Tuesday, August 15, 2017

Please donate to the MDA Muscle Walk! Here's Why...

Please consider donating to the MDA Muscle Walk of Central Pennsylvania for 2017. 
Our team is Max's Super Hero Squad. Want to walk with us? Mark your calendar for Saturday, September 30 at 11am at Hershey Park Stadium Track!
Click here to donate or Join the team!

What would you do if you went to the Dr. and they told you that you had Muscular Dystrophy?

Like right now, with all that is going on in your life...and that this condition you have "can progress."

Seeing what everyone is up to on Facebook...vacations, sports, races, busy jobs...I'll tell you what you would do. You would FREAK the _____Out! Then, you would go on with your day with many questions in your head...

You'd go home and people would ask, "So, What can they do for that?" And you'd remember the doctor saying that maybe you can get some CoQ10, because there isn't a cure or anything right now. One month supply of CoQ10:

This is the point I was AT two times in the last two years. First with Max, and then after being diagnosed with RYR1 Myopathy myself.

I have RYR1? What? You're kidding.

Many of you know the story about Max (diagnosed in November of 2015) and how we pulled him from his antiquated city school with lots of stairs and no AC in the third grade. How he had tons and tons of appts and therapies in the fourth grade (over 100), and how he loves going to MDA Camp and supporting the MDA as a local Goodwill Ambassador. (I just realized that MDA is his other "extracurricular." The second one is horseback riding therapy.)
Here is Max at Ride for Life 2017:

I was diagnosed by Dr. Wicklund at Penn State Hershey Medical Center, on November 28, 2016, the Monday after Thanksgiving. In the weeks following the appt, I realized what had been happening to me while I was busy over the last few years worrying about the health of both of my kids. (My daughter Mimi was diagnosed at the age of 3 with Growth Hormone Deficiency.)

I realized why my Fiesta Ware dishes felt like they weighed a ton. Why I felt trapped in my bed if my blankets were too heavy. Why heavy shoes or boots hurt my legs. Why I had been pacing our activities...do one big thing on a Saturday...home Sunday and Monday.

As weeks went by, the Aha! moments would come throughout each day and different tasks. My shoulders burning changing the shower curtain, realizing I barely lift my arms to wash my hair, realizing that my shoulders burn just shopping through clothing racks at stores- and realizing I'd almost stopped shopping from racks entirely over the last couple years. All these little things like putting a suitcase in a car and feeling very weak when I start to drive. Washing an IKEA glass cup filled with water and thinking...how much does this weigh?

Little did I know, that when my Max and I were burning red in the face in the heat (and no one else was), that we were actually at risk of organ failure and death from heat stroke. - a complication of RYR1. I remembered how if we planned to run in gym class in high school, I would get really annoyed, because I knew I would barely be able to concentrate in Algebra later that afternoon, as my face would be pounding with heat (for HOURS.)

As Max and I had multiple surgeries over the years,  we could have turned into an anesthesiologists worst nightmare and had an RYR1 Malignant Hyperthermia event on the table. (The National Institutes of Health made sure that Max and I both got Medic Alert bracelets.) His is orange and mine is green.

This RYR1 situation causes fast fatigue and muscle pain, and slowly progressing weakness. From like...your neck down. Ugh. You look pretty normal, you act pretty normal (LOL), but inside...your muscles do not react or recover like normal muscle. Instead, you pay a price for a whatever you do.

Max or I may be able to do something like lift a box, or walk up a hill...but wait for it...our muscles will really tell us later. They may even just sort of stop working mid-task. (ie. going up a hill at Hershey Park). They will burn, spasm, and weaken, and make us feel ill. The kind of pain like the flu. For an hour or so? No. Try, for a couple of days(!).

What has changed for me? 

I was used to adapting things in the house for Max, so I've spent my late spring and summer making it easier to be in my house and do the things I do every day. So, I have lighter dishes now, I don't feel bad using paper plates, I can make my bed easier with just a duvet, I bought easier to use shower curtain rings, lighter laundry baskets, a lighter broom, a dust pan that stands up (so I don't have to bend down and stand back up again). I got rid of things in the yard, so that I don't have to get them in and out of the garage every season. I got rid of heavy sweaters and figured out better things to wear- Yay for Polar Fleece. I realized that any tight clothing makes me ache later.
My shoes can't be at all heavy. They have to weigh next to nothing. I probably shouldn't carry a handbag. At all. (still figuring that one out...). Aha! moment...So that is why the "LL Bean Healthy Back Bag" made me feel like I dislocated my shoulder. Ugh.
Accessibility changes to our house are in the works...we will post more about that in the months to come! (Exciting but crazy, too.)

