing in research.
Canadian trial locations are: Vancouver, BC (BC Children’s Hospital),
Toronto, ON (Hospital for Sick Children), Montreal, QC (McGill University Health Center)
For more information please go to:
https://www.clinicaltrials.gov/ct2/show/study/NCT02193074?term=smn+isis&rank=1&show_locs=Y#locn
For more information on the trial, eligibility criteria and contact information.
RESEARCH
Statement from Cure SMA (USA)
The following statement was made by our sister organization, Cure SMA (USA). Since 2000, Families of SMA Canada and Cure SMA
(formerly Families of SMA) have shared a Scientific Advisory Board and worked closely together toward the common goal of finding a
treatment or cure for Spinal Muscular Atrophy. Together we WILL find a CURE!
What We’ve Achieved
Channeling investment to
a rare disease
Since 1984, we’ve led and
invested in the research that has
made today’s breakthroughs possible. We have invested $57
million in research grants to over 150 institutions worldwide
and have funded over half of all the ongoing drug programs
for SMA.
With Cure SMA’s help, government funding for SMA research
has nearly doubled in recent years, and we now have a dozen
companies involved in SMA research, including some of the
biggest pharmaceutical companies in the world. Because of
our model and successes, government and industry fund the
majority of SMA clinical trials.
We’re Attracting Attention from
Researchers and Scientists
When Cure SMA began work, we began by funding repurposed
drugs – drugs developed for other diseases that could show
some promise for SMA. Today, we’re seeing more and more
drugs developed specifically to target SMA, by researchers with
deep knowledge of the disease and its biology.
This expansion of novel drugs for SMA is a direct result of
Cure SMA’s investment and leadership. Our funding has
led to a much stronger understanding of the biology of the
disease, from mapping and cloning SMN1 (the genetic cause
of SMA) to discovering SMN2 (the SMA “backup gene”) to
developing animal models of the disease that allow us to
better understand pathology and test new drug candidates. As
a result, SMA becomes an attractive target for researchers and
pharmaceutical companies.
We re Getting Closer to an FDA-Approved Therapy
for People with SMA
Through strategic investments, we’ve grown the pipeline to
an unprecedented level of breadth and diversity. Fifteen years
ago, we had just two potential drugs in the beginning stages
of preclinical discovery. Five years ago, we had 12. Going into
2015, we have 17, including six in clinical trials – just steps
away from FDA approval.
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RESEARCH
Project Update for FSMA Canada (Cure SMA)
February 5, 2015
Grant: KT1415 (Feb 1, 2014 to Jan 31, 2016) $50,000 per year
Title: The Non-‐SMN Mediated Benefits of The HDAC Inhibitor Trichostatin A
PI: Rashmi Kothary
We have just completed the first year of funding from FSMA
Canada.
Objective: Our goal was to better understand how a small
molecule (TSA) that is a global gene regulator ameliorates the
disease symptoms and pathology in a mouse model of SMA.
Research Strategy: We have been studying what aspects of
muscle growth and maintenance are targeted by TSA, both at
the biological and molecular levels.
Significance of the Project: The proposed studies are directed
towards gaining a better understanding of the mechanism of
action behind the beneficial effects of TSA on our mouse model
of SMA. Our results have shown that an Smn-‐independent
mechanism is responsible for the benefits we have observed
after TSA administration. This work has the potential to refine
and advance therapeutic strategies for SMA and to generate
additional pathways to target this devastating, yet common,
genetic disease.
Summary of progress: A fully functional motor unit is
composed of the motor neuron, which is an exceptionally
large cell extending all the way from the spinal cord to the
muscle that it innervates. The connection between the neuron
and the muscle is called the neuromuscular junction. There
is evidence to support that this junction might be the first
site of pathological damage in SMA. This latter event might
be occurring as a result of a combination of signals from a
sick motor neuron and a sick muscle. Thus, motor neurons,
neuromuscular junctions, and skeletal muscle are all affected
upon SMN depletion in the context of SMA disease etiology,
and all contribute to disease pathogenesis.
There are tremendous efforts underway in developing and
testing therapeutics for SMA. These include approaches to
increase the level of the SMN protein through gene therapy
and through the use of small molecules. Equally of interest are
the efforts at identifying approaches to repair the biological
damage in SMA, without targeting SMN. We have been testing
whether certain global gene regulators can provide benefit
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in the SMA context. In particular, we are testing the broad
spectrum gene regulator, TSA, and its impact on attenuating
the pathology in a mouse model of SMA.
Over the past year, we have finalized experiments and
published a paper showing that TSA increased the median
lifespan of Smn2B/- mice (our mouse model of SMA) from twenty
days to eight weeks. As well, there was a significant
betterment in weight loss and improvement in motor behavior.
Furthermore, motor neurons in the spinal cord of Smn2B/-‐ mice
were protected from degeneration. Of interest, TSA did not
increase Smn protein levels in the hind limb muscle, heart,
or liver of Smn2B/-‐ mice, suggesting that the benefit is coming
from an effect on other protective mechanisms. As such, we
predict that identification of the pathways regulated by TSA
in the Smn2B/-‐ mice could lead to the development of novel
therapeutics for treating SMA.
In ongoing work in this proposal, we are continuing to explore
the biological benefits of TSA in Smn2B/-‐ mice, and in particular
focusing on how muscle growth and maintenance is improved
under this treatment regime. In the first year of this project,
we have investigated the impact of TSA on skeletal muscle
defects in Smn2B/-‐ mice. We demonstrated that TSA can
improve the fusion potential of Smn2B/-‐ primary myoblasts.
We also showed that TSA reduced the proportion of myofibers
with centrally located nuclei, which indicated that the muscle
was being protected from damage. Moreover, Smn2B/-‐ mice
treated with TSA had significantly healthier myofibers. TSA
administration resulted in a significant decrease in the
expression of embryonic and neonatal myosin heavy chain
proteins suggesting that these muscles were further along
the maturation process than those from untreated Smn2B/-‐
mice. Finally, we observed a significant increase in expression
of myogenic proteins following TSA administration. Other
aspects of the muscle defects are being explored, such as
impact of TSA on atrophy and the atrogenes, and on the
proteasomal pathway, both of which are impacted in SMA.
