My mother made the choice when she knew there could be a possibility of her having Huntington’s disease to get tested back in the early 1990’s. Back then my mother had the linkage analysis test performed that compared her deoxyribonucleic acid (DNA) to the DNA of my grandmother, who was known to have symptoms of Huntington’s disease. The test has evolved over time, and the direct mutation analysis was developed that could be performed without the DNA of another family member with Huntington’s disease. The direct analysis test looks for the CAG repeat expansion with the HTT gene on a person’s DNA. With greater than or equal to 36 repeats being fully penetrated for the disease.
After my mother was tested it was pretty much a waiting game of when she would develop symptoms. What symptoms would she develop? That is the unpredictable factor of Huntington’s. Not knowing what symptoms or when symptoms would appear. I was hoping my mom would be like my grandmother who was able to live at her on home until she was in her late 70’s.
This was not the case for my mother. When she was in her late forties to early fifties, she started to develop very noticeable chorea movements that affected her life. First it started with an occasional facial twitch and arm jerk then it progressed over what seemed to be a very short 1–2-year period. The chorea movements in my mother became very noticeable. Her jerking and constant moving would happen nonstop throughout the day, if she was sitting in her rocking chair, she would be constantly moving her hands, arms and legs. It was nonstop. She ended up quitting her job as a receptionist and started to play organ for church less, because she was embarrassed by her constant movements. Small town Iowa at the time did not understand Huntington’s nor were there any hospitals that were equipped with neurologists that could help her.
My mother decided in 2000 to see a neurologist at University of Nebraska Medical Center in Omaha, Nebraska. My mom and I were hoping that being a research institution, University of Nebraska would be on the cutting edge of medical research and information. We were able to meet with a neurologist that offered some suggestions at that time. One of the recommendations was for my mother to start taking Co-Q10 supplement 200 mg daily, which she did start on. The neurologist thought that Co-Q10 would help to slow the neurological decline from Huntington’s disease. It was a relatively inexpensive supplement, and my mom tolerated it well, so she thought it would be worth giving it a try.
Another drug that was suggested by the neurologist specifically for her chorea movements was tetrabenazine. Tetrabenazine has been available in Canada since 1996 for movement disorders. However, at that time tetrabenazine was not approved by the Food and Drug Administration for use in the United States. The neurologist did say that it was available in Canada at the time and offered to write a prescription if we could find a way to get it from Canada. We opted to take the prescription and do some research on the internet on obtaining the medication for my mom. My mom really wanted the medication, because she felt like her chorea movements were out of control. The chorea movements made her tired, she didn’t sleep well, at times they would cause her to fall, reading and working crosswords were things she enjoyed and with the chorea movements these were not possible. With some internet research we were able to find a pharmacy in Canada that would ship it to my mother if we mailed them her prescription. So, this is what we did.
Tetrabenazine was a game changer for my mother. The movements stopped very quickly after she started on this medication. She was able to read and do crossword puzzles again. She never went back to work, but I don’t think the stress of working again would have been good for her even though mentally she was very much on her game. I don’t really remember that my mother had any unmanageable side effects from the medication at the time. My father passed away in 2001, and my mother was able to live independently in her 2-story house for nearly 10 years.
