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

Beth McDow is one of five children and has known about Huntington’s disease (HD) her entire life.

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.

Her great-grandfather had HD as it would soon affect Beth’s grandmother. Each child of a parent with HD has a 50/50 chance of inheriting the faulty gene that causes Huntington’s disease.

Compared to her great-grandfather, Beth’s grandmother developed more symptoms of HD.

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

“She did not accept that she had HD and became very angry,” Beth explains. “Her anger and mood swings were so aggressive that at one point she carried furniture down to the ditch in front of their farm, and she physically fought my grandpa.”

After a number of bad falls, her grandfather made the decision to place her in a nursing home. She lived in the nursing home for more than twenty years.

In 2011, her aunt tested positive for HD as Beth’s father started to recognize signs of him having the disease as well. Beth’s mother noticed signs too.

“My dad’s cognitive skills were slowing significantly, contributing to my dad missing deadlines and no longer able to keep up with timelines at work,” said Beth. “It was not an easy decision to make, but they knew it was time to find out, so they could plan to live with HD or stop worrying about it forever.”

At the age of sixty-years-old, Beth’s father tested positive for HD. Not long after the diagnosis, her brother started to recognize symptoms for himself including loss of balance, falling, and accidents at work.

This led to her brother getting tested for HD.

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.

“For many people, the biggest decision a person at-risk of HD will ever make is to know if and/or when to get tested,” Beth explains. “It’s a very personal question that requires a significant amount of wisdom, maturity, faith, strong support system, and ultimately mental toughness to handle the outcome of the results, especially if he/she tests positive for HD, even without signs.”

At the age of forty-years-old, her brother tested positive for HD as this led Beth to become more aware of early signs for herself.

“For me, after my brother tested positive for HD, I started becoming overly aware of when I would slur my words, lose my balance, and I started becoming paranoid, looking for any indication that I might have it,” said Beth.

In 2014, at the age of thirty-years-old, Beth decided to be tested for HD.

“It became nearly debilitating for me to live not knowing,” Beth explains. “I prepared myself mentally for the worst outcome, planning for my future as if I was positive. I felt an overwhelming obligation to get tested because at that point I had six nieces and nephews that were all at-risk in addition to my three other siblings and two cousins, who have not been tested yet.”

Beth tested negative for HD.

“Knowing I did not have HD was a huge relief, but I always wish it were me instead of my brother.”

Beth continues spreading HD awareness as she feels it is not mentioned enough in the media and people are not talking about it as much as they should. She is encouraging people to do something about it and make their voice known.

“Knowing from experience, I think, in many ways, HD wasn’t talked about because of fear and shame. That is why it is even more important to TALK ABOUT HD! It is no longer hidden. It is no longer a disease that we as a collective HD Family should ever feel shame, fear, helplessness, unsupported, alone, rejected, or simply not enough. Our community is strong because we love deeper than any fear or shame could ever survive! I am no longer ashamed of being part of an HD Family!”

###

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. Each 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 30,000 symptomatic Americans and more than 200,000 at-risk of inheriting the disease. The symptoms of Huntington’s disease 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.

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