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Cure MECP2 duplication syndrome

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This is our amazing little boy Austin.  He is happy, charming, and has the most infectious smile.  He also has a very rare genetic condition called MECP2 duplication syndrome. In the past few weeks my heart has broken three times as 3 young boys with this condition earned their angel wings. No parent should have to say goodbye to their little boy, especially this time of year.

In 2014 when Austin was 15 months old, Anthony and I were pulled into a very small room, surrounded by doctors and geneticists as they described all of the struggles our child would face in his life. 
MECP2 Duplication Syndrome is a progressive neurological disorder.  Common features include non-verbal communication, infantile hypotonia (low muscle tone), global developmental delay, intellectual impairment and/or autistic traits, recurrent deadly respiratory infections, and epilepsy. Other signs and symptoms include ataxia (wobbly movements), gastro-oesophageal reflux, severe constipation, aspiration, and feeding difficulties.  

Scientists have determined that MECP2 duplication syndrome IS a reversible disorder. The only way to achieve reversibility is through continued scientific research and clinic trials, which requires funding.  Every little bit gets us one step closer to finding a cure.

For the next two weeks, for every $10 donated your name will be put in a drawing to win an iPad Air 2. On December 17th the name of a lucky winner will be drawn. The iPad can be delivered by my adorable little boy, or mailed to you. Thank you for taking an interest in finding a cure for Austin and all of the boys and girls with this condition.

Donations 

  • Mark McManus
    • $200 
    • 7 yrs

Organiser

MaryJane Bernazzani
Organiser
Boston, MA

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