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CDG INTERNATIONAL

eNEWSLETTER (MAY 2012)

EDITORIAL

In this newsletter we are pleased to

announce that the undoubted highlights are four

important meetings which we cover in more detail

in this newsletter:

3rd Annual Rare Disease Symposium held on

February 24, 2012 at the Sanford-Burnham

Medical Research Institute in La Jolla, California

(USA) which was hosted by Dr. Hudson Freeze;

VII Week of Social Responsibility held on May

in Lisbon;

CDG patients voice will present a poster at

EUROPEAN CONFERENCE ON RARE DISEASES

& ORPHAN PRODUCTS that will be held in

Brussels

CDG Family Network Conference: the

conference will be held June 22 - 24, 2012 at the

Marriott Midway Chicago Hotel.

The "European Patients' Academy on

Therapeutic Innovation" (EUPATI) was launched

in February 2012 and will run for five years. Their

main focus is to provide scientifically reliable,

objective, comprehensive information to patients

on pharmaceutical R&D. It will increase the

capacity of well-informed patients to be effective

advocates and advisors., e.g. in clinical trials, with

regulatory authorities and in ethics committees.

CDG patients voice participated in the identification

of existing educational material and training

resources on medicines development.

On the National level, the group of Dr Rita

Barone and Dr Agata Fiumara, in Italy did a

summary to our CDG community entitled:

Congenital Disorders of Glycosylation (CDG):

the Italian experience in the Euroglycanet

network (2005-2010). In addition, the fairy-tale

“The Glycoland and the coloured antennas”, is now

available in French. Both documents can be found

on http://www.rareconnect.org/en/community/cdg

On April 27th a new CDG parents/ patient

information day was organized by Dr Dirk Lefeber

and Dr Eva Morava in Nijmegen (Netherlands),

with the opportunity to visit the laboratory facility.

Our eNewsletter also covers the different

meetings in which CDG patients voice will attend.

Furthermore, we included a new section that was

purposed by LaRae Mercer-Wise (Parent of

Melanie) named “ASK A FAMILY MEMBER”. In the

next newsletters we will also include “ASK THE

EXPERTS”.

Finally, the Portuguese Association for CDG

and other Rare Metabolic Diseases (APCDG-DMR)

coordinated a project in collaboration with “Guia

Metabólica” focused in the translation to

Portuguese of Fairy-tales and 60 leaflets related

to different Inborn Errors of Metabolism.

Several Portuguese Metabolic experts were

involved. Currently, in collaboration with Dr

Mercedes Serrano (neuropediatrician at Guia

Metabólica) and Dr Maria Antonia Vilaseca

(coordinator of Guia Metabólica) we are doing the

layout of this material and we hope to have them

available in Guia Metabólica as soon as possible.

I hope you will enjoy this newsletter with

such clear focus on CDG families’ developments at

the International level.

On behalf of the CDG families, I wish you a

nice reading,

Vanessa Ferreira (sindromecdg@gmail.com)

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CDG AT INTERNATIONAL LEVEL

CDG USA: 3rd Annual Rare Disease Symposium- A Parent’s Reflection

The 3rd Annual Rare Disease Symposium

was held on February 24, 2012 at the Sanford-

Burnham Medical Research Institute in La Jolla,

California. This year the conference was hosted by

Dr. Hudson Freeze Ph.D., Director of the Genetic

Disease Program, and focused on glycosylation-

based disorders. Among many of the field experts

in rare disease research and treatment, sat a small

group of parents whose children are affected by a

Congenital Disorder of Glycosylation. The following

excerpt is a summary of what several of us parents

took from this exciting event that we would like to

share with the Rare Disease Community.

