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By Matthew Santamaria (msantamaria@hdsa.org)

Cobleskill, New York resident Jessica Barr was only a child when she first heard about 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.

When her grandfather was in his late sixties, HD was just one of the many chronic health issues he had which included emphysema, lung condition that causes shortness of breath.

“We thought it was just another thing aging people ended up getting,” Jessica explains. “We spent a lot of time at my grandparents’ house, but he was mostly sleeping by then as he had trouble breathing from emphysema. My mother did not talk to us about the fact that HD was genetic or the possibility that she and her brothers were now at risk of having the gene for this devastating disease.”

In 1995, Jessica was a freshman at the United States Naval Academy when her grandfather passed away in his sleep.

Ten years after her grandfather’s death, Jessica and her siblings never thought about HD. However, that soon changed when were mother started to act different. Each child of a parent with HD has a 50/50 chance of inheriting the faulty gene that causes Huntington’s disease.

“My sisters and my father and I all started noticing behavioral changes in my mom as well as a strangeness in her walk,” Jessica explains. “She is one of the sweetest people you will ever meet but she started getting very short tempered and socially not interacting with others. She just wanted to stay home and not do things…apathy was in full swing. I thought she was going through empty nest syndrome since we were all out of the house at this point.”

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

In 2004, on Christmas Eve, Jessica came home from the Navy. Jessica and her twin sister went on a ride with her father. He explained to them that he thinks he knows what is wrong with their mother.

“I’ll never forget that moment,” said Jessica. “He said “I think she has what your grandfather had. I can tell by her walk.” My twin sister and I looked at each other and were astonished…what was this thing, they called it Huntington’s Chorea when we were kids and what did it mean for our mom? We went home and looked it up on the internet and our hearts sunk and our lives changed forever. We read the symptoms and were convinced that my mom was HD positive and symptomatic. We also quickly came to the realization that we, too, were now at risk.”

Her father explained to them that their mother knew it was genetic but told him that she did not wanted to be tested because there was no cure.

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.

“We decided as a family not to confront her, but to let her tell us when she was ready,” Jessica explains. “For two years we watched my mom struggle with the onset of symptoms. In 2006, after making several mistakes at work, she decided to finally come tell us what we had already known.”

Jessica was at a San Diego Padres game when her father called her. He told Jessica that her mother tested positive for the gene that causes HD.

“My dad took it harder than my mom,” said Jessica. “She was always the caregiver, taking care of everyone before herself.”

In 2007, Jessica resigned her commission as a Naval Officer. She wanted to move back to New York and spend more time with her mother and help her family as her symptoms progress. In 2008, she got married and he accepted that she was potentially at risk for HD. In that same year, they had their first son.

At this point, Jessica has not been tested for HD.

“I thought about getting tested and went so far as to do the genetic counseling in California, but decided not to get tested,” said Jessica. “My twin sister and older sister had also made the decision to not get tested.”

Even though Jessica and her sisters did not know their future, they wanted to be involved in the HD Community. In 2009, she was pregnant with her second child when she held her first HDSA Fundraiser.

“We thought what positive we can do so we reached out to the HDSA’s Upstate New York chapter in Rochester, and they told us Hoopathons are the main fundraiser,” Jessica explains. “We were all basketball players so we thought this was right up our alley.”

That next year, they met others in the local area impacted by HD. Eventually, Dr. Donald Higgins set up a support group at Albany Medical Center. Her mother also enrolled in studies at the center but dropped out. 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.

“Over time our group became bigger, we applied to become an affiliate for HDSA and eventually we became HDSA’s Albany Chapter,” said Jessica.

As she attended more Education Days, Jessica would learn that researchers need more data from HD positive individuals that were asymptomatic. This led Jessica to changing her mind as she now wanted to be tested for HD.

“I had always assumed I was HD positive anyway, why not help in the cure other than fundraising,” said Jessica. “My thought was, if I am HD positive, I am going to be an inspiration and example to my children and be part of the solution.”

However, Jessica could not help with the studies because she was negative for HD. Last year, her twin sister found out that they are identical twins which meant she was negative as well.

“While some may think you immediately are extremely relieved, amazingly I wasn’t,” said Jessica. “My mom, who would have been the most relieved of all, didn’t even know I had been tested and her apathy kept her from saying much at all.”

Her older sister has not been tested yet.

“She is about five to seven years away from the age my mom started showing symptoms….so we wait…we enjoy the time we have together but we wait and we all fear in the back of our minds that we will have to watch another loved one suffer through this pain,” said Jessica.

Currently, her mother is in Sitrin NeuroCare, a nursing home that is skilled in HD. Jessica visits her weekly as it gets more difficult each time see the disease progress.

“Watching her decline is one of the most painful things I have had to endure,” said Jessica. “She has difficulty swallowing and seeing the fear in her eyes when she chokes is heart wrenching. Watching her lose her ability to walk, talk, remember, and her most basic forms of dignity is again, one of the most painful things I’ve had to endure.”

She continues:

“I miss her deeply,” Jessica explains. “I’ve had two of three children with serious health issues after birth and not having her caring self by my side has made it the more difficult. I miss her smile, her encouragement and her love, but I still get glimpses of it when I visit. She’s always happy to see us and enjoys the time we have with her. We make the most of the time we have left.”

Jessica has a message for the HD Community:

“What keeps me going is the families. I want my kids to live in a world where HD is a disease of the past. When I tested negative, I remember our HD group asking me if I was still going to be involved in the affiliate. I was in shock that they would worry that because I was negative, I would not be involved anymore. Instead it just made me more eager to help. It gave me an even bigger purpose, to use my skills as long as I can in order to help eradicate this disease.”

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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