Your Prescription is Ready and Moving Forward

Things are moving forward, like it or not. I remember this with my daughter Mimi. Months/years of not knowing what's going on. Then one day a big container arrives with Growth Hormone, as well as a nurse. And we were on our way.

The same thing is happening now. Max's Dr. worked with his insurance to cover CoQ10. I went to pick-up the tablets and was handed a hefty sack of bottles. This is 3 months of CoQ10. One 100mg tablet 3x day. For all we know this is all Max can can take to help him muscles from deteriorating so quickly. Until there is a "a cure."

 

Ironically, the CoQ10 is piled next to the growth hormone supplies. It's starting to look like a medicine cabinet in my kitchen cupboard.

We are also getting used to the wheelchair. I think I'll change the wheelchair's name from Carl to Andre'. Andre' helps my son not fall apart physically in a store...and he is happier when we are out. What a big, relief. We've also secured some epic parking spaces with the handicapped permit. Max says, "Seriously. I think this is the best parking space in the whole lot!"

We barely survived the Nerve Conduction study last week with repeat shocks. He was reduced to tears- 1.5 hours of shocks. In many locations of his arms and legs it looked like there was very little activity. I think that they had to keep amping the shock level because the normal ranges weren't making his nerves react. I was then reduced to tears. They called in the Dr. He was funny as always and said that he has enough to go on. We did a trial since then of a Myasthenia Gravis medicine to see if Max would have *some* restored strength- but it didn't work at all. This would be in case Max has some sort of congenital Myasthenic condition in addition to the MD.

We are now awaiting the 24 EEG which is coming up. I am overwhelmed as I know HE is getting overwhelmed. I think he is beginning to think this is incredible what they are doing to him. I feel in disbelief at times when I realize that he is only 10 years old. Did you know you can repeatedly shock a 10 year old for an hour and a half? Cut a muscle out of a 10 year olds leg? Load him up with 300mg of CoQ10 a day?

Here's Max last week at our homeschool Co-op. It's such a nice time that we spend with other homeschool friends. Max plays chess and does archery with a light bow with other boys. Mimi and her little pals have music class and we work on the Book Cooks program. Sometimes we all hang out and do a little seasonal something- like making these Easter Gardens. It is so awesome to be outside amongst nice company. When we drive back home we pass the Max's old elementary school. It's a Friday afternoon. We are usually tired and happy and content from having our nice afternoon. We are always so relieved that he's not spending his days exhausted and inside the school anymore. 

In other news, I am seriously cleaning my house. I've been at it for a week and it's starting to look much tidier. Between all the appts and the homeschooling and everything, something had to give.

I learned about the Konmari method and that is one sure way to let stuff go. I found it very helpful. It was also helpful that I know that Max has Muscular Dystrophy now...so much for certain toys and certain pants with too many buttons. Also, some of the playroom type clutter had to go because with MD you can't have things to trip over. Puts things into a different perspective.

That's it for now:)

The Growing List and Wheelchairs in Parking Lots

Still no handicap parking permit- it's almost been a month.
Let me say that it is really dangerous to navigate a wheelchair across an entire parking lot. Cars don't see the wheelchair because it's low.
As I am the proud mother of another child who has a diagnosis of Pituitary Dwarfism, let me say that when one is in a wheelchair- you might as well be a Little Person, too. 
If I don't hold onto the manual wheelchair and it's say "windy"- which it has been, the chair could literally take off on Max. I don't think he could stop it due to shoulder/arm/hand weakness. So that's great. Another check mark for the need for an electric chair that he can maneuver himself.
We really need the parking permit to arrive. We are now literally praying for it's arrival. At first I thought after the Costco trip that I might be blowing the dangerous-ness out of proportion. Then today a lady at the library nearly backed her car into Max. (Please excuse my language to all in the parking lot at our nice, family-friendly library.)

I have a growing check-list of things:
Parking placard.
Revisit with Orthotics for new orthotics (Requires walking up and back, up and back and then casting. And then waiting.)
CoQ10 ok from insurance
Genetic panel test ok from insurance
Upcoming speech evaluation (there is also facial weakness)
EMG test -testing Max's arms. Did you know that this is how they diagnosis ALS? The last time we were in the room we found out Max had Muscular Dystrophy. Now they are testing his arms to see if there is something in addition to or part of his MD. We'll know that day during the test if something else is up. (Nervous).
EEG test - 24 hours of head wrapped up craziness.
Buy Dragon Voice Recognition and learn to use with OT.

Here's Max at 5 years old walking into our awesome library. Today he rolled in using a wheelchair, pressing the buttons that open the doors ahead of him. We really were just seeing how he could handle the wheelchair in here. It felt like he would have been fine without the chair... but he looked comfortable in it browsing the books which were at his eye level.
On the way back out to the car I realized that he wasn't walking slow and limping, as he usually does on the way out. Instead he was rolling:)

Caught in a Valley of Awkwardness

We're suddenly caught in a valley of awkwardness. In getting around, in day to day life, even in groups and conversations.

Pretend for a moment you are a ten year old boy and your muscles are not working and it will be a lifelong situation. You are to not fatigue during exercise. To limit yourself to 5 minutes of exercise and to not lift more than 2-3 lbs. Then, you go to say, Scouts- with other boys and hear various people say things to a big group of boys like:

"This makes boys strong!"
"You need to go outside of your comfort zone."
"Strong boys have happy lives!"
"It's so important to be physically fit and strong throughout your entire life."

Those are examples of general statements that have turned my stomach in the last week. They've left me feeling confused.

Overall, I feel like we've moved - even though we've lived in the same house forever. You know, when you move and every conversation you have is with a stranger, When you have to find your way to places you need to go to but you're not quite sure how to get there or where things are once you are there. When everything is new and all the newness is getting tiring.

