Fragile X Syndrome

By: Brenna Casserilla

Imprtant Information On Fragile X Syndrome;

This disease can affect your nervous system because the abnormally expanded CGG segment turns off (silences) the FMR1 gene, which prevents the gene from producing FMRP. Loss or a shortage (deficiency) of this protein disrupts nervous system functions and leads to the signs and symptoms of fragile X syndrome.

Fragile x is inherited in an x-linked dominate pattern. The inheritance is dominate if one copy of the altered gene in each cell is sufficient to cuase the condition.

people with fragile x can get signs and symptoms as soon as birth. But after age some people get more signs and symptoms. The signs of this disorder are, long face, large prominent ears, flat feet hyper extensible joints, especially fingers and low muscle tone.

The symptoms are, intellectual disabilities, ranging from mild to severe, anxiety and unstable mood autistic behaviors sensory integration problems, such as hypersensitivity to loud noises or bright lights, also seizures (epilepsy) affect about 25% of people with Fragile X.

There are usually no life-threatening health concerns associated with fragile X

syndrome, so life expectancy is not affected. There is currently no cure for fragile X syndrome, and treatment involves

early intervention and management of symptoms as needed.

Many people aren't that affected by this disorder but it could be a struggle for them if they have learning disabilities and cognitive impairment. This disease can cause a range of developmental problems.

A m\Mother's Story, Rachael's Story.

“All three of our children have fragile X syndrome with the full mutation, and they all have Attention-Deficit/Hyperactivity Disorder. There’s occupational therapy, physical therapy, and speech therapy at school."

“Fragile X is so hard because it’s genetic. We had no idea it was in our family. When Brighton was diagnosed at five, we had Avery tested. She was nine months old. Marc and I didn’t understand the genetic piece and when I learned I was the carrier, I felt like I wanted to die. My dad is a carrier and so are my sisters. So far none of them have children with fragile X, but there’s always that chance. Since I have daughters, I also worry if they’ll have the ovarian insufficiency that can come with fragile X, and if they’ll be able to have children of their own."

The picture above is a picture of her three kids, Joslin, Brighton, and Avery.

To read more about Rachael's story click below;