You may not have ever heard of it, but, Fragile X is a developmental disorder that can be diagnosed before your baby is even born.
Vicki Davis, mother of Fragile X patient Holly, told Ivanhoe, “I had to prepare myself mentally and emotionally for the most severe affected child.”
Holly’s mom was told her little girl had Fragile X while she was still in the womb. It’s a mutation of a gene on the X chromosome that leads to a lack of protein production, critical for development.
Neuroscientist and Neurologist at Washington University in St. Louis, Azad Bonni, MD, PhD, explained, “The mutations that happen in this gene that causes Fragile X syndrome, is the most common inherited single gene cause of autism.”
Now, researchers at the Washington University School of Medicine have identified a potential target for treatments for Fragile X carriers. Dr. Bonni said, “In the brain, nerve cells communicate with each other by synapsis.”
Dr. Bonni found that a problem on the X chromosome causes a gene, called FMR1, to stop making a special protein that helps the nerve cells talk to one another. Now that researchers know this is happening, they can find a way to turn on the FMR1 gene to make the protein. The results could be life-changing.
“Reduce the symptoms in the carriers. Basically they just have milder versions,” said Dr. Bonni. Giving kids like Holly a chance of growing up without outward signs of Fragile X.
The average age of diagnosis for Fragile X is between three and four years old. Parents usually notice the first symptoms before the age of two. By targeting this protein, it could impact a significant number of the one million women carriers and 320,000 men who carry the mutation in the United States.
Contributors to this news report include: Cyndy McGrath, Supervising Producer; Marsha Hitchcock, Field Producer; Christine Rifkin, News Assistant; Jamison Koczan, Editor and Rusty Reed, Videographer.