I am aware that I am less than some people prefer me to be,
but most people are unaware that I am so much more than what they see.
— Douglas Pagels

Tuesday, April 24, 2018

New-found gene mutation: Hypokalemic Periodic Paralysis with Myotonia

On April 19, an article was published about a new-found gene mutation for a variant of Hypokalemic Periodic Paralysis that is accompanied by Myotonia - P1158S - a sodium channel in the Nav1.4 region. They have confirmed that it is affected by changes in pH that occur in activity (excitability).

I've screenshot the Abstract for your convenience.

The full article is here.

I take issue with one sentence:
"A serum potassium concentration less than 3 mM may trigger hypoPP."
That tells me they still don't fully understand their patients. People with Primary Periodic Paralysis do not have to fall out of "normal" range to be symptomatic, or even to have serious paralysis. A lot of people with this condition, myself included, have proven that over and over for decades. If this does not get acknowledged, patients are going to continue to suffer. The notion that serum potassium needs to be out of a specified range for symptoms to arise simply has to change.

If you've been reading my blog long enough, you know this gene mutation is a possibility for me since I have both Periodic Paralysis with permanent muscle weakness and occasional debilitating Myotonia. However, I don't know how my pH changes during physical activity, and I doubt it's worth finding out since my body handles activity so poorly. Excitability is a big problem, and the last thing I need to do is test that and end up fully incapacitated as I've been in the past. I would, of course, agree to genetic testing otherwise.

This is an important reminder that we must keep looking for answers with an open mind for the sake of patients whose lives are affected by strange diseases such as this. Paralysis and Myotonia are opposites, yet this condition is real. There is so much information to take in, but we're not done. Life is not a textbook. There will always be something else to learn. If more physicians were willing to consider that there are variants of what they believe to be the norm, we would be in better shape overall. Huge thanks to the fantastic medical professionals out there who get that.

Thanks for reading.