As LeeAnn Boland, mom to Sean (CDG 1a)

states, “anyone who is contemplating going next

year…just save the date, put it on your calendar and

plan to be there!” To say that we, as parents, were

welcomed and embraced by the medical

community is an understatement. From the

moment we signed in at registration, one could feel

the love and respect coming from the wide range of

conference attendees. I, Jamie Bican, mom to

Connor (CDG 1x), felt my inhibitions dissipate

instantly when Freeze himself greeted me at the

front door with a big smile and a hug. Having never

met the man before, except through email

correspondence, I just knew I was part of

something special that day, and any doubt that I

made the right decision to attend was squashed in

an instant. We can also unanimously agree that the

VIP tour of Freeze’s research lab at the Burnham

Institute was a highlight of the day. LaRae Mercer-

Wise, mom to Melanie (CDG 1x) recalls that, “as we

entered Dr. Freeze’s lab our eyes were quickly

drawn to the smiles of children in a framed collage

of photos on the wall. The children in the photos all

had one thing in common; they had the rare disease

CDG. Dr. Freeze stopped and pointed to the

children on the wall and commented, ‘this is who

we work for and this is what inspires us here in the

lab every day.’” Interestingly, this concept was

made repeatedly evident throughout the

conference as Freeze continued to stress working

hard for his employers who are, in fact, the families.

We found this to be, as LeeAnn states, “both

gratifying and humbling.”

Dr. Hudson Freeze showing the parents his photo collage of CDG children located at the entrance of the research lab.

I think all of us parents came in to the

conference with some burning questions: “Have

there been new discoveries in subtypes, new

therapies, steps made toward a cure?” Well I

believe we can confidently say Yes, Yes, and Yes

to all of these questions. However, because we

are not scientific experts- after all, this was a

medical symposium where doctors and researchers

were presenting to their peers-we will only briefly

touch upon what was discussed. To obtain more

detailed information, please watch the videos of the

panel discussions that are posted on the Sanford-

Burnham website under Third Annual Rare Disease

Day Symposium.

First, we were encouraged to learn that not

only are many new subtypes being discovered all

the time, but CDG can now be diagnosed with an

assay, or test, that is both simple and cheap to

perform. A marker called Transferrin IEF can be

used through a process termed isoletric focusing.

As Dr. Thorsten Marquardt M.D. explained, we now

have the key to identifying future CDG patients.

This is significant because as renowned CDG

researcher Jaak Jaeken M.D., Ph.D., has previously

stated, “any child or adult with an unclear or

unidentified disease should be tested for CDG” and

community experts believe there is a considerable

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amount of CDG cases that remain undiagnosed.

Secondly, Claudia Vasquez, mom to Oliver

(CDG 1a,) recalls that it was “wonderful to hear Dr.

Marquardt give encouraging news regarding a

possible treatment of Mannose in CDG 1a kids, the

most common subtype consisting of about 1000

patients.” Although the dual treatment of Mannose

plus an additional drug is showing some promise in

type 1a’s, they still have yet to perform any clinical

trials on human patients. Therefore, Dr. Freeze and

Dr. Marquardt made it very clear not to self-treat

with Mannose unless supervised by a physician in a

controlled environment because patients can run

the risk of possible Mannose toxicity or other

significant side effects! Freeze added they are

currently working on funding for these clinical

trials and reassured us they are encouraged by the

past research, and therefore confident we are

moving toward a successful treatment. Finally, the

panel experts stressed the idea of collaborations

between physicians, parents and research groups

being extremely important in diagnosing subtypes

and treating the condition. As Dr. Marc Patterson

M.D. stated, “there is no such thing as an un-

treatable disease. We have to remember we can

treat the patients symptomatically. Many times

general physicians are scared to treat these “rare

diseases,” so one suggestion is to work within the

CDG community to publish guidelines, or a road-

map, of what these physicians or pediatricians

should look for. This is where social networking, in

which parents share their individual experiences,

can be extremely helpful.

LaRae concludes that it is obvious the staff

at Sanford-Burnham is a special group of dedicated

experts working toward the goal of discovering

new subtypes, developing therapies, and

ultimately- a cure. Both governmental and private

funding, such as The Rocket Fund, greatly help this

research move forward; however, more funding is

always needed and the team is consistently

brainstorming as to how they can achieve that. The

parents were also given the rare opportunity to

meet Mr. Denny Sanford, friend and benefactor of

the Sanford Burnham Institute. Each of us felt

honored to shake the hand of one of the men who

has made so much of this research possible for the

sake of our children. We believe each parent left

the symposium that day with the realization that

not only are the children under the care of Dr.

