Duchenne Muscular Dystrophy- Our Story

This one is a little out of order but it's mainly because I didn't want to write it.......

So in April of 2015, we took Frankie to Dr. Appleman to get his feet checked out because he walked with an inward tilt.  He also couldn't run very fast and could barely jump, we got inserts for his shoes and kind of wrote it off. Fast forward to April 25, 2016: I took Frankie back to see Dr. Appleman for his 1 year check up.  Frankie did great at the appointment unlike when we saw him one year sooner.  Dr. Appleman had him do all kind of things like walk, run, jump and squat down.  He mentioned a few things that he was concerned about and said that we might want to follow up with his pediatrician.  My heart was racing and I could barely remember anything he said, but "gower sign" was the only thing that really stuck out.  I didn't want to panic, but that was all I could think about.  I picked up the other kids, came home and cooked dinner.  As I was cooking I decided to research  "gower sign".  I learned that "gower sign" is a way of using your upper body strength to help you stand up from a sitting position.  I thought, yeah that does seem do this when he gets up from the floor.  Gower sign is linked to Duchenne Muscular Dystrophy (DMD), so of course I read an article on that.  I am trying not to freak out, but reading all the signs and symptoms, Frankie seemed to have a text book case of DMD.  I keep it to myself until the kids went to bed, then I talked to Trey about it.  He kept a level head and said not to worry about it until tomorrow when we can talk to his doctor.  I worried about it all night, I managed to go to work for a very short time but the worry and fear got the best of me.  I came home and Trey and I both had a good cry then we called the doctor and made an appointment to get some blood work done later that day.  He had his blood drawn for a CK which test for an enzyme expressed from muscular tissue.  We waited about half the day to get the results back.  He doctor called and we were at the park killing time.  I was shaking but trying to keep it together, I think in mind I already knew the answer..........his CK level was 17,000.  A normal range is 100-250.  My heart sank, this was definietly not the news I wanted to hear about my sweet boy.  This was seriously the worse day of my life so far.  My poor sweet boy.  If you read anything about Duchenne then you know that it is most of the time hereditary and mainly affects only boys.  Being a mom of 3 boys I am sure you can read my mind at that time.

Trey did some research and found the doctor that we wanted to see but of course her waiting list was a half a year long.  We didn't feel like we wanted to wait to get the ball rolling until August so we took an appointment at Cardinal Glennon the following week.  We actually went on Wednesday (May 4th) and Friday (May 6th) to see different doctors who both thought he had DMD.  They re-did the CK and took extra blood to send off to the lab that would test it for muscular dystrophy.  The test takes 6-8 weeks to get the results back.  We decided to not let it ruin our summer and just kind of act like it wasn't happening.  Frankie didn't really ask any questions so we really didn't tell him anything.  We just told him that the doctors had to check his muscles, because in all honestest that is all that had happened so far.

Now that we are all up to speed....on August 9th we finally had our appointment with Dr. Ann Connolly at Children's hospital.  We both kept it together very well, probably because we had already been processing it for several months.  Dr. Connolly confirmed that he does in fact have Duchenne Muscular Dystrophy and went into great detail for us.  She was super impressed that we pretty much knew most of the things that was was telling us and that Trey had knowledge of every clinical trial that she spoke to us about.  Frankie did a great job and answered all of their questions and did everything that was asked of him.  I think he even said that he had fun! 

Treatment for Frankie as of now is lots of stretching and to stay as active as possible.  The key is to be super active without getting to exhausted.  So basically we just let him do whatever he wants but trying to not let him over do it.  He will also take 75 mg Prednisone every Friday & Saturday.  She said that physical therapy isn't needed at this point since we are so active already.  He will also wear night boots every night, which will keep his ankle and shins at a 90 degree angle while he sleeps. 

Lunch break selfie.

Getting fitted for his night boots.

He did this like a BOSS!!

He earned whatever Lego set he wanted for being so brave!

She suggested getting Colton and Jaxson's CK levels tested so we can find out if they also have it.  In my mind I knew that Colton was fine but thought for sure Jaxson had it. :(  We got the test done.  Colton's level was 100 and Jaxson's level was 28,000.  I took it better than I thought I would but it was still a punch in the gut.  From the day Jaxson started walking, I just knew that he DMD just by the way he stuck his shoulders back when he walked.  Since we already had a "in" with Dr. Collonly she was able to get us an appointment the next month (September).