Connect with our local chapter:
By Matthew Santamaria (msantamaria@hdsa.org)

South Carolina resident Lisa Metzmeier has known about Huntington’s disease (HD) her entire life.

HD is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. It usually deteriorates a person’s physical and mental abilities during their prime working years and has no cure.

Her grandmother was diagnosed with the gene that causes HD. She had eight children who were at risk of inheriting HD.

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 41,000 symptomatic Americans and more than 200,000 at-risk of inheriting the disease.

Three out of the eight children were diagnosed with HD. Several of Lisa’s cousins have the disease while others are at risk.

Lisa’s mother was one of the children tested positive. This would later result in Lisa and her brother testing positive as well.

The decision to get genetically tested is difficult 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.

Lisa has experienced the symptoms of 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 judgement, involuntary movements, unsteady gait, slurred speech, difficulty in swallowing, and significant weight loss.

“HD has caused me to not be able to work and to have mood changes and memory problems making my days vary hard,” said Lisa.

Lisa has a message for the HD Community:

“I hope for a cure soon so my children will have a chance at life worry free of Huntington's disease.”

###

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. Every 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 41,000 symptomatic Americans and 200,000 at-risk of inheriting the disease. In less than 10% of cases, juvenile Huntington’s disease (JHD) affects children & adolescents. JHD usually has a more rapid progression rate than adult onset HD; the earlier the onset, the faster JHD progresses. HD is described as having ALS, Parkinson’s and Alzheimer’s diseases – simultaneously. HD is characterized by a triad of symptoms, including progressive motor dysfunction, behavioral disturbance and cognitive decline.

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