After sitting stunned while these words linger in my head- I know that those around us have little idea what muscle wasting disease is really like. I used to see people with muscle disease and not think about it for more than a minute or so.The ramifications of losing your muscles is really intense. Every part of Max's day is affected by weakness.

In actuality, Max is stronger than most people. Real strength doesn't come from milk, or keeping a fitness log. Staying in your comfort zone can in some cases save your life.

From now on our goal is to keep what muscles he has for as long as we can.  It is also important to keep Max as safe as we can. It's really weird -all of this. Stuck in a valley, in our own neighborhood. When the day-to-day language makes us feel foreign.

Cringe Management

Every week, Mimi joyously attends her gymnastic class. Her Growth Hormone treatment has helped her develop muscles and she is loving trying them out at her gym. She is gymnastics-all-the-time and practices all day long. I am psyched she has found something she loves to do.

Parents sit in the balcony during classes, and for us, that means Max and I. And here comes the cringe factor: the steep flight of stairs up to the balcony. This may not seem like a big deal at all. Last week it was though, as Max took off down the stairs to use the bathroom. He sort of hurried/pulled himself up using the railing on his way back up, and then flopped and slumped into his chair. I noticed his pulse coming out of his neck for a bit too long.

I would watch Mimi and then glance over at him to see how he was doing. The other moms are chatting and looking relaxed. Inside I'm having having heart palpitations with worry. The two flights wore him out. And we still had to go to Webelos right after.

So...Mimi loves this place. We may be going here for quite a few years. But how long can we be up in the balcony? If we sit downstairs, we are kind of in the way, and can't see as well.

It's tough. For me this moment represents the opposite ends of the strength spectrum. I have one trying to stand on her hands on the balance beam. I have another one absolutely worn out - from these stairs.

It makes me worry about the future. I wonder if becoming fatigued on the stairs will make his muscles turn to fat. Did they turn to fat a little bit last week? With Bethlem Myopathy, stairs become extremely challenging. How do parents manage? It seems an easy answer to say "can he stay home?"...but we are feeling limited as it is.

So I guess one day we'll be downstairs, positioned in our adaptive location.

I'm mad at those stairs.

The New Normal

Well, that's sort of pre-mature..."The New Normal"...can we call this "The New Normal" if we're still in shock...I don't know.

A long time ago, this blog was about my life and the artwork that I sold downtown in Lancaster, PA. At that time, all was great. I had a little boy who was so cute, and I was "arty." I stayed home and played with my son and painted.

Then, I had my beautiful daughter Mimi. She stopped gaining weight, and stopped growing too. Turns out she has pituitary dwarfism (who knew!?)...so my blog became a journal for her diagnosis and our experiences with using Growth Hormone. She will have a shot nearly every day until she stops growing.

Now my focus is changing again, and this is what happened:

My son Max turned 9 in August of 2014. In September of that year, he started 3rd grade. At that same time, I noticed that his back suddenly had bad posture with slumped shoulders. In fact, it startled me.

In November of 2014, the week of Thanksgiving, I went to my son's first school conference of the year. It was not a good conference in that my son suddenly was having  trouble in all of his afternoon classes (despite being put in an advanced/gifted reading time in the morning)...hmmm.

The teacher pulled out my son's writing samples and my heart sank. My eyes got big, and I said, "That is his writing?" I noticed that compared to the year before, his writing was now really messy and limited as well. I said, "I need to take him to the doctor. I need to bring those papers to the doctor." (I took him in the very next day.) (Which caused my son's primary doctor to turn a different shade with worry, and order an Echo/EKG/Neurology Eval).

Within about 20 days- for many reasons, I withdrew my son from school- much to my own shock and everyone else. (This is now one of the best and coolest things I have ever done in my life!) I began to homeschool him and we started having a great time together again like the days when he was little. We also went to many doctor appts and tests. As the year progressed, the therapies began (2x week), and the appointments got more and more and more serious.

(Just short of) One year later, Max was diagnosed with (so far) Congenital Fiber Disproportion Myopathy type 1. This is a finding in a few different forms of Muscular Dystrophy. Max is now waiting for genetic evaluation to find out which exact type of MD he has. Dr. Wicklund at Hershey believes that Max has a Collagen gene abnormality and may have Bethlem Myopathy. This type of diagnosis is not easy to make and requires clinical evaluations (in our case 1 Nero, 1 Genetics, 2 Neuromuscular), an EMG and Nerve Conduction Study, and a Muscle Biopsy (sedated/in surgery/please be here at 7am type of thing). We also had many blood tests, 2 MRI's (head and hips/legs), an EEG, a Dexascan (above), pulmonary testing, etc etc.

So that is the deal, but as the days go by, things are more and more complicated. And so, my future blog posts will describe my observations in dealing with my son's MD...and how we are getting on. I have had my share of  medical jargon as well as vacant looks from people who "don't get it." There is also very little online about the real day to day aspects of Bethlem Myopathy or Collagen abnormalities or Limb Girdle Muscular Dystrophies...so I hope my blog is found by people like me looking for something to relate to.

In my future blog posts, I will focus on an observation, or a story, or a single thought. I will go into personal detail...as that is what I think is missing from the "World Wide Web" in regards to MD. I am prepared to tell it like it is.

I hope that other moms and people with Muscular Dystrophy will relate to our experiences.  I have decided to just add to my original blog, instead of starting a new one. With so much going on, this is easier for me. I also felt that by keeping and adding to Sweet Maggie May, that you may also look back and realize what our life was like "before." That helps tell the story, don't you think?

With Love,
Maggie