In the second part of this project, we are initiating experiments
SUPPORT
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HOPE
SMALL STEM CELLS TO RESULT
LONG MYOTUBES
RESEARCH
to identify gene regulatory pathways that are activated by TSA
in Smn2B/-‐ mice. It is our goal to understand what the gene
MUSCLE FORMS BY THE FUSION OF
activity differences are between muscles from sham treated
SMALL STEM CELLS2B/-TO RESULT IN
and TSA treated Smn ‐ mice. During year one of this project,
LONG MYOTUBES
we optimized theSMALL
procedures
for this protocol. In the second
STEM CELLS TO RESULT IN
year, we will perform the initial molecular analysis. The next
stage willMUSCLE
be to use software
to BY
compare
activity.
This
MUSCLE
FORMS
BY
THE FUSION
OF
FORMS
THEgene
FUSION
OF
work has SMALL
the potential
to
refine
and
advance
therapeutic
SMALL
STEMTO
CELLS
TO RESULT
IN
STEM
CELLS
RESULT
IN
strategies for SMA and to generateLONG
additional
pathways to
MYOTUBES
LONG MYOTUBES
target the disease.
MUSCLES IN SM
W
LONG MYOTUBES
SMALL STEM CELLS TO RESULT IN
LONG MYOTUBES
MUSCLE
FORMS
BY THE
MUSCLES IN
SMA DON’T
GROW
AS FUSION OF
MUSCLES IN SMA DON’T GROW AS
SMALL
STEM
CELLS
TO
RESULT IN
WELL
WELL
LONG MYOTUBES
TSAIMPROVES
TREATMENT IMPROVES
TSA TREATMENT
MUSCLE
CELL FUSION AND
MUSCLE
CELL
FUSION
MUSCLES
IN SMA
DON’TAND
GROW AS
MUSCLE GROWTH IN Smn2B/MUSCLE GROWTH
IN Smn2B/WELL
MICE
MICE
WELL
TSA TREATMENT IMPROVES
MUSCLE CELL FUSION AND
MUSCLE GROWTH IN Smn2B/MICE
WELL
MUSCLES
IN SMA DON’T GROW
WELL WELL
T
M
TSA TREATMENT IMPROVE
MUSCLE CELL FUSION AN
MU
MUSCLE GROWTH IN Smn2B
TSA TREATMENT IMPROVES
MICE
MUSCLE CELL FUSION AND
MUSCLE GROWTH IN Smn2B/MICE
TSA TREATMENT
MUSCLE CELL FU
MUSCLE GROWTH
MICE
Dr. Rashmi Kothary, Ph.D.
Dr. Kothary is Deputy Scientific Director at the Ottawa Hospital Research Institute (OHRI).
received a Ph.D.IMPROVES
in Biochemistry from the University of British Columbia and pursued
TSA He
TREATMENT
postdoctoral
in theAND
laboratories of Dr. Janet Rossant in Toronto, and Dr. Azim Surani
MUSCLE
CELLresearch
FUSION
in
Cambridge.
It
was
during
these formative years that Dr. Kothary developed his interest
MUSCLE GROWTH IN Smn2B/in the use of transgenic mice to model disease pathology. In 1998, Dr. Kothary joined the
MICE
OHRI as a Senior Scientist. He holds the University Health Research Chair in Neuromuscular
Disorders and is a Professor at the University of Ottawa. Dr. Kothary’s current research focuses
on studying the fundamental role of a cytoskeletal linker protein important for intracellular
trafficking, investigating extrinsic and intrinsic factors important for oligodendrocyte
mediated myelination and remyelination of the central nervous system, and understanding
Spinal Muscular Atrophy pathogenesis and identifying novel therapeutics for this devastating
children’s disease. He is on the scientific advisory boards for Muscular Dystrophy Association
(USA) and Cure SMA.
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RESEARCH
FSMAC Funded Canadian Researcher
Meet Dr. Jocelyn Côté
I am a biochemist and molecular
biologist by training with specific
expertise in the field of posttranscriptional regulation of
gene expression. Transcription
involves the synthesis of socalled messenger RNA from a
DNA template resulting in the
transfer of genetic information from the DNA molecule to the
messenger RNA. Post-transcriptional mechanisms include the
mechanism that allows the messenger RNA to be differentially
“edited or spliced”- depending on cell type or environmental
conditions- through a process called alternative splicing.
Post-transcriptional mechanisms also include the regulation
of the transport, localization, and effective life span of the
RNA messenger, as well as the specific modifications to the
proteins that participates in these processes.
a part of the SMN protein called the Tudor domain, as a
domain capable of ‘sensing’ a special protein modification
termed ‘arginine methylation’. Following this discovery, we
reasoned that these ‘methylated’ proteins might represent a
major subset of proteins that would stop functioning normally
in the absence of SMN in SMA patients, and that studying
these proteins might help us gain a better understanding of
what SMN does in spinal cord motor neurons and how loss
of its activity leads to SMA. Although it started primarily as
a scientific question, after I first attended the Annual FSMA
Research Conference back in 2002 and met with SMA kids
and their families, it became clear to me that I was going to
do my best to contribute my expertise towards increasing our
fundamental understanting of this disease in the hope that
it would help one day in the elaboration of novel therapeutic
strategies.
I obtained my PhD from the University of Sherbrooke in the
province of Quebec, Canada. I then pursued my training as
a Postdoctoral Fellow at Washington University in St.-Louis in
the US and at McGill University in Montreal, Qc, Canada.
My lab uses biochemical and cellular biology approaches,
working with various in vitro and in vivo models of SMA, in
order to gain a better understanding of the precise function
that SMN plays in spinal cord motor neuron, and how loss of
that function leads to the disease. For example, we are trying
to identify what are the other proteins and RNA molecules that
SMN interacts with and controls in motor neurons, with the
logic that this should give us some insights into what SMN is
actually doing in this cell type in particular. Then, we assess
if these SMN interacting partners could represent valid targets
that might be easier to manipulate than SMN itself to improve
the SMA phenotype.
