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Fragile X, NOT Fragile Faith

For many people, July is just another month of the summer, but for many families around the world, it is a month set aside for the nation to recognize a rare condition that impacts them. July is National Fragile X Awareness Month, and in July 2000, July 22nd was designated as National Fragile X Awareness Day.

Even right here in Chattooga County, July is a month of accelerated advocacy for Fragile X Awareness. Right here in Chattooga County, there are several individuals who have a Fragile X Syndrome diagnosis, and others who are Fragile X Carriers.

Among those who have a Fragile X Diagnosis, Mason Greene-Burke, Braylen Greene-Burke, and Xander Espy are FXS warriors, and they are all three unique in their own ways!! Kelsey Ray Ellis, Haven Greene-Burke, and Chrell Greene are just a few of the known Fragile X carriers in our community.

Fragile X syndrome is considered a rare disease, but the Fragile X premutation is not rare.

So, what does this mean? Fragile X is a group of genetically inherited conditions associated with an alteration in the MRI gene on the X chromosome. These alterations are known as CGG repeats, and depending on the size of the alterations, someone may have one of two diagnoses: Full Mutation known as Fragile X Syndrome, or Premutation (also called a partial mutation). Eragile X Syndrome is caused by a full mutation on the FMRI gene (<200 CGG repeats) that can cause intellectual disability, behavioral and learning challenges, and various physical characteristics.

It is also the most common genetic link to autism. Individuals with the Fragile X premutation (55-200 CGG repeats) have a partial mutation on the FMRI gene. These individuals are known as “Fragile X carriers”, someone who has inherited an altered form of the gene and shows no effects of that mutation but is at risk of developing other conditions.

While July may be National Fragile X Awareness month, many families like the ones listed above live with and advocate every single day for awareness and education of what Fragile X is and what it means.

There are many challenges that can come with a Fragile X diagnosis, but the families of Chattooga County that are impacted live through faith, resilience, and trust in God’s divine plan for them and their children’s lives.

They may have Fragile X, but they do not have fragile faith.

 

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