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 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 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!

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.