Guérir Loucas et Étienne

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English version follows.

Loucas, 2 ans et demi et Étienne, 8 mois, sont deux garçons de Montréal qui présentaient d'importants retards de développement depuis leur naissance. Au cours des derniers mois, tous les deux ont reçu chacun leur tour le même diagnostic: syndrome de duplication de MECP2. Par l'entremise de la conseillère en génétique de l'hôpital Sainte-Justine, les deux garçons et leurs mamans ont pu se rencontrer. Nous sommes ces mamans qui vous demandons aujourd'hui votre aide pour nous aider à guérir nos enfants.

Le syndrome de duplication de MECP2 est une maladie très rare (un peu plus de 200 cas répertoriés dans le monde!) qui a de graves conséquences sur le développement neurologique de ceux qui en sont atteints. Ces enfants présentent un lourd retard mental, des traits autistiques, des difficultés motrices, ne peuvent pas parler et sont sujets aux infections respiratoires et aux crises d'épilepsie. Ces symptômes sont dus à la surproduction de protéines MECP2 dans le cerveau.

Le problème avec les maladies rares comme celle de Loucas et Étienne, c'est que les recherches qui les concernent sont très difficiles à financer parce que les compagnies pharmaceutiques ne s'y intéressent pas. Il revient donc aux familles de trouver les fonds pour les financer. En 2015, un article paru dans la prestigieuse revue Nature dévoilait les résultats épatants d'une des recherches ainsi financées par les familles: l'incroyable Dr Huda Zoghbi et ses collègues sont arrivés à démontrer qu'il était possible de renverser les symptômes chez des souris adultes atteintes du syndrome de duplication de MECP2 en normalisant le taux de protéines MECP2 dans leur cerveau. Depuis cet article, les recherches se sont poursuivies et plusieurs alternatives thérapeutiques prometteuses ont été découvertes. Le travail des chercheurs doit cependant continuer encore quelques années pour rendre ces traitements sécuritaires avant d'en arriver aux études cliniques sur les patients. La prochaine phase de recherche nécessite 300 000$ et environ la moitié de ces fonds ont étés collectés jusqu'à présent. Vos dons peuvent donc réellement faire une différence!!

Nous serions très reconnaissantes que vous donniez à cette cause, quel que soit le montant qui est confortable pour vous, afin d'améliorer l'avenir de Loucas, d'Étienne et des autres enfants atteints de cette maladie. Parlez de nous à vos familles aussi :)

Merci,

Charlotte (maman d'Étienne) et Cynthia (maman de Loucas)

Loucas, 2 and a half years old, and Étienne, 8 months old, are two Montreal boys who have shown serious developmental delays since birth. In the last several months each of them have received the same diagnosis: MECP2 Duplication Syndrome. Both mothers and their sons were able to connect through the support of their genetic counsellor at Sainte-Justine Hospital. We are these two mothers and we are asking you today for your help in our efforts to heal our children.

MECP2 Duplication Syndrome is a very rare disease (only 200 cases recorded worldwide !) that has serious consequences on the neurological development of those affected.  These children are heavily delayed mentally, have autistic traits, mobility problems, cannot speak and are subject to respiratory infections and epileptic seizures. These symptoms are the result of an overproduction of MECP2 proteins in the brain.

The problem with rare diseases like that of Loucas and Étienne is that the research required to cure them is very difficult to finance because the pharmaceutical companies are not interested.  Therefore it falls upon the families to find the funds to finance the research. In 2015, an article appeared in the prestigious journal Nature revealing the outstanding results of one of the research projects financed by families: Dr Huda Zoghbi and her colleagues were able to demonstrate that it is possible to reverse the symptoms in adult mice afflicted with the MECP2 duplication syndrome in their brain.  Since this article appeared, the research has continued and several promising therapeutic alternatives have been discovered.  However the work of the researchers still has to be continued for several years to ensure the safety of these treatments before they can be administered in clinical trials on these patients.  $300,000 is required for the next phase of development, and about half of this amount has been collected to date. Your donations can really make a difference !!

We would be very grateful if you can contribute to this cause, whatever amount is comfortable for you, so that the future of Loucas, Étienne and other children afflicted with this disease can be improved. Talk to your families about us too.

Thank you!

Charlotte (Étienne’s mother) et Cynthia (Loucas’ mother)


What is MECP2 Duplication Syndrome?

Unlike Rett Syndrome, which is caused by mutations or deletions in the MECP2 gene, the symptoms that arise from the duplication syndrome are caused, as the name suggests, by having an area of the X chromosome (Xq28), which includes the MECP2 gene, erroneously duplicated. The section duplicated may vary from individual to individual and may also contribute to the severity of the disease.
The syndrome has been diagnosed mostly in boys. The majority inherits the duplication from their mothers who are typically asymptomatic due to favorable X chromosome inactivation (the moms have inactivated the X chromosome that harbors the duplication). Carrier mothers have a 50% chance of passing on the duplication to their children, meaning MECP2 Duplication Syndrome may be quite prevalent.

Learn more about MECP2 Duplication here.

What is the MECP2 Duplication Syndrome Fund at RSRT?

In an effort to immediately leverage RSRT's deep knowledge base and well established global scientific networks the MECP2 Duplication Syndrome Fund at RSRT was created in late 2010. The Fund puts the intellectual and scientific resources of RSRT immediately to work for the MECP2 Duplication/Triplication Syndrome community.
The Fund exclusively supports projects devoted to the study and means of treatment of MECP2 Duplication Syndrome. 100% of every dollar contributed is invested in research - not a single penny goes to overhead.
In 2012, a parent-driven effort was established to raise funds for the initial reversal experiments conducted at the Baylor College of Medicine. Families pledged to raise $401 to cover the cost of the experiments. The initiative was a success, and the 401 Project was born. All funds raised through the 401 Project initiative are directly deposited into the MECP2 Duplication Syndrome Fund at RSRT.

Learn more about RSRT here.

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