NEW YORK (FOX 5 NY) – Karina Shah, 6, has spent her life living with a Chromosome 8p abnormality, a rare chromosomal disorder.
There are 200 known cases in the world.
Human cells ordinarily have 23 pairs of chromosomes, but in Karina’s case, the eighth pair of chromosomes has a section that is missing, another section duplicated and flipped around. This causes cognitive delays or impairment, low muscle tone, and many other health concerns.
Karina and her courageous family have been on a mission to learn as much as they can about the disorder.
Of Friday, the Shah family and more than 60 families from across the globe came together for the first-ever conference for patients with some type of rearrangement of their Chromosome 8p.
“Even if something wasn’t to come from the end of it all, we’ve all met each other and we’ve actually learned from each other so that in itself is a therapy,” said Julienne Donnely, whose son, Juan, has a Chromosome 8p abnormality.
Only a handful of doctors across the globe have studied the disorder, so the Shah family took it upon themselves to create the non-profit Project 8p, which aims to fund new research programs to do more research on Chromosome 8p.
The doctors in the new research program will publish their findings by the end of this year, which the families hope will bring them one more step closer to understanding the disorder.
