Fragile X is one of the least understood genetic disorders that can affect children today. We know that it happens with a change on the FMR1 gene and it can be diagnosed with a DNA test. When present, it has tremendous learning and development disabilities that exist and there is a certain fragility to the human body as well. Men and women can both get this syndrome, but it affects women to a much milder extent. Here are some more important facts about FXS.
1. Get Started Early
Even if Fragile X Syndrome is just suspected instead of diagnosed, it is important to seek out early intervention services as soon as possible. Those who can begin receiving therapy services before their third birthday have a better chance at leading what would be considered a more normal life.
2. It’s Not Just a Childhood Disorder
Fragile X syndrome doesn’t always just appear in childhood. It can also cause problems in adults, even when regular Fragile X symptoms haven’t displayed themselves. It can create tremors and ataxia, which means people can develop balance and memory issues. There are also some other neurological symptoms that may occur with later onset issues as well.
3. There Are Several Co-Existing Conditions
If someone has FXS, then it is not uncommon for other conditions to present themselves as well. It is very common for children with this syndrome to have some form of ADHD present. All men with the disorder will have at least some form of an intellectual disability, but only 1 in 2 women with the disorder will face the same issue. A diagnosis of Fragile X syndrome also brings with it a 67% chance of an autism spectrum disorder diagnosis as well.
4. It’s In the Genes
The reason why boys have a more difficult time with this disorder than girls is because of the genetic make up of the genders. Boys have a XY setup going on, but girls have an XX setup. When there’s a fragile X chromosome, girls have a second one that they can fall back upon and this is why their symptoms tend to be milder. Boys need that X chromosome because they don’t have a backup and that’s why 100% of them with FXS experience issues.
5. You Can Have It But Not Have It
It is possible to possess the gene modification that causes Fragile X syndrome and not experience any of the symptoms of the disease. If this happens, then a person becomes a carrier and this will create a higher risk of passing it onto a child.
6. There Is No Cure
Although there are treatments that are in human trial phases, there is no actual cure for this genetic disorder. Medications are used to treat symptoms and therapies are used to help with walking, talking, and social interactions. Anti-seizure medication is also pretty common.
Fragile X syndrome presents some challenges, but having a child with FXS can also be rewarding. Know the facts and you’ll be able to help families in your area who may need some supports.