Tuesday, February 28, 2017

Rare Disease Day - Raising Awareness for Kennedy's Disease

Today, February 28, is Rare Disease Day.

Every few days a baby is born with this DNA defect

The defect is in the ‘X’ Chromosome and it makes testosterone almost a poison to the body. The disease is Spinal Bulbar Muscular Atrophy; more commonly known as Kennedy's Disease.

Since there is currently no treatment or cure for this defect, a boy will grow up not knowing when the disease will begin to attack his motor neurons and muscles. Often it begins with painful cramping and uncontrollable muscle spasms. Over time it will attack most of his muscles often making it difficult to even swallow liquids.

As the disease progresses, the motor neurons will begin to die and the muscles will waste away. Eventually, he will have mobility issues and might require a wheelchair. Many will be forced into early retirement and almost every one of them will worry about the financial welfare of his family. Pneumonia will become as feared to him as any disease because of his inability to clear the lungs of phlegm. If he becomes a father, he will live with the knowledge that his daughters are carriers of the defect and could pass it on to future generations of his family.

Even though the defective gene has less of a physical impact on females, they might also experience several of the symptoms later in life.

Fred Briones put together this short video that shows families from all over the world living with Kennedy's Disease. Great job, Fred!

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