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.


Saturday, November 19, 2016

A Cold

This week Mimi got a bad cold. She gave it to me. Then Matt got it. Mimi had one of her check-ups at Dupont near Philadelphia on Thursday, so we all drove there with the three of us coughing. (She grew nearly two inches since the spring!)

We were worried for Max. On Friday morning he woke up with it.

Sticking to the new protocol, I gave him a nebulizer albuterol treatment and I called Hershey Pulmonary and left a message.
The nurse called me back and said that the doctor wanted to see him at 3:45.
When the doctor checked him Max was already wheezing.
At 4:30 we were out the door with a prescription for prednisone and augmentin sent to the pharmacy (to prevent pneumonia because Max will probably be unable to clear his lungs).
We then went to a local church Christmas bazaar (Max REALLY wanted to go- this only happens once a year). We tried not to stay long, we shopped and did fun things and he turned red in the face.

Stopping at the pharmacy on the way home, we had some trouble -the medications weren't sent in. So late Friday evening, there we were with a red faced child with MD and an upper respiratory infection and wheezing and nothing to give him but Albuterol. Finally, after several calls to and from Hershey 24 hour nursing last night and this evening, and around 1pm today, the orders were phoned into the pharmacy by the doctor on call (we don't know what happened).

This evening, Max is congested, pale, and has red bags under his eyes.

Today, he took 15 doses of medication.
Vitamin, CoQ10, Vit D, CoQ10, CoQ10, Augmentin, Augmentin, Prednisone, Prednisone, Flovent, Flovent, Albuterol, Albuterol, Albuterol, Albuterol.

Apparently, this will be normal for him? I have to get used to this is what we do. I thought when I called the office yesterday, they would tell me to have him checked on Monday, not come in later that day.
What happens if I call on Monday because he's pale and I think they need to listen to his lungs and it's another surprise finding? It's starting to feel like about every other time we are at the doctor with him I hear something else unexpected.

We will keep you posted...

Wednesday, November 16, 2016


Max creates such interesting "forms" with his simplistic drawings. I believe his weakening hands have played a part in his artistic style. He works quickly and to the point, and creates shapes with minimal lines. I LOVE his people like the ones here. The man in the road is wearing a hat and holding an umbrella.

He has done this before...representing soldiers in simple profiles. He also showed garden chairs in their most minimalist state.

I couldn't do this, I would add to much "stuff" to the picture.

"Windy" was created this week at Homeschool Art class at a nearby library. It was first time Mimi and Max were aged correctly to be in the same class. She was so proud of herself. We signed up for five more:).