Winter 2011 - The Canadian MPS Society

Transcription

WINTER 2011
ISSUE HIGHLIGHTS
Medical Advisory Board Profile Dr. Aneal Khan
Celebrate the Rare on
International Rare Disease Day!
Travel Bursaries available for
our 2012 National Family
Conference and the 2012
International MPS Symposium
Once Upon a Cure: a whimsical,
star-studded fundraiser takes
place in Vancouver for MPS II
An Evening in Italy raises funds
for MPS IV B - “That’s Amore!”
Team MPS hits the streets of
Toronto in the Scotiabank
Toronto Waterfront Marathon
with a goal of No “MORE” MPS!
Brooke Hodson logs over 560
kms for kids with MPS!
Jessica Gentle wins our 2011
Holiday Art Contest - see her
creation on the back cover and
Happy Holidays to all!
www.mpssociety.ca
SUPPORT FOR FAMILIES. RESEARCH FOR A CURE.
IN THIS ISSUE
Our Vision:
Director Reports
4
MAB Profile
8
Birthday Greetings
9
Donations
10
In the News: MPS Spain
11
International Rare Disease
Day
12
Advocacy
13
Upcoming Events
14
Treatments & Trials
16
Clinical Studies
18
Once Upon a Cure
20
An Evening in Italy
24
Fundraising
28
Publication List
32
Membership Form
33
Family Assistance Program
Application Form
34
We believe in a brighter future for those affected with and by
Mucopolysaccharide (MPS) and related lysosomal diseases. We envision
a future where patients no longer die from MPS and related diseases
because treatments have been developed, cures have been discovered,
and our government has made these treatments and cures accessible to
those who need and deserve them. In the future we envision, those
affected are living long, healthy and fulfilling lives - enjoying the company
of their friends, children and grandchildren.
Our Mission:
Founded in 1984, The Canadian Society for Mucopolysaccharide and
Related Diseases Inc. (The Canadian MPS Society) is committed to
providing support to individuals and families affected with MPS and related
diseases, educating medical professionals and the general public about
MPS, and raising funds for research so that one day there will be cures for
all types of MPS and related diseases.
Our Values:
The Canadian MPS Society values:
• community and compassionate support
• health and wellness
• justice and equality
• education and awareness
• research and innovation
• accountability and transparency
PO Box 30034, RPO Parkgate
North Vancouver, BC V7H 2Y8
Phone: 604.924.5130 / 1.800.667.1846
Fax: 604.924.5131
Email: [email protected]
www.mpssociety.ca
Charity # 12903 0409 RR0001
Smiles on the Front Cover: Maya Bosdet (MPS I) with her mother Lisa. The
Bosdet family is featured in our 2011 Annual Fund Campaign Mailer. Please
consider making a gift to the Society this holiday season.
Do you have family news, photos, fundraising news or an interesting article to share
with the Connection’s readers? We’d love to hear from you!
Please submit your information by email, if possible, to [email protected].
The articles in this newsletter are for informational purposes only, and do not
necessarily reflect the opinions of The Canadian Society for Mucopolysaccharide &
Related Diseases and its board of directors. We do not endorse any of the
medications, treatments or products reported in this newsletter, and strongly advise
that you discuss any drugs or treatments mentioned with your physician.
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BOARD OF DIRECTORS AND MEDICAL ADVISORY BOARD
BOARD OF
DIRECTORS
Bernie Geiss, Chair
North Vancouver, BC
Professional
604.924.3451
[email protected]
Carrie Nimmo, Vice-Chair
Vancouver, BC
MPS I Aunt
604.936.6183
[email protected]
Jean Linden, Secretary
Prince George, BC
MPS III Parent
250.564.3698
[email protected]
Brenda MacLean, Treasurer
Vancouver, BC
Professional
604.980.7556
[email protected]
Mary Nelis, Quebec Representative
Bedford, QC
MPS I Parent
450.248.7376
[email protected]
Barbara Boland, Newfoundland
Representative
St. John’s, NL
MPS III Parent
709.753.7874
[email protected]
Judy Byrne
Guelph, ON
MPS I Parent
519.836.5949
[email protected]
Todd Harkins
North Vancouver, BC
MPS I Parent
604.929.8969
[email protected]
Aubrey Hawton
Moonstone, ON
MPS III Parent
705.835.5288
[email protected]
Dan Priest
Richmond, BC
MPS IVB Parent
604.271.2995
[email protected]
Matthew Santos
Mississauga, ON
Adult with MPS IVB
905.542.1442
[email protected]
MEDICAL
ADVISORY BOARD
Lorne Clarke, Chair
M.D., C.M., F.R.C.P.C., F.C.C.M.G.
University of British Columbia
Vancouver, BC
Robin Casey
M.D., M.S.C.
Alberta Children’s Hospital
Calgary, AB
Joe Clarke
M.D., Ph.D.
Hospital for Sick Children
Toronto, ON
Serge Melancon
M.D.
Montreal Children’s Hospital
Montreal, QC
John Mitchell
M.D.
Montreal Children’s Hospital
Montreal, QC
Cheryl Rockman-Greenberg
M.D., C.M., F.R.C.P.
Winnipeg Children’s Hospital
Winnipeg, MB
Julian Raiman
M.D.
Toronto, ON
Tony Rupar
M.D.
CPRI
London, ON
Sylvia Stockler
M.D.
BC Children’s Hospital
Vancouver, BC
STAFF
Kirsten Harkins, Executive Director
[email protected]
Jill Ley, Executive Assistant
[email protected]
Aneal Khan
M.D.
Alberta Children’s Hospital
Calgary, Alberta
Mark Ludman
M.D., F.R.C.P.C., F.C.C.M.G.
IWK Health Centre
Halifax, NS
Eva Mamak
Ph.D. (Neuropsychology)
Toronto, ON
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“Rejoice in the things
that are present; all else
is beyond thee.”
- Montaigne
CHAIR’S REPORT
Hi everyone,
My name is Bernie
Geiss and I am the new
chair of the Canadian
MPS Society’s board. I
was elected to the board
in 2009 and to the chair
position in August of
2011. I have been involved with the Canadian MPS Society since
2006 as a donor and was drawn to become more active because of what I
learned. It was through attending the
MPS Cup Fantasy Hockey Game & Gala
in Vancouver and getting to know the
Harkins family that educated me about
the realities of this devastating disease.
Above all my heart strings were tugged
by the stories of both sadness and courage I heard involving affected individuals
and their families. I was also moved by
the fact that our government does not
have a Rare Disease Policy nor does it
have an Orphan Drug Policy. I wanted to
do more than just give money and attend
dinners so I got involved on the board. My
goal is to bring whatever relevant experience I have to bear on fulfilling the goals
of this great organization. It might be
small but it does good work.
hope for the future.
It is my hope to increase the involvement
of non-affected families in Canada so
they can join our voices to build a better
future for MPS-affected individuals in the
area of political advocacy, fund raising
and board development.
It is my hope that we can continue to
recruit board members who enthusiastically push our society forward with new
ideas for increasing awareness of us
within the community. To that end we will
develop and implement a new Board Development Policy. A vital board is important so that we can do more of what we
need to do.
It is my hope that we will continue to run
an effective board that is clear on its role.
To that end we will develop and implement a new Governance Policy for the
Society. Governance Policy is a step by
step manual describing how the board
manages itself to make sure we comply
with the requirements imposed upon us
from external agencies like the CRA’s
Charities Directorate as well as our own
policies and procedures that we set internally.
It is my hope to raise greater and greater
amounts of money to be able to achieve
The past board chairs and board memour objectives in research, family support
bers have done a phenomenal job of
and advocacy. To do that we need clear
building and maintaining a strong society guidelines on how our society supports
from both a financial and services perfundraising activities. It is equally imporspective. We have a dedicated Executive tant that fundraisers understand and comDirector in Kirsten Harkins who brings
ply with all relevant charity and tax rules
more to us than just administrative abiliwhen undertaking to promote their event
ties. She is tirelessly committed. We also using our name and reputation. To that
have a very dedicated office staff person end we will develop a Fundraising Policy
in Jill Ley. We all agree that there is much and a Fundraising Manual that will be
more that can be done and I look forward made readily available to anyone who
to building on what has be handed to me. takes up the torch for our causes in an
I envision an even stronger board and
empowering way.
society with clarity of purpose and reIt is my hope that more and more people
newed energy working towards some
see
the Canadian MPS Society as a despecific goals over the coming year. The
serving
and responsible recipient of
role of board chair is to direct the board
small, medium and large gifts. The receipt
and the society according to the vision
of these gifts brings a high level of reand mission statement of our society. I
sponsibility to insure that the goals of the
realize that I can't do things alone and
welcome the involvement of anyone will- donor are aligned with our society and
ing to make a contribution. I am filled with vice versa. We will endeavour to make
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sure that donors understand how important they are to us while committing to
transparency of management in a manner
that encourages giving again or telling
others about us. To this end we will develop a Gift Acceptance Policy.
I am excited to be involved in your society and look forward to reporting back
next year about all that has been
achieved. Our society is strong and has a
good foundation upon which to build. I
never lose sight of the fact that for a small
society we already have great capabilities. Help me maximize those capabilities
and grow our hope for a better future for
those with MPS.
Sincerely,
Bonjour tout le monde!
Mon nom est Bernie Geiss, je suis le nouveau Président du conseil de la Société
MPS. J’ai été nommé par le conseil en
2009 pour assumer mes fonctions à titre
de président, à compter du mois d’août
2011. Je fais partie de la Société depuis
2006, en tant que donateur, et lorsque j’ai
mieux compris ce que faisait la Société
j’ai décidé de m’impliquer davantage.
Lorsque j’ai assisté à MPS Cup Fantasy
Hockey Game (coupe de hockey fantaisiste MPS) et au dîner de gala à Vancouver, et que j’ai rencontré la famille
Harkins qui m’a fait connaître les ravages
causés par les MPS, toutes les ficelles de
mon cœur furent touchées par ces histoires tristes et courageuses que j’ai entendues au sujet des individus et leurs
familles. De plus, j’ai été très touché par
le fait que notre gouvernement n’a aucune politique en matière de maladies
rares et aucune politique sur les médicaments orphelins. Donc, je voulais m’impliquer davantage et non seulement à
titre de donateur et comme invité au dîner
de gala. C’est pourquoi j’ai décidé de
m’impliquer et de faire partie du conseil
de la Société. Mon but consiste à me
servir de toutes mes expériences connexes à l’atteinte des objectifs de cette
grande organisation.
RAPPORT DU PRESIDENT
Au cours des années passées, les
présidents et membres du conseil ont fait
un travail phénoménal en créant et
maintenant une Société forte sur le plan
financier et en matière de prestation des
services. Kirsten Harkins, notre directrice
générale dédiée contribue au-delà de ses
capacités en administration, elle fait
preuve d’un engagement inlassable.
Faisant partie de notre personnel
administratif, nous avons Jill Ley qui est
aussi très dédiée. Nous sommes tous
d’accord, qu’il reste encore beaucoup à
faire et j’anticipe organiser les tâches qui
m’ont été confiées. J’envisage une
Société plus forte et ayant une vision
claire, dotée d’une énergie renouvelée, et
visant des buts spécifiques au cours de la
nouvelle année. Le rôle du Président est
de diriger le conseil et la Société afin
qu’ils soient en lien avec la vision et
l’énoncé de mission. Je constate que je
ne peux effectuer ces tâches sans votre
soutien et j’invite tous ceux et celles qui
voudront bien apporter leur contribution.
Je suis rempli d’espoir pour ce que
l’avenir nous réserve.
procéderons à l’élaboration et à la mise
en œuvre d’une nouvelle politique
d’amélioration du conseil. Un conseil vital
c’est important, car cela nous permettra
d’aller au-delà de ce que nous devons
faire.
collectes de fonds qui seront faciles
d’accès, afin d’aider ceux qui veulent
promouvoir la cause des MPS.
J’ai l’espoir qu’il y aura de plus en plus
de gens qui percevront la Société comme
étant un organisme responsable et digne
de recevoir de petits, moyens et grands
J’ai l’espoir que nous continuerons à
gérer un conseil efficient, avec une vision cadeaux. C’est une grande
responsabilité de recevoir ces cadeaux,
claire en ce qui a trait à sa mission. À
cette fin, nous procéderons à l’élaboration ce qui exige que les buts des donateurs
soient alignés avec ceux de la Société et
et la mise en œuvre d’une nouvelle
vice et versa. Nous poursuivrons nos
politique sur la gouvernance pour la
Société. La politique sur la gouvernance efforts afin de nous assurer que les
donateurs comprennent à quel point ils
sera un guide qui décrira les étapes, à
savoir, comment le conseil s’autogère, et sont importants pour nous, et ce, tout en
continuant notre engagement à
ce, afin de nous assurer que nous
démontrer de la transparence dans notre
respectons les exigences qui nous ont
gestion, d’une façon qui encouragera les
été imposées par les agences externes
donateurs à continuer à donner et faire
comme la direction générale pour les
organismes de bienfaisance de l’Agence connaître notre Société. À cette fin, nous
élaborerons une politique d’acceptation
du revenu du Canada, et aussi pour
des dons.
respecter nos propres politiques et
procédures internes.
Je me réjouis de pouvoir faire partie de
J’ai l’espoir d’amasser de plus grandes la Société et j’anticipe vous informer l’an
prochain, de nos progrès et réalisations.
sommes d’argent afin que nous soyons
Notre Société est forte et possède une
en mesure d’atteindre nos objectifs en
fondation solide sur laquelle nous
matière
de
recherches,
l’appui
aux
J’ai l’espoir d’accroître l’implication des
pouvons construire. Jamais je ne perds
familles
et
notre
cause.
Pour
atteindre
familles non-affectées par les MPS au
de vue, le fait que, bien que notre Société
nos
objectifs
nous
devrons
établir
des
Canada, afin qu’elles joignent nos voix
soit petite, nous avons déjà d’énormes
directives
claires,
à
savoir,
comment
pour créer un avenir meilleur pour les
possibilités. Aidez-moi à maximiser ces
notre
Société
soutien
les
activités
de
individus affectés par les MPS, pour la
possibilités et à accroître notre espoir
levées
de
fonds.
C’est
également
défense de la cause, faire des levées de
pour un avenir meilleur, à la cause des
important
que
les
leveurs
de
fonds
fonds et pour l’amélioration du conseil.
MPS.
comprennent et respectent tout ce qui
J’ai l’espoir que nous pourrons continuer concerne les activités de bienfaisances et
à recruter des membres pour faire partie les règles fiscales, car lorsqu’ils décident Sincèrement vôtre,
de promouvoir un événement, ils utilisent
du conseil qui, par leur enthousiasme,
pourront trouver de nouvelles idées pour notre nom et notre réputation. À cette fin,
nous élaborerons une politique de
nous mieux nous faire connaître auprès
collecte de fonds et un guide pour les
de la communauté. À cette fin, nous
2012 MEMBERSHIP RENEWALS
Early in December, you received an emailed reminder to renew your membership online. If we do not
have your email address, please fill out and submit the membership form on page 33.
Your 2012 membership will be valid through December 31, 2012. When you renew online, your membership will be
updated automatically and the Society will save on printing and postage costs. When renewing online, please first
login to your account (if you don’t remember your password, the website will email it to you) then renew your membership and update your profile so that we have your consent to include your contact information in our membership
directory and to reprint your child(ren)’s photos, birthdates and/or memorial dates.