Freeze and his team known on a first name basis,

but that the experts truly have a special place in

their hearts for children with rare diseases.

Consequently, they continue to make remarkable

progress everyday by relentlessly pursuing avenues

toward discovering new subtypes, treatment

options and a potential cure.

Author Jamie Bican with husband Joe and son Connor (CDG 1x).

Contributing Authors: Jamie Bican – Parent of Connor (CDG 1x) LaRae Mercer-Wise - Parent of Melanie (CDG 1x) LeeAnn Boland – Parent of Sean (CDG 1a) Claudia Vasquez – Parent of Oliver (CDG 1a) Please watch the videos of the panel discussions in the following link: http://www.rareconnect.org/en/community/cdg/article/hudson-freeze-progress-in-glycosylation-disorders

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CDG NETHERLANDS: CDG information day 2012

On April 27th a successful CDG parents/

patient information day was organized in Nijmegen

(Netherlands), with the opportunity to visit Dr Dirk

Lefeber and Dr Eva Morava laboratory facility. In

addition, recently, the Nijmegen Team was awarded

at the 24th Annual meeting of the Dutch Society for

Inborn Errors of Metabolism. Their contributions in

the discovery of 6 new glycosylation defects, was

highlighted. The research of Monique van

Scherpenzeel, Miski Mohamed, Moniek Riemersma,

Thatjana Gardeitchik, and Saskia Wortmann is part

of the IGMD research themes “Glycosylation

Disorders” and “Mitochondrial medicine”. In view

of the important contribution of all five abstracts,

the jury decided for the first time to, instead of the

usual best abstract prize, give a “Team award” to

the whole Nijmegen team. Source and more

information:

http://www.nijmegencdg.nl/English/index.htm

CDG ITALY: Congenital Disorders of Glycosylation (CDG): the Italian experience in the Euroglycanet network (2005-2010)

R. Barone1, L. Sturiale2, D. Garozzo2, G. Sorge1, A. Fiumara1

1 Policlinico - Università di Catania; - 2Istituto di Chimica e Tecnologia dei Polimeri - CNR – Catania.

An article done by the group of Dr Rita

Barone and Dr Agata Fiumara is now available on

CDG community and summarizes the Italian

experience in the Euroglycanet network. This

document can be found in the following link:

http://www.rareconnect.org/en/community/cdg

Overall, this group identified 21 patients

with molecular defects along the N-glycosylation

pathway. Fourteen patients had PMM2-CDG (CDG-

Ia) that is the most common among CDG subtypes.

In addition to the classic, severe PMM2-CDG, Dr

Barone and Dr Fiumara could detect a “mild”

phenotype based on the developmental pattern,

absence of microcephaly, and mild cerebellar

atrophy. All patients with “mild” PMM2-CDG were

compound heterozygous for p.L32R mutation of the

PMM2 gene. Seven patients (38%) had no PMM2-

CDG. They showed dysmorphic features (7/7),

microcephaly (6/7), severe psychomotor delay

(6/7), drug-resistant epilepsy with onset in the first

year of life, (6/7), visual impairment (5/7). They

had no cerebellar atrophy.

Based on their work it is suggested that CDG

should be considered among inherited metabolic

diseases with early onset epileptic encephalopathy.

CDG FRANCE: THE FAIRY-TALE

“The Glycoland and the coloured antennas”, is now available in French

In this story about a colony of ants with

coloured antennas society will be able to see what

happens when a problem occurs to prevent this

happening, and how important it is for us to

dedicate our effort in helping people who suffer a

metabolic disease, be it by worrying about their

problem, trying to understand it by way of a story

which explains it, or doing anything and everything

possible to help these diseases being known and

overcome.

We kindly request to CDG experts to

inform French families about this information

and dissemination tool.

