A Teenager’s Life With Usher Syndrome, a Rare Disease

According to a story from klfy.com, 15 year old Mia Braseaux may seem like a normal teenager; she plays sports, goes to school, and socializes with friends. However, Mia was diagnosed with rare Usher syndrome as a baby, which may make things much more difficult for her in the future. The defining characteristic of the syndrome is progressive loss of hearing and vision. While you couldn’t tell just from looking at her, the disorder impacts her from the moment she starts her day:

“Every morning I have to go in her room and I have to physically tap her to wake her up.” – Brooke, Mia’s mother

About Usher Syndrome

Usher syndrome is the leading cause of deafblindness (the state of being both blind and deaf); however, the disorder is still generally rare. The syndrome is currently incurable and there are three different types. There are a total of 11 different genes that, if mutated, can cause the disorder. Usher syndrome type 2 is characterized by milder hearing impairment and delayed onset of vision decline. It is linked to mutations of the DFNB31, USH2A, and GPR98 genes. This type may be more common than previously thought and many patients may be undiagnosed. Vision loss is linked to retinitis pigmentosa, in which the retinal cells degenerate over time, and hearing loss is due to defects of the inner ear. There is no known treatment that can stop the progression of symptoms; gene therapy may be the most effective avenue for research. The rate of disease progression can vary drastically from person to person. To learn more about Usher syndrome, click here.

Facing Challenges, Spreading Awareness

Mia also needs special accommodations at school to compensate for her vision and hearing challenges. Cochlear implants, which she received as a baby, have helped maintain her hearing.

Mia and her mother are facing the challenges of Usher syndrome firsthand, and now they are hoping to give back to their rare community by spreading awareness about the disease. They are involved in the organization Ush One See, a nonprofit organization dedicated to fundraising for research/treatment and spreading awareness.

On September 17th, Ush One See is hosting its yearly 5K fundraiser. Click here to learn more.

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