Rare Disease Day: 5p Minus/Cri du Chat Syndrome and the push for the creation of therapeutics
NEW YORK (WABC) -- February 29 is International Rare Disease Day. Eyewitness News Anchor Mike Marza spoke with Megan Leston, the co-founder of the Cri du Chat Research Foundation.
Her son, Liam, was born with the neuro-genetic disorder 5p Minus/Cri du Chat Syndrome.
A portion of the short arm of chromosome 5 is missing or deleted.
She had a normal pregnancy with Liam, but they found that he was weaker than other newborns and needed to go to the NICU for help with his breathing.
A geneticist diagnosed him with the disorder not long after his birth.
The organization aims to get a therapeutic created that could help people with this syndrome.
She points to other syndromes that have had their symptoms corrected or reduced with similar technology.
If you'd like to learn more, you can watch their YouTube video: https://www.youtube.com/watch?v=Aeo1tZ4yimA
Additional Information: https://www.criduchatresearch.org/
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