The” Glycolandie et les antennes multicolores”, can be downloaded from: http://www.guiametabolica.org/aprender-jugando/glicolandia-y-las-antenas-de-colores

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CDG PORTUGAL: a chapter of a book named “Congenital Disorders of

Glycosylation (CDG): From glycoproteins to patient care” was written

Professor Amelia Pilar Rauter, Member of

the Steering Committee and Executive for

Glycochemistry of the ESF Research Network

Euroglycoscience Forum invited Vanessa Ferreira

(Portuguese CDG Association and other Rare

Metabolic Diseases), Dr Paz Briones (Hospital

Clínic, Barcelona,pain) and Dr Maria Antonia

Vilaseca (Guia Metabólica, HSJD, Barcelona, Spain)

to write a targeted to the Vol 38 of the Royal Society

of Chemistry.

This year the book highlights important

latest findings and the innovation in Europe

concerning carbohydrates chemistry and biology.

The book will be presented at the 26th

International Carbohydrate Symposium (ICS2012)

in Madrid, Spain, from July 22nd to 27th, 2012.

On behalf of the authors I would like to

express that this book was a unique opportunity to

connect researchers and patients. We enjoyed a lot

the brainstorming that we had during the

development of our work! THANKS!

Please note that there will be two oral

communications related to CDG:

J. Jaeken (Belgium): Congenital Disorders of

Glycosylation (CDG): a booming disease family

V. Ferreira (Portugal): Partnership amongst

families, researchers and physicians to decipher

Congenital Disorders of Glycosylation (CDG).

PLEASE SAVE THE DATE: 26th International Carbohydrate Symposium (ICS2012)

in Madrid, Spain, from July 22nd to 27th, 2012.

CDG NETWORKING

VII WEEK OF SOCIAL RESPONSIBILITY IN LISBON:

A partnership amongst Dr Paula Videira laboratory (CEDOC, Portugal) and APCDG-DMR

The Portuguese CDG Association and other Rare Metabolic Diseases (APCDG-DMR) attended the VII

Week of social responsibility held in Lisbon (8 May). We are pleased to announce that the group of Professora

Paula Videira (Assistant Professor, Medical Sciences Faculty, Chronic Diseases Research

Center,Lisbon,Portugal) gave us an important support: they presented a poster focus in the partnership that we

have developed since one year ago. Together we aim to potentiate research related to CDG. We are grateful to

all members of Dr Videira, but I would like to express our gratitude to Dr Guadalupe Cabral who was in the

conference helping us and sharing with the audience the importance of their research in the Glycoimmuno area.

For further information about Dr Paula Videira laboratory:

http://www.rareconnect.org/en/community/cdg/article/glycoimmunology-group

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APCDG-DMR presented the following poster:

CDG PATIENTS VOICE WILL ATTEND 6th European Conference on Rare Diseases & Orphan Products

The 6th European Conference on Rare Diseases & Orphan Products, aims to be the most important rare

disease policy forum of the year. This conference is the unique platform/forum across all rare diseases, all

European countries, bringing together all stakeholders - academics, health care and industry professionals,

policy makers, patients’ representatives.

Highlight:

The CDG patients voice was selected to present a poster entitled: “THE EMPOWERMENT OF CDG

PATIENT VOICE”.

Friday 25 May 2012- 11.00 - 12.30 THEME 4: RESEARCH FROM BENCH TO BEDSIDE Breakthroughs in research in the field of rare diseases: New genetic diagnostics: - Example of genetic diagnostics in a real life setting

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- Technological advances in next generation sequencing - Next generation sequencing: A policy perspective Session Chair: Gert Matthijs, EUROGENTEST, Belgium Speakers: David Barton, National Centre for Medical Genetics, Ireland Joris Veltman, Associate Professor Genomic Disorders, Nijmegen, The Netherlands Koen Devriendt, Leuven, Belgium

CDG AWARENESS AND DISSEMINATION

GUIA METABÓLICA IN PORTUGUESE and articles related to CDG are available

In collaboration with medical doctors and

families from Portugal, 5 Fairy tales and 57 leaflets

related to different Rare Metabolic Diseases have

been translated to Portuguese. Currently, in

collaboration with Dr Mercedes Serrano

(Neuropediatrician at Guia Metabólica) and Dr

Maria Antonia Vilaseca (coordinator of Guia

Metabólica we are doing the layout of this material.