Thank you for your continued support!
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EXECUTIVE DIRECTOR’S REPORT
Happy Holidays,
everyone!
nual meeting of the International MPS
Network. Gathering together with those
from the international MPS community is
In the pages of this issue always an inspiration, and this time in
you’ll find many things to particular I was so enamoured by a new
celebrate: the success of friend I met – Liu Yuan Chao, a 15-yearseveral amazing fundold affected by MPS II from mainland
raisers, the initiation of
China. Yuan Chao gave me a beautiful
an exciting clinical trial,
drawing of a panda (which is hanging in
and the beginning of a
new term for our incoming
board chair, Bernie Geiss.
In September, Deb and Ryan
Purcell organized a starstudded, whimsical and incredibly successful event entitled Once Upon a Cure to
raise funds for the Society’s
MPS II Research Fund (see
page 20). In October, Dan and
Tina Priest brilliantly hosted
An Evening in Italy - their
second annual Journey of
Hope event to benefit the Society’s MPS IV B Fund (see
page 24) - and gave the 200plus guests many reasons to
sing ‘That’s Amore’. And the
More family (page 28) rallied
their families and friends to
walk and run under the exceptionally fitting team name No
MORE MPS in the Scotiabank Toronto Waterfront
Marathon, raising thousands
of dollars for the Society. Of
course, we would be remiss if
we didn’t recognize Brooke
Hodson’s 10th walk around
Cowichan Lake in the 2011
Great Lake Walk. Brooke has
now walked an incredible 560
kilometres in support of kids
with MPS and related diseases. Thank you so much,
Above: Kirsten with her new friend Liu Yuan Chao;
Brooke – we must owe you a
Page
7: Members of the International MPS Network
new pair (or two) of running
shoes by now!
my office), a lovely red rose at the gala
One of the highlights of the fall for me
dinner, and a very special reminder that
was a trip to Taiwan where the Taiwan
no matter where we come from, we in the
MPS Society graciously hosted its 3rd
MPS community are all dealing with simiAsia-Pacific Forum for Families &
lar challenges and doing our best to live
Caregivers on MPS as well as the an6
the best lives we can. I’ll be hard-pressed
to receive any gifts over the holiday season that are equal to those given to me
by this very special young man.
As you’ll read in his report, Bernie is
enthusiastically helping us to move forward toward increased board engagement and policy development, with an
ultimate goal of achieving our vision of a
brighter future for Canadians affected
with and by MPS and related diseases.
We head into the New Year filled with
appreciation for all that our members do
to raise awareness and to raise funds to
help us continue our work, and we welcome your participation in our programs
and activities in 2012.
May your holidays be filled with magical
and meaningful moments with family and
friends, and gifts that enrich your spirits.
Blessings to you all,
Joyeuses Fêtes à tous!
Dans les pages de ce numéro, vous
trouverez beaucoup d’événements à
célébrer: le succès de plusieurs
campagnes de financement
extraordinaires, le lancement d'un essai
clinique passionnant, et le début d'un
nouveau terme pour notre Président du
conseil : Bernie Geiss.
En septembre, Deb et Ryan Purcell ont
organisé un événement fantastique d’un
succès éclatant qui était intitulé « Once
Upon a Cure » (Il était une fois un espoir
de guérison), afin d’amasser des fonds
pour la recherche de la Société MPS II
(voir page 20). En octobre, Dan et Tina
Priest ont brillamment organisé « An
Evening in Italy » (une soirée en Italie) leur second événement « Journey of
Hope » (voyage en l’espoir) au profit de
la société MPS IV B (voir paont donné à
leurs invités, plus de 200 ge 24) - et ils
raisons pour chanter «That’s Amore».
RAPPORT DE LA DIRECTRICE EXECUTIVE
Plusieurs familles (page 28) ont ralliés
leurs proches et leurs amis pour marcher
et courir, et cette équipe exceptionnelle
portait un nom de circonstance « No
More MPS » (c’est la fin des MPS), lors
de l’événement du Marathon Scotiabank
Toronto Waterfront, lequel a permis
d’amasser des milliers de dollars pour la
Société. Bien sûr, nous serions
négligents si nous ne reconnaissions pas
la 10ième marche de Brooke Hodson : la
Marche 2011 des Grands Lacs, qui s’est
déroulée autour du Lac Cowichan.
Brooke a fait une marche incroyable de
560 kilomètres à l'appui des enfants
affectés par les MPS et les maladies
apparentées. Merci beaucoup Brooke –
jusqu’à maintenant, nous vous devrions
vous rembourser au moins une ou deux
paires de chaussures de courses!
Un des faits saillants de l’automne fut
pour moi un voyage à Taiwan où la
Société MPS de Taiwan a offert
gracieusement son 3e Forum AsiePacifique sur les MPS, pour les familles
et les aidants naturels, ainsi que la tenue
de la réunion annuelle du Réseau
international des MPS. Le fait de se
réunir avec les membres de la
communauté internationale MPS est
toujours une source d'inspiration, et cette
fois-ci particulièrement, car j'ai été
beaucoup épris par un nouvel ami que j'ai
rencontré - Liu Yuan Chao, 15 ans,
touché par les MPS II, résidant de la
Chine continentale. Yuan Chao m'a
donné un beau dessin d'un panda (qui
est accroché dans mon bureau), une
belle rose rouge au dîner de gala, et un
rappel spécial et je cite : «… peu importe
d'où nous venons, nous dans la
communauté MPS, nous sommes tous
aux prises avec des défis similaires et
faisons de notre mieux pour vivre la
meilleure vie qui soit ». Lors de la saison
des fêtes, je me sentirai mal à l’aise
d’accepter tous cadeaux équivalents à
ceux m’ont été donnés par ce jeune
homme aux qualités particulières.
Comme vous pourrez le lire dans son
rapport, Bernie nous aide de façon
enthousiaste, afin de faire avancer les
engagements du conseil en matière
d'élaboration des politiques, et pour
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atteindre l’objectif ultime de notre vision :
un avenir meilleur pour les Canadiens
affectés par les MPS et les maladies
apparentées. Nous nous dirigeons vers la
nouvelle année remplie de gratitude pour
l’appui et les efforts que nos membres
nous offrent afin de sensibiliser la
population et pour d’amasser des fonds
pour nous permettre de continuer notre
travail. Nous nous réjouissons à l’avance
de votre participation à nos programmes
et nos activités en 2012.
Que vos vacances soient remplies de
moments magiques et significatifs, en
compagnie de votre famille et vos amis,
ainsi que des cadeaux qui rempliront vos
cœurs.
Bénédictions à vous tous.
MEDICAL ADVISORY BOARD MEMBER : DR ANEAL KHAN
eyes - they are looking to into the future –
and we all would want to promise a child
that there will be a future.
WHY DID YOU BECOME A DOCTOR?
I have always been interested in biology
and in particular how the human body
works and why people become sick. I
didn’t just want to learn about the science
though, I wanted to be able to do things
on a daily basis that would improve the
lives of patients when they are sick.
TELL US A LITTLE BIT ABOUT YOUR
FAMILY:
I have a lovely wife and 2 children – a 5
year old boy and 3 year old girl. I know
have a much better understanding when
parents tell me their struggles in getting
their children to eat their meals, take a
bath and trying to keep the car clean (I’ve
realized the latter is a fleeting goal).
WHAT LED YOU TO BECOME INVOLVED IN MPS DISEASES?
I found that in the last few decades we
had learned so much about the biochemistry of the human body and this opened
to door to understanding and treating
many Metabolic diseases. Managing patients with MPS diseases meant that you
were involved for the long haul and would
get to know your patients, about their
lives and challenges and not just about
the disease itself. Also, MPS diseases
were at the forefront of finding new treatments where patients’ lives could be improved with technologies that I could use
in the near future. I found that it was hard
for patients to find physicians that could
connect with the struggles and challenges
that faced and I wanted to be there for
them as they faced a journey most people
would not understand.
PERSONAL INTERESTS/HOBBIES:
Having as many barbecues as possible
and getting to as many trails as I can in
the Rocky Mountains during our short
summers.
WHAT INSPIRES YOU?
WHAT WOULD WE BE SURPIRSED TO
LEARN ABOUT YOU?
What inspires me is the hope that the
future will be better than the past, that all
of the work everyone is doing is making a I love to race cars on closed tracks.
real difference each and every year.
What inspires me is looking into a child’s
WELCOME NEW MEMBERS:
Linda Hawbolt: Linda is the grandmother of a child in England diagnosed with MPS I-H
Mary Cavanagh: Mary is the mother of Scott Cavanagh (MPS IVA)
Paul Pennington: Paul is the grandfather of Maya Bosdet (MPS I H/S)
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BIRTHDAY WISHES
HAPPY BIRTHDAY!
JANUARY
Tyler Huneault – January 2, 1999 – ML I
Jasper More – January 9, 2009 – MPS VI
Stefan Gacic – January 15, 2000 – MPS IV A
Gregory Alan Lipton – January 21, 1989 – ML IV
Raza Amin – January 25, 1999 – MPS III B
FEBRUARY
Sheena Hodder – February 4, 1985 – MPS III C
Jean-Luc Amirault – February 23, 2000 – MPS I H
MARCH
Trey Purcell – March 1, 2004 – MPS II
Colin Collins – March 9, 1975 – MPS III A
Andrew Lanese – March 10, 1997 – MPS II
Sophie Marie Hamza – March 14, 2008 – MPS III B
McKay (Mac) Stiles – 21 March, 2004 – MPS I H
Elisa Linton – March 31, 1994 – MPS III B
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WE GRATEFULLY ACKNOWLEDGE OUR DONORS:
Karen Tomkins
In Memory of Scott Burns
John Sheu
Premier Marine
Margaret Ryan
Lissa Matyas
John Beldman Construction Ltd.
Laura-Lee Walker
In Memory of Gayle Purcell *
Shire Human Genetic Therapies
(Canada) Inc.
Andrea Matyas
Marleen Ferguson
Synergy Foundation
In Memory of Andrew Perry
In Memory of Ron Cavanaugh
Ahmed Lahiouel
Ronald & Betty Anne Perry
Winnie Hennessy
Tina Haldenby (Steps to a Cure
Ron & Betty Anne Perry
In Honour of Monika Nelis-Dupont
Barbara Cavanaugh
Stanbridge East United Church Women
MPS II Research Fund Donations
Marilyn & Omer Cormier
Joyce Golbourn
Lorne & Christine Bruce
Steve Sachs & Joanne Cavanaugh
fundraiser)
Maxwell Winter
In Memory of Matthew Di Ilio
Jorge Paclawsky
Linda Ward
Karen Berkhout
Melissa Barrie
*indicates donations were allocated to the
MPS II Research Fund
In Memory of Beatrice Wagner *
Zdenka Prunkl
Ilse Cehak
In Memory of Peggy Johnson
In Memory of Greg Matyas
Dave & Sandy Klein
Peter Kerekes
Remembering our Children:
Bill Baillie – March 10, 1969 – January 8, 2000, MPS II
Abdullah Alglaieny – September 14, 1987 – January 15, 2007, Fucosidosis
Scott Haines – November 21, 1963 – January 27, 1991, MPS III
Damien Kaweski – September 3, 1992 – March 3, 2011, MPS IVA
Jenna-Anne Woodworth – September 20, 1983 – March 11, 1989, MPS (undiagnosed type)
Lindsey Olsen – April 25, 1983 – March 19, 2002, MPS III B
Jason Furoy – August 30, 1979 – March 30, 2003, MPS I S
10
IN THE NEWS
7th National MPS Family
Congress—Barcelona, Spain
get involved and be able to say
anywhere: I am research". She also
encouraged everyone to visit the
website of the Spanish
MPS Society,
www.mpsesp.org for
more information about
MPS disorders, that
affect both adults and
children, giving them a
life expectancy of 10 to
15 years and affecting
their vital organs, and for
which there is no cure.
Also attending the
Congress, held on the
Campus of Bellaterra of
the Autonoma University of
"All institutions, companies and also any citizen should Barcelona, were
get involved and be able to say anywhere: I am research." researchers and physicians,
families and affected
said the Princess of Spain.
children with whom the
Princess was very close as
she knew some of them from a previous
The Princess of Spain, Mrs. Letizia Ortiz
meeting held at the Zarzuela Palace in
appealed to citizens to become involved
Madrid in January 31, 2011.
in scientific research to inaugurate the 7th
National Scientific/Family Congress of
In the nearly two hours in which she
MPS Spain, which took place the last day participated in the Congress, Princess
of October, 2011.
Letizia talked to everyone, took photos,
and became interested in the activities
In her speech, in Catalan and Spanish,
that were taking place for children in the
Princess Letizia advocated philanthropy
MPS nursery, where the children were
as a way to promote scientific culture,
being looked after during the sessions.
because, in her words, "all institutions,
At that time, she read the children two
companies and also any citizen should
versions of the book "The Little
Odyssey", one in Catalan and the
other in Spanish, a story about a
group of children affected by MPS
diseases.
‘The Little Odyssey’, a book about a
group of children with MPS
Princess Letizia reads from ‘The Little
Odyssey’ to children in the nursery
identify researchers in these diseases, to
monitor how doctors treat affected
patients and how many patients there
are, and to try to become more effective
in the fight against MPS and other rare
diseases.
Researcher Fatima Bosch also
participated in the Congress, and
explained how research into gene therapy
hopes to directly restore the defective
enzyme in the affected organs.
Submitted by Mercedes Cruz
Spanish MPS Society
The Minister of Health of the
Generalitat of Catalonia, Mr. Boi Ruiz,
who also attended the ceremony,
recalled that there are 400,000 people
affected by the 7,000 known rare
diseases, and in Catalonia diagnosis
is often difficult. In his speech he
announced that the Catalonian
Government has said that the affected
patients and their families should not
have to continue to suffer the long
process leading up to diagnosis. He
Princess Letizia talks with other participants at
explained that the government has
the Congress
created a platform and a network to
11
INTERNATIONAL RARE DISEASE DAY
CELEBRATE THE RARE!
International Rare Disease Day is February 29, 2012. Canadian Organization
for Rare Disorders (CORD) is planning a number of activities in celebration of
this truly unique day for extraordinary people!
February 29, 2012 - Ottawa, ON:
Action Day on Parliament Hill: join others from Canada affected by rare disorders
and help spread the word to parliamentarians about rare diseases and the challenges facing Canadians living with them. Participants will be divided into small
groups and visit 3-4 MPs delivering messages about their own experiences and
about CORD’s proposals for possible rare disease legislation. After this, attend
Question Period to see our federal government in action! Visit www.raredisorders.ca
for more information about Action Day and travel bursaries available.
2012 Rare Disease Day Gala
CORD is pleased to announce the first annual Rare Disease Day Gala in support of rare disease research to be held on February
29, 2012 at the Ottawa Marriot Hotel. Ticket Prices: $150 individual, $90 Non-Profit/Patient. Visit www.raredisorders.ca for event
details and updates.
The Global Genes Project is preparing to celebrate International Rare Disease Day by providing a number of resources to help you celebrate in whatever way is most meaningful to you!
World Rare Disease Day is a time when the global community comes together in unity, to build
voice, awareness and support for the hundreds of millions of patients and their families affected by
rare disease. The Global Genes Project™ is a campaign that works to help individuals and organizations participate in this annual Day Of Unity. Global Genes Project™ has put together resources
and ideas about how to participate and get involved, garner support or show your support! Visit
www.globalgenesproject.org to view the resources available and contact [email protected] with
any questions.
Join the discussion about International Rare Disease Day at www.rarediseaseday.org.
MAY 15th IS INTERNATIONAL MPS AWARENESS DAY!!
International MPS Day began as a way to honour everyone in the MPS
Community, to recognize, remember and rejoice in each other.
On International MPS Day we:

Remember all the children and adults who suffer from MPS diseases.

Think about the children we have lost.

Think about the doctors and scientists who are dedicated to finding a cure for MPS.

Remember each other and be thankful for the strength and support we both give and receive.
Please join us in celebrating by sending e-cards available at www.impsn.org or consider
hosting a Canadian MPS Jeans Day as a means to raise awareness and funds - it’s easy to do!Just
email or call the Society office for a proposal template for your school or business, and if approved, let us
know how many people you anticipate will be participating. You will receive a Canadian MPS Jeans Day
package with enough stickers for your event. Packages will also contain 2 posters, 5 colour brochures
(you will have to photocopy enough brochures to distribute at your event), and a donor information sheet
to record the names and addresses of those wishing to receive income-tax receipts for donations of
$10.00 and over. Participants simply wear their jeans on Jeans Day & donate!
12
ADVOCACY
ENZYME REPLACEMENT THERAPIES
Since enzyme replacement therapies
(ERTs) for MPS I and MPS II have not
been recommended for funding by the
federal Common Drug Review (CDR), it
continues to be up to provincial, territorial,
and federal funders to either follow those
recommendations or fund these treatments regardless. ERT for MPS VI has
not yet been submitted for regulatory approval by Health Canada, so is only available through the Special Access Program
(SAP) and applications are reviewed on a
case-by-case basis. Patients in several
provinces are receiving funding for ERT,
but others are not. The Society is committed to assisting patients receive the treatments they need and deserve. Contact us
to find out what we can do to help.
DISEASE CARE AND
MANAGEMENT
Point for Rare Disorders in Canada”
meeting organized by Canadian Organization of Rare Disorders (CORD). The
meeting, which took place September
15th and 16th in Toronto, featured presThe Society is also here to help assist its
entations on innovative and sustainable
members in accessing services and care
approaches to treating, researching, and
to aid in overall disease care and manfunding rare disorders, how patient oragement. We have DVDs, booklets, fact
ganizations can take an active role and
sheets, and PowerPoint presentations
push the treatment boundaries, how best
available and are happy to speak with or
to apply health technology assessment
write to teachers, community support
technologies (HTA) to rare disease treatworkers or allied healthcare professionals
ments, where we’re at in terms of a proin order to provide information that may
posed Orphan Drug regulatory framebe beneficial.
work. A summary of the proceedings will
be available on the CORD website soon,
and for now all the meeting presentations
are posted at www.raredisorders.ca.
The Society continues to collaborate with
other Canadian rare disease organizations and with international MPS societies
to reach common goals. The Society was
well-represented at the recent “Tipping
COLLABORATION
Do you live in the Greater Vancouver Area? Are you curious about the benefits of yoga? Attend any of YYOGA’s weekly bydonation classes in the lower mainland during the months of Jan-March, 2012- all proceeds will be donated to the Society!
13
UPCOMING CONFERENCES & EVENTS
TRAVEL BURSARIES AVAILABLE FOR NATIONAL FAMILY
CONFERENCE & INTERNATIONAL MPS SYMPOSIUM:
The Canadian MPS Society is pleased to
announce that it will be providing a limited
number of travel bursaries, of up to $500
each, to help families attend our 2012
National Family Conference at the
Nottasawaga Inn Resort in Alliston,
Ontario, from July 27 to July 29. These
bursaries will be awarded to parents or
legal guardians of children affected with
MPS or a related lysosomal storage disease, or to affected adults. Only one bursary will be awarded per family.
advances in clinical management and
research, and to meet families from
around the world affected by MPS.
Please visit www.MPS2012.eu for more
information.
Because we know how much our
members could benefit from attending
this sympoisum, the Canadian MPS
Society’s Board of Directors has decided
to offer a Travel Stipend Program to
assist Society members in travelling to
the Netherlands for the symposium.
Conference travel bursaries can be used Stipends will consist of $1,000 grants,
which can be used to assist with
to assist with travel, registration or acregistration, travel, or accommodations
commodation expenses. For more deexpenses. Society members will be
tails, please see the application form
posted on our website, or contact the So- responsible for booking their flights and
ciety office to receive a hard copy. Com- accommodations, but should register for
the symposium through the Society.
pleted conference application forms
Stipend guidelines and the application
with explanatory letters must be reform are posted on our website.
ceived by the Society no later than
April 30, 2012.
Completed symposium application
forms must be received by mail, email
From June 28-July 1, 2012, the 12th
(scanned forms) or fax (604-924-5131) by
International Symposium on
the Society no later than February 15,
Mucopolysaccharide and Related
2012. The symposium’s early bird
Diseases will be held in
Noordwijkerhout, the Netherlands. This registration deadline is March 1, 2012,
so we must make funding decisions in
symposium represents a fabulous
time to meet the early-bird deadline.
opportunity to learn about recent
GUIDELINES:
The following guidelines apply:
 Applicants must be current Canadian
MPS Society members (dues must be
paid for 2012);
 Applicants must be parents or
guardians of an affected child or adult, or
be affected adults;
 Applicants must be Canadian
residents;
 Applicants must attend all conference
sessions while at either conference;
 Only one application per member
family will be considered;
 Applicants must complete the
appropriate application form and submit
by the deadline;
 Bursary recipients must submit a
letter to the Society following the
conference or symposium explaining how
they benefited from the experience.
We hope that many of our members will
be able to participate in either or both of
these upcoming conferences!
UBC’S “ALLIES IN HEALTH” COMMUNITY AND PATIENT FAIR
On November 2, 2011, the
Canadian MPS Society had a
booth at UBC’s “Allies in
Health: 3rd Annual Community
and Patient Fair for Health
Professional Education.”
Graduate student David Back
joined us at the booth (pictured
at right with Jill Ley) to interview us about the Society and
former Summer Studentship
recipient and current UBC
medical student Sarah
Truelson (pictured at far right)
stopped by for a visit.
14
UPCOMING CONFERENCES & EVENTS - ADD MPS CUP&YY
UPCOMING CONFERENCES
& EVENTS
Please visit www.mpssociety.ca for more information:
January, February, March 2012: The Canadian MPS Society will be the
recipient of the funds donated through YYoga’s by-donation classes.
YYoga studios are located throughout the Greater Vancouver Area. Pease
visit www.yyoga.ca for class schedules and more information.
February 7, 2012: Just Singin’ Round at the Vancouver Rowing Club;
visit our website for more information and tickets, and for more information
on the Synergy Collective Society, visit www.synergycollective.com.
February 8-12, 2012: WORLD Symposium; the annual research meeting
of the Lysosomal Disease Network; San Diego, CA, USA. For more information visit www.LysosomalDiseaseNetwork.org.
February 29, 2012: International Rare Disease Day; celebrate this “rare”
day for unique and amazing people! See page 12 for more details.
March 28, 2012: 13th Evening for Elisa Gala. www.alifeforelisa.org
May 12, 2012: 10th Annual MPS CUP Fantasy Hockey Game & Gala;
Vancouver, BC. Visit www.mpscup.ca for updates - please join our team!
Invitation to the Netherlands!
Dear friends and colleagues,
May 15, 2012: International MPS Awareness Day; consider holding a
Canadian MPS Society Jeans Day or celebrate the day in any way that is
meaningful to you and your family. Visit our website for more information.
We have great pleasure in inviting you all to the
12th International symposium on MPS and related June 28-July 1, 2012: 12th International MPS Symposium; Noordwijkerdiseases, which will be held in Noordwijkerhout, the hout, The Netherlands. Visit www.MPS2012.eu for more information. See
Netherlands, from 28 June to 1 July 2012.
page 14 for travel bursary information.
By bringing patients, parents and families together
with professionals, the symposium will be able to
share information on all aspects of MPS and related disorders. The overall objective is to advance
the quality of care and treatment.
As well as musculoskeletal disease and MPS, the
brain and MPS, and new approaches to treatment,
the main topics of the symposium will be pricing
and reimbursement. All will be covered in joint sessions attended by doctors, scientists, patients and
patients’ families. Separately, doctors and scientists will also attend more detailed sessions on the
CNS, bone disease and novel approaches to treatment.
July 27-29, 2012: The Canadian MPS Society’s National Family Conference; The Nottawasaga Inn, Alliston, Ontario. See page 14 for travel
bursary information - we hope you’ll be able to join us!
The symposium will be held at the four-star NH Leeuwenhorst conference
center in Noordwijkerhout, which is approximately 20 minutes from Amsterdam Schiphol airport and 30 minutes from the city of Amsterdam. Noordwijkerhout lies very near to a coast with long sandy beaches, and various major cities and sites of interest are within easy reach. Special activities will be
organised for young patients and their siblings, who will be accompanied by
trained volunteers.
On behalf of the organizing committee, we look forward to welcoming you to
Noordwijkerhout next June,
Families will not only have opportunities to meet
Frits Wijburg
peers from other countries, but will be able to attend sessions on optimizing care, dealing with clini- Ans van der Ploeg
cal issues and surgery in MPS, and ‘living fully with Hanka Meutgeert
15
TREATMENTS & CLINICAL TRIALS
MPS I:
Aldurazyme (laronidase) enzyme replacement therapy (ERT) was licensed
for use by Health Canada on May 31,
2004, for long-term treatment in patients
with a confirmed diagnosis of MPS I, to
treat the non-neurological manifestations
of the disease. For more information,
please visit www.aldurazyme.com.
The Los Angeles Biomedical Research
Institute at Harbor-UCLA Medical Center
in Torrence, California, and the University
of Minnesota are collaborating on three
studies of intrathecal enzyme replacement therapy (ERT) for patients with
MPS I:
MPS I Intrathecal ERT for Spinal Cord
Compression:
Enzyme replacement therapy (ERT) has
been developed for MPS I. ERT helps
many physical ailments due to the disease, but does not treat the central nervous system due to inability to cross the
blood brain barrier. The purpose of this
study is to test delivery of ERT to the spinal fluid via intrathecal (IT) injection in
patients with MPS I to find out whether
giving ERT directly into the spinal canal
can help reduce spinal cord compression
and provide an alternative to surgery.
have MPS I. The term “cognitive decline”
refers to a change for the worse in the
ability to think and learn.
Study participants will have:

