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By Matthew Santamaria (msantamaria@hdsa.org)

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

New York resident “Sarah” learned about Huntington’s disease (HD) at a young age. 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.

Her grandmother was her best friend and she had a lot of memories of seeing her every day after school. However, her talking was limited as she was diagnosed with the gene that causes HD.

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.

When she was about 3-years-old, her grandmother died. The HD journey would not be over just yet. “Sarah’s” mother was at risk for HD. Every child of a parent with HD has a 50/50 chance of inheriting the faulty gene.

“Sarah’s” mother was an elementary school teacher. She loved her job and educating children. However, she started to have angry outbursts as her and "Sarah” would constantly have arguments. 

According to “Sarah”, she noticed her mother’s mental health was changing. In eighth grade, “Sarah” was in boarding school but still noticed a lot of changes in her mother that her father did not want to believe. According to “Sarah”, her mental problems may have been the reason that her father did not believe her.

Throughout school, “Sarah” had mental health problems of her own. She has suffered with anxiety and trauma issues. “Sarah” has seen more than thirty therapists until finding that made her feel the most comfortable. When she was younger, her mother got her into yoga to ease stress and relaxation. As “Sarah” got older, she started to pick up yoga again which also helped her anxiety issues.

By the time “Sarah” was a sophomore in high school, her mother learned that she tested positive for HD.

Before her family explained the news, “Sarah” did not know what was wrong with her mother as she thought it was Parkinson’s disease. The social worker explained to “Sarah” what was going on with her mother, but the family was extremely private regarding her health.

In her family, HD is barely or if at all discussed. For example, according to “Sarah”, her grandfather felt that the younger generation should not be involved in adult situations, even though this could affect their future with the 50/50 chance. As for her father, he wasn’t in shock about the diagnosis but in denial at first. He also wanted to keep it quiet.

With her mother testing positive, “Sarah” and her other sibling are at risk for HD. “Sarah” wants to get tested for HD before she has children.

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.

“I don’t want my children to have to go through the anxiety I and so many others have about potential positive results,” said “Sarah”.

Even though her mother and her side of the family will not talk about HD, “Sarah” has found her father as an ally to discuss this with. She describes her father as a best friend. He has assisted with HDSA’s Team Hope Walks. Team Hope is HDSA’s largest national grassroots fundraising event. Thousands of families, friends, co-workers, neighbors and communities walk together each year to support HDSA's fight to improve the lives of people affected by HD and their families.

However, her father did not allow his children to be involved with HD events and was not allowed to go to HD youth events. Now that “Sarah” is of age, she wants to be involved as much as she can with events and raising HD awareness. According to “Sarah”, it is important for young people at risk to learn more about HD.
 
“Sarah” has a message for the HD Community:

“You are not alone. Volunteer and be apart of the cause.”

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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