My mother got tested for Huntington’s disease back in the early 1990’s. My mother knew she had a fifty-fifty chance of having Huntington’s disease. Back then my mother had the linkage analysis test performed for Huntington’s disease. Linkage analysis compared her deoxyribonucleic acid (DNA) to the DNA of my grandmother. My grandmother was known to have symptoms of Huntington’s disease at that time. Huntington’s disease testing has evolved over time. The direct mutation analysis was developed. Direct mutation analysis can 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 for Huntington’s disease it was pretty much a waiting game. When would my mother develop symptoms of Huntington’s disease? What symptoms of Huntington’s disease would she develop? That is the unpredictable factor of Huntington’s disease. Not knowing what Huntington’s disease symptoms or when symptoms would appear. I was hoping my mother would be like my grandmother. My grandmother was able to live at her on home until she was in her late 70’s. Huntington’s disease symptoms did not affect my grandmother until later in her life.
This was not the case for my mother. When my mother was in her late forties to early fifties, she started to develop Huntington’s disease symptoms with very noticeable chorea movements that affected her life. Huntington’s symptoms for my mother started with an occasional facial twitch and arm jerk. My mother’s Huntington’s symptoms progressed over what seemed to be a very short 1–2-year period. The chorea movements in my mother became very noticeable. My mother’s constant moving, twitching and jerking would happen nonstop throughout the day. I would watch my mother 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. My mother 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 familiar with Huntington’s disease at University of Nebraska Medical Center in Omaha, Nebraska. University of Nebraska was a well-known research institution in our area. We met with a neurologist who offered some suggestions at that time. One of the recommendations was for my mother to start taking Co-Q10 supplement 200 mg daily. The neurologist thought that Co-Q10 would help to slow the neurological decline from Huntington’s disease. Co-Q10 was a relatively inexpensive supplement, and my mom tolerated it well.
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. 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. The neurologist wrote 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’s Huntington’s disease symptoms. The movements stopped very quickly after my mother 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. With tetrabenazine my mother was able to live independently in her for nearly 10 years.
