20180412 – Summary of What We Know and Do

Critical symptom onset was on December 17th, 2016.  On this date, I was shopping for a present with my daughter and had to head home.  The 19th, was my last day of working.

After over a year, we have ascertained that the condition is a genetic neuro-muscular disorder complicated by hypoxia due to sleep apnea.

The condition is global.  Every part of my body is affected.  I have facial twitches and spasms as well as issues with every skeletal muscle group.  Additionally, my blood pressure has risen, either from the meds or associated with the condition.

There are two states: baseline and event.  Baseline is where I feel every day when I’m not having an event.  The baseline is characterized by generally stiff muscles, lack of coordination globally and loss of fine motor control.  Walking short distances is possible, but standing in one place is devastating. Depending on the level of the baseline, I’ll either be walking without assistance, using a cane, walker or wheel chair.  I don’t trust myself driving.  Additionally, the vibrations of automobile travel trigger an event.

My skin occasionally has burning spots, ghost feelings, or itching.

An event can last anywhere from a few hours to several days.  My record is three weeks.  But, most are about 3 days.  During an event, tremors begin, then twitches, cramps, contortions, localized spasms, then full body spasms.  I define the difference between a twitch and a spasm as this:  A twitch does not pull or tear a muscle.  A spasm will.  A cramp causes pain, where a contortion just knots the muscle and relaxes.

An event is enormously fatiguing.  There is very little muscle control during an event. I am usually in bed, my executive chair, ergonomically arranged, or my wheel chair.  Using any other device, such as a walker or cane, doesn’t work.  Occasionally, I cannot move my wheelchair forward with my arms.

Treatment:

I have an Intrathecal Baclofen pump which sedates the nerves in my spine.  Additionally, I have a host of medications treating different symptoms.

I have a cocktail of meds that have shown to be effective in stopping the acceleration of an event.  I must take them at the early stages of an event to stop it.  If I wait too long, the event progresses rapidly and by the time the meds begin to work, muscles have already been pulled.

We have started a regimen of protein drinks, target to power lifters, to help the rapid repair of the muscles.  This is in response to my theory that the muscle damage accounts for the extreme pain post-spasmodic event, with the accusation that the muscles never get a chance to heal between spasmodic events.  This seems to be quite effective.  However, I fain to declare victory as it has only been one or two events that has occurred during my use of the protein.  I can report a significant (80%) reduction in pain during an event and rapid recovery after the event.  After, I regain my strength from the event and it has passed, I can generally return to my pre-event baseline, with slightly degraded abilities.

Why not CBD oil and/or Medical Marijuana?

Under laws that are passing through the house, I will qualify for the use of Medical Marijuana.  CBD oil is a new product that is available and is showing promise.  All of these treatments are in my scope.  I have not discounted them and if you are using them effectively, I am happy for you.

Marijuana is not legally available at this time and thus not a current option.  Additionally, my wife is horribly allergic to burning items.  This could be a cigar, cigarette and even a fire pit.  I have seen the effects and will not contribute to it willingly.  So, use of marijuana, even when legal, is likely not going to happen.

CBD oil has psychological as well as physiological effects of its own.  Additionally, is not as rigorously tested and documented as pharmacological meds.  In the interest of the scientific method, we are moving slowly and testing everything.  Introducing another variable into the experiment that my life has become is not something that I take lightly.  The fewer variables, the simpler the solution.

Overriding all is the fact that the only thing I have going for me is my cognitive abilities.  My body has betrayed me, but my mind works well, when not troubled by intense pain.  During the event, my cognitive abilities are lessened because of the lack of ability to focus on an issue.  Mobility becomes the only thought that my mind can handle.  Mobility, in a normal person is handled by the subconscious.  In me, it sometimes requires every problem solving skill I have.

I don’t desire, and I am highly resistant to taking the pain killers that are readily available to me.  I take them only when I have suffered so much that my mind needs a break.

DNA Test:

I have taken a DNA Test for SBMA “Kennedy’s Disease.” The description of the condition matches many of my neurologist, my wife and my findings about my condition.  If this does turn out to be a “yes,” there are medications that have shown to be effective in the treatment of the condition.  Although, different sources debate there efficacy, we will have a name and my progeny will be forewarned as to what to look for in themselves and their children.

I am in counseling to help deal with the loss of abilities and my familiar issues.  I was currently asked if I were given satisfaction when I wrote about my family.  I don’t.  I wish it were not that way, but it is.  This blog has always, and continues for two purposes:  1) Documentation for myself, 2) for the greater good.  There are others out there that either suffer from debilitating conditions or have a family member or friend that is in that situation.  If I help one of these to see insight into the psycho-social, emotional, and medical issues, then my efforts are vindicated.

There are issues, many issues, when you live with a disability.  It isn’t just you, but everyone around you that suffers.  The protein mix was suggested by my wife’s coworker. Exercise regimens, from friends, spirituality from many.  Many, many, many people are effected.  If I can cause someone to grab this and run with it (or wheel with it) and make sense out of their own life, my heart will smile.

Thanks, and God Bless,

Jay C. “Jazzy_J” Theriot