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By Matthew Santamaria (msantamaria@hdsa.org)

Twenty-four-year-old Wisconsin resident Abigail Kane knew very little about Huntington’s disease (HD) and the affect it would have on her 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.

When Abigail was in high school, her parents got divorced as her mother became to act different.

“To say HD tore my family to pieces would be an understatement,” said Abigail. “Nobody knew what was going on or how to fix it. Nobody knew how to help my mom or speak to her without anger. There were endless relationships ruined. Words being said out of her mouth that sounded nothing like my mom, different obsessions, and slurred speech.”

A few years later, her aunt decided to get 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.

Abigail’s aunt tested positive for the gene that causes HD.

“HD was small talk in our family for a little while before this,” said Abigail. “Nobody really knew what that meant for our family as a whole, besides for my extremely well-educated older sister who was the first to tell me what this meant for our future as well.”

Abigail’s grandfather had the HD gene but passed away due to cancer before the symptoms could progress. 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. Symptoms include personality changes, mood swings, impaired judgement, involuntary movements, slurred speech, difficulty in swallowing, and significant weight loss.

When Abigail was a sophomore in college, her mother decided to get tested for HD and tested positive for the gene that causes HD.

“I walked into the back room to see my Mom with her face down crying shaking her head yes,” Abigail explains. “I never knew that morning that later that day my whole life was going to be changed. I often refer to my life as “before HD” and “after HD” because I would be lying if I said I have ever gone back to feeling the way I did that morning before the doctor read my mom those numbers.”

As the weeks went on, her mother felt relieved that she finally understood what was going on with her. Abigail just wished that she knew more about HD years ago.

“Some days I feel lucky to have gone twenty years not knowing, and other days I am filled with anger in thought that my family could’ve prevented so much and we could have had things in order for her,” said Abigail. “This disease has left her alone besides for her children. She remains hopeful, but she never deserved this kind of life. HD does not care what it takes and it keeps taking until there is nothing left.”

Over the years, people around Abigail’s mother thought she was drunk as they were uneducated of the symptoms of HD. Her mother had a master’s degree and was losing jobs. She was unable to get a job in her forties.

“She once had a client walk out on her screaming “YOU ARE DRUNK” during a massage while she was a massage therapist for a short amount of time,” said Abigail. “She wasn’t drunk, she had a neurodegenerative disease. Do you know how frustrating that is for someone to hear who has been thirty-one years sober and the healthiest person you have ever met, someone who to this day still will not even take Tylenol for her health?”

Abigail does not ignore this. She stands up for her mother as she is always there for her through thick and thin.

“I am her voice as she is losing hers,” Abigail explains. “Every time someone says to me the way my mom acted or what she did, the constant sinking feeling in my stomach trying to tell them it’s not her fault it is the disease but very few people truly understand what that actually means. My mom is still in denial and then cries to me about the smallest thing like not being able to build a bonfire anymore. I always tell her she makes something so scary into something so beautiful, she makes me less afraid every day to test positive.”

Abigail did not want to sit for a cure. She wanted to contribute and tell her story. She has attended HDSA Team Hope Walks and other HD events. After going to the events, she realized that she is not alone in this battle. Abigail has learned to embrace HD and live her life. Do not let HD control your life.

“I am grateful for a fiancé who has learned about HD who will admit he does not know what I am fully feeling but listens to me and never tells me to feel differently, and watched what it has done to my mom throughout the years and still chooses me, plus his love for my mom is unbelievable,” said Abigail.

Abigail wishes that more people were educated by HD and not quick to judgement.

“I wish everyone knew that HD is not just black and white,” said Abigail. “It is a million things in between that make this disease the devil of all diseases and how hard it is to explain that to people on the outside. You are constantly grieving someone who is standing right in front of you.”

Abigail has a message for the HD Community:

“HD may be rare but what comes with HD are people who are optimistic, people who take care of their loved ones, people who never give up hope, the kindest people I have ever met and who listen to everyone, people who still live their life each day with a smile even though there is a huge dark cloud always hovering above us, and to me that is rare. I hope I am able to make people new to HD feel the way you have all made me feel. I am always available for anyone who needs to talk, and will remind you that you are not alone.”

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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. 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