Huntington’s Disease: The Ugly Gene
I am not a neurologist or an expert on Huntington’s disease. As a nurse practitioner with access to reliable medical facts about Huntington’s. 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 disease. Huntington’s deteriorated the person I used to know and leaving a shell in its place.
Huntington’s Disease Testing
Back in the early 1990’s my mom had the linkage analysis test for Huntington’s disease performed. The linkage test required the DNA from my grandmother known to have Huntington’s symptoms. The test 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 genetic testing for Huntington’s tests for CAG repeat expansion in the HTT gene. Greater than or equal to 36 repeats of HTT gene is considered diagnostic for Huntington’s. Greater than or equal to 40 repeats being fully penetrant for Huntington’s disease. New Huntington’s disease tests offer rapid testing using blood, saliva, or buccal (cheek) swabs are now readily available.
I have chosen at this time is not to get tested for Huntington’s disease. In my mind why test? There is no cure for Huntington’s disease. Huntington’s disease treatment at this time are medications to manage the effects of Huntington’s on the body. Nothing can stop the physical, mental, or behavioral decline of Huntington’s disease. There is not even anything to slow down the progression of Huntington’s disease. My brother chose to have Huntington’s testing, and he was negative for Huntington’s gene. At the time of this writing my sister has also not been tested for Huntington’s disease.
What Huntington’s is:
Huntington’s should not be confused with Parkinson’s or Alzheimer’s. Huntington’s has its own set of symptoms that are quite unique. Nerve cells start to decay over time with Huntington’s. The time can vary Huntington’s symptoms develop. If symptoms develop before age 20, the progression can be quicker. While if diagnosed at an older age can have a slower progression.
Huntington’s disease symptoms for my grandmother and mom didn’t really develop until they reached at least their mid to late fifties. Late age development of Huntington’s disease tends to be rare. However, I am glad that my mother and grandmother lived most of their lives without the decline of Huntington’s.
Huntington’s Symptoms
Most familiarity with Huntington’s, are the chorea movements of Huntington’s. Chorea 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. Symptoms progress 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 can 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 from Huntington’s is a result of pneumonia or other infections. Other causes of death from Huntington’s are injuries related to falling and 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. However, back then 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.
Resources:
Huntington’s Disease Society of AmericaHuntington’s Disease Society of America
