Saturday, April 9, 2016

Big Genetic Muscular Dystrophy Test = Done!


Max just completed the genetic blood test for the Neuromuscular Disorders Panel (76 Muscular Dystrophy types). It should take three months to get the results and should tell us what exact type of MD he has. (He did the free Limb Girdle Genetic test through the Jain Foundation -took six months-...since that did not tell which type we are now going for the Big Test.) Max's Dr. thinks that it is a collagen related MD (Bethlem Myopathy) and that there will be a mutation on one of the collagen genes.)

Max needs a hot compress before blood draws to make his veins able to be drawn from. We don't know why this is, but it really works and saves hours of poking him to find a vein. We learned this the hard way a few months ago when a lab couldn't get blood from him. Now we only go to Hershey, and we always ask for a heat pad. 


We followed up with lunch out. We then stopped over at the Hershey Library and they registered us so we are able to check out books there (might as well we are up there so often). I told them that Max is a patient at Hershey, not in-patient, but out-patient, and we are there a lot. They registered us with my Lancaster Library card and my Driver's ID. 
I found some homeschool resources not available at the Lancaster library- one was a unit study type workbook that can be reproduced with a matching CD. There was a whole series of these but Max chose one about The Wright Brothers. They also had some cursive workbooks that can be reproduced- one was for lefties and special needs kids...since Max has completed the Kumon cursive book I needed something else, so we'll make copies and try this next. (psyched as only a homeschool Mom would understand!)
Then we went antiquing next door. Which was really fun. but both kids got tired fast in there although they really liked checking things out...vintage toys sitting next to antique china made me a little nervous, but nevertheless...it was an educational moment. There were random cool things to show them like antique phones from all eras, and an old sailor suit. Matt and I used to go to places like this. We need to go back when the kids are less tired, for sure.


All of our adventures were made more interesting by the snow we had today. I almost didn't drive up to Hershey...but I couldn't imagine fitting in that blood test during the weekdays. We've recently started speech, next week is the dentist, and OT, and co-op, and.....and...and....XO 

Tuesday, April 5, 2016

Max's Super Squad Team for the MDA Walk and my message

We will be walking next month for Max and his Super Squad Team at the Clipper Stadium for the MDA Muscle Walk 2016. I have my own goal of fundraising for the walk, and I'm almost there.

It's a great time to donate because from April 4-April 8 Quantum Rehab will match your donation!(monies will be tallied after the walk itself). Here's a link to donate:

 Max's Super Squad Team/ MDA Muscle Walk 2016



Since we have a new diagnosis I thought it would be meaningful to share some things about our experiences with MD on our page. I think it's so important that kids with muscle wasting conditions receive proper treatment, so here goes...


If you have known us for the last 10.5 years, you would say that we had a healthy son named Max. You may remember a time when he seemed tired from walking around, or not quite himself at the end of the day.
But that is what you may remember...that and the fact that he is a fun kid, with an intensity about him- obsessed with anything that sparks his interest whether it be Jim Henson one day, The Peanuts another day, Sharks another, etc. You may remember he likes to eat pizza and he talks about his sister, and tells funny stories:)
That is what we think of when we want to describe Max- but now we know that when he got tired easily it was from a terrible thing called Muscular Dystrophy.

Over the last year and a half we have learned a few important things that we'd like to share to bring awareness to MD in children:
1. Kids with Muscular Dystrophy can look like any other kid.
2. No one should tell you your kid is "just fine" unless they are a doctor (that's harsh...but it's true). My husband and I questioned why he would be so tired leaving the zoo, or parks...why he seemed so tired at school, but we were made to feel like it was us...we weren't fit or active enough as a family...Max was lazy...or Max was unique, and I was an annoying Mom when I acted concerned.
3. A diagnosis of MD can take a long time. Max went to several specialist appts including appts at Neurology, Genetics, and the MD Clinic. Invasive testing had to be completed for the drs. to make the diagnosis so far, including blood labs, head MRI, leg MRI, EEG, Echo, EMG, Muscle Biopsy, and genetic testing. We still need more genetic testing and may be sent to CHOP in the summer or fall.
4. There are a lot of daily adaptions. From electric toothbrushes, shower chairs, wheel chairs, pencil grippers, speech recognition writing software, seat cushions for posture, easy to wear clothing, the list goes on. There are also adaptions we make during the day, especially planning what we are doing...if we will use the wheelchair...how long we will be out. And then we start getting ready earlier than one might expect as getting ready takes longer when you have muscle disease.