I started my independent research group at the University of
Ottawa in 2004 and I am Associate Professor in the Department
of Cellular and Molecular Medicine since 2009 and hold a
Canada Research Chaire (Tier II) in RNA Metabolism since
2005.
How did you first become involved with SMA research?
Coming from a biochemical background, I initially started
working on SMA because I identified SMN, or more specifically
What is your current role in SMA research?
Dr. Côté’s Current Research
Arginine Methylation as a Regulator of SMN activities in Motor Neurons
Objective: We will study and obtain more information about the role of a novel protein, called PRMT8, which is present at the surface
of the cells that are most affected in SMA, the motor neurons in lower spinal cord.
Research Strategy: We will test the possibility that PRMT8 may be able to make the SMN that is still present in small amounts in
SMA patient cells, more active. Preliminary results obtained in our laboratory suggested to us that PRMT8 could regulate the binding
of specific proteins to a region of the SMN protein called the Tudor domain in motor neurons.
Significance of the Project: Stimulating the activity of the protein, PRMT8, could potentially have beneficial influence on the activity
of SMN that is still present inside SMA cells. Thus our work has the potential to lead to completely new strategies for SMA therapies
as well as a greater understanding of how SMN functions specifically in motor neurons.
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RESEARCH
Dr. Côté’s Current Research - continued
Progress to Date Made on this Project: Amongst the first things we wanted to confirm for this project to be viable was whether or
not this protein, PRMT8, was indeed present at the surface of spinal cord motor neurons, the cells that are most affected in SMA.
We are happy to say that we have been able to confirm that PRMT8 is present at the surface of moror neurons, and that at a similar
level in SMA spinal cord relative to unaffected animals. We have performed these experiments using various mouse and cell culture
models of SMA, and we would still like to confirm this in human motor neurons. We have also demonstrated, using motor neurons
grown in a petri dish, that PRMT8, similar to SMN, is playing an important role for the normal function of these cells and for their
survival. Confirming that it may indeed represent a good therapeutic target.
In a second Research Objective we wanted to investigate in more details ‘how’ PRMT8 might be influencing SMN function. One
simple way to look at this is to picture SMN as part of a ‘lock-and-key’ mechanism, where SMN constitutes the ‘lock’ and the ‘key’
would be proteins that are decorated with a special modification or mark called a ‘methyl group’. This is where these enzymes called
PRMTs come in, as they are the ones that will add this special mark on proteins, in turn making them a good ‘fit’ for binding to
SMN. We have now identified and characterized at the molecular and biochemical level a number of proteins that can be modified
by PRMT8 to become better interacting partners for SMN.
In a 3rd and final objective, we have been testing more directly, again using either motor neurons grown in petri dishes or mouse
models of SMA, whether an increase in levels and/or activity of PRMT8 in motor neurons could indeed lead to some molecular and,
more importantly, functional benefits. These last set of experiments are currently ongoing and should be completed by the end of
next summer.
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UPCOMING FUNDRAISING EVENTS
CASINO
NIGHT
The Caligiuri Family
is hosting a
Casino Night
Fundraiser!
The Caligiuri family are graciously holding this fundraiser to help Canadian families receive support through Families of
SMA Canada.Specifically the family would like to see the funds used to assist families with equipment.
“We are proud to have this opportunity to be able to help families in need of f
inancial support by funding equipment for those affected with SMA”.
Thank you Caligiuri family!
Friday February 27, 2015 • 7:00 pm
The Royalton • 8201 Weston Road, Woodbridge, Ontario L4L 1A6
Featuring…
Casino Entertainment • Games & Giveaways • Draw for a Trip for 2 to Las Vegas
Deluxe Bar • Food Stations
To purchase tickets, please go to www.fsmacstrong.com
Please join us for an amazing evening!
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Never Give Up
CURE SMA
at
Little Rock Farm
SATURDAY MAY 9TH, 2015
A
fundraising event to bring awareness and raise funds
to support research for a treatment/cure of Spinal Muscular Atrophy.
WALK
A
THON
Silent
Auction
Country
Dinner
Live Entertainment
featuring
Wade Foster and the
Bowes Brothers
Raffles Prizes
Little Rock Farm
467 & 346 Buttermilk Hill Road, Perth—1:00 to 10:00, proceeds to families
affected by Spinal Muscular Atrophy and Families of SMA Canada
“Do not go where the path may lead, go instead where there is no path and leave a trail.”
Ralf Waldo Emerson
For more information contact Jenna Stewart @ 613-285-5152
Or like our Facebook page @ Cure SMA at Little Rock Farm
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Saturday, July 4, 2015
9:00 am Start
Fairy Lake, Newmarket, Ontario
Join us on Saturday, July 4th at Fairy Lake in Newmarket for the
14th Annual Rebecca Run for SMA sponsored by ESSO
Bring the whole family as 600+ participants cross the finish line. Witness the energy and
enthusiasm that surrounds this amazing event, it will surely be a memorable day!
There is something for everyone at the Rebecca Run for SMA including great Technical Run shirts
for all participants, an amazing Post-Run BBQ and lots of fun for the whole family.
Run Options include a 5k Run/Walk, 3k Run/Walk/Roll and a Kids’ Fun Run.
New for 2015! We will begin the morning with the 5k at 9:00am,
the Kids Run at 10:00am and our 3k Walk at 10:15am.
ENTER NOW at http://www.rebeccarun.com/
Our 2015 Honouree Asha Buliung
Through your support and efforts we raised over $2.5 million for
Families of Spinal Muscular Atrophy Canada to date.
Together, we will find a cure for SMA.
We look forward to seeing you at the start line on July 4, 2015!
Families of SMA Canada directs 95% of donations to research to help find a cure for SMA.
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CELEBRATING OUR SMA FAMILIES - GRADS!
Bernie Ross
Where did you graduate from and what are you doing now?
I graduated from Woodland Christian High School in Breslau, Ontario, and I’m now enrolled at the
University of Guelph, B.Sc. Coop program, studying Nanoscience.