up to 10 treatments given one to
three months apart over two years
(treatment group) or four treatments
given three months apart beginning
at month 12 (control group)

physical examinations (general and
neurologic)

neuropsychological testing for cognitive decline and MRI of the brain

reimbursement of travel expenses
Additional information can be found at
www.clinicaltrials.gov; search under
“mucopolysaccharidosis” or contact
Principal Investigator Dr. Patricia Dickson
at 310-781-1399 or [email protected].
placement therapy (ERT) was approved
by Health Canada for the treatment of
MPS II. For more information, please visit
www.hunterpatients.com.
Shire MPS II Intrathecal Study:
Dr. Joseph Muenzer is conducting a
Phase I/II (Safety/Dosage) trial using intrathecal ERT for the treatment of MPS II,
with a goal of preventing central nervous
system involvement. This study is taking
place at the University of North Carolina
in Chapel Hill, NC. If you are interested in
obtaining more information about the
clinical trials, please contact Dr. Muenzer
(919)966-1447, or study coordinator
Heather Preiss at (919)843-5731 or
[email protected].
MPS III:
A Phase I/II Study of ERT for MPS IIIA:
Shire Human Genetic Therapies is developing a sulfamidase enzyme replacement
The University of Minnesota in Minneapo- therapy (ERT) for patients with MPS IIIA.
lis has obtained FDA approval for the de- rhHNS is being administered into the
livery of laronidase into the spinal fluid of cerebrospinal fluid (CSF) via a surgically
children with MPS I (Hurler syndrome)
implanted intrathecal drug delivery device
being considered for marrow/cord blood
(IDDD), because when administered intransplantation. The goal of these studies travenously (IV) it does not cross the
is to decrease the neurophsychologic
blood brain barrier (BBB).
decline that has been observed in chilThis study is a multicenter, multiple-dose,
dren with Hurler from the time the padose escalation study designed to evaluStudy participants will have:
tients are initially evaluated to the time
ate the safety, tolerability, and clinical
they are one year from transplantation.
 up to 16 IT ERT treatments given one The study will involve four doses of laroni- activity of up to 3 dose levels (2 doses [10
to three months apart over one-and- dase given during a lumbar puncture ap- and 45mg] monthly and 1 dose [45mg]
every other week for 6 months) of rhHNS
a-half years
proximately three months before transplantation, at the time of admission to the administered via an IDDD in patients with
 physical examinations (general and
Sanfilippo syndrome Type A ages greater
hospital for the transplant, three months
neurologic)
after the transplant, and six months after than or equal to 3 years of age.
 other diagnostic tests
the date of the transplant.
The phase I/II clinical trial is planning to
enroll 15 patients. The study is expected
 reimbursement of travel expenses
Principal Investigator Dr. Paul Orchard
can be contacted for more information at to be completed March 2012, and the
duration of the study for each patient is
612-626-2961 or [email protected].
MPS I Intrathecal ERT for Cognitive
nine months. The Phase I / II clinical
Decline:
study is being conducted at two sites:
The purpose of this research study is to
Emma Children’s Hospital, Academic
find out whether giving ERT with
Medical Center in The Netherlands by Dr.
Aldurazyme as an injection directly into
Frits Wijberg and the St. Mary’s Hospital
the cerebral spinal fluid can stabilize or
in Manchester, UK under the direction of
On June 15, 2007 Elaprase enzyme reimprove cognitive decline in patients who
MPS I Intrathecal ERT for Children
Being Considered for Transplant:
MPS II:
16
TREATMENTS & CLINICAL TRIALS
MPS VI:
Drs. Simon Jones and Ed Wraith. Additional information about the clinical trial
can be obtained at www.clinicaltrials.gov
(Identifier: NCT01155778) or by contacting Tiffany Crump at 484-595-8257 or
[email protected].
news. In addition, visitors have the option
to register on the website to receive news
about updates via email. Further information about MorCAP (natural history study)
and MOR-004 is also available on
www.clinicaltrials.gov at this link: http://
www.clinicaltrials.gov/ct2/show/
NCT00787995?term=morquio&rank=2.
Genistein Aglycone:
Brian Bigger’s research team from the
University of Manchester’s MPS Stem
Cell Research Laboratory found that
“Genistein may prove useful as a substrate reduction agent to delay clinical
onset of MPSIIIB and, due to its multimodal action, may provide a treatment adjunct for several other neurodegenerative
metabolic diseases.” Please visit our
website for more information.
Editor’s note: There is no word on when
Patients or physicians who are interested
BioMarin will apply for licensing approval
in participating in MorCAP or MOR-004
for Naglazyme in Canada. For more inforcan contact the Society for more informamation, please contact BioMarin Patient
tion.
and Physician Support (BPPS) at 1-866906-6100 or [email protected].
If you have particular questions about
operational aspects of BioMarin’s trials,
you can contact Candice Henkel at
[email protected] or 415-506-6973.
For additional medical questions related
to MPS IV A and the clinical details of
A gene therapy clinical trial for MPS VII,
BioMarin’s program, please contact the
Medical Director for BioMarin’s MPS IV A also known as Sly syndrome, has been
put on hold pending additional data.
program, Celeste Decker, at
[email protected] or 415-506-6469.
A clinical trial of high-dose Genistein
Aglycone will be beginning soon in Manchester (UK), with Simon Jones as the
principal investigator. Frits Wijburg is
also conducting a Genistein study at the
Amsterdam Medical Centre.
Dr. J. M. Heard is currently recruiting patients for a MPS IIIB AAV gene therapy
clinical trial, to be conducted at the institute Pasteur in Paris, France.
MPS IV:
BioMarin Pharmaceutical Inc. has initiated the much anticipated Phase 3 study
(MOR-004) for N-acetylgalactosamine 6sulfatase (GALNS) for the treatment of
Morquio A Syndrome (MPS IVA). Please
visit our website to read BioMarin’s press
release and for more details on trial
guidelines. Currently there are three
Canadian sites for this trial: Montreal and
Sherbrooke, Quebec and Toronto,
Ontario, with the possibility of additional
sites in Western Canada.
BioMarin’s MPS IV A program’s website
(www.morquiobmrn.com) is a great place
to look for current information. It will be
updated at least four times per year, and
of course, more often if there is significant
The U.S. Food and Drug Administration
(FDA) granted marketing approval for
Naglazyme(TM) (galsulfase), enzyme
replacement therapy (ERT) for the treatment of MPS VI, on June 1, 2005.
MPS VII:
Please visit our website for information on
treatments for other types of LSDs.
CLASSIFICATIONS OF MPS DISEASES:
People born with mucopolysaccharide (MPS) and related lysosomal storage diseases (LSDs) cannot produce certain enzymes necessary for breaking down and
recycling materials in cells. Consequently, these materials store throughout the
bodies of those with LSDs, causing damage to their hearts, respiratory systems,
bones, joints, and central nervous systems. Affected babies may show no signs of
disease, but as more cells become damaged and storage increases, symptoms
begin to appear.
Syndrome
Eponym
Enzyme Deficiency
MPS I
a-L-Iduronidase
MPS II
MPS III A
MPS III B
MPS III C
Hurler, Scheie,
Hurler-Scheie
Hunter
Sanfilippo A
Sanfilippo B
Sanfilippo C
MPS III D
MPS IV A
MPS IV B
MPS VI
Sanfilippo D
Morquio A
Morquio B
Maroteaux-Lamy
MPS VII
MPS IX
Sly
17
Iduronate sulfatase
Heparan N-sulfatase
a-N-Acetylglucosaminidase
Acetyl CoA: a-glycosaminide
acetyltransferase
N-Acetylglucosamine 6-sulfatase
Galactose 6-sulfatase
b Galactosidase
N-Acetylgalactosamine 4-sulfatase
(arylsulfatase B)
b-Glucuronidase
Hyaluronidase
CLINICAL STUDIES OPEN FOR ENROLMENT
lodging expenses will be reimbursed. No
experimental drug is administered during
the visit. The study comprises a physical
examination of the affected patients,
blood and urine tests, a questionnaire
The Montreal Children’s Hospital is the
concerning medical history, cardiac and
Canadian site for a multinational clinical
study of Morquio disease type A or Muco- respiratory function tests, and endurance
tests.
polysaccharidosis IV type A (MPS IVA)
sponsored by BioMarin Pharmaceutical
BioMarin has also conducted a Phase I/II
Inc. The Morquio A Clinical Assessment
study of an experimental enzyme replaceProgram (MorCAP) is designed to provide ment therapy for Morquio A and its Phase
a fuller understanding of MPS IVA synIII study has recently begun at three Cadrome in preparation of phase III clinical nadian centres. Please see our website
trials of a potential treatment.
for more details. More information can be
MorCAP clinical study for
Morquio syndrome type A
(MPS IV A)
Patients of all ages are eligible for the
MorCAP study. Participation will require
a visit of 2 or 3 days to the Montreal Children’s Hospital in Montreal. Travel and
found at www.morquiobmrn.com or at
www.clinicaltrials.gov.
Hospital or if you want more information,
contact GailOuellette, study coordinator,
at [email protected] or 819543-0550.
Si vous êtes intéressé à participer à
l’étude MorCAP à l’Hôpital de Montréal
pour enfants ou si voulez obtenir plus
d’information, contactez Gail Ouellette,
coordonnatrice de l’étude (courriel :
[email protected] ou
téléphone : 819-543-0550).
Une version française de ce communiqué
est disponible à www.mpssociety.ca.
If you are interested in participating in the
MorCAP study at the Montreal Children’s
how and how much medical therapy can conditions.
help to improve ocular outcomes over the
Patients from Quebec, diagnosed with
years.
any MPS or Fabry disease are invited to
Sponsored by Biomarin and Genzyme enter into this study. This involves an
Canada, this unique project aims also to annual visit to Dr. Michaud’s clinic at
Université de Montréal throughout the
raise awareness amongst eyecare
next five years. Results of exams will be
professionals about LSDs. With a better
Dr Langis Michaud, o.d. M.Sc. FAAO,
shared with treating physicians. There is
understanding of the diseases and of
associate professor at the École
no cost for the patient to cover the exam
their related ocular manifestations,
d’optométrie de l’Université de Montréal
is proud to announce the official launch of optometrists in the field will be better able fees but there is also no monetary
to screen and refer patients suspected of compensation to participate.
clinical activities related to a unique
having LSDs in a more timely manner.
project: a study on the long-term
Any person interested in more
evolution of ocular manifestations related
information about the study or to plan an
Started less than a year ago, this
to Fabry’s disease and other LSDs such
educational effort has already generated ocular exam can contact Dr. Michaud
as MPS I and VI.
directly at 514-343-6111 ext 8945 or
very good results: 3 new families with
email him at
This study will help gain understanding Fabry’s disease were identified and 12
[email protected].
patients were referred to a geneticist. At
about the evolution of ocular
this point, 3 of them have been
manifestations among this group of
immediately treated for their conditions
patients. Very little is known about how
ocular manifestations appear and evolve mainly due to major renal dysfunction
Une version française de ce communiqué
which was not diagnosed before. Others est disponible à www.mpssociety.ca.
among affected patients. This study will
