Indiana resident Rachel Mullen grew up not knowing the full extent of what Huntington’s disease (HD) can do to a family.
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 during their prime working years and has no cure.
Before Rachel was born, her grandmother was diagnosed and later passed away from HD. According to Rachel, she was told that she had HD but did not know much about HD. Her family members did not speak about HD as she thought it would be too hard to discuss.
Rachel thought about her chances were low of having HD. However, that was not the case. Every child of a parent with HD has a 50/50 chance of inheriting the faulty gene.
By 2018, Rachel’s father started to develop more HD symptoms. At the time, her parents were divorced and he was married to his second wife.
The symptoms of HD are described as having ALS, Parkinson’s and Alzheimer’s – simultaneously. Symptoms include personality changes, mood swings, depression, forgetfulness, impaired judgment, unsteady gait, involuntary movements, slurred speech, difficulty in swallowing, and significant weight loss.
According to Rachel, he started to get into car accidents, chorea, physical symptoms, and angry outburst. As he developed more symptoms, his second wife left him. Close friends told Rachel that they started to see changes for a few years before he went to get 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.
Her father tested positive. This meant that Rachel and her two sisters were now at risk for HD. Rachel is the only one out of the three that was tested for HD. One sister is not ready to be tested while the other sister has down syndrome and her mother decided for her to not be tested. Her brother passed away but it was unknown if he had HD.
Rachel went to get tested at the HDSA Center of Excellence at Indiana University. HDSA Centers of Excellence provide a unique team approach to Huntington’s disease care and research. Patients benefit from a ‘one-stop shopping’ approach to access expert neurologists, psychiatrists, social workers, therapists, counselors, and other professionals who have extensive experience working with families affected by HD and who work collaboratively to help families plan the best HD care program throughout the course of the disease.
For Rachel, it was a very difficult decision as she was weighing the pros and cons of testing. She would try to live a normal life but the constant thinking of HD made her unable to function and want to get tested even more. Rachel praised Indiana University as she never felt pressure while getting tested. She was thankful for how they made sure she understood the testing process and were very patient with her.
The results would come back and she tested positive. This came as a shock to the family, especially to her mother. Rachel’s mother did not see the news coming as it took a while for the news to settle in for everyone.
As for Rachel, she felt more relieved because she did not have to worry about the what if. This would bring her even closer to her father as she would be his caregiver.
Her father always wanted to travel so Rachel made that possible as they went to different scenery areas in the US. She would see first-hand how the symptoms affected her father daily.
While on the trip, she would have to take the keys away from him and would have arguments. They would do some hiking but she noticed people were staring at him. By the end of the trip, she thought he was hiding his symptoms for a long time before even getting tested.
Currently, her father goes for HD care at the HDSA Center of Excellence at Northwestern University. According to Rachel, she made him go to Northwestern University because she was reading about rave reviews regarding HDSA Center of Excellence Director Dr. Danny Bega and convinced him that he was getting the best care in the country.
Huntington’s disease (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 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. Today, there are approximately 41,000 symptomatic Americans and more than 200,000 at-risk of inheriting the disease. The symptoms of HD 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.
HDSA was founded in 1967 by Marjorie Guthrie, the wife of legendary folk singer Woody Guthrie. Woody died from HD complications when he was only 55 years old, but the Guthrie family legacy lives on at HDSA to this day.
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