There are few phrases that I type and grimace. Huntington’s Disease (HD) is one of them. As a reader and writer, I am supposed to love words. Those, I hate. Even looking at them on the line above makes me want to wretch.
I thought we were past the possibility of a HD diagnosis. I was wrong. Even now, trying to use typing as a cathartic experience, putting the words on the page brings me pain, not relief. But I feel I must.
There was a conference with the geneticist recently which changed our world, again. The geneticist doesn’t believe I have an issue with the SCN2A protein in my DNA. We were reviewing my case. HD came up, and she dismissed it because in my record it is said that HD was tested for and then dispelled. I corrected the record. The timber of the conference changed. Transferring from the geneticist telling me information, she started interrogating me on how much I knew about HD. Recalling from a few years of research was difficult for me. HD is a horrible killer. The normal life span is 10 years from the point of diagnosis. Stage 3 of 5 is where my symptoms most resembled, then.
Dying from HD was usually from pneumonia. The patient slowly loses their ability to move and speak. Not able to breathe or eat on their own, they aspirate something through their ventilator, catch pneumonia and can relate nothing to their caregiver. Pneumonia seldom has a fever. Pulse Ox reading are always low due to the nature of HD. Thus, no outward signs of pneumonia are present. They just die. Pneumonia is diagnosed postmortem.
That is all I remember about HD. The geneticist didn’t offer any more. She requested that as many of my family and myself get tested for the CAG multipliers that indicate HD. Siblings and children, prioritizing those that most resemble me. My family cut me off after my mother’s funeral. This will be a challenging task.
There was a long discussion about if I really wanted to find out. I explained that I wanted to find out for my progeny. There is no cure. But knowing allows those affected to prepare themselves the best way they can, using whatever tools are available. The fight was no longer for me, but for those secretly loved. We must know so we can soldier on.