What are your plans for the future?
I have some very ordinary goals – I want to be independent and support myself, and have the health and
mobility to work and socialize with friends. I have some special goals too – I want to achieve academic
excellence, and make a significant contribution in some scientific field.
If you were to hit replay on a time on your life, where would you go to and why
When I was a kid, I enjoyed horseback riding and camp and wheelchair hockey but I wouldn’t really want
to go back to being a kid again. Being in university is hard but it’s better than high school.
What advice would you give to a young person with SMA that is struggling with their physical limitations?
Having SMA isn’t like being in an accident and losing mobility. I think most kids with SMA grow into dealing with life in their own way.
What are a couple of your favorite things to do?
I like playing video games and watching my favourite shows, usually fantasy and science fiction.
What advice do you have for parents?
Listen to your kids when they complain about things hurting. Doing physiotherapy is a pain. Invest in the latest technology to make
life easier. Get a pet.
What’s the biggest change between high school and university?
In high school, I had the same aide all the time. At UG I have to arrange for different peer guides to walk with me between classes,
and PSWs to meet me for other things between classes. I feel more like an adult. I still live at home so I don’t have to deal with
residence life.
Congratulations
Bernie, we wish you the
best of success in
University and beyond!
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Shailynn Taylor
Where did you graduate from and where are you now?
I graduated from A.E. Peacock Collegiate in Moose Jaw
Saskatchewan and am currently living in Burnaby BC attending
Simon Fraser University.
What are your future plans?
I plan to graduate with my Bachelor of Business Administration
and then either begin working in Human Resources or carry on
to Law School. I hope to buy a nice house, and find a job I am
passionate about and settle down with someone.
Where do you see yourself in five years and in 10 years?
In five years I see myself having decided which career dream
to follow and taking the next step along that path. In ten years
I hope to be done school and settled into a job that I love and
am successful in.
What achievement do you feel very proud about?
I am most proud of the work I’ve been able to do with families
that are new to the SMA world as well as the money and
awareness I have been a part of raising in the community I
grew up in. It is so amazing to be able to act as a role model to
the younger kids, something I didn’t have growing up. I am also proud of
managing to move to a new province and live as independent of a life as
possible. I’ve learned I am capable of far more than I believed I was since
leaving home. It truly is possible for us to grow up, move out and learn a
new form of independence in some way or another.
If you could give advice about inclusion to parents what would you
suggest?
My advice is to treat your kid like everyone else. The more they believe they
are no different the more likely they are to accomplish the things those
around them do.
Name 3 things from your life that made you into the person you are
today? Three things that have made me into the person I am today are my family,
my bestfriend and my highschool physical education teacher (crazy I
know). I grew up in the most loving, strong and faith empowered family that
truly shaped me into who I am today. I would have accomplished nothing
without their love and support. They never allowed me to dwell on my
limitations, instead focusing on what I could do and all the amazing
opportunities SMA brought to my life. My friend Justine taught me that
even when SMA makes something feel impossible, I have everything
inside of me to find a way to accomplish it. Whether it was taking care
of me on my first trip away from my mom when I was convinced nobody
else would be able to help me and I’d end up living at home for ever or
managing to build me a bed to sleep on the beach one summer night
because it was something I’d always wanted to do, she showed me I could
have anything in life I wanted. A supportive friend who is there for you
on the days when SMA feels like an ocean that is sucking you under but
also there to celebrate every little thing you achieve is really what got me
through my teenage years. I learned a friend can know every ugly detail
of the life SMA brings and yet love you like you’re no different. Finally
my Physical Education teacher taught me although SMA may make me
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“weak” I can fight to keep my
strength. Entering my first day
of Phys Ed. I assumed it would
be a write off as every other
Phys Ed. class had been for
me, but I was very mistaken.
She created an amazing
workout plan, ordered adapted
machines for me and made
Phys Ed. the most beneficial
and life changing class I’d ever had. She taught me how to work out with
the strength I had and contrary to what my doctors told me, I actually
became stronger and healthier. That was the year I learned that I could
fight SMA and have some control over what it took from me. SMA became
a lot less scary when I realized I still had some power. I will never forget
the improvement Renee Verge made on my strength, health, and view of
this crazy disease.
I’d like to end this with a quote from a speech that my bestfriend Justine
gave at an SMA fundraising gala last year, as it is something that I use
as a reminder of how to live every day. Through the experiences of our
friendship she said “I discovered if there is one thing that makes this
disease a little easier to bear, it is to meet the eyes of the demons it
brings and let them know that they do not control you.” If you live with
SMA, look those demons in the eyes and go out and achieve everything
you’ve ever dreamed of, it is possible. If you’re a parent, I promise this
life is beautiful and so worth every obstacle you will have to help your
child overcome. Your strength and determination to give us the best life
possible is so inspiring and something your child will be eternally grateful
for when they reach an age where they realize everything you’ve done. Lots of love, Shailynn Taylor
Thank you Shailynn!
All the best to you in your endeavours!
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Alex Carey
Where did you graduate from and where are you now?
I graduated in 2011 from Mark R Isfeld in Comox BC. I’m
currently living in New Westminster, BC.
What has life’s lessons taught you?
Patience and Empathy will take you a long way.
Finish this sentence: as a kid I wish I knew that…
Being the loudest doesn›t make you correct.
When you were in school what equipment or
software did you feel helped you succeed. (I didn’t really use very much adaptive equipment
so cheeky answer) Healthy amount of OCD.
Where do you see yourself in 10 years?
In a creative endeavor while making enough
money to be self sufficient. Holli Vander Wyk
Where are you from and where did you graduate?
I am from Chilliwack, BC. I graduated from Sardis Secondary School.
What are your plans now?
I am currently attending University of British Columbia – Okanogan in Kelowna. I am in
the Bachelor of Arts program and I am planning to Major in psychology. Eventually I am
planning to obtain a degree and be a youth counsellor. My dream job is to counsel children
in the school district.
Name three of the greatest lessons you have learned in life.
