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By Matthew Santamaria (msantamaria@hdsa.org)

Before 2000, Crystal Collinsworth and her family lived a normal life in Northern Kentucky. Then, their world turned upside down.

Her grandmother was diagnosed with the gene that causes Huntington’s disease (HD). This is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. It deteriorates a person’s physical and mental abilities usually during their prime working years and has no cure.

“We had no idea what we were up against,” said Crystal. “As she declined, my daddy, daughters, and other family members cared for her. She eventually became completely bed ridden.”

As Crystal learned more about HD, she knew that her father was at risk. If he tested positive, then Crystal might have it as well. Each child of a parent with HD has a 50/50 chance of inheriting the faulty gene that causes Huntington’s disease.

In 2007, her father tested positive for the gene that causes HD. That next year, her grandmother passed away due to complications from HD.

“Evidently, he had been symptomatic for some time but we were unaware. He showed different signs than my grandmother did.”

The symptoms of Huntington’s disease are described as having ALS, Parkinson’s and Alzheimer’s – simultaneously. Today, there are approximately 30,000 symptomatic Americans and more than 200,000 at-risk of inheriting the disease.

Symptoms include personality changes, mood swings, depression, impaired judgement, involuntary movements, slurred speech, difficulty in swallowing, and significant weight loss.

In 2013, Crystal’s father took his own life.

“It changed me and my life forever. It was nothing short of total devastation. I’m a writer and photographer and I do most of my work under the pseudonym “Crys James”, in honor of my daddy, James Michael.”

In 2017, Crystal decided to get tested for HD.

The decision to get genetically tested is a difficult choice to make. Each year, 5-10% are tested. It is never the right or wrong decision to be tested. There are people that see no benefit in knowing that they will develop the disease while others want to know in order to make informed choices about their future. It can take up to several weeks to receive your results from the genetic testing center.

Then, the results came back. Crystal tested positive.

“I am in the beginning stages of the disease. I'm experiencing some memory loss, clumsiness and Parkinson's type symptoms in my feet and hands.”

Even though Crystal tested positive, she had a sigh of relief. Her daughter got tested that same year and tested negative. She and Crystal’s grandsons will never have to worry about inheriting HD.

When the time comes, Crystal knows that she has backup in this battle.

“I have an amazing support group and I know they’ll be there when times get difficult.”

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Huntington’s disease is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. It deteriorates a person’s physical and mental abilities usually during their prime working years and has no cure. Each child of a parent with HD has a 50/50 chance of inheriting the faulty gene that causes Huntington’s disease. Today, there are approximately 30,000 symptomatic Americans and more than 200,000 at-risk of inheriting the disease. The symptoms of Huntington’s disease are described as having ALS, Parkinson’s and Alzheimer’s – simultaneously.

The Huntington’s Disease Society of America is the premier nonprofit organization dedicated to improving the lives of everyone affected by HD. From community services and education to advocacy and research, HDSA is the world’s leader in providing help for today and hope for tomorrow for people with HD and their families.

To learn more about Huntington’s disease and the work of the Huntington’s Disease Society of America, visit www.HDSA.org or call 1(800)345-HDSA.

​This is a story featuring a personal experience with Huntington’s disease. If you would like to have your story told please contact Matthew Santamaria at msantamaria@hdsa.org