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By Matthew Santamaria (msantamaria@hdsa.org) 

North Carolina resident Sarah Foster’s entire family has gone through 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.

Sarah’s mother, grandmother, uncle, and aunt have all tested positive for the gene that cause HD. Sarah also tested for the disease.

The decision to be 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.

The results came back and Sarah tested positive. Symptoms of HD, described as having ALS, Parkinson’s and Alzheimer’s diseases – simultaneously.
 

“HD throws depression, obsessive thinking, paranoia, temper tantrums, fatigue, and more at me every day and I do not know what is coming when I wake up each day,” said Sarah. “My symptoms are moving targets and we have learned that it is best to be equipped to deal with all of them. What is my reality one day may change the next. That is one notion that keeps me from committing suicide: those feelings are not facts and that they are transient.”

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

“It’s frustrating to tell other people about it because they don’t realize how much worse mine is and how what they say minimizes and negates my experience,” Sarah explains. “I first noticed trouble with my short-term memory. That has gotten worse. I cannot remember people’s names, what happened a few minutes ago. I struggle with cognitive and psychiatric symptoms, and I am starting to have difficulty keeping my balance and swallowing.”

For the first five years after the test results, Sarah was struggling with the positive diagnosis.

“I searched for research opportunities and online support but at the same time I gave in to the dark side of HD. I let it win before it truly had the upper hand,” Sarah explains. “Now I wish I could turn back time and live those days more fully, now that it is indeed barreling down the tracks. I am like, oh shoot; I thought five years ago was bad! I did not appreciate five years ago enough.”

Research is very important to Sarah as she wants to be educated about the disease because she has three children at risk. Every child of a parent with HD has a 50/50 chance of inheriting the faulty gene that causes Huntington’s disease.
 

“So now, it is about appreciating,” said Sarah. “When I fall down the back stairs and get road rash and cuts, I am thankful I did not break any bones. When I am disproportionately angry with my son, I am grateful that I am still lucid enough to apologize and that he is enlightened enough to accept my apologies. When I have a debilitating anxiety attack, I am grateful that I can hear my son and husband’s voices throughout, supporting me. My psychiatrist knows what he is doing and cares.”

Sarah has praised the care she has received from Duke University as well as helping her live the best possible life. This is one of the 50 HDSA Centers of Excellence that provide an elite team approach to HD care and research. Professionals have extensive experience working with families affected by HD and work together to provide families the best HD care program.

 



“Routine is very important in my life,” Sarah explains. “Something as simple as being able to go to my favorite coffee house every morning empowers me and gives me joy. Every day, HD presents itself in a different way and I make the daily decision to face it. Some days are more successful than others are.”

Sarah is a disabled special education teacher with a part time job as a from-home technical copy editor.
 
She has not stopped living her life and has a message for the HD Community:

“I am striving to embrace my beloved family and caregivers fully that I can, while I can. In the end, for me, it is not the bucket list items or the blog stats that matter. It is my relationship with these people. People who also got the life they did not expect or deserve. I have learned that they feel everything I feel and have separate coping experiences that are every bit as important as mine are. On top of that, they are trying to live some semblance of satisfying lives themselves. Anything I can do now to help them while I can will be my true legacy... my true definition of happiness and fulfillment.”

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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. 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