Doman's Biopsy Results

We found out Doman's muscle biopsy results several weeks ago, but I'm just now starting to talk about it without crying. The biopsy showed that he has a rare form of Muscular Dystrophy called Ullrich's Congenital Muscular Dystrophy (UCMD).

Partly I've put off posting anything because we've been waiting for his genetic test results to confirm 100% the diagnosis. We got those results last week and they turned out to be very "interesting" as our doctor put it. They are quite intrigued in Doman's unique case which is awesome because his doctor keeps moving us along instead of making us wait the 8 months until his next opening. Anyway, there is a chance Doman has something even more rare, but it's still in the same family as UCMD. It is called Bethlem Myopathy, and it's typically less severe than UCMD. We're learning all kinds of things about DNA, mutations, collagen, proteins, autosomal dominant and autosomal recessive genes. Our bodies are so incredibly complicated! Today both Dan and I went down to Stanford to have the genetic testing done on ourselves and our doctor is confident they'll be able to tell if it's UCMD or Bethlem. Crazy! I can't believe how far we've come and how close we are to a final diagnosis!

So what is it going to be like for Doman to have UCMD or Bethlem? The degree of severity and the rate of progression varies widely with each child, so it's too hard to predict exactly what we're to expect. Basically all kids with UCMD and Bethlem can expect their muscles to progressively get weaker over time. With UCMD kids usually lose the ability to walk early in life and could have severe respiratory problems amongst other complications. With Bethlem, they usually don't see severe weakness until they are middle-aged, but since Doman already has severe muscle weakness, we would have no idea what to expect.

Of course there is no cure to either, but he'll always be in physical therapy to help avoid the muscles contracting and becoming weak and stiff. He has some new leg braces (which we're struggling with so far), and there will be other devices he'll get as they see the need. He'll likely have multiple surgeries throughout his life to help him where needed as well. We'll join the Muscular Dystrophy Association and have a clinic to support whatever we need.

Obviously this has been hard for us to deal with. Dan has handled it much better than me and I'm glad because I really need his positive perspective on the whole thing. As we've been searching for the past couple of years for what has caused Doman's muscle weakness, I've always hoped we'd find out it was something that was either going to get better with time, or something that would be easily treated. I didn't really think we'd ever find out it was a genetic defect he was born with that he'd live with his whole life. Of course no parent wants to see their child live anything but a normal life, right? And I've been so sad realizing he'll never be a little boy that can run and jump, play soccer, go hiking, and do so many other physical things we all take for granted.

At the same time, we have felt incredibly blessed. Doman has the sweetest spirit in the whole world and he is completely happy and content. It is incredible how amazing he is for the many doctor appointments he goes to. He has become more and more aware of his physical limitations, and he accepts it as part of who he is. We're also beyond fortunate to be living in this area while he is so young. These are such rare forms of Muscular Dystrophy and I'm certain it would have been many, many years before he was ever diagnosed if we didn't live here. So if this turns out to be the only reason we were meant to come to Berkeley, then I'll never complain!

We really appreciate everyone who has always been so concerned for little Doman. He is lucky to be such a loved little boy! It feels so good to know we have such a strong support group from our family and friends. Thanks to all my sweet friends who have had to be around me while I've cried and cried. Now I'm ready to move forward and be that great support to Doman that he'll need throughout his life.

I'll post an update as soon as we get the genetic test results with hopefully the final diagnosis!