will be closely monitored to follow their
also help gain better understanding of
Longitudinal study of ocular
manifestations of lysosomal
storage disorders (LSD) at
Université de Montréal, École
d’Optométrie
University of Minnesota Study:
Longitudinal Study of Bone Disease in MPS I, II, and VI
Dr. Lynda Polgreen, an endocrinologist at
the University of Minnesota, is conducting
a study on bone growth and bone health
in children with MPS I, II, and VI and is
recruiting subjects with MPS I (Hurler),
MPS I (Hurler/Scheie), and MPS II
(Hunter syndrome). She would ideally
like to recruit 3, 7, and 2 more subjects,
respectively, in these disease areas.
years. Travel support is available for
those interested in participating in this
study.
For more information, parents are welcome to contact Dr. Polgreen directly at
This study aims to characterize the
612-624-4469.
bone disease of children with MPS I, II,
and VI by measurements of bone architecture, density, strength and metabolism.
Study participants will be followed over 5
18
CLINICAL STUDIES OPEN FOR ENROLMENT
watch a video. We will be doing two procedures. One procedure is an MRI that
allows us to calculate the volume of various brain structures (volumetric MRI).
The other MRI procedure allows us to
Dear adult with or parent of a child with
visualize the structure in the connections
MPS I, II, or VI,
between one part of the brain and anWe are inviting individuals over the age 6 other (DTI – Diffusion Tensor Imaging).
of with MPS I, II or VI to participate in a
This study will be different than clinical
longitudinal research study seeking to
studies because we are using a more
better understand the brain basis for the powerful magnet called a 3 Tesla scanlearning difficulties sometimes found in
ner. Studies with a more powerful magMPS disorders. You or your child must be net are more sensitive to the details that
over the age of 6 and able to cooperate in we are investigating in this study and are
an MRI imaging study without any seda- just as safe as less powerful magnets.
tion. We are studying the central nervous We will also draw a small amount of
system so that we can better understand blood to measure new biomarkers that
the brain changes in MPS disorders to
are being developed by Dr. Clarke at the
find better ways of treating these probUniversity of British Columbia.
lems.
None of these tests are in any way
The participant will be seen for two
harmful. No embarrassing questions or
sessions in one day, one for neuropsysensitive stimuli will be used in the neurochological testing that will last about two
psychological testing. MRI scans do not
hours to three hours, and the other for
involve any radiation. There are no known
brain imaging which will last for one hour. risks associated with magnetic resonance
Neuropsychological tests will include a
scanning itself. We take care not to scan
brief test of cognitive ability and attention, people with some types of metal in their
and several tests of memory. Some of
bodies (from surgery or accident) and
this testing will be done on a computer.
people with pacemakers or programmaThis testing will be done in the Center for ble shunts should not enter a magnetic
Neurobehavioral Development at the Uni- resonance scanning facility. We will ask
versity of Minnesota. You will also come
you detailed questions about these risks
to the Center for Magnetic Resonance
to ensure that it is safe for the participant
Research. The participant will be placed
to enter the magnet. The blood draw has
on a table in the scanner. Imaging will
usual risks of bruising but it is only about
require lying still for about 30 to 35 minthe amount of two teaspoons.
utes. During this time the participant can
Air and ground transportation and hotel for one night will be provided to the
University of Minnesota, Minneapolis
campus, for two persons.
tions and their families. The purpose of
the study is to determine and document
Charting the Territory is a longitudinal
the clinical progression of the condition
descriptive, correlational study currently
and the associated bio-psychosocialunderway with children 0-19 years who
spiritual experiences of the parents and
are diagnosed with progressive neurologi- siblings age 7-18 years. Approximately
cal, metabolic, or chromosomal condi300 families, both newly diagnosed chil-
dren and those with established conditions, are being recruited in six Canadian
cities.
University of Minnesota Study:
Learning Difficulties in MPS I, II,
and VI
Charting the Territory
MPS III Natural History Studies
Shire Human Genetic Therapies, Inc. is
sponsoring a clinical trial to evaluate the
natural history of Sanfilippo syndrome
Type A (MPS IIIA). Please visit our website for more information about the study,
also called the Surrogate Endpoint Trial
(SET).
The Neurodevelopmental Function in
Rare Diorders (NFRD) Program at the
University of North Carolina at Chapel Hill
is conducting a MPS IIIC (Sanfilippo syn-
19
Please contact Kate Delaney at 612-6251143 ([email protected]) or Elsa
Shapiro at 612-625-1618
([email protected]) for more information. Thank you for reading this description.
Elsa Shapiro, Ph.D.
Principal Investigator
Professor of Pediatric and Neurology
University of Minnesota
******************************
Editor’s Note: The Hospital for Sick Children in Toronto is also a site for this study
with Dr. Julian Raiman acting as the Principal Investigator. Canadian patients are
welcome to participate in this study at the
Toronto site or, if more convenient, at the
Minneapolis, Minnesota or Portland, Oregon sites.
Please contact the Society for more
Information.
Contact Hal Siden at [email protected]
for more information.
drome Type C) natural history study.
Please contact Dr. Maria Escolar to enroll: 919-966-4465. More information
about this study can be found on our
website.
‘ONCE UPON A CURE’ GALA FOR MPS II RESEARCH
Gala last night. And the rest of the special they loitered until the end) are absolutely
fabulous. REALLY funny and smart.
guests were the same.
"Once Upon a Cure was almost indescribable. I've heard it said that planning
an event is like planning a wedding. It's
true. Especially when it's your wedding
and an event you are planning to raise
money to cure your child's progressive
disease. It is overwhelming and frustrating, nerve wracking and exciting- there's
a lot of emotion wrapped up in it, which is
an understatement.
Below is a blog I wrote for our onceuponacure.com website, the day after the
gala, to the hundreds of fans we've acquired over the past year. I hope you enjoy."
Amanda Tapping came dress shopping
with me, then came over the next day to
drop off jewelry to go with the dress she
helped me pick out. This after doing numerous interviews on our behalf to
spread awareness about the gala and
MPS II Hunter Syndrome and while she is
busy with PR for the new
season of Sanctuary about
to start up. In addition to
having a partner (who I’d
like to get to know better
one day, what a wonderful
man) and child and
‘regular’ life stuff.
Jensen Ackles’ wife, Danneel, from One Tree Hill,
followed me around so I
could introduce her to my
sister, who is a fan, and
was honestly good with
doing that (how many actors would do that?)
Christopher Heyerdahl gave me the best
bear hug, in addition to donating to our
online auction, which raised over
$20,000. One half of a research grant.
Ryan Robbins, with his girlfriend Karyn
Baltzer, tweeted and re-tweeted about
our gala leading up to the event and donated to our online auction and showed up to
the event looking amazing. They are becoming
friends, they have done
so much and gotten so
involved in our cause
(they’ve always been
friends of Ryan’s, I just
never met him until a few
months ago).
Julia & Peter Benson
came and I know they
have our backs for good.
Touches my heart. I also
met Christine Chatelain,
Jen Spence & Paul
McGillion for the first
time, which was very
cool.
Ginny Goodwin and Josh
Dallas just wanted to know:
It’s time to blog. Reading Jared Padal“When do we get to meet
ecki’s tweet from last night got the emoTrey?” Bring him to set for
tions rolling this afternoon (“Had an
lunch, they said! Lana
The fabulous Cupcakes
amazing experience tonight with onceRobin Dunne, after all
Parrilla came over to our
uponacure.com. Thank u to the Purcell’s
the talk, did not take his
table to say hi to Ryan and introduce herfor their incredible bravery & honesty. I
pants
off.
But
he
did look darned good
self and Jared Gilmore to me. What a
feel blessed.”). This is a guy I’ve never
with
them
on.
thoughtful and kind act. Robert Carlyle
met before last night, who has thousands
showed up even though he’s an incrediNever got to meet Jennifer Morrison, but
or millions of fans from his show Superbly private person.
saw her across the room. Also never got
natural, who gets God knows how many
to say thank you to Damian Kindler, crearequests for appearances, but who still
Edward Kitsis, writer and producer from
tor of Sanctuary, for coming.
showed up for our Once Upon a Cure
Lost and executive producer from Once
Upon a Time, dropped (among other
One of our volunteers, who has also volthings) $1000 for a one day pass for
unteered at conventions, commented that
two people to the Vancouver Aquarthis gala was relaxed. Formal in what you
ium (valued at $62).
had to wear, but Jensen and Jared wereExecutive producer from Once Upon a n’t surrounded by 6 security guards and
Amanda, Robin & Ryan weren’t sitting at
Time, Steve Pearlman, and his awesome wife Debby, are responsible for a head table twenty feet away. There
wasn’t a line up to get a picture or autofinding our Once Upon a Cure Gala
graph. It was a small and intimate space.
and getting Once Upon a Time involved. Debby also flew up from Cali- People got to hang out and mingle. The
whole thing was honestly surreal. That
fornia to attend the gala with Steve.
this many people who get this many rePeter & Anne Marie DeLuise (who we quests, all showed up at our Gala, was
got to spend lots of time with because nothing short of awesome.
The Red Queen and the Mad Hatter
20
to the depths of our bodies and souls for
all your support. It is you who are helping
us find a cure for MPS II Hunter Syndrome. It is going to happen. A cure. DurThank you to everyone who came and
ing Trey's lifetime. Believe it. It is you
sponsored, volunteered, donated, bid, got who gives us hope. Thank you. I don’t
involved. We raised just under $75,000.
know what we’d do without you.
Because of that, our MPS II Research
Simon Ibell and Will Blunderfield inspired. Fund will be able to fund a $100,000 reDeb Purcell
Dirty Radio rocked the house. DJ CWikii search grant this coming year. Brings
kept the party going. The Cupcakes were tears to my eyes. Ryan and I are grateful
And that’s not to take away from all the
family and friends, old and new guests
who came. Kid Carson & Amy Beemanwere hilarious and entertaining, as always. Dr. Paul Moxham made us laugh
even though he was talking about a rare
& progressive disease that affects kids.
beautiful and FABULOUS. The Mad Hatter, Alice, Red Queen & contortionist
were astonishing.
Thank You ‘Once Upon a Cure’ Donors!
Alastair Bird Photography
AnneMarie Felser
All Axis Systems Inc.
Robert Finnigan
Judith & James Anderson
Greg Fox
AWM Productions
G.F.H. Enterprises Ltd.
Lawren Bancroft-Wilson
William Gibson
Maria Barreto
Kathy Gilroy
Ivan Bartok
Dave Griffiths
Linnae Bee
Braden Haggerty
Antje Boehm
Highwater Tackle Ltd
Dawn Bourn
Salim Hirji
Mark & Shirley Brunke
Janet Horner
Jennifer Lo
Pauline Campbell
Gillian Horvath
Long & McQuade Musical Instruments
Canada West Productions Ltd.
