New Hampshire resident Kathleen Shepherd always had her father as a positive role model that she can always count on.
In high school, her grandfather was diagnosed with Huntington’s disease (HD). This 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. While she was in college, her grandfather passed away due to HD complications.
“As the oldest cousin, I went with my father and aunts to meet with my grandfather’s neurologist for an information session,” said Kathleen. “It was there that I learned the basics.”
Kathleen and her father would learn that every child of a parent with HD has a 50/50 chance of inheriting the faulty gene that causes HD. According to Kathleen, she did not worry about HD yet due to her age and her father did not show any symptoms.
HD is described as having ALS, Parkinson’s and Alzheimer’s diseases – simultaneously. Symptoms include personality changes, mood swings, depression, forgetfulness, impaired judgement, unsteady gait, involuntary movements, slurred speech, difficulty in swallowing, and significant weight loss.
“My father had joined an HD study while still physically asymptomatic,” Kathleen explains. “He was later diagnosed based on cognitive symptoms and some physical changes we had not yet noticed, or perhaps did not want to notice.”
Once she graduated college, it started more than a ten year of struggle of whether 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.
“One of the main reasons I had not wanted to be tested was because I was not sure I could handle telling my father if I tested positive,” said Kathleen. “My dad has always been very positive about living with HD, and I know it would not be his fault if I was positive, but I didn’t want to have to tell him that, through no fault of his own, I had inherited the HD gene from him and would eventually become symptomatic.”
Another reason she got tested was to plan for her future family. According to Kathleen, if she tested positive, she would pursue Pre-implantation Genetic Diagnosis (PGD) testing with her future husband. PGD testing can be used with In Vitro Fertilization (IVF) that makes sure any fertilized egg implanted does not have the abnormal gene.
“My now husband and I knew that I did not want to have children without knowing my gene status,” said Kathleen. “I had decided I would pursue PGD if I tested positive. Knowing that I had that option helped me decide to get tested.”
In 2014, she decided to get tested for HD with her father by her side through it all.
“I talked with my dad about being tested. He reacted like I should have known he would,” Kathleen explains. “He focused on the positive and said that if I tested positive, we would handle it together. Of course, we would because that is what families do. My dad knew he was strong enough to support the both of us if he had to.”
After going through the process, she waited more than four weeks for the results. Once the results came in, she was negative.
“When the day finally arrived, I didn’t think I could wait one more second to hear my results,” said Kathleen. “Luckily, with my dad by my side, I received my negative test results. We both cried tears of joy. The sense of relief I felt for my dad to know that I had not inherited HD from him was indescribable. Being tested was one of the hardest, if not THE hardest decision, I have ever made. It is a deeply personal decision to be tested and one that I believe can only truly be understood by others at risk for HD.”
Currently, her father is the end stages of HD. According to Kathleen, her father went from a positive person to becoming angry and confused. There have been times where his aggression has been overwhelming. However, at the end of the day, Kathleen knows that is not her father and it is just HD.
“Having my dad thank me for letting him hold my son, his first grandson, was heartbreaking,” Kathleen explains. “He knew his arms would not allow him to hold his grandson for long, but I was able to give him that moment. HD may take away our future together, and I feel very robbed of that, but it can never take away all the good times we’ve had.”
Kathleen and her family have been involved in the HD community to show that nobody is alone in this fight. In 2015, she ran the New York City Marathon for Team HDSA. She has also ran two half marathons.
“My father had begun working at Fenway Park and so we hosted several fundraising events there over the years,” said Kathleen. “We went to every event we could in Massachusetts that was hosted by HDSA. It felt like we were really making a difference with spreading awareness and raising funds for potential treatments. My sister created an event called Rock For A Cure which showcased local musical artists, along with auction and raffle items.”
Her stepmother was the President of HDSA’s Massachusetts Chapter (now Massachusetts & Rhode Island Chapter) board and her aunt organized the Boston Team Hope Walk at Castle Island. Team Hope is HDSA’s largest national grassroots fundraising event. Thousands of families, friends, co-workers, neighbors and communities walk together each year to support HDSA's fight to improve the lives of people affected by HD and their families. To learn more, click here.
Kathleen has a message for the HD Community:
“You are not alone. Even though HD progresses very differently in each individual, someone out there can share your experience. If we all share our experiences with HD, even the unpleasant ones, we will be able to help the entire HD community. That is all my dad ever wanted, to help the HD community. Knowing that I can continue doing that for him helps me get through the bad days. My fight did not end when I tested negative, nor will it end with my father’s passing. It will not end until there is a cure.”
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 firstname.lastname@example.org