On behalf of the Portuguese CDG Association and

other Rare Metabolic Diseases, I would to thanks all

Portuguese metabolic experts, families and Guia

Metabólica that participated in this project which

we believe will be a meaningful change in Inborn

Errors of Metabolism.

Finally, the following articles related to CDG are now available in Guia Metabólica:

• Guidelines for CDG nutrition (Pautas de nutrición en el defecto congénito de la glicosilación (CDG)).

• CDG during adolescence (CDG en adolescentes)

Both available in:

http://www.guiametabolica.org/consejos-recomendaciones

• Osteopenia in Inborn Errors of Metabolism (IEM) (Osteopenia en las enfermedades metabólicas

hereditarias (ECM))

http://www.guiametabolica.org/consejo/osteopenia-en-las-enfermedades-metabolicas-hereditarias-ecm

• Psychological reactions in brothers and/or sisters of patients with Inborn Errors of Metabolism

(IEM) (Reacciones psicológicas en hermanos de pacientes con ECM):

http://www.guiametabolica.org/consejo/reacciones-psicologicas-en-hermanos-de-pacientes-con-ecm

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PROJECT DONE WITH HIGH SCHOOL “ Caldas das Taipas “

GAVE VISIBILITY TO CDG

Prontos a descobrir…

No decorrer do nosso 12ºano, em

2010/2011, tivemos a oportunidade de ter área de

Projeto, uma disciplina que nos deu a possibilidade

de desenvolver um projeto criado e delineado por

nós, onde pudéssemos descobrir, conhecer, estudar

e trabalhar algo que despertasse o nosso interesse.

Eis a oportunidade ideal para se juntarem 4 pessoas

que queriam saber mais sobre doenças

neurodegenerativas.

O que são doenças neurodegenerativas? No

trabalho que desenvolvemos, englobamos

inquéritos que nos fizeram perceber que apenas

uma percentagem muito reduzida sabia definir este

conceito e de uma maneira muito vaga. Alzheimer e

Parkinson eram praticamente as únicas de entre as

várias doenças deste tipo conhecidas pela

população, mas também de uma maneira muito

superficial.

Mas o nosso interesse neste projeto levou-

nos mais longe, desenvolvemos cartazes (ao qual

chamamos NeuroWeek), vídeos de sensibilização,

realizamos um jornal de parede mensal intitulado

NeuroNews, que afixamos na escola, mas também

em dois Centros de Saúde. Participamos no

concurso “Ciências, Saúde e Voluntariado”, em

Lisboa, falamos com vários profissionais,

contactamos o Instituto de Genética Jacinto

Magalhães, a Fundação Champalimoaud, o Centro

de Genética Clínica (CGC), entre outras entidades e

visitamos o Instituto de Biologia Molecular e

Celular do Porto. Aí, conhecemos a Dra. Vanessa dos

Reis, Bióloga e presidente da Associação

Portuguesa de CDG e outras Doenças Metabólicas

Raras, que nos ajudou e incentivou ainda mais a

procurar descobrir mais sobre estas doenças. A

APCDG-DMR foi uma base importante em todo o

nosso trabalho e pesquisa, deu-nos acesso a

bastante informação, assim como vários concelhos

e acima de tudo interessava-se pelo projecto, como

estava o seu desenvolvimento, etc., foram muito

acolhedores. Por tudo, devemos um grande

OBRIGADO á Dra. Vanessa. A juntar à colaboração

da Dra. Vanessa dos Reis, outros nomes poderiam

ser citados.

Alzheimer, Parkinson, Huntington, CDG,

Doença de Machado-Joseph e Esclerose Múltipla,

foram as doenças sobre as quais tentamos

aprofundar os nossos conhecimentos. Todas elas

foram escolhidas aleatoriamente pela nossa

curiosidade, menos uma delas, CDG (Congenital

Disorders of Glycosylation), que surgiu de um caso

familiar de um dos elementos do nosso grupo, daí o

interesse pelo conhecimento desta doença ainda ter

ido mais longe, nos ter surpreendido e nos ter

tocado ainda mais.