One huge lesson I've learned is how much people take for granted simple things they can do. If you can easily wash and comb your hair, and run out to your car in the morning you really have it made. If you can write fast, open a soda can, and run into and out of a store, you have it made. You are floating on air if it doesn't hurt to walk far.  You are so lucky and you don't even know it!

Thank you for supporting Max and others fighting muscle disease!
Maggie











MDA Summer Camp Physical

Another visit to Hershey. This time for Max's MDA camp physical appointment. The EEG came back clear with no signs of epilepsy.
However, it's looking like Max's MD is combined with a mitochondrial/metabolic issue. Turns out there were some mito cell changes on the biopsy. Specifically he showed NADH-TR myofibers with increased subsarcolemmal activity. (I don't think that is a good thing.)
I brought Mimi because I thought it wasn't a big appointment, but there ended up being a discussion about both dynamin defects being a possibility still and now these cell changes.

Our Dr. said that if the genetic testing we'll do in April (which will take 3 months) doesn't show why we have energy failure- he will send us over to Children's Hospital of Philadelphia to talk with the genetic neuro counselor there for probably exome sequencing (summer appt? or early fall maybe?)
You know...just a physical for camp....then we went out to lunch- as you do.

Sunday, March 20, 2016

Survived the 24+ hour EEG

(I can't believe we got through this!)

Max's Dr. scheduled Max for a 24 hour EEG. It ended up being a 27 hour EEG. I wanted him to have this test because Max loses coordination during certain exercise. We notice that if he's jogging around, he loses coordination in 12 minutes. If he is walking around, it's more like 30-40 minutes. We notice that he walks into things, is harder to talk to, and gets a very bad headache.

I asked the Dr. if Max could walk around the Hershey parking lot for a while, and then maybe we could check his brain function. No, they do the EEG this way.

It was more involved than I thought. He had a typical EEG here last year, which lasted 1.5 hours. The 24 hour one requires you to carry the device around. The glue they put on your head is really heavy duty. It's a more intense procedure as they don't want anything to fall off!

Max immediately hated it. They told us he should be fine without his head wrapped up in gauze which was a blessing. I brought along his baseball hat, which worked enough.

With his Muscular Dystrophy, the device in the backpack weighed too much on his shoulders. He is pretty sore now from carrying it around. He hated it if the leads felt like they were dragging. I would pick them up and rest them on top of the backpack. I needed to help him get in and out of the car, help him lay down, help him sit up and strap the thing back on. I also checked to make sure it was "on" every few hours.

And there was the journal, where I recorded what he was up to at the time, and if I noticed anything. If I did, I had to press a red button which will print on the report indicating that I noticed something at the moment. The Dr. can see if it corresponds to an abnormal response on the brain wave printout. My goal was really to tire him out, in an attempt to recreate what we see. I pressed the button a total of three times and those times occurred after we were done at the museum, when we were done shopping at KMart- both times he began to walk into me, and lastly when he got into the car the last time but stopped a bit too long to ponder how he would get into the car and had trouble following my direction (which was odd because he had already gotten in the car several times that day with it on.)

We first went to Friendly's which was awkward for him. Then we headed to Hershey Story where they let him in for free. (Rather nice to be let in free when you are a patient from Hershey Medical Center and then you walk around the museum and learn how nice Milton Hershey really was :)





We then went to a Mennonite run bookstore in Ephrata which has some unusual homeschool supplies (I hope to blog about that later). Then to the library, then to two KMarts. By then he was quite done.

He was annoyed at home, but rested on the couch and played computer games. He slept fine, somehow, all night. He woke up and got through the next morning, and then we happily got back to Hershey and got that thing off!

Earlier in the week, we had gone to Lowe's and thanked the General Manager for supporting the MDA by selling shamrocks.

We posted the photo on the Harrisburg District MDA page on facebook. The office fedexed Max a shamrock t-shirt for thanking Lowes! We got it right before we left for Hershey to have the EEG taken off.

After the clinician took device off and all that entails, I gave Max the t-shirt. He was excited and relieved. He happily changed into it, and went home so happy to have it all over, comfortable as can be.

And now we have realized that next weekend is Easter. And we have Another! Hershey appt. this week- the physical for MDA camp!...Our busy life...

Tuesday, March 15, 2016

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:)






Sunday, February 28, 2016

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.




Thursday, February 25, 2016

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:)









Monday, February 22, 2016

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.


Sunday, February 21, 2016

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.


Saturday, February 13, 2016

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.


Thursday, February 11, 2016

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.