Throughout my life I have learned many different lessons. However, my top three would
be…
1.
“Everything happens for a reason, we may not know what that reason is but it’s
for the best.” This really helped me throughout the years, if certain situations did
not happen in my life, I found it may have opened other doors that I am grateful that
opened. For some of those doors, I don’t know what my life would be like without them.
2.
“Difficulties in your life don’t come to destroy you, but to help you realize your
hidden potential.” If I did not have SMA and had not been born into the life and mind
state that i have; I would not be where I am now. My life experiences have influenced
me into the direction that I want to go for the rest of my life.
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3.
“You can do anything that anyone else can do, but you just have to do it differently.”
My parents have told me this statement my entire life, it has gotten me so far. I have
accomplished anything I have ever wanted, yes it wasn’t the exact same but I did it. I
grew up in the environment that I was like everyone else, and I can do everything. I truly
believe that all of these lessons made me into the better person I am today and I have
the people I am surrounded with to thank for that.
If you could change something about your past, what would you change. I personally would not change anything that has happened in my past. There have been ups
and downs in my life. However, I feel that it has made me into the person I am today and has
guided me into the direction I want to go in my life.
What advice would you give to somebody going through school and having “troubles”? My advice would be that friends come and friends go, but the true ones stay. This has
happened many times in my life, more than it should have. I know it’s hard to go through,
but those people weren’t meant to be in your life and you were not meant to be in theirs. It
was really hard for me to realize this fact because I have had best friends who walked out of
my life. Trust me it will get better, I promise. A way I met people is; I joined clubs and groups
in my school. I found it was a great way to meet people, and found they mostly were people
into the same things as me.
What advice would you give newly diagnosed parents of an SMA child? Advice I would give to newly diagnosed parents would be that anything is possible. Your
child can still do anything else that any other child can do; it will just be done in a different
manner. It would be incredibly limiting to raise an SMA child with pity or spoil them, both
ruin their ability to do everything they can do in life. Treat them as you would any child, let
them reach their max, dreams, and goals. The diagnoses is not the end, just a bump in the
road.
Thank you Holli, we wish you
all the best for a successful
road ahead!
Share Your Stories and Experiences!
Would you like to submit photos or stories to the next newsletter? Do you have a great idea? So you have a trick of the trade that you
know others would benefit from? Would you like to introduce your family? Do you have poems to share, artwork? We’d love to share
them with others!
Please send to us via email [email protected]
OR snail-mail to Families of SMA Canada Society 103 – 7134 Vedder Road, Chilliwack, BC Canada V2R 4G4
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PARENT TO PARENT
Never Be Afraid!
Never Be Afraid
of trying a new idea; pushing the expected out of the way and leaping into the unknown.
Two magic words; I believe! I believe in myself, I believe in others and I believe we can get through this and succeed.
Never Be Afraid
to be aggressive. Aggression – not violence – is what moves us forward and gets things
done. It’s what we show when protecting our children or pushing for services we need rather than hold back until it is too late.
Never Be Afraid
of what will be; hope for the best and plan for the worst, or reality. We truly need 3 eyes; one
to see the present, one to see the best possible future and one to see the worst future imaginable.
Only with these 3 perspectives in sight can I truly provide the best care for my kids.
Jeffrey Parry
Father of Jessika Parry 4 years old - SMA Type 1
Peer Support
Are you needing to talk to someone who really understands what
it’s like to have your type of SMA or what it’s like to parent a child
just like yours or sadly have experienced the same loss? Someone
that feels the same joy in the smallest accomplishments and the
same stresses and fears?
There are individuals, as well as parents and grandparents that
have put their name forward to offer their support. People that have
already had connections arranged are very happy they did! If you
are interested in making this connection, please contact the head
office at [email protected] with the subject peer support to get
connected with a suitable match.
Are you someone that feels you would have something to offer in the
way of support to someone else? Please email to let us know, and
be put on the list of contacts.
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I CAN!
I Can!
Our SMA family and friends have many ABILITIES!
Here are some wonderful examples of what they can do!
I CAN MAKE MUSIC! Khloë’s daddy used a twist-tie to create a
handle to hold so that she can make music on her xylophone!
Khloë had SMA type 1. This picture was taken when she
was 11 months old.
Georgia Nataraj
“I CAN HAVE DANCE PARTIES with
glow sticks and spin around in
circles in my kidwalk! This is one of
my very favorite things to do! This
particular dance party was special
for me and my family, as I was
just discharged from hospital after
having a bout of pneumonia. As you
can see, I’m feeling better now!”
I CAN DO YOGA Georgia doing yoga... she “CAN” now
do yoga because she went to the workshop at the
conference! We do the video they gave us there quite
often, and she loves it!
Charlotte Nataraj
“I CAN HAVE HOPE (it’s my middle name)! Because I was diagnosed in-utero, my family had no idea what my
abilities would be and even what type of SMA I would have. I am happy to announce that I’m crawling everywhere
at racer-like speeds and walking with assistance! Only God knows how long these abilities will last, but we are
thankful that they are here for this season of my life! We are hopeful for a bright future!”
Nicolas
I CAN “WALK” THANKS TO THE UPSEE. We first heard about the Upsee earlier this year
on Facebook. I mentioned it to our physiotherapist and she immediately said “I need
to get one”. They were in huge demand and it took about 2-3 months for her to get it.
It is a little bit cumbersome to get on and get Nicolas attached but once everything is
set up it’s quite comfortable. He loves it! He gets the sensation of walking on land,
he can stand side by side with his sister (and I actually discovered for the first time
how tall he is compared to me…very emotional) and he was even able to have the
sensation of kicking a soccer ball. It’s a truly brilliant invention. Petra (Mom)
32
SUPPORT
RESEARCH
HOPE
I CAN!
Calum Monkley
Calum Monkley’s sister, Abby, sent this photo of Calum with the caption… “I CAN be awesome!!!”
I CAN GET BETTER QUICKER
with the love and snuggles
from my big sister Abby.
I CAN SWING with my sister
for the first time, on my
home made swing made by
my Grandpa.