Com o trabalho que desenvolvemos,

percebemos que sabíamos tão pouco e que

terminamo-lo muito mais enriquecidos. Crescemos

como pessoas, pois conhecemos casos de vida que

nos tocaram e nos tornaram ainda mais sensíveis

pelas pessoas que padecem destas enfermidades,

compreendendo que o apoio à família destes

doentes é tão importante como o apoio ao doente,

pois só conseguimos ajudar o doente se a família

também o souber ajudar. Assim, entramos em

questões complexas e em dilemas esquecidos pela

população em geral. Sem dúvida que assimilamos

novos conhecimentos que tentamos partilhar com a

população mais próxima de nós e por isso o balanço

deste projeto só poderia ter sido positivo e não

poderia ter sido mais gratificante. Hoje, somos os 4

estudantes universitários, em áreas que se ligam à

saúde e embora tivéssemos terminado este projeto,

continuamos motivados por este campo tão basto

de conhecimentos que as áreas de ciências e saúde

tem vindo a aumentar e somos pessoas mais

conscientes e sensibilizadas para esta realidade.

Cláudia Peixoto, Sara Marques, Tiago Almeida e

Vítor Macedo

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As part of their studies Cláudia Peixoto, Sara Marques, Tiago Almeida and Vítor Macedo from “Caldas das Taipas” school, did a

project focused in several diseases. They had a particular interest in CDG, and they dedicated a newsletter to CDG.

GUIDE TO UNDERSTANDING CDG SOON IN ENGLISH

Dear all, I am pleased to announce that we are currently finishing the English version of the

"Practical Guide for CDG Families”.

On behalf of CDG families I would like to mention the Acknowledgements part of this

work:

It is a pleasure to thank the many people

who made this Guide possible.

I would like to express my gratitude to Dr

Donna Krasnewich, whose expertise, help and

revision are an added and precious value! I

appreciate Dr Donna’s vast knowledge and her

willing in helping CDG families! THANKS! A very

special thanks goes to Merell Liddle and Andrea

Berarducci without their corrections this guide

would never be finished! You are both, an

inspiration!

This "Practical Guide for CDG Families” is

the direct result of many people who have

participated in meetings, the exchange of e-mails,

the elaboration of texts, multiple corrections and

translations, and provided comments and

proofreading for final approval! To all of you, I want

to express my deepest and sincere THANKS!

I want to especially thank Dr. Maria

Antonia Vilaseca, Dr. Belén Pérez Dueñas and

Professor Jaak Jaeken, for their support, patience

and continued interest during the preparation of

this work.

I would like to extend my gratitude to CDG

families, because many of these questions were

compiled by the spanish and portuguese parents

through an informal survey, and many others are

based on my personal curiosities.

Finally, I want to thank all people who

believe in the voice of individuals with CDG!

To all of you, THANK YOU!

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CDG LIBRARY

The following articles were published in PUBMED. If you wish an article please write to

sindromecdg@gmail.com

1. Identification of intercellular cell adhesion molecule 1 (ICAM-1) as a hypo-glycosylation marker in congenital disorders of

glycosylation cells. He P, Ng BG, Losfeld ME, Zhu W, Freeze HH.

2. Congenital disorder of glycosylation: a case presentation. Snow TM, Woods CW, Woods AG.

3. Congenital disorders of glycosylation. Woods AG, Woods CW, Snow TM.

4. Thyroid function in PMM2-CDG: diagnostic approach and proposed management. Mohamed M, Theodore M, Claahsen-van der

Grinten H, van Herwaarden AE, Huijben K, van Dongen L, Kouwenberg D, Lefeber DJ, Wevers RA, Morava E.

5. Hypertrophic Cardiomyopathy With Cardiac Rupture and Tamponade Caused by Congenital Disorder of Glycosylation Type Ia. Rudaks LI, Andersen C, Khong TY, Kelly A, Fietz M, Barnett CP.