Robert & Barbara Hufsmith
Milton Loo
Kid Carson
Paul & Lisa Humer
Lugaro Jewellers
Michelle Castillo
Italian Sporting Goods
Duncan MacDonald
Sue & Ady Cech
Jemac Productions Inc.
Amara MacLeod
Undefined
Dana Johl
David Magee
Ian & Peter Cicansky
Nancy & David Johnson
Carol Marks-George
Corrie Clark
Ken Kabatoff
Stephanie Mascoe
Meagan Corbett
Robyn Kancs
Mavel Sanu
Diane Culin
Mike & Sharon King
Judy May
Dano Consulting Ltd.
Edward Kitsis
Richard McSweeney
Peter & AnneMarie DeLuise
Harvey LaRocque
Angelique Mialon
Michael Diebolt
Ledingham Design Consultants
John & Lynda Noble
Krystal Dorsey
Jill & Gary Ley
Krystal O'Byrne
Anthony Epp
Sarah Little
Abigail Odland
Deb and Ryan Purcell
21
Kent Ogilvie
Liz & Klaus Reiniger
Mike Osbourn
Mark Richards
Gurjit Parmar
Marla Robinson
Pawsabilities Holdings Corporation
Jamie Ross
Steve & Debby Pearlman
Jen Rothfelder
Pemberton Insurance Corporation
Grizz Salzl
Craig Powell
Edna Sandberg
Halley & Don Prestage
Amelia Sandhu
Dan & Tina Priest
John & Marlene Schreiner
Ryan & Deb Purcell
Mark Seaton
Thomas Ramsauer
Jennifer Shark
Dr. Paul Moxham shows off his purchase
Simon Ibell (MPS II) & Deb Purcell lead the auction
Helga Ungurait
Susanna Smith
William & Sharon Van Dijk
Courtenay Spencer
Victorian Epicure Inc.
Audrey Spielmann
Vincor International Inc.
Rene Spielmann
Carol Wagner
Simon Stanlake
Oliver Webbe
Steedcycles
Mel Weisbaum
Krista Stumph
Elizabeth Werner
Cheryl Swan
Joe & Kristine Whitney
Dorothy Symons
Eva Winship
The Sonja Picard Collection
Martin & Dianne Wood
Laura Ramsden
Gillian Thody
Dustan Woodhouse
Nadine Ramsden
Graham & Elaine Thody
Kelly & Chris Zimmer
Laura Reid
Kristine Thody
John Zulinski
Thank you ‘Once Upon a Cure’ Supporters and Volunteers!
Jennifer Abbott
Will Blunderfield
Michelle Cehak
AWV TELAV
Jeffrey Bowyer-Chapman
Jack Cehak
Eric Ballinger
Alyssa Brownsmith
Ilse Cehak
Heidi Barker
Donna Brownsmith
Christine Chatelain
The Beat 94.5
Kelly Brunner
Janine Coney
Amy Beeman
Carats Jewellers
Anjonette Copon
Peter Benson
Robert Carlyle
Cupcakes
Julia Benson
Kid Carson
Josh Dallas
Blanche MacDonald
Heather Cehak
Darwin Construction
22
Peter DeLuise
Sean Koo
Grizz Salzl
Anne Marie DeLuise
Kathy Kreiner
Brooke Salzl
DirtyRadio
Krista Lawley
Clara Shandler
DJ Cwikii
Robert Lawrenson
Shire – Human Genetic Therapies
Elyse Levesque
The Sutton Place Hotel
Jill Ley
Jen Spence
Lydia Lin
Jewel Staite
Jennifer Lo
Katie Stevens
Lucky Aerial & Performance
Art
Alyssa Steveson
Joanna Lynch-Lawrenson
M.A.C. Cosmetics
Karen Margolese
Graham Masters
Robin Dunne and Amanda Tapping
Robin Dunne
Madeleine Funk
Jared Gilmore
Ginnifer Goodwin
Greenscapes
Val Halverson
Kirsten Harkins
David Hewlett
Christopher Heyerdahl
Sasha Houston
Joey Howell
Simon Ibell
Stephanie Ip
Megan Karkness
Tony Kastelic
Peter Kelamis
Tarun Keram
Mariella Koc-Spadaro
Paul McGillion
Shannen McGreevy
Molson/Coors
Clayton Tait
Amanda Tapping
Sharon Taylor
Ayasha Valji
Savanna Van Der Zwan
The WestEnder
Isis Wright
Will Wu
Dr. Paul Moxham
Justine Yu
Maureen O'Brien
Yyoga (Chloe & Nico Luce)
Lisa Odland
Once Upon A Time Production
OOXX invitations
PacBlue
Printing
Tovah
Paglaro
Lana Parrilla
Sona
Payvandi
Alysha
Radvak
Nadine
Ramsden
Ryan
Robbins
Jen
Rothfelder
The cast of ‘Once Upon a Time’
Joy Roxas
23
‘EVENING IN ITALY’ GALA FOR MPS IV B RESEARCH
“Finché c'è vita
c'è speranza”
“As long as there
is life, there is
hope” I was born Cristina
Maria Boeri. A
first generation
Canadian to a couple who immigrated to Canada from opposite ends of Italy. Both were very
young adults, on their own journeys with
hope to find a life that would be their new
beginning after years of war and poverty.
tell jokes; often ones that he’s made up.
He plays the air guitar and sings, “I love
love love yah mommy” in his rock star
voice. He’s curious, determined, and
smart. He makes me laugh, and he drives
me crazy! In my eyes, he’s perfect.
My son Stephen has MPS type IV B, or
Morquio B syndrome. It is a genetic disorder that has a name, requires numerous precautions for everyday living, and
over time will usually create some horrible
medical complications. Yet ask any doctor you know if they’ve heard of Morquio
B. The answer you will most likely get is
no. Ask any lay person you meet if they
My parents met, and were married in BC. have heard of Morquio B. I can guaranThey started with nothing, and together
tee you that the answer you will get is no.
faced their own challenges: establishing
themselves in a new
country where they
didn’t speak the language, finding jobs
and a home, and stepping up to the responsibility and sacrifice of
looking after their families.
I have had the opportunity to experience
two entirely different
styles of Italian living.
Although Italy is not
very large, life in the
north, and life in the
south differs significantly. One thing that
is consistent though, is the great emphasis on family and friendship, loyalty to one
another, and the genuine enjoyment of
life.
As a parent, it’s the mystery of this disorder that I’m told my son has that terrifies
me more than the disorder itself. I live in
fear every day of what I know will happen
to my son, I live in fear every day of what
It’s these learned values, and these com- I have been told might happen to my son,
forting memories, that are my inspiration but most of all I live in fear every day of
for the theme tonight. An Evening in Italy the unknown.
reminds me that everyone has a journey
I’m often told that I worry too much.
to make in life, and if we can find the
“Stephen looks fine. He’s doing well.”
comfort of true friendship and close family
ties, we will find the strength to overcome This, I am finding, is one of the greatest
the challenges we must face, and face
challenges with a condition that does not
them head on with all of the strength that prove itself visually - until it’s too late.
we have.
Stephen looks like a regular kid with a
I have one child named Stephen. He’s
few physical differences. I must be over
seven. In my eyes, he’s perfect. He has reacting. The problem is, I’ve seen
a smile that lights up a room. He loves to Stephen’s x-rays, and the ultrasound pic-
24
tures of his heart. I’ve had to watch him
endure tests for his hearing, his vision,
his sleep pattern and his nervous system.
I’ve had to learn in disbelief how his body
and his organs could change as he
grows. And I’ve had to smile and say, “I’ll
see you soon” to him before he had his
first operation, knowing that because of
complications from Morquio Syndrome,
he may not wake up.
To me, the differences I see on the outside are a constant reminder of what
could be happening on the inside. To
me, it is like a time bomb that could go off
at any moment.
Because this disorder manifests itself in
various ways, the future is a mystery; one
that unravels itself with each new doctor’s
appointment, and follow-up test. A mystery that, without a treatment, will haunt
me forever. Stephen is fine today, but
without treatment, the reality is that tomorrow he won’t be getting better.
What we do know though, is that there is
a window of time, his growing years,
where much of the damage that will occur
to his body will begin to take place, and
where treatment will be most beneficial.
We are racing against time to make sure
that when a treatment does become
available, Stephen will be able to benefit
from it.
It is for all of these reasons that Dan and I
have taken it upon ourselves to raise
funds for research, and equally importantly, raise awareness for Morquio B
Syndrome.
I will admit to you that since I first heard
the words Morquio Syndrome associated
with my son I began to pray, every day,
for a miracle. I begged God to help me
find a way to demystify this condition and
make myself useful to those with it.
Somehow I needed to see with my own
eyes what the future holds for my son, not
just hear possible scenarios of what might
happen to him.
This weekend I received my miracle. Dan
and I have come in contact with a handful
of people with Morquio B through our
website; all affected by the condition in
We are, however, a very small piece of a
very large pie. It is thought that MPS, or
Mucopolysaccharidosis as a whole affects 1 in 25,000 children in the world.
There are several types of MPS disorders
which require their own specific treatments. Approved treatments are available
Arthur Cabral flew to Vancouver from
for MPS Type I, Type II, Type VI and now
California bringing with him, his girlfriend, MPS Type IV A is in clinical trials. All of
and his parents to be here this weekend these treatments have proven to be effecand to meet Stephen. Stephen’s retive in slowing the progression of these
sponse to this news was, “Finally, some- various types of MPS.
one like me.”
Research for the first enzyme replaceI showed Stephen a picture of Arthur and ment therapy was funded by Mark Dant,
he pointed to the physical similarities they the determined father of a little boy who
share. He said, “Look mom, he looks like was diagnosed with MPS Type I. He beme.”
gan his fundraising efforts with a bake
sale that netted just over $300. He conArthur and his family are here tonight to
tinued to move forward focused on his
make us feel like we are not alone as
they have felt for years, and for this, Dan goal, raised over a million dollars, and
soon after his dream of a replacement
and I will be forever grateful.
therapy became a reality.
We have created a donor advised fund
Mark Dant saved his son’s life.
within the Canadian MPS Society, and
we’re doing our best to spark more
Tonight, I ask you to consider supporting
interest in research for a treatment for
us in our fight against MPS Type IV B, or
Morquio B. Every dollar that we raise
Morquio B Syndrome.
goes towards this research.
More and more rare conditions are being
discovered and treated, but there is not
enough funding to support research for all
of them.
very different ways. But one person we
met is here tonight. We began a somewhat cautious exchange of information
just over a year ago, and in a short while,
I began to feel like we have known each
other forever.
Many of tonight’s generous auction donations were made by people I’ve approached through various businesses
who told me a story of how they could
relate to my efforts because their family is
affected by rare disease.
Dr. Lorne Clarke, the Medical Advisory
Board Chair of the Canadian MPS Society, said that approximately 85% of children in BC Children’s Hospital are there
with some sort of rare condition.
Tina & Dan Priest, Kirsten Harkins,
Laura Guerrero, Arthur Cabral,
Dr. Sylvia Stockler,
Hans Hamberger & Jenifer Gentle
much
older; or
may not
affect us
at all, but
may affect our
children
or even
our
grandchildren.
Dr. Sylvia
Arthur Cabral, 33 year old
Stockler
adult
living with Morquio B
said to me
one day,
“I look at people as I pass them in the
street and sometimes I wonder, what condition could they be carrying that they
don’t know they have yet?”
I think about that statement often.
Supporting research for Morquio B is
more than supporting treatment for this
condition alone. It’s about supporting
research that may cross over into conditions as common as osteoporosis or arthritis.
In closing, I’d like to tell you a story. A
story about why I believe that Dan and I
were chosen to lead this fundraising effort.
We were told that Stephen had Morquio B
in May of 2009. He was to start kindergarten in September of that year. We
were also told by several doctors that his
condition is very rare and we would never
come across anyone like him.
Stephen started school and immediately
made a friendship with a little girl named