The MDA is Our Support, and They Need Your Support

What we're realizing is how Muscular Dystrophy is a chronic condition. It requires a lifetime of care.
(If you want to move in the US with this condition...you first check how far away the MDA Clinic is.)

We sit and wait to go into MDA Clinic, and others are in the same waiting room because they are seeing orthopedics for their broken leg. They are annoyed and want the cast off, and to be done with this. Well. Our care flows from season to season and to life between MDA Clinic appointments.

The care with MDA is so caring, professional, and complete. They literally organize the specialists to see you all at once, so you don't need to come back and forth to the hospital a million times a year if they can help it. The MDA doctors are linked to the other MDA docs in the country, so they are open to all research and trials and new ways of treatment. There is wrap around support from our local office in Harrisburg. Max's MDA Camp Director is AT his bi-annual MDA Clinic appts.

Max at MDA Clinic with Dr. Kumar...

Every week I am in contact with our support team at the MDA. We attend lock-ups, Harley Bike Nights, Shamrock visits, sponsor visits, special events, and this year, Ride for Life. Of course, these events wear us out. LOL...but they are fun! The work of our local MDA staff (it's a small office) is inspiring. The day before an event with us, they are somewhere promoting the work of the MDA. The day after, somewhere else.

The MDA kids are so brave, humorous, and bright. The kids develop interests that suit them like other kids, and they carry on. They fall down, and they get back up. They laugh at themselves and all the craziness that weak muscles bring (MD is messy!). You spill things, drop things, knock stuff over. They laugh and don't care. They LOVE MDA Summer Camp. They are close to their families who care for them. They are the coolest kids, with more hope than most adults will ever have.

Max with John, his one-on-one MDA Camp counselor, and with Mimi, his sister, at camp drop-off this year in June.

There has been so much research building up to this point....that some of the kids that Max is at camp with are reaping the rewards of  MDA researchers right now. Literally, some of his friends are gaining strength, they are not using their wheelchairs as much, and they are able to do tasks they couldn't before thanks to break-through medications.

Currently, for RYR1, there is a study right now at the National Institutes of Health testing N-Acetylcysteine. There is real research going on, and real hope- for us. There are real scientists (I can name them and email them!), who meet with each other both in the US and Europe- they are coming up with possible treatments, now.

If you or a family member ever needs the Muscular Dystrophy Association, you will meet people that support and inspire you, despite the odds. When you are weak, they are strong. When you need support like medical care, equipment, research, or someone who understands, you can call them. It's not now and then that you would hear from them. It's all the time. It's continuous care and support.
The children and adults with MD need ongoing care at the MDA Clinics around the USA, and the kids need to go to MDA Summer Camp...every year.

Take it from us, it's worth it. Thank you for supporting the MDA!

Join Us! Click Here!
Max's Super Hero Squad
MDA Muscle Walk Central Pennsylvania 2017

Sunday, January 15, 2017

Many tests

Here we are starting 2017 at Hershey on January 3. Max and I stayed overnight for his sleep study. But first, I needed pulmonary testing, and a CPK level.  Here's my view from the pulmonary booth. I had 70% diffusion capacity (?) -so I'm on the low end of normal.

 Here we are in the blood lab. My CPK came back low, just like Max's. I am glad for that because it's right in line with our RYR1 (I bet if it had been really high they'd run some more tests.)
 We went to the outlets and then out to Fuddrucker's.
 And then he started the sleep study. It was really hard to get to sleep with all this stuff. And with people *watching* you. We are still waiting on the results of this a couple weeks later.
 We followed up at the end of the week with his lung doctor. The doctor ordered a 6 minute walk test to see if Max needs supplemental oxygen! (I bought my own pulse ox and he has good numbers with me.) He said to keep on the current Flovent and Albuterol and come in with every cold. He'll be on steroids if he gets a cold:(. We're waiting to hear on the sleep study to see if he needs BiPap.