6. Diseases of glycosylation beyond classical congenital disorders of glycosylation. Hennet T.

7. From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to

dolichol kinase deficiency (DK1-CDG). Kapusta L, Zucker N, Frenckel G, Medalion B, Gal TB, Birk E, Mandel H, Nasser N, Morgenstern S,

Zuckermann A, Lefeber DJ, de Brouwer A, Wevers RA, Lorber A, Morava E.

8. Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of

candidate genes. Sorte H, Mørkrid L, Rødningen O, Kulseth MA, Stray-Pedersen A, Matthijs G, Race V, Houge G, Fiskerstrand T, Bjurulf B, Lyle

R, Prescott T.

9. DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. Jones MA, Ng

BG, Bhide S, Chin E, Rhodenizer D, He P, Losfeld ME, He M, Raymond K, Berry G, Freeze HH, Hegde MR.

10. Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare

disease. Würde AE, Reunert J, Rust S, Hertzberg C, Haverkämper S, Nürnberg G, Nürnberg P, Lehle L, Rossi R, Marquardt T.

NEWS

DR MARIA ANTONIA VILASECA AND DR JAAK JAEKEN HAVE BEEN APPOINTED

HONORARY MEMBER BY APCDG-DMR

The grade of Honorary Member is a significant honor bestowed by the Portuguese Association for CDG

and other Rare Metabolic Diseases (APCDG-DMR) and is awarded for life to an individual. It was established by

the APCDG-DMR with the following description: Honorary members are elected by the Board of Directors to

those individuals that have rendered meritorious service to humanity in the APCDG-DMR designated fields of

interest and who are not members of the APCDG-DMR.

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"Ask a Family Member" a new section launched in this eNewsletter

What do you feel your main concerns are as a

parent of an adult child with CDG?

Answered by LaRae Mercer-Wise -

Parent of Melanie (CDG 1x)

The need for advocacy, respite and a strong

support network continues as our children enter

adulthood. Transitions such as from school to adult

programs and work opportunities, social

integration, housing and whether or not to seek

conservatorship or guardianship in addition to

ongoing therapies, medical issues and special

services can become all encompassing. As my

daughter continues to assert her independence, I

try to respect her personal wants and needs, but I

do still try to remember how important it is to

nurture myself as well even though that is often

easier said than done.

Answered by LeeAnn Boland-Parent of Sean

Our main concerns are:

1) To continue to keep abreast of current research,

trials, and other related information from the

specialists who work on CDG .

2) Expanding our knowledge as it relates to

postsecondary options for supported living,

independent living skills, and supported

employment opportunities.

3) Learning to entrust others with Sean's care - not

an easy task when we have been caring for him for

21 years. It's very hard to let go, but that's the only

way he will have the opportunity to grow and

mature."

Note: Thanks Larae for this wonderful idea! In the next eNewsletter we will include “Ask an expert”!

A RARE DISEASE IN FOCUS

OSTEOGÉNESE IMPERFEITA EM FESTA

O lema é CELEBRA A VIDA!

A Osteogénese Imperfeita (OI) é uma

Doença Rara, caracterizada maioritariamente por

deformação e fractura frequente dos ossos, quer

espontânea, quer por traumatismos mínimos, pelo

que também é conhecida por “doença dos ossos de

vidro”.

As dificuldades de apoio, o

desconhecimento da doença, mesmo por parte dos

profissionais de saúde, a falta de enquadramento

legal da doença, a falta de centros de referência

para o diagnóstico e o tratamento, a falta de

estruturas que permitam uma melhor integração

escolar, social e profissional, levaram a que a

Direcção da APOI fosse confrontada com a

necessidade EMERGENTE de promover a

divulgação da doença.

A nossa Associação, Associação Portuguesa

de Osteogénese Imperfeita - APOI, é uma IPSS

(organização nacional, voluntária e não lucrativa)

que pretende dedicar-se a ajudar os portadores de

Osteogénese Imperfeita a lidarem com os

problemas associados à sua doença.

(sitewww.freewebs.com\aposteogeneseimperfeita\

).

