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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 

Washington resident “Nel” has known about Huntington’s disease (HD) since an early 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.

“Nel’s” grandmother developed late onset symptoms of 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.

She had six children including five boys and one girl. Every child of a parent with HD has a 50/50 chance of inheriting the faulty gene.

“Nel’s” aunt was diagnosed with the gene that causes HD. “Nel’s” father and uncle also had HD. "Nel" has cousins that also have HD. “Nel” described the family as divided with HD playing a role with some believing the symptoms were HD but others disagreeing. According to “Nel”, her mother took care of everyone.

“Nel’s” father did not develop symptoms until he was in his fifties. His main symptoms included emotional outbursts.

“Nel” found the best way to calm him down was music therapy, music is used within a therapeutic relationship to address physical, emotional, cognitive, and social needs of individuals. According to “Nel”, one night was extremely difficult as “Nel” would sing “Baby Blues” to calm him down. 

“Nel’s” uncle also dealt with violent outbursts as he would avoid his family and went to jail. “N’s” uncle also wanted to smoke all the time as was mad when he did not have a cigarette in his hand. According to “Nel”, it took a while to get healthcare, but Roger Carnes helped the family and “Nel’s” uncle was later placed in a nursing home. He has went above and beyond for the family. To learn more about Roger Carnes and the families he has helped, click here.

“Individuals with HD may want to separate themselves,” said “Nel”. “Fight for each other. Family needs to always be there through the good and bad times.”

“Nel” was one of the caregivers as “Nel” described it as having scary and happy moments. According to “Nel”, there is no black and white with HD as only people in the HD community can utterly understand. There was an incident at a hospital where the doctor did not know what HD was.

“Sometimes you want to scream,” “Nel” explains. “Take a moment for yourself.”

There was another incident that involved “Nel’s” cousin being pulled over because the police officer thought the cousin was drunk but had symptoms of HD.

There have been documented cases of people with HD having difficult interactions with law enforcement because their symptoms are misidentified, misunderstood, or mishandled. To read more, click here.

“Nel” and her brother have decided to not get tested. 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.

“Nel” does not want to think about HD everyday and not have life revolved around HD. "Nel” wants to live life to the fullest.
 
“Nel” has a message for caregivers in the HD Community:

“Find small ways to make them happy. This is not just a community but a family. We can do this together. One moment, one day, and one step at a time.”

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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