Rett syndrome is a progressive neurodevelopmental disorder that occurs in 1 of every 10,000 births worldwide and is seen almost exclusively in girls. Rett syndrome is often misdiagnosed as autism,… CONTINUE
The CF Foundation: Rebels for a Cause
So many people talk about changing the world, but then there are those like the Cystic Fibrosis Foundation who put these words into action. For decades, this nonprofit has been actively… CONTINUE
How Genetic Disease Families Push Through, Move Forward and Find Answers
Such a sentiment is lived by the millions of individuals and families around the world who go through the genetic condition diagnostic odyssey. Search the news section on any rare… CONTINUE
Prince: A Pfeiffer Syndrome Father
Prince was one of the most successful musicians of all time. For over four decades he created a steady stream of Grammy and AMA award-winning music. Behind his music, his troubled childhood… CONTINUE
Lynch Syndrome Patients Receive V.P. Biden’s Attention
Cancer Moonshot is a new initiative led by Vice President Joe Biden that aims to make additional therapies available to more patients, while also improving prevention and early detection. The program,… CONTINUE
Lauren Potter Has It All… Including an Extra Chromosome!
Lauren Potter, 26, is one of the most famous people living with Down Syndrome (also known as Trisomy 21). Lauren’s role as teenager Becky Jackson on Glee from 2009-2015, brought… CONTINUE
Strangers Give Toddler with Norrie Disease Increased Freedom, Free of Charge
Silus Johnson is a sweet little toddler battling Norrie Disease. Like most little boys affected by the disease, Silus was born blind. Little Silus also has delayed motor skills and… CONTINUE