I CAN be the best big sister
ever! - Abby Monkley
I CAN “COACH” JACKIE. She runs for me and spreads the word about SMARD. She sends me
cool t-shirts and medals from the races she has ran all the way from New York City. She is
even going to run her first marathon for me in November. Team Calum, is a strong and fast
team. There are lots of runners wanting to run for our children, check out I RUN FOR MICHAEL
on Facebook if you want to find your child a buddy to run for them.
Finley Malmberg
I CAN INSPIRE. Finley was told she’d only live a few minutes after being taken off life support
the first weekend in October, after she had been hospitalized with a collapsed lung. But she
fought. She fought so hard and she lived! She’s now back home with her family inspiring
others to live in the moment and fight for what they have. As her parents we were astonished
to see her pull through. We’re now enjoying every extra minute of borrowed time with our sweet
Finley, who has become our little hero.
Evan Palmer
I CAN SWIM and PLAY SOCCER!
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RESEARCH
HOPE
33
I CAN!
Jessika Parry
I CAN MOVE MY ARMS UP AND
DANCE FOR THE FIRST TIME
IN 3 YEARS. All because of my
WREX, the Wilmington Robotic
Exoskeleton. The cost was
$4,000 and the funds came
from donations made by many
amazing people. Thank you!
I CAN HAVE HOPE, With funding from
FSMAC, I can hope for a treatment and a
cure for SMA within my lifetime.
We are almost there!
Jeffrey Parry, father of Jessika Parry
- 4 years old SMA Type 1
I CAN BE A PART OF A COMMUNITY OF AMAZING, STRONG AND BRAVE PEOPLE. Parents, grandparents, caregivers and kids and adults who are
affected by SMA all brought together by FSMAC. What a brilliant community of caring, sharing, supportive, innovative people who are working
so hard every minute of every day to survive and thrive until a cure is found. Thank you FSMA Canada!
Eva de Blois, mother of Jessika Parry - 4 years old SMA Type 1
Benjamin Bourne Flosman
“I CAN TACKLE McMaster’s ‘accessible’ alpine tower”!
“I CAN PLAY FLAG FOOTBALL on a smoooooth riding
AstroTurf field with my friends and family!”
34
SUPPORT
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HOPE
I CAN!
Holli Vander Wyk
I CAN COOK in my own little kitchen!
Miles Ambridge
I CAN PLAY BASEBALL!
Owen McHardy
I CAN WALK with my Mom
using the Upsee!
Maliyah Chung
I CAN TAKE BALLET CLASSES
with my friends!
Evan Mosco
I CAN MAKE LASAGNA with Grandma!
I CAN GO ON SCHOOL FIELD TRIPS with my friends!
SUPPORT
RESEARCH
HOPE
35
SHARING
Helen
Chihuly Garden & Glass
Seattle, WA
Helen and her family enjoying a beautiful day in the park.
t
m, Anne ou
Miles & mo
t!
a
o
ilb
on their sa
May Day 201
4
Miles - Ba
tter Up!
The Nataraj Family
Charlotte
36
an!
a AquaM
Miles ak
Georgia’s 3rd Birthday!
The Nata
raj Girls
The Nataraj Family
SUPPORT
RESEARCH
HOPE
SHARING
aptain Jack
Evan and C
Evan Palmer and his gang!
Evan catc
hing some
waves
with dad,
Justin
Owen Mc
Ha
out for a rdy
drive!
The Schwuchow Family
Nicolas and Isabel
Nicolas and Isabel Schwuchow
Sharin’
!
the Love
at
msleven
Kelel Bra s old.
2 month
What are
YOU look
in’ at?!
Constance and Madeleine with their
cousins Philippe and Frédéric
SUPPORT
RESEARCH
HOPE
37
SHARING
Maliyah Chung creating her next masterpiece!
yah
a and Mali
Queen Els
Aaron Qin
Khloe full of sm
iles!
up &
undled
Aaron b to go!
ready
Ben Bourne Flosman
ready for another adventure!
Khloe
Jack Janke and his lovely family
38
dad, Tim
Evan and
st!
first harve
with their
Evan Mo
sco
chillin’ a
t Neuro
Clinic
SUPPORT
RESEARCH
HOPE
RESOURCES and SUPPORT
Me ‘N My Mitrofanoff
by Holli Vander Wyk
Having SMA, there
is a certain amount of
limited independence.
I learned of a new,
exciting procedure from
a friend of mine from
Washington state who
also has type 2 SMA and
is a few years older than
me. She came to visit us
when we were camping
a few years ago, and
said, “Hey Holli, let me
show you my new party trick.” She then took an empty pop can,
disinfected her hands and pulled a catheter out from a little
bag hanging on the side of her wheelchair. She then put one
end of the catheter in her belly button and the other end in the
pop can. “I’m peeing!” she said, “Cool heh?” Yes it was, and
that was the day I decided that I was going to have the same
surgery.
In July 2014, I received the surgery called Mitrofanoff
(pronounced me-TROFF-an-off). Independence was going to be
mine! I was going to pee in a can! Anytime, anywhere, with
or without an audience! I was going to go to the mall with my
friends, without my mother coming to take me to the bathroom
(soooo not cool), I was going to drink a beer with my friends
in university and not worry about needing assistance to deal
with it later, I was going to fly in a plane and drink
as much as I wanted to, I was going to do this one
thing for myself that I have never been able to. I
don’t think you can ever understand the power of
independence until you don’t have it.
the belly button (to allow the appendix to heal around it, think
of it like getting your ears pierced and leaving the earring in
your ear so the hole heals open around it). You would also have
a catheter coming out your urethra that would be attached
to a bag that you would need it to constantly drain through
the healing process. Once the healing process is over, you go
back to the hospital, all tubes are removed and you receive
training on how to use it. From there, you are set, you are an
independent pee-er!
The risks of this procedure are: increased chances of having
a bladder infection and I’ve had some, but they are easy to
treat, especially when caught early. I also have had a bit of
leakage from my belly button, but we are also able to work
around that, by not allowing the bladder to get too full and I
am told that will improve with time.
