Huntington’s: The Ugly Gene
I am not a neurologist. I don’t claim to be an expert. I am a nurse practitioner with access to reliable medical facts. I am also a person who has been running from her hereditary for over 30 years. I am a person who has watched my grandmother and mother go through the effects of Huntington’s deteriorating the person I used to know and leaving a shell in its place.
Back in the early 1990’s my mom had the linkage analysis performed and had to have DNA from my grandmother known to have Huntington’s symptoms compared with DNA of my mother who was not having symptoms at that time. My mom tested positive, so we knew about it before she started to show any obvious symptoms.
Currently there is a genetic test that tests for CAG repeat expansion in the HTT gene, with greater than or equal to 36 repeats considered diagnostic and greater than or equal to 40 repeats being fully penetrant for disease. New tests offer rapid testing using blood, saliva, or buccal (cheek) swabs are now readily available.
I have chosen not to get tested at this time, my brother tested and he was negative and at the time of this my sister has also not been tested. My personal thoughts about testing are why test, when there is essentially nothing that can be done to treat or cure it, just take medications to manage the effects of Huntington’s on the body. There is nothing to stop the physical, mental, or behavioral decline. There is not even anything to slow it down.
Huntington’s should not be confused with Parkinson’s or Alzheimer’s; it has its own set of symptoms that are quite unique. Huntington’s causes nerve cells in the body to decay over time. The time can vary if symptoms develop before age 20, the progression can be quicker. While if diagnosed later can have a slower progression.
It seems that for my grandmother and mom, symptoms didn’t really develop until they reached at least their mid to late fifties. Which tends to be rare to develop that late, but good that they lived most of their lives without the decline of Huntington’s.
Most people if they know about Huntington’s, are most familiar with the chorea movements of Huntington’s. They are nonstop movements affecting all the muscles of the body, most notable in the arms, legs, face and tongue. Symptoms can be involuntary jerking, stiff or contracted muscles, slow or unusual eye movements, trouble walking or keeping balance, trouble with speech, and trouble swallowing which can cause choking. This progresses over time and eventually the person becomes bed or chair ridden with no ability to feed or care for themselves.
Cognitive and mental health conditions also exist with Huntington’s. Cognitive symptoms include trouble organizing, inability to prioritize tasks, perseveration (lack of flexibility or getting stuck on thought, behavior or action), lack of impulse control, outbursts, lack of self-awareness of one’s own abilities, slowness in processing thoughts or “finding” words, trouble learning new information. Mental health conditions include social withdrawal, trouble sleeping, fatigue and loss of energy, thoughts of death, irritability, sadness, apathy. Mental health conditions can also include obsessive-compulsive disorder (intrusive thoughts coming back or repeated behaviors), mania (elevated mood and impulsive behavior), bipolar disorder (alternating moods of depression and mania).
Huntington’s disease can progress over a course of 10-30 years depending on age of onset. Most often death is a result of pneumonia or other infections, injuries related to falling, complications related to difficulty swallowing.
I wish I had started journaling about the progression of Huntington’s when my mother was first diagnosed with it, but at that time I was still in denial and didn’t want to think about it. I decided to start journaling when I knew that my sister had it, even there was no confirmed diagnosis. My hope is that others can learn from it and that it will provide me with a sense of peace in a disease in which I have had no control over.
