What Is Huntington’s Disease?

There is an obviously terrifying reality behind being diagnosed with a fatal genetic disorder. Yet, there is an even more terrifying reality of passing such a disorder onto one’s children―especially when that chance is fifty-fifty.

This is the exact situation that the Pryce family faced when Jim Pryce was diagnosed with a rare neurodegenerative disorder―Huntington’s Disease.

Huntington’s Disease occurs when a mistake is present on the huntingtin gene of DNA, causing the same three CAG bases to be repeated many more times than normal. For those without Huntington’s, the codon (group of three bases) repeats from 10 to 35 times; for those with said disorder, the codon can repeat more than 120 times. This error damages the brain and leads to symptoms of Huntington’s.

Essentially, the disorder leads to death, usually about ten years after the onset of symptoms. Symptoms usually begin to develop during adulthood, from ages 30 to 50, although there are cases where Huntington’s can occur in children and adolescents. These symptoms may consist of deterioration of a person’s physical and mental abilities.

Jim Pryce began to face these symptoms 15 years after he and his wife, Barbara, expected twins who would soon be named Kim and Kelly. He was growing to be irritable, to the point where Barbara made them both attend marriage counseling. Once their counselor noticed the intensity with which Jim’s hands were shaking, he decided to get tested for Huntington’s.

The test came back positive, leaving his twins and his two other daughters, Tracy and Erin, also having a 50% of developing Huntington’s due to the nature of the disease. According to the Johns Hopkins article, “It’s a flip of a coin… Heads, you’re facing a progressive, life-threatening brain disease that you can pass on to your kids. Tails, you’re OK.”

These children feared that they’d die of this disorder or, even worse, pass it on to their kids―so they got tested. Thankfully, Kim, Kelly, and Tracy tested negative for Huntington’s. Erin, sadly, tested positive.

However, a life-threatening diagnosis like such motivated Erin to spread awareness about Huntington’s and raise money for a possible cure in the future. Erin and her sisters are using their experience with this disorder in a positive sense, to hopefully contribute to a very promising future cure to avoid others needing to go through what they went through.

Works Cited:

Huntington’s Disease of America Writers. “Overview of Huntington's Disease.” Huntington’s Disease Society of America, 2021.

Johns Hopkins Huntington’s Disease Center of Excellence. “Huntington’s Disease: The Pryce Sisters’ Story.” Johns Hopkins Medicine, 2021.

Your Genome Writers. “What is Huntington’s disease?” Your Genome, 2021.

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