Amie. Two weeks after school began, a
notice came home for a family barbeque
open house. I was still fighting depresIt is thought that 1 in 10 people is affected sion and not ready to tell anyone about
by a rare condition. In fact, we all carry 7- Stephen’s condition. I didn’t want to go to
10 recessive genes. There are over 200 the barbeque, but Dan convinced me that
of us here tonight.
it would be good for Stephen, so we went.
That doesn’t make rare very rare any
Shortly after we arrived, Stephen saw
more does it?
Amie and began talking to her. Her parSome of us here could be carrying a rare ents introduced themselves as Darren
condition that won’t affect us until we are and Leanne. Dan and Darren discovered
25
I almost fell over. It honestly felt
as if I had been hit by a bus. I
wasn’t sure if I had heard her
correctly, but I could feel the
color drain out of my face.
My immediate response was,
“No.”
She continued with, “That’s
funny because Darren’s cousin
has two children with Morquio
Syndrome and they sort of resemble Stephen.”
Once again I blurted out, “What
type A or B?” So much for my
lie about not knowing what
Morquio Syndrome was.
Capilano University students with Andrew Knight
that they had both worked for London
Drugs for several years and had never
met. Leanne and I took the kids to the
school field to play while our husbands
talked.
tunity to meet him. He was 18 years old.
Corri called me shortly after Damien died
and told me that the family had decided to
have all donations made to the Canadian
MPS Society in his name designated to
our fund for Morquio B research. I was
speechless. She simply said, “Don’t
worry, we’ll get there.”
These experiences have proven to me
that Dan and I are headed in the right
direction. Someone is leading us to
where we need to be.
Oddly enough, this new life we have had
to face has turned me into the person I
She continued to tell me about
these great kids who live in Delta,
and what a wonderful family they
Stephen and Amie ran around the field. It have. Honestly, I can’t remember
much after that because I couldn’t
was obvious that Stephen couldn’t keep
up and I was trying to think up excuses to stop thinking about what the docbe prepared when Leanne would ask me tors had told me. Had I just entered the Twilight Zone? Was this
what was wrong with him.
an amazing coincidence? Or
Finally, the kids came running back to us. were the doctors just wrong? I
Stephen was far behind and struggling. I don’t know, but I can tell you one
Dr. Sylvia Stockler
quickly blurted out, “Stephen has trouble thing. That day turned out to be
with his bones so he can’t run very well.
more than just a barbeque to our family.
have always wanted to be. I am a human
We’re actually in the process of taking
That day was a giant first step in our fambeing who can feel empathy for others, is
him to the doctor for it.” And I waited, in
ily’s journey.
less likely to judge, and is more likely to
fear, for Leanne’s response.
listen and understand.
Today, Stephen and Amie are best
To my surprise, Leanne calmly asked,
friends. Leanne and Darren have bePlease join us in our journey and consider
“You know...have you heard of Morquio
come very close friends of ours, and
donating to the future of people living with
Syndrome?”
we’ve had the opportunity to meet DarMorquio B. Please consider talking to
ren’s cousin Corri. She spent
others about what you’ve learned tonight.
an evening at our house trying
Who knows what incredible discoveries
to help us understand what we
may come of just talking about this condiare facing. She brought family
tion?
photos, and told us wonderful
stories, and was able to con“Finché c'è vita c'è speranza” “As
vince us that they do have a
long as there is life, there is hope” wonderful life despite the chalEveryone has a journey. Thank you for
lenges that they face having
spending an evening travelling with us on
two children with Morquio A
ours.
Syndrome. She told us that
they are thankful for every day
that they’re given.
Dan and Tina Priest
MPS IV B Donor Advised Fund
Corri and her family lost their
son Damien to Morquio A this www.morquiob.com
year. We never had the opporCapilano University students with Dave Stafford
26
Thank you ‘Evening in Italy’ Donors!
Glad Rycroft
Gary Baanders
Lauren Craze
Betty Done
Susan & Gerry Mezzarobba
Keith & Lauri Poulin
Don Gerevas
Gordon & Rita Thomas
David & Kirsten Yurkovich
Darren & Leanne Bernaerdt
Jamie Sivecki
Dwight & Karen Epp
Happy Scissors
John & Sharon Thomas
Marni Fraser
Preceptor Alpha XI
Judith Isaacson
Randall Walrond
Nazline Karmali
Mark & Kim Ramsey
Tom Gigliotti
Dr. Suseela Reddy
Vana Kirby
Dwight & Karen Epp
Vic & Marnie Trapasso
Carmelo & Mirella Boeri
Victoria Gavilov
David Stafford
Linda Smith
Linda Smith
Maria Medic
Terrance & Jackie Sawasy
Melanie Bridle
Anuradha Reddy
MIchael Go Chua
Dina Chies
Solarno Ong
Bruce Hawley
Guests view fabulous auction items
Stephen & Lisa Ross
Stephen & Anne Meyer
Darlene Thom
Elliott & Kathie Clarkson
Jessica Chen
Kelly & Jamie Kusch
Marty & Doris McKinney
Lisa & Vaughn Marshall
Renee Martin
Rufina Chang
Gary & Jill Ley
Jenifer Gentle & Hans Hamberger
Anuradha Reddy
Linda Yorke
Alexander Thomas
Linda Bentley
Sheila McFarland
Stephen & Anne Meyer
Patricia Martin
Ted's
Brent Brownmiller
Peter & Vivienne Lowenstein
Daphne Tsai
Carlie Painter
Mike & Vanessa Hilton
Todd & Kirsten Harkins
David Robertson
Robert & Yvonne Newmarch
Howard & Eileen Bennett
Cari & Derek Stadel
Rosalyn Manthorpe
Tom & Phyllis Williams
Elio D'Odorico
Sean Nieuwenhuis
Chris D'Odorico
Paul & Erin Rozman
Grant & Donna Smith
John & Johanna Inglis
Gunther & Ingrid Genz
Mark & Carly Spence
Norm Williams
Ian & Anne Pritchard
Triance Capital Inc.
Kelly & Jamie Kusch
Ian & Julie Thomas
Two Pillars Construction Ltd.
Colin Haskins
Ivan Priest
Northern Building Supply Ltd.
David Stafford
Kirsten Wallace
Cheryl & Falco Rhem
Lana Chan
27
TORONTO SCOTIABANK WATERFRONT MARATHON
Thank you to:
Fundraising Committee:
Erika Babins
Evening in Italy Sponsors:
Darren & Leanne Bernaerdt
Gillian Barber
Northern Building Supply Ltd
Dina Chies
Kevin Michael Cripps
URP Event Production & Creative Services
Janet Gigliotti
Richard Berg
Shelley Stewart Hunt
Craig Alfredson
Lisa Marshall
Collette Brown
Kim & Mark Ramsey
The Capilano University Third Year
Musical Theatre Students
Invis – Team Rob Regan-Pollock
Data Group of Companies
The Richmond Review
Darren Bernaerdt Photography
Melissa Thomas
Sensory Overload Productions
Performers, Choreographers,
Technical support, and Volunteers:
Flower Expressions
Tracy Neff
Jack and Jill Weddings
Caitlin Hayes
Corporate Gold Donor
Anna Kuman
London Drugs
Keri Minty
Our deepest gratitude to The Canadian
MPS Society, Dr. Sylvia Stockler, and
everyone who has donated to The MPS
IV B Donor Advised Fund. Together, we
will find a treatment.
Dan and Tina Priest
TEAM NO ‘MORE’ MPS HITS THE STREET OF TORONTO
each one of them doing their own excellent job of fundraising. Finally I said
‘enough’ playing around and set our goal
at $10,000. I thought myself I was going
crazy, but the support and encouragement we had been receiving thus far told
me that it could be done. And could it
ever. As of race day, we had surmounted
more than $12,000 in pledges for Jasper
and for the MPS Society. A feat that I
never would have dreamed possible.
My brother-in-law told me though, part
way through the campaign, “if you give
people a good cause, they will support it.”
Aside from all the money raised, which is
fantastic, I would do this event again without blinking an eye or even giving it a
second thought. It was almost therapeutic
ily as well as some extended family and
What an amazing experience this event
in a way, sharing our emotions and our
some close friends. When I first regiswas for myself and for my family as a
purpose with more than 22,000 other partered back in August, I set our team fund- ticipants.
whole. I was simply awestruck and very
raising goal at $500. I HATE asking peohumbled at the same time. Seeing all of
I hope to meet and see more people
ple for money. But as we got started, I
the different people there, each walking
and raising money for their own individual soon realized that $500 was not enough. touched by MPS at next years walk.
So I raised it to $600, then $1000, then
reason, purpose and or charity.
Sincerely,
$2500. People kept on donating and our Darren, Pam, Daphnie, Clayton and
Personally, our team “No ‘MORE’ MPS”
team of participants kept on growing,
Jasper More.
was comprised of mostly immediate fam-
28
TORONTO SCOTIABANK WATERFRONT MARATHON
Thank you Team ‘No MORE MPS’ Donors!
Beth-Anne Rumph
Ron Rody
Bev May
Rosemary Godin
Clark & Barb McAlpine
Scott Walls
Cliff & Annie Campbell
Sharon Welsh-MacDougall
Dan Sinclair
Shirley Cosens
Darlene Loos
Shirley Hammond
Dave Jagger
Theresa Cochrane
Ellen Thomson
Jeremy Culling
Elli Pederson
Joan Reibeling
Erla Dickson
Joe & Jenny Heanen
Adelle Gibbing
Florence Stanners
John Simpson
Ann Oosterveld
Frank Lobsinger
Katie & Don Wood
Brad Craven
Nancy Dunbar
Brian & Sherri DeByer
Nancy Ellis
Bruce Shantz
Nancy Young
Bruce Turton
Paul & Laura Craven
Christy Foster
Pearl Elliott
Elizabeth & Dennis Craven
Reg Walls
Derrick Givens
Renee Beswitherick
Donna Mick
Rick & Joan Fisk
Doreen Welsh
Rick Boyd
Jasper More (MPS VI) and Quinn
Jasper with brother Clayton
Doris Palmer
Bob & Cindy Skinner
Marion Ash
Doug Davie
Ross & Elaine Beattie
Gloria Bird
Edith & Grant Schiek
Roy Weaver
Greg Mallet
Edith Bustin
Sandy Vallance
Greg Morphy
Fraser & Lois Donaldson
Sarah & Geoff Gunson
Jean Borth
Gary & Penny Ternent
Scott Norman
Kay Bounsall
Ginny Franklin
Todd Norman
Kent & Kerry Doig
Glenn & Dorothy Dickson
Tom Wood
Liz DeByer
Marlene Heida
Darren & Pamela More
Lloyd & Doris Gonder
Audrey Cummings
Rodger & Judy Shulist
Lynda Duncliffe
Ben Blackwell
Ron & Gillian Browne
Edge Automotive
Ben Dobben
Members of ‘Billie’s Team’
Ron Ellis
29
FUDRAISING
GREAT LAKE WALK
Great Lake Walk Donors:
Brooke & Wilma Hodson
Lake Cowichan, BC
Floyd Augustine
Another 56km walk/run around our beautiful lake became part of the 10th anniversary celebrations. This year there were
333 registered participants from various
places near and far away with 280 walkers crossing the finish line throughout the
day. Once again we were blessed with
sunny skies. Young, old and in between
were challenged. Oldest males to finish
were 75, oldest females were 82 &75,
youngest male 12 & youngest female 16.
Our faithful walker Brooke Hodson has,
over the past 10 years, walked a total of
560 km raising a total of $6,336 for the
Canadian MPS Society. This year he
completed the walk in 8 hours 32 minutes, crossing the finish line in 52nd place
(none the worse for wear!). 10 year pins
were presented to 10 participants who
had participated in the Great Lake Walk
every year. Congratulations to Brooke
who was one of the recipients! We thank
Lloyd Blackburn
Val Calleberg
Ken & Helga Irving
Harold Hanson
Gail Webster
Carol Laforge
Dick Nimmo
Brent Malcolm
Yvonne Nimmo
him for his persistence and for his enthusiastic continued support for MPS and to
everyone who participated and pledged.
Yvonne Nimmo (Grandmother of
Nicklas Harkins - MPS I H/S)
Arlene Feke
Todd & Kirsten Harkins
Rod Nimmo
Lorraine Lawrence
REQUEST FOR
APPLICATIONS
THE CANADIAN MPS SOCIETY IS
REQUESTING APPLICATIONS FOR ITS
2012 RESEARCH GRANTS:
Congratulations to the Sanfilippo Children’s Research
Foundation for placing 3rd in the category of “most
raised per participant” in the Scotiabank Toronto Waterfront Marathon. SCRF received $2,000 for their team’s
accomplishment! MPS was well represented this year!

