Yesterday, I received authorization from my insurance company to take the DNA test for Kennedy’s Disease (SBMA – Spinal and Bulbar Muscular Atrophy).
I have many of the list of symptoms. Talking privately (and publicly sometimes) to members of KDA (Kennedy’s Disease Association), it seems the matches are uncanny. Many of the group are more mobile than I am. It would figure, as a mathematician, that the odds are stacked in my favor (a little joking required.)
There are good and bad outcomes of either answer.
“No” means we move on into the future. Continuing to walk blindly. We are currently treating symptoms for something which we don’t know the origin. We are “shooting in the dark.” Currently, when things get going bad, my only recourse is massive sedation. If you look at the litany of famous people that have tried this method, you can see their expiration dates on their headstones. Continued sedation does not work. It has fatal consequences.
My latest was last night. I have been on an elevated state of spasticity for about three weeks now. It ended Monday, I didn’t realize it and continued my normal amount of medications. I woke up at 10:30 last night with blood pressure or 100/60 and pulse of 50. I searched for things to do to keep me awake. I found some inappropriate music from the 80s, slipped on my headphones and rocked out until my BP resurfaced.
There are perils every day in the life I live. Real perils. I have accepted death as an unintended consequence of my treatment plan. It definitely is not what I want or desire in any way, shape or form. But, when you are at pain level 8 or greater 24/7 for more than a week and your only answer is sedation, you play a deadly game.
“Yes” has many implications.
- The most obvious is that we have a name. I can tell people I’m not any crazier than what thy previously thought I was. In fact, maybe just a tad less.
- We have a growing body of information to base decisions on for treatment plans. KD doesn’t have a huge library of information behind it, but studies have been done on the disease. There is a possible effective treatment path for the disease. Study identifies potential drug for treatment of debilitating inherited neurological disease. However, it is marginaly effective in adult males. However, given to children prior to puberty, it seems, will stop the progression of the disease. However, the therapy is to block testosterone.
- My progeny will have a method of identifying if they will develop the disease. I have three daughters, two beyond puberty, one in puberty. The two older children are pass the age of danger. The third may not. Females only develop prior to puberty. Males, later on in life.
- My grandchildren will need to be tested. I have one now. I don’t get to see her due to discord in the family. She will need to be tested and possibly start treatment. Male children have a 50/50 chance of developing the disease. They will need to be tested.
- I have a ton of nephews and one neice. Being unsure if this mutation started with me or my mother, either my mother, my nephews or all of them will need to be tested, for their own good. My mother is way past the danger zone. However, testing her would give us important medical data.
I don’t know what tomorrow brings. Heck, in a previous post, I said I live moment to moment. That is definitely the truth. Yesterday morning I was weeks away from getting the DNA test. Due to an aggressive form of Neurologist (I love my doctor), less than 24 hours later, I have the test taken. It will be some time before I get the results. However, I await them with great anticipation.
Jay C. “Jazzy_J” Theriot