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

The following story features someone who was willing to courageously share their story, but remain anonymous 

During World War II, “Eric’s” grandfather served in the Navy and his grandfather suffered with mood swings before being placed in the Veterans Affairs (VA) hospital for more than thirty years.

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

“Eric” would remember bringing Twinkies to the hospital but he did not see his grandfather much. During this time period, “Eric” did not get a full understanding of what HD was.

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

“Eric” had an aunt who was misdiagnosed with HD. She would live in a garbage dump because she thought the house was bugged by the FBI. The garbage dump was next to a hospital. His aunt would have to wait two years for Medicare benefits.

Senators Gillibrand and Cassidy as well as Representatives Pascrell and Kinzinger reintroduced the HD Parity Act (HR 2770/S 1476) in 2021. Without passage of the HD Parity Act, patients with HD will continue to suffer the mandated 2-year waiting period for Medicare benefits after qualifying for Social Security Disability Insurance.

During that time period, her mother was battling cancer and taking care of her daughter. It would be a long process just to admit his aunt into a hospital.

“Eric’s” mother began to show signs of HD but was in denial for a period of time. It was not until recently that she confirmed to having HD.

This meant that him and his two other siblings were now at risk. Every child of a parent with HD has a 50/50 chance of inheriting the faulty gene.

Before “Eric” got tested, he would begin to live riskier but also question himself if something out of the ordinary happened. His grandmother did not want him to get tested as she would not be able to forgive herself. “Eric” would describe this period as stressful. Although his grandmother didn’t want him to get tested, “Eric” decided to go through with it.

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.

“Eric” tested negative but he suffered with survivor’s guilt because he felt he had to be more responsible. It would take him years until he showed his grandmother the results of his test as she was happy and relieved. However, there were a few family members that did not want him to get tested that would leave him as an outcast.

He would then marry his childhood sweetheart and have two children. According to “Eric”, his first born was the first known not at-risk child of HD in his family for more than one hundred years.
 
“Eric” has a message for the HD Community:

“It helps to know that HD is not a secret. It is great to have other voices share their experience.”

### 

Huntington’s disease (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 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. Today, there are approximately 41,000 symptomatic Americans and more than 200,000 at-risk of inheriting the disease. The symptoms of HD 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.  

HDSA was founded in 1967 by Marjorie Guthrie, the wife of legendary folk singer Woody Guthrie. Woody died from HD complications when he was only 55 years old, but the Guthrie family legacy lives on at HDSA to this day. 

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