2012-1: Research into MPS Disease
(any type of MPS)

2012-2: Research into MPS II

2012-3: Research into MPS IV B
Application forms and guidelines can be
downloaded from our website:
www.mpssociety.ca.
30
EDUCATION & AWARENESS
PRIZES: Two Grand Prizes will be awarded in each age
group: Children 5-11: $100 Visa Gift Card; Teens 12-17: $250
Visa Gift Card; Adults 18+$500: Visa Gift Card
Calling all artists, kids, parents, friends & family! Share
your art that captures the beauty, power, love, pain and
courage of the rare disease community.
Words from a past winner:
Each Grand Prize winner will also receive an iPod Touch.
Winners can use the i Pod touch to record a video and share
their story about being an artist affected by a rare disease.
The artists’ video stories will be posted on www.RareArtist.org.
CONTEST RULES & HOW TO ENTER: Please visit:
www.rareartist.org/main/contest_rule.
DEADLINE: Entries must be received by 5 pm PST on
“ This is so much more than just a simple contest to me; this is Tuesday, January 31, 2012.
about being a part of something enormous and beautiful in
people's lives. This stands to show people who are hurting and QUESTIONS: Please contact [email protected] or (415) 8840223
ill, that greatness can still be achieved, no matter how ill you
become.”
BE A FAN OF THE CANADIAN MPS SOCIETY
ON FACEBOOK!
The Society now has a facebook page and we would love to increase
our fan base! Please “like” us so that you can keep up to date on
Society news and events and add your own posts to keep in touch!
COURAGE TO MAKE A DIFFERENCE.
Christopher Dutcher was diagnosed with MPS II when he was six years old. He is now in his
twenties and has an MBA in marketing and management. Chris is trying to raise enough money to
fund a road trip across the US and parts of Canada by the spring of 2012. The trip will take him to
different families across the continent that have been affected by MPS disorders. Along the way
he will raise awareness by talking to media about the reasons for the trip. If you’d like to contact
Chris to find out if he’ll be visiting your area (for now, he plans to visit Vancouver, but will finalize
his travel route once he’s heard from families willing to take him in during his travels), email him at
[email protected]. We’ll be updating our members as Chris’s journey progresses - good luck, Chris!
$$ Do you know about the Canadian MPS Society’s Family Assistance Program? $$
Grants of up to $1,500.00 are available to individuals or families affected by MPS or a related disease, and can
be used for respite or for emergency or non-emergency costs associated with care and management. View our
FAP guidelines & download an application form at www.mpssociety.ca under “support” or submit the form on
page 34 of the Connection. Please call with any questions—we’re here to help!
31
PUBLICATION LIST & MERCHANDISE
BOOKLETS & VIDEOS
# OF COPIES
PRICE PER COPY
Family Resource Book - English or French*
4.00
Daily Living with MPS and Related Diseases
2.00
MPS I (Hurler/Scheie Diseases) - English or French *
2.00
MPS II (Hunter Syndrome)
2.00
MPS III (Sanfilippo Syndrome)
2.00
MPS IV (Morquio Syndrome)
2.00
MPS VI (Maroteaux-Lamy Syndrome)
1.00
Mucolipidosis II (I-Cell Disease) and III
1.00
Fucosidosis
1.00
Mannosidosis
1.00
Aspartylglucosaminuria
1.00
Mucolipidosis IV
1.00
Multiple Sulfphatase Deficiency
1.00
Tay-sachs & Sandhoff Disease
1.00
Hearing impairment in MPS Children
1.00
Is your child Having an Anaesthetic?
1.00
Bone Marrow Transplants in MPS Children
1.00
The Pattern of Inheritance
4.00
Choices – When your child is Dying - English or French*
7.00
Video—A Roll of the Dice
CANADIAN MPS SOCIETY LOGO WEAR
TOTAL PRICE
10.00
Sweatshirts (indigo blue with embroidered logo; unisex)
30.00
Total Booklets * all booklets are
in English, except those noted
with an *. Please circle language.
Jean Shirts (denim with embroidered logo; unisex)
30.00
Total Logo Wear
$
Golf Shirts (navy blue; indicate M or W)
40.00
Total Awareness Bracelets
$
Adult T-shirts (royal blue; indicate M or W)
25.00
15.00
Expression of Hope Greeting
Cards ( ____ boxes x $25.00)
$
Children’s T-shirts (royal blue)
TOTAL ENCLOSED
$
Awareness Bracelets (royal blue; S, M, L)
PRICE
S
M
2.00
L
XL
XXL
$
ALL PRICES INCLUDE SHIPPING & HANDLING. Please submit this form with payment or order online at
www.mpssociety.ca - click on “store” to place your order.
Name: _________________________________________________________________ Telephone: ( _____) _____-________
Address: ______________________________________________________________________________________________
City:___________________________________________________ Province _______________ Postal Code: _____________
□ Cheque enclosed or □ Charge my Credit Card #_______________________ Exp:__/__ Signature: _____________________
32
CANADIAN MPS SOCIETY MEMBERSHIP FORM
First/Last Names: _________________________________________________________________________________
Address: _______________________________________________________________________________________
City: __________________________________ Province: _________________ Postal Code: __________________
Telephone: ________________________________ E-mail: ______________________________________________
AFFECTED CHILD’S NAME(S) AND
SIBLINGS’ NAMES
DATE OF BIRTH MEMORIAL DATE
SEX
DIAGNOSIS/
MPS DISORDER
Affected Family:
______$30.00
Enclosed membership payment: $ ________
Relative/Professional/Other:
______$40.00
Enclosed donation:
$ ________
Out of Country:
______$50.00
Total:
$ ________
Would you like your name to appear in our Family Referral Directory (Membership Directory)?
Yes ______ No ______ Initial consent:__________
Would you like to have your affected child’s name appear on the Birthday/Memorial page? Yes ______ No ______
If so, please fill in all information in the above chart, as you would like it to appear.
I am willing to allow the Society to publish pictures of my living/deceased child(ren) on its posters, advertising,
booklets, brochures and the MPS website. Yes ______ No ______
(Please mail/email clear photos. We will return photos if requested.)
Signed:______________________________________________ Date:_____________________
IF YOU HAVE AN AFFECTED CHILD AND CANNOT AFFORD THE $30.00 MEMBERSHIP FEE, PLEASE INFORM THE OFFICE AND WE WILL WAIVE YOUR FEES.
Due to the increased costs associated with printing our newsletters (and the corresponding increased “benefit”
to our members) we can no longer issue income tax receipts for membership payments. Please visit
www.cra.gc.ca/charities for information on receipting policies.
The Canadian MPS Society is committed to providing support to
families affected with MPS and related diseases, educating medical professionals and the general public about MPS, and funding
research so that one day cures will be found for all types of MPS
and related diseases. Members will receive:
 Four newsletters per year (Spring, Summer, Fall, Winter)
 Our Family Referral Directory
 Our Annual Report
 Access to our Family Assistance Program (Canadian residents only)
 Advocacy support
 All new publications printed by the Society
 Invitations to family meetings and conferences and reduced fees
Please make cheques payable to:
THE CANADIAN MPS SOCIETY
Please charge my credit card in the amount of $___________
Credit Card #_______________________________________
Name on card ______________________________________
Expiry Date__________Signature_______________________
Registered Charity # 12903 0409 RR0001
33
FAMILY ASSISTANCE PROGRAM
FAMILY ASSISTANCE PROGRAM
FUNDING APPLICATION
Date:_________________
Name:________________________________________________________________________________________________
Address:______________________________________________________________________________________________
_____________________________________________________________________________________________________
Phone: ___________________________________ Email: _____________________________________________________
Name(s) of affected child(ren):____________________________________________________________________________
Amount of funding requested: ______________ (Maximum of $1,500.00)
Please describe what the funds will be used for: ____________________________________________________________
_____________________________________________________________________________________________________
_____________________________________________________________________________________________________
_____________________________________________________________________________________________________
Will the funds being requested be used to pay for part of a larger project or piece of equipment?
(eg. home renovations, wheelchair-accessible van, etc.)
Yes________No_________
If you answered yes to the previous question:
What is the estimated total cost of the project/equipment? _____________
Please list other funding agencies you have applied to for funding for this project/equipment,
and funds received, if any:
_______________________________________________________________________________
_______________________________________________________________________________
□ Estimate(s) included. (Please see the FAP guidelines on www.mpssociety.ca for information on required estimates.)
Signature______________________________________________Date___________________
Thank you for submitting your Family Assistance Program funding application. The Executive Director or a member of the Board of Directors will contact you as
soon as possible to inform you of the Board’s decision regarding your application.
Please visit www.mpssociety.ca or email [email protected] for complete Family Assistance Program guidelines.
34
SUPPORT FOR FAMILIES. RESEARCH FOR A CURE.
Please consider holding a Canadian MPS Jeans Day in your community!
Jeans Days are a great way to raise funds and awareness!
Just email or call the Society office for a proposal template for your
school or business, and if approved, let us know how many people you
anticipate will be participating. You will receive a Canadian MPS Jeans
Day package with enough stickers for your event. Packages will also
contain 2 posters, 5 colour brochures (you will have to photocopy
enough brochures to distribute at your event), and a donor information
sheet to record the names and addresses of those wishing to receive
income-tax receipts for donations of $10.00 or more. Participants
simply wear their jeans on Jeans Day & donate! It’s that easy!
ORDER YOUR
CANADIAN MPS SOCIETY
AWARENESS BRACELETS!
Our bracelets are royal blue and inscribed with “BELIEVE - MPSSOCIETY.CA”
Our awareness bracelets come in three sizes: large, medium, and small and are available
for a minimum donation of $2.00 per bracelet, plus shipping.
Please place your order through our online store at www.mpssociety.ca
or call us at 604-924-5130 or 1-800-667-1846 and help spread the word about MPS diseases!
“Expression of Hope II” art cards are available for purchase!
These beautiful cards, created by and for the lysosomal storage
disorder community, come in packs of 20 inspiring designs.
View all selected pieces as well as all submissions to Expression of Hope II at
www.expressionofhope.com. Order your art cards for $25.00 by visiting our online store at
www.mpssociety.ca, or by calling 604-924-5130 or 1-800-667-1846.
THE CANADIAN MPS SOCIETY’S TRIBUTE CARD PROGRAM IS A SPECIAL WAY OF
PAYING TRIBUTE TO A LOVED ONE.
Send an MPS tribute card for any occasion as a meaningful gift to support children affected with MPS: to welcome a new baby, to
celebrate a holiday, birthday or anniversary, to memorialize the passing of a friend or relative or to say thank you to someone special.
MPS tribute cards may be ordered by making a contribution of $10.00 or more. Contact the office with your request or donate online.
Sympathy or tribute cards are sent out the same day if possible and income tax receipts are issued.
35
HAPPY HOLIDAYS FROM THE CANADIAN MPS SOCIETY!
WISHING YOU AND YOUR FAMILY A YEAR FILLED WITH
PEACE, JOY AND LOVE.
Phone: 604.924.5130 / 1.800.667.1846
Fax: 604.924.5131
Email: [email protected]
www.mpssociety.ca
Top: Artwork created by Holiday Art Contest winner Jessica
Gentle (MPS I); Above: Artwork by runners-up Monika NelisDupont (MPS I) and Stephen Priest (MPS IV B). Congratulations
to Monika - the winner of our 50.00 Visa Gift Card - and thanks to
everyone who participated in this year’s contest!
36
Charity # 12903 0409 RR0001

Winter 2011 - The Canadian MPS Society

Transcription

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