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By Matthew Santamaria (msantamaria@hdsa.org)

Long Island resident Jennifer Caroccia and her family knew very little of Huntington’s disease (HD).

HD 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.

Her father was a correctional officer. However, he was having trouble driving and was becoming very confused. He went through testing at North Shore hospital.

Jennifer’s aunt then talked about HD and explained to the family what it was. There was a relative that decided to take their own life. It became clearer that her father was diagnosed with the gene that causes HD.

The symptoms of Huntington’s disease are described as having ALS, Parkinson’s and Alzheimer’s – simultaneously. Symptoms include personality changes, mood swings, depression, impaired judgment, forgetfulness, unsteady gait, involuntary movements, slurred speech, difficulty in swallowing, and significant weight loss.

As her father was suffering with more of the mental symptoms of HD, Jennifer had a young child at the time. She wanted to be tested for HD if she wanted to have more kids.

The decision to get genetically tested is difficult to make. Each year, 5-10% is 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.

Jennifer tested negative for the gene that causes HD.

Jennifer was the lucky one in the family. Her brother tested positive for the gene that causes HD. He is one of the six out of eight children in the family that tested positive. This has made Jennifer interested in learning more about HD trials.

Through clinical trials, researchers are testing news ways to detect, treat, and prevent HD. With HD Trialfinder, it is a free and easy-to-use clinical trial matching service that connects individuals with HD, caregivers, healthy volunteers, and physicians with current studies.

For more information about HD Trialfinder, click here

On Long Island, Jennifer and her family could not find medical centers that can assist with HD. This led the family to go to a Laurel Lake Medical Center in Massachusetts. According to Jennifer, the center has provided excellent care for her family.

Currently, her brother is an assisted living center in Catskill as he is in the middle-late stages of HD.

Jennifer has a message for the HD Community:

"The day I learned I was negative for the HD gene was the day I promised myself to become the family leader and advocate for HD awareness. I made it my mission to educate family members who may be affected about their options. I am currently planning my first attendance to the HD convention in New Orleans and will continue to walk to raise awareness in my father’s name."

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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