John’s Story

John was diagnosed with Ullrich’s CMD December 2010 at 2 ½ years of age.  By the time we got the diagnosis it wasn’t a surprise, but there was a long journey to get to that point.  John is the son of Jennifer and Charles and the younger brother of Owen.

John was born full term.  He was breech and the pediatrician noticed immediately that his hips clicked.  My husband and I noticed that his feet were up against his shins and I think we both said, “eww”.  But we just thought it was the way he was in the womb and his feet would return to a more normal position.  And