A efeméride do “Dia Internacional da

Osteogénese Imperfeita (International Wishbone

Day)” foi introduzida em Portugal, pela APOI, no

ano de 2011 e teve um sucesso enorme trazendo

até nós mais portadores de OI e mais profissionais

de saúde e permitindo uma melhor aquisição de

competências por partes dos doentes e famílias

através das actividades realizadas.

A Campanha de 2012, sob o tema “CELEBRA

A VIDA” pretende continuar este projecto, quer

através do fornecimento de material pedagógico,

quer através de actividades sociais que promovam

12

a troca de experiencias e vivências entre os

diversos participantes.

Este dia serve para mostrar que

reconhecemos e respeitamos as pessoas por aquilo

que elas são, TAL E QUAL COMO SÃO! Queremos

que no Dia Internacional da OI todos celebrem

connosco.

A ideia nasceu na Austrália, ter um dia

especialmente dedicado à Osteogénese Imperfeita

para ser celebrado por todo o mundo.

A origem do nome "Wishbone Day - Dia do

Osso da Sorte" prende-se com o facto de nos países

de língua inglesa esta expressão ser

frequentemente utilizada para definir aquele

ossinho em forma de Y que só as aves possuem

junto à quilha torácica e com o qual brincam para

ver quem fica com o sortudo lado que lhe permite

pedir um desejo

Devido a esta brincadeirinha, a maior partes

das Associações de OI dos países de língua oficial

inglesa, possuem este símbolo como logotipo e

agora ele foi adoptado internacionalmente para

representar o Dia Internacional da Osteogénese

Imperfeita.

Por todo o mundo o Dia Internacional da OI

está a tornar-se um fenómeno, É PRECISO AJUDAR

ESTA IDEIA A CRESCER! As actividades do Dia

Internacional da OI são uma festa e mostram o lado

positivo da OI e da vida. Através da divulgação do

Dia Internacional da OI podemos mostrar a

importância de ter melhor acesso a diagnóstico, a

tratamentos e a apoios sociais. Ajudamos a

construir um melhor conhecimento acerca da

doença. Damos voz activa aos portadores de OI e as

suas famílias, para serem parceiros activos na

construção do seu futuro.

Acreditamos que a união e o empenho das

famílias, dos profissionais de saúde e Da Sociedade

civil, podem ter um papel fundamental no

desenvolvimento de interesses sociais comuns e

poderão contribuir para tornar o mundo dos

portadores de OI um pouco melhor.

Nota: Agradecemos à M Céu Barreiros, Presidente

da Direcção da Associação Portuguesa de

Osteogénese Imperfeita o envio deste texto que

esperamos dê visibilidade a esta doença rara.

FUTURE CONFERENCES

CDG Family Network Conference, Chicago, June 22-24, 2012

LOCATION: Marriott Midway Chicago, Illinois HOTEL INFORMATION: Marriot Midway Chicago Toll Free (800) 328-9290 Direct (708) 594-5500 Rate - $89.00 per night for 1 King, or 2 Queen Standard Room, Rate will be honored for up to 5 nights Group Name: CDG Family Network Group Code: cdgcdga Direct Reservation Link: http://www.marriott.com/hotels/travel/chima-chicago-marriott-midway/?toDate=6/23/12&groupCode=cdgcdga&fromDate=6/22/12&app=resvlink Reservations must be made by June 1, 2012, and Conference Rate is subject to availability. CONFERENCE REGISTRATION FEE: $100 per Adult, $40 per Child Fee includes 3 meals on Saturday and 2 meals on Sunday There is an informal gathering scheduled for FRIDAY evening at the hotel at TGI Friday’s. Meal and beverages purchased durin g Friday evening’s activities are at your own cost. Conference Registration materials will be published the week of April 23rd. CONFERENCE INFORMATION: Featured Speakers include: Dr. Marc Patterson, Dr. Hudson Freeze, Dr. Donna Krasnewich, Dr. Bradley Miller and Liz Donohue Invited Speakers include: Dr. Jaak Jaeken, and Dr. Fernando Scaglia