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

Ten years ago, Indiana native Sara Smouther was twenty-five-years-old and living in Columbus, Ohio. Sara was working full time at an Educational Publishing company but was also at risk for 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. In 2002, her father passed away due to complications from HD. Her grandmother previously passed due to complications from HD as well. Sara and her two sisters, Lindsay and McKenzie, are at risk of inheriting HD. 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 family began to recognize early signs of HD when Sara’s coordination began to decline. For example, during an awards ceremony, she tripped and fell in front of her colleagues as she was about to receive an award. According to Sara, she blamed the fall on the shoes she was wearing.

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 weight loss.

Sara would have a series of fender benders while driving. She would also lose her train of thought, difficulty managing personal finances, impulsive behavior, and having difficulty learning new technology and procedures at work.

With all of this, she decided not to get tested at this time because she wanted to live her best life. In 2014, Sara got married.

However, her difficulties at work and driving continued which led to her getting tested for the disease before they started to have children.

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.

Sara tested positive.

For the next two years, she began to adjust to the reality that she was not able to drive or work. She also decided not to have children.

In 2016, her life continued to change. Sara was going through a divorce and was attempting to move into her own apartment close to Lindsay, also her healthcare and financial power of attorney at the time.

However, she made unsafe decisions but still wanted her independence. This led the family to move Sara into an assisted living facility near Carmel, Indiana so she is close to her mother. Since 2016, she has lived in three different facilities.

With the help of her legal guardian, Terri, Sara receives the best medical care possible. Currently, she sees a neurologist, psychiatrist, and general practitioner at the Indiana University Medical Center. This is one of the 47 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.

Since her diagnosis, Sara wants to become an inspiration for the HD Community. She has attended events for HDSA’s Central Ohio Chapter and HDSA’s Indiana Chapter. Sara is an active member of online HD Communities, helping to support and educate other HD positive adults.

In 2017, Sara got a tattoo on her left wrist which reminds her to stay positive, live her life to the fullest, and embrace every moment of every day. It reads “Embracing My Dance”. This refers to the history of HD being referred to as St. Vitus’s dance.

###

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