The Monster Has a Name

Today, it was confirmed that Harry has Emery-Dreifuss Muscular Dystrophy.  I can’t believe that this monster stealing his strength has a name.  It feels surreal and uncomfortable, but also final and reassuring.  Let me elaborate.

Our first round of genetic testing was the myopathy panel.  Myopathies are the cousins of dystrophies, and they are different in that they are usually not progressive.  The negative that came back from that panel was a tough blow, and we really mourned the loss of that possibility.  Josh held on to hope that they were wrong, while I dealt with the horrible fact that my poor little man did indeed have muscular dystrophy.  There was talk about the next step being a muscle biopsy, and I dragged my feet, not wanting to put him through unnecessary surgery.  I put faith in my doctor that he would come to a good conclusion as to what genetic test to run next (each type is done one at a time, usually).  In our December visit, the physical therapist noted some contractures in Harry’s ankles and elbows.  My doctor said that led him to suspect EDMD, and we started the process for the genetic testing, which got a bit delayed but was done eventually.  At the time I wasn’t convinced EDMD was a possibility.  I was sure that the contractures were secondary to his braces and his limited range of motion in his arms.  My physiatrist agreed with me, and when I heard our results for this test were in I was convinced it would come back negative.

Yesterday I received a call from the CHOP Neuromuscular clinic that the results were in, and we were scheduled to come in today in the morning for an appointment to discuss them.  The clinic no longer gives results over the phone, as it allows them to bring a team together to fully discuss what they mean.  I hate to wait but didn’t suffer that much because I was convinced the results were negative.  I was dreading the muscle biopsy and the continued wonder of what was living inside Harry.

When my doctor confirmed EDMD I was utterly shocked.  I think I might have laughed, or at least wanted to.  My husband was shocked and spent the appointment sitting in silence, taking everything in.  I did what I do best – jabbered on and on and on.  The geneticist was in the meeting with us and was a great help to sort out what this means to us. The next step is to see if Harry inherited the problem or if it just occurred in him.  We have a lot more to do, but at least we have direction.

Let me say now that I firmly believe that this does not define Harry or his life.  No matter what type he has, the “good” part of muscular dystrophy is that each patient is an individual.  Patients with EDMD or any other type of MD go through different journeys and have different outcomes and different types of progression.    However, knowing what type he has we can watch out for certain things.  The “triad” of EDMD is weakness in the shoulders, neck and calves, contractures in the joints (specifically ankles and elbows), and cardiac electrical problems such as arrythmias.  You can have one, two, or all three of these things.  If I am a carrier, I need to have my heart fully checked and my family might too, same thing for Josh.

I can spend my time looking in to what other’s lives have been, but I choose not to.  I will network with families, but I will treat my son as the individual he is.  I want to be very, very clear with what I am about to say, and very honest.  My Harry man is the most special little man in my world.  I will not spoil him, I will teach him how to work hard and earn what he wants, but I will walk through fire for him.  I will spend my life showing him the world, and making every opportunity available to him.  We will kick EDMD right in the ass because we will not be a slave to it, and it will not define him.  Harry is a bright little boy learning who he is and what he is capable of.  I will always teach him to keep on trying, and that he has EDMD but it does not have him.  I will spend my life advocating for him and others like him.  I will strengthen my muscles as he strengthens his.  This is just the beginning.  This is our dragon, and we will slay the shit out of it.

We spent the rest of today at the Please Touch Museum in Philly because today deserved some fearless exploration, and we enjoyed the hell out of it.



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6 thoughts on “The Monster Has a Name

  1. I love that you made an adventure out of your day. Everything about this post shows what a strong and awesome mom you are. And Harry looks like he would make a great astronaut 😉

    • I had to wait on the camp post but that will be for tomorrow, today was a big day! And thanks! Also, I totally agree that Harry looks like an awesome astronaut.

      • I was really glad to hear that you got some answers today. I obviously cannot fathom what you are dealing with but I know you have been waiting a long time for this. I am glad to hear that Harry is doing well and I think more than ever that he is one spectacular little guy!

  2. Harry is a beautiful boy, and blessed to have you as his Mama! I’m sure you have been given info about the Muscular Dystrophy Association. As someone with ALS, I cannot say enough about the support they provide to families dealing with muscle disease. They truly have our backs. God bless you on this journey. Patty

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