Local mom raising awareness for baby with ultra-rare genetic disorder
BINGHAMTON (WBNG) -- A local mom has found herself in an interesting position, educating medical providers on her daughter’s genetic disorder. Now, she is holding a fundraiser in order to provide more research for it.
Gabriella Gosney’s daughter, Josie, was born in December 2021 and ended up in the NICU. After two months of discussion and thinking something wasn’t right, her parents decided to take her to the doctor and test her.
Results came back that she has 5P Minus syndrome or Cri Du Chat. It’s a super rare genetic disorder which basically means that she has part of her fifth chromosome short arm missing.
Gosney said, she and her husband have had to do a lot of research and even teach themselves about Cri Du chat. This disorder occurs in one in 50,000 live births which makes it difficult to find care. Gosney said one of the issues with Cru Du Chat is no one in the area understands it or knows about it.
“Josie goes to occupational therapy, feeding, speech therapy, and physical therapy twice a week which totals to around 10 hours of assistance and therapy each week,” said Gosney. “She also has an at-home nurse and a home health aide as well, but she says they play it day by day.”
Gosney said Josie and her family are learning sign language in the event that’s how Josie will communicate.
“I just really want people to be aware of what some families might deal with, and that there’s a need for this awareness because of things like this that are so rare. Like, we need doctors, and nurses and scientists to know about this,” said Gosney.
There is a foundation dedicated to clinical research in gene therapy specifically that of Cri Du Chat. Unfortunately, funding for rare disease research is limited and often family driven. Gosney is holding a fundraiser for this.
If you would like to donate, please visit this website.
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