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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. 

Chicago resident “Ashley” observed that involuntary movements were common in her family. This was a symptom that can be described for more than one disease but one fit the match.

It was two years ago when “Ashley’s” grandmother on her father’s side was diagnosed with the gene that causes 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.

However, she was first misdiagnosed as it was the assumption that she had dementia and Parkinson’s disease. “Ashley’s” mother confirmed the suspicion as it was a slow progression but her grandmother still lived a long life. However, the family has been divided regarding the topic 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.

Her family would learn more about HD at Rush University Medical Center. This is one of the 54 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.

“The HDSA Center of Excellence at Rush University Medical Center is amazing,” said “Ashley”. “Every single doctor cares about my progress and treat you like you are the only patient.” 
 

“Ashley” would soon learn that her father was at risk for HD. Every child of a parent with HD has a 50/50 chance of inheriting the faulty gene. However, he decided to not be tested. 

Even though her father did not want to be tested, all three of his children including “Ashley” decided to be 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. 

“Ashley’s” two other siblings tested negative. However, “Ashley” tested positive. According to “Ashley”, she has great support from her mother and describes her as a great influence. “Ashley’s” biggest concern is her father. 

Her father is divorced from her mother as is worried someone is not keeping an eye on him in case symptoms are missed. According to “Ashley”, one of the symptoms that she has noticed is memory loss. 
 
“Ashley” has a message for the HD Community: 

“Educate yourself so you can educate others. Through all the HD stories I have heard, there is a lack of knowledge. People need to understand what HD is and what people go through.”

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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