Tuesday, November 29, 2016

Our Household= Two Muscular Dystrophy Association Patients (?!)

Yesterday, November 28, 2016,  (One Year and Nine Days after Max was diagnosed with Myopathy), I had the day off and away from the kids to have two appointments with Max's neuromuscular doctor at Penn State Hershey Medical Center. Through genetic testing, I learned that I am Max's RYR1 Myopathy carrier. Because I have had muscle spams pushing Max's manual wheelchair, the doctor wanted to do an EMG on me. I thought that was a bit crazy, but I understood why he felt this was needed.

I could have a sort of Mom's day...

Then he asked that they schedule an appt with him following the EMG. So that seemed crazy and a little much or redundant. I mean...I know him already and would talk to him in the EMG.

So I went to Hershey for two appts.  Here I am in the parking lot at 9:15am yesterday.

Here is the EMG room after I had been electrified and needled.

I was not afraid of the EMG. I was afraid of what he could say...because the last two times I was in an EMG room, we were told that Max had a myopathy (and so began a year of appts.)

First, Colleen did the Nerve Conduction Study. She had done Max's...so it was a bit "DeJa Vu."

Then, Max's awesome doctor came in and we chatted and he began the test in my arm.

My forearm had small motor units. Abnormal.  My shoulder, small motor units. My upper back, small motor units. My lower leg, same thing. Other areas were ok or "relatively normal."

(UPDATE: The official EMG report is in and says, "Motor unit potentials of decreased amplitude and/or duration, with or without decreased recruitment, were seen in the tibialis anterior, medial gastrocnemius, rhomboid major, infraspinatus, deltoid, and flexor carpi radialis muscles." )

He tested 12 muscle areas and 6 were myopathic.

So, I am Myopathic. And, I have RYR1 Myopathy.

That means:
I am not really lazy.
There is a reason that I like to wear comfortable clothes. Like really comfortable clothes.
Like clogs. Like yoga pants. Like shirts that don't have buttons.

I am not having age related fatigue, soreness, or muscle spams. I am having RYR1 Myopathy fatigue, soreness, and muscle spasms.

The Dr. had me sign the form that enrolls me in the Muscular Dystrophy Association as a patient.
I could not believe it. It's the form I signed for Max. He handed it to me very casually and I said, "Are you signing me up for the MDA? I cannot believe it."

I shall now try to make things a little easier on myself. Buy some very comfortable "sportswear" and not feel bad about it. And Max and I will frequent the massage chairs at the mall.

Every now and then I remember something I had trouble doing as a kid....like running in gym in high school, or being really tired after a big day out.
I have a much less severe case than Max. However, I could progress, and will have a followup with the clinic in one year, and a pulmonary test (in the booth like Max had) pretty soon.


1 comment:

Wendy said...

What an 'interesting' mom's day out--I wish you the very best, Maggie. In all things.