First Time for Everything

The heavens have shined down on us and sent us the handicapped parking placard. Today we used it for the first time at the Railroad Museum of Pennsylvania.
I have noticed a higher happiness level in Max over the last few trips out. He rides in the wheelchair for long strips of walking. He hops out for photo ops or to try something out or look more closely at something- then he hops back in.
There is still a little bit of deliriousness on the way home but it is not accompanied by severe exhaustion and moodiness. There is light in his eyes again in the pictures from our last two field trips.
It's starting to work out. The icing is the parking placard. It helps me help him, and allows me to more safely get the wheelchair out of the car and get him in it.

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:)

Medical Clearances. Hmmm.

You know those forms you fill out for your kid that clears them for camps/sports- things like that?

When your kids are fine, or pretty fine except for an allergy or something, they seem reasonable and easy.

So today, I began to think more about the medical clearance for scouts. There is a three mile hike for Max's Webelo den coming up. There is no way he can/should do that...and I began to wonder if he is "medically clear" for scouting. Sure, he can do the inside den activities (most of them), but what about even trips out? I pulled the forms up online and printed them out.

For events out he can use his wheelchair if the place is handicapped accessible. But what about if it's really hot, or a long day- and he starts to feel awful? Of course we'd be with him, and then we'd say, "oh no. We have to go. sorry. see ya. ok."

I need to fill this form out again with his new information. But we have upcoming testing that could change the game again. What happens if your child has a serious illness? Do they say, "Sorry, this isn't going to work out" or something like that?

Max has a physical coming up for MDA camp. I will talk to his doctor then.
It's like a childhood has been temporarily halted, and we have to figure out how to navigate in a different direction.

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.

The Wheelchair is here, and I named it Carl.

 

This is the huge box that Carl the wheelchair came in. I have named the wheelchair because it might as well be a new family member. We also bought the matching cup holder, as I realized that when I push Max in the wheelchair I will have no other free hands. 

Why does Max need a wheelchair?
Max has muscles that turn to fat when he fatigues. That means each time a muscle transitions a little bit to fat...he'll never be able to get that part of his muscle back. Max becomes quite out-of-it when he fatigues and it happens in places like in the middle of a store. This has cut many trips quite short over the last many months. It's also raised concern with his Neuromuscular Dr. and PT, and his PT and OT at Schreiber. This is not a wheelchair that Max has because he broke his leg. It's not a novelty wheelchair he'll use for a month or so. It's his "first" of many (most likely) wheelchairs. He will use this wheelchair for anywhere there is a longer distance to walk. He doesn't need it small stores or in our house.

Why this wheelchair?
This is the wheelchair that Max's insurance covers. However, we have self-payed for it, because it is likely that he will need an electric wheelchair or scooter within the next year or two. Paying for this one allows there to be "less of an issue" when we ask the insurance to pay for a more advanced one. It was a discussion at his last clinic visit between the professionals, and they determined this would be best. We agreed, and it was a nice wheelchair that was affordable.

Carl will take some getting used to on my part. Max was immediately an old-pro.

I am overwhelmed that I need to push him most distances. This is because Max has muscle weakness throughout his entire body including his arms, hands, back, shoulders, stomach. If he pushes the wheelchair all around Costco, he could fatigue and act out-of-it even while in his chair. This is scary to me because soon he will have some intensive testing at Hershey that tries to pinpoint what is going on neurologically. In the middle of a store, if that happens, even while in his chair, there is no other choice but to leave.

So pushing him myself means that I can't really carry anything at all. So I have to be able to put my bag on the back of his chair. I also have to watch Mimi. She wants to be in the wheelchair off and on, and is annoyed she isn't in her old stroller. Did I mention I can't buy much if I am pushing this chair? So how would I shop? Then I realized, we may be closer to an electric chair then I thought.

Trying out this chair in 18 degrees was not the easiest time for a first go. We are awaiting our handicapped parking permit, which should be here any day...so trucking it through the packed Costco parking lot the day before Valentine's Day with severe windgusts was not the most pleasant thing either. It actually felt a little dangerous as he is lower in the chair and you know how people are in the Cosco parking lot. Ideally, I would recommend that the handicapped permit and the first wheelchair happen at exactly the same time.

All in all, I'm not so sure how this will work...but we did stay in Costco longer than we have with Max in the last 2 years. At one point he asked, "What are we doing here so long?" He hadn't experienced "looking around Costco" in quite a while.

We'll be getting used to Carl one day out at a time.

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.

Muscular Dystrophy Diagnosis Roulette

Sometimes MD can be confirmed with a blood test. But sometimes, the MD form can not be fully identified without a genetic test. Max falls into that second category. We know from his EMG and muscle biopsy that he has a fiber disproportion myopathy- but it's not known what the exact diagnosis is. Some people with MD never know what type they have.

The scary thing about not knowing the exact type, is frankly, not knowing the progression of the disease. So with each type of say, Limb Girdle Muscular Dystrophy, you are spinning that roulette wheel in the clinic office and your doctor may walk in and say, "IT IS X!"

This happened (or actually didn't happen) last week at Max's clinic appt. The free Limb Girdle genetic test he took through the Jain Foundation and Emory Genetics in September finally came back. It didn't tell us what Max had, but said that he is a carrier of two types: one is a form of MD that only one man in Turkey has (!), and another gene which is Limb Girdle 2B.

I have done a lot of MD research - but the Emory Genetics report had too much medical terminology on it for me to digest in 1/2 a minute with everyone present. Usually I read MD type descriptions in the comfort of my home with a highlighter.

Looking at the report my mind raced, "Oh Dear God. Does he have these types?! I know 2B is a better one to have...but what about the other one? Does he really have this or that type and if so tell me right now if there is heart and lung problems and the life span." The MD Diagnosis Roulette.

That is what I was thinking...but Max's Dr. explained to me that Max didn't have either type...He could have another Collagen gene defect that wasn't part of the Emory test- as he originally thought, so we need to do the big genetic test.

People say you should not Google medical things, but for times like this, I like to have background knowledge. If you say, researched all the Limb Girdles if your child is being tested for them...you would "know" the progression as soon as the Dr. spilled out that your kid has that one. That's my reasoning anyway. That deer in the headlights feeling is what I try to avoid. But that's just me. I sort of figure that if I know progression as soon as he says it, I can then ask educated questions that enrich the appointment. That may sound crazy, but it also helps me understand what they are talking about, and helps me get more out of the appointment.

We hope to get insurance approval for the 70 something gene MD genetic test. Cross your fingers we can provide the blood or spit for that one, and that we have patience to wait many many months for the answer... then we'll spin the MD roulette wheel yet again.

Sigh.

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