BENEFITING: National Fragile X Foundation
EVENT DATE: Jun 01, 2013
Fragile X Syndrome is the most commonly inherited cause of intellectual disability. The FMR1 gene on the X chromosome is responsible for the deficiency of the FMRP (Fragile Mental Retardation Protein). Symptoms can include: learning difficulties, autism, severe anxiety, seizures in 20-25% of boys, attention deficit, and hyperactivity. FX affects 1 in 4,000 boys and 1 in 6,000 girls. FX is carried by 1 in 260 women and 1 in 800 men. A woman who carries the gene that causes an X-linked condition has a 50/50 chance of passing it to a child, whether it is a son or daughter. This is because she has two X chromosomes, and she passes one or the other for a son or daughter. A man with the same X-linked gene passes it to all of his daughters and none to his sons. This is because he passes his only X chromosome to his daughters and his Y chromosome to his sons.
Charlie, who is 6 years old and Mason, who is 3 years old had genetic testing which led to the discovery of our Fragile X diagnosis just last September. The range of ability varies from mildly affected to severe. Early intervention is crucial! We have come a long way! While developmental delays may cause the boys to adapt to learning on a different level, we are proud of the fact that they are continuing to learn daily! Behavior and potty training remain difficult. The inability to express themselves seems to be the determining cause of acting out at times. They also get overstimulated which makes going places very challenging. We thank you in advance for your contribution. Research and early intervention really play a role in whether our children and other children with Fragile X can live independent lives.