For me, this was the best decision I have ever made for
myself. It gave me an independence that I have never had
before. It is indescribable how happy and proud I am for
making this decision for myself. I have not regretted one day
of it. The only change I would make is that I would have had it
done a lot sooner.
If you are considering the procedure and have questions
for someone that’s been through it, I am happy to share
my experience with you. You can contact me through
[email protected]. I also have a few friends that have had
the procedure and their experience is the same, happy to have
had it done and would also be happy to help someone else
thinking about having it too.
The procedure removes the appendix and uses it
like a tube to connect the top of the bladder and to
the inside of the belly button. This procedure allows
a person to catheter through the belly button. The
catheter is inserted through the belly button (which
still looks like any ‘ol belly button), feeds down
the appendix and into the bladder. The urine goes
through the catheter because of pressure in the
bladder. No pain and no discomfort.
The Mitrofanoff surgery takes about three hours
to complete and six weeks to heal after the surgery.
I personally was in the hospital for one week. When
you are sent home, there is a catheter coming from
SUPPORT
RESEARCH
HOPE
39
FSMA 2014 Conference Workshop Aquatic Physical Therapy
The pool provides an incredible outlet to engage actively, passively and
creatively for kids and adults with all movement abilities. Some activities may
need to be modified for your specific needs and abilities. For activities with
repetition, 3 sets of 10 are generally recommended as a target to work toward.
For those activities that are more open ended maintain for 2-5 minutes or as
tolerated or 2-4 pool widths. You may need to start significantly shorter/slower
than this in the beginning.
THINGS TO ALWAYS REMEMBER IN THE WATER
• Water safety first (maintaining it and teaching it)
• Touch what you want to work – if you touch it they will use it
• You can’t move a weighted part – if you want it to move you have to take the weight off it
• All activities should be pain free, without muscle fatigue or overall exhaustion
BEGINNING ACTIVITIES
Pool Dancing
• Sitting on parent leg
• Hands as low on trunk as possible for good trunk and head control – pelvis is goal
• Move forward/backward/sideways
Sitting on Parent Leg/Arm Exercises
• Parent hands as low as possible
• Hold barbells/noodle to hit wall (shoulder action only if spinal fusion)
• Hold barbells/noodle to hit small to medium
Ping Pong
• Blow bright colored ping pong ball back and forth with another person or across pool
• Can blow it with a straw
• Look for “kissing lips” with blowing
Bubble blowing
• Take big breath
• Blow bubbles in the water – counting how long you can blow
• Work on increasing time by increasing air intake and controlling air outflow
NOODLE GAMES
Noodle/horse riding
• Work on sitting independently with minimal input to horse
• Hands on pelvis or abdomen if required for stability
• Goal is to independently sit and run on noodle
• This is possible with and without fusion
Noodle ball
• Hit ball back and forth between kids/parent
• Ball on water
• Start with small ball and move to beach ball as able
ADVANCED ACTIVITIES
SITTING
Arm Activities
• Flying with hands at side (fingers open and closed)
40
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• Hands down in front
• Elbows in at side, turning shoulders in and out
• All of these can be made more challenging with floats at the wrist
NOODLE
Sunshine ball pushing
• Push weighted ball back between child/parent
• Start with pushing with one hand at a time so other can hold noodle
• Move to push with 2 hands as able
Sunshine sitting on the noodle
• Turn noodle sideways (like a swing)
• Start by having kids hold onto noodle and get balance
• Kicking across pool – full knee extension (straight legs) for active hamstring stretch
• Kick with small foam/ball between knees for improved quadriceps strength
Sunshine or horse sit across pool with arms
• Move backwards by starting with arms apart and pushing them quickly together
• Move forward by starting with arms in front and pushing to the side
• Inhale with arms apart/exhale with arms together
• Work to get arms as far apart as possible with each movement for pulmonary stretch
WALL ACTIVITIES
Holding wall
• Practicing safety
• Wall push-ups (work to 3x10)
• Increase push up difficulty with increasing speed if needed
Wall walking
• Walk to left and right with both hands on wall and child facing wall
• Important to go in both directions
Spinning spider walk
• Start with both hands on wall
• Parent support at pelvis/stomach as needed
• Hold on with right hand and reach behind with left hand to get wall
• Reach over with right hand to get wall
• Work on this going over right side and over left
• Exhale when hands come to the wall/inhale when hands reach back behind for the wall
Push up to pool side
• Both hands on pool deck
• Push up with extended arms
• Rotate to sit down
• Practice going to right and left (kids will probably have a preferred side)
WALKING ACTIVITIES
*Use weights/floats as needed to keep feet down *Floats make it more challenging to get feet down – increase hip extensor/quadriceps activity
*Weights can improve stability. Be mindful of keeping the weight minimal for better movement. *Use noodle/chest/head float as needed for
upright *Nose past toes *Marching – touching opposite knee or ankle *Boxing walking (making waves!)
Article courtesy of
Wave Therapies, PLLC
PO Box 3432, Redmond WA 98073
Jennifer Martyn, PT
[email protected]
SUPPORT
RESEARCH
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41
Helpful Ideas for Personal Care
by Laurie Young
For us girls – as our SMA progresses its a good idea to get make-up brushes with long handles. This way we can apply eye make-up without
having to lift our arms as high.
A one step make-up remover cloth is an energy saver. These can be found at all drugstores and eliminate the need to use make up
remover and then having to wash your face again with water and a washcloth. For those of us with poor hand control and end up wearing most of our meal - a paper clip is a handy way to anchor a napkin to
your top. (I never do this in public ;))
If it is too much to wash your hair with the regular shampoo and water, there are now excellent dry
shampoos on the market. Simply brush through oily roots and you’re set.
Now we’re getting personal – instead of dealing with pads or tampons
during a menstrual period, I find it easier to wear an incontinence brief.
It’s one step and it prevents leaks on clothing.
Donation of $3,000 to Purchase
Samsung Galaxy Mini Tablets
We have had a very special donation of $3,000 to purchase twenty
Samsung Galaxy Mini Tablets to distribute to families that can benefit
from them.
Please apply for consideration
and the draw by contacting Susi at
[email protected]
We would like these tablets to be distributed
to families that would not otherwise be able
to purchase one, and for the person affected
by SMA to be able to communicate or use
it for entertainment purposes. All ages are
welcome to enter their name.
Thank you to SGB Golf for this awesome donation!
Mattresses for FSMA Canada!
Families of SMA Canada received a generous donation of $3,000 from the SGB Association of Quebec.
A golf tournament was held to buy assistive equipment. The SGB Association’s mission is to raise
much needed funds to purchase specialized medical equipment to support the future leaders, the
KIDS! They have generously donated the funds to purchase 25 Spenco Mattresses for the Families of
SMA Canada loans cupboard.
These 78" x 36" mattresses are excellent for pressure relief. They are an overlay, to place over top of
the existing mattress, resulting in less pain and being able to sleep longer in one position. They are
ideally suited to someone heavier than 50lbs. If you would like more information about the mattresses,
please contact Susi Vander Wyk at [email protected]
Thank you…
to all of the members at SGB Association for your compassion, kindness
and efforts to make a difference!!
Also, thank you Aniello Cavallaro for arranging this donation from the generous people at SGB
Association!
42
SUPPORT
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HOPE
Those Little Extras Can Add Up!
Families of SMA Canada is now offering a $100 Gift Card to families who are
hospitalized to help cover the many costs for things such as parking, meals, etc.
If the person affected by SMA in your family is hospitalized, please let us know so we
can send a gift card to you. If you don’t tell us, we won’t know! Please contact Susi at
[email protected] or call toll free 1-855-824-1277.
SUPPORT ... pages
Sending you and your family
many wishes for a healthy year!
Support Collection Series Booklets
available through the head office
Please contact the head office if you would like to receive one or
Support
Collection
Series
informative booklets.
more of these
The entire series is available in French as well as English.
Booklets are available through the head office. Please contact the head office if you would like to receive one or
more
s
e
g
a
p
.
..
of these informative booklets. The entire series is available in French as well as English.
S U P P O RT
ooklets
B
s
ie
r
e
S
ollection
C
t
r
office
o
d
p
p
a
u
e
h
S
e
h
rough t
h
t
le
b
a
il
a
av
r
e one o
e to receiv
lik
ld
u
o
w
you
d office if
ct the hea
ts.
ta
le
n
k
o
glish.
o
c
o
e
b
s
Plea
well as En
rmative
s
a
fo
in
h
c
e
n
s
e
re
F
more of th ries is available in
se
The entire
20 | Spring 2013
SUPPORT
Families of SMA Canada Society | 103 – 7134 Vedder Rd. | Chilliwack, BC | V2R 4G4 | 1-855-824-1277
RESEARCH
HOPE
43
SHOW YOUR SUPPORT
Lanyard
$2.50 each ($2.00 each if purchasing 5 or more)
• 18” long
• ¾" wide flat polyester
Recycled Non Woven Shopper Bag
$3.50 each ($3.00 each if order 5 or more)
• Super strong non woven material
• Reusable and recyclable
• Grocery bag size 13" x 15" with an 8" gusset
Travel Mug
$12.00 each
• 16 oz.
• Insulated, with stainless steel
interior and exterior
• Press on lock top lid
• Packaged in a white box, makes an excellent gift
Pens
$5.00 each
• Medium – point blue ink
• Refillable
• Comfortable rubber grip
• Metal plunger
• Comes with a sleeve
Mouse Pads / Coaster
$5.00 each
• Neoprene with non stick rubber backing
• 8" x 6"
Beach Towel
$29.00 each
• High quality velour
• 30" x 60"
• Bright and beautiful!
Water Bottle
$9.00 each
• Choose Red or Black trim
• 28 oz.
• BPA free, chemical resistant
• Super lightweight and durable
• Easy – flip sport spout with detachable sipping straw
• Wide mouth opening for ice cubes
Duffel Bag
$60.00 each
• Nylon and Polyester
• Front zippered pocket, padded shoulder strap, all metal hardware
• Ventilated shoe compartment
• Grab handle, fabric wrapped handle
• Large capacity for gym or light travel
• 21" x 14" x 12"
FSMAC power bracelets
$2.00 each
• Purple with orange or pink with orange
Families of SMA Canada T-Shirts
$15.00 each
• Sizes from Youth XS to Adult XL
Golf Tees
44
SUPPORT
RESEARCH
HOPE
Contact Us!
Are you a newly diagnosed family?
Register with us so we can send you an info and support package.
Someone you love in the Hospital? Contact us so we can send our Well Wishes.
We are here for you!
EMAIL [email protected]
Families of SMA Canada Society 103 – 7134 Vedder Road, Chilliwack, BC Canada V2R 4G4
Donate!
Would you like to make a donation? Do you want to make a difference and help research in Canada?
Here is how you can help…
BY PHONE 1-855-824-1277 (via Credit Card)
ONLINE Go To www.curesma.ca and Click on “Donate”
MAIL FSMA Canada
103-7134 Vedder Road, Chilliwack, BC Canada V2R 4G4
(Please make cheques payable to Families of SMA Canada)
Events!
Do you have an event coming up? Did you just have an experience that you want to share?
We can help you let others know! Give us the details!
Share Your Stories and Experiences!
Would you like to submit photos or stories to the next newsletter? Do you have a great idea? So you have a trick of the
trade that you know others would benefit from? Would you like to introduce your family? Do you have poems to share,
artwork? We’d love to share them with others!
Please send to us via email [email protected]
OR snail-mail to Families of SMA Canada Society 103 – 7134 Vedder Road, Chilliwack, BC Canada V2R 4G4
FAMILIES OF SPINAL MUSCULAR ATROPHY CANADA SOCIETY
www.curesma.ca
103 – 7134 Vedder Road
Chilliwack, BC
Canada V2R 4G4
Families of SMA Canada Society
Toll Free 1-855-824-1277

Spring 2015 - Families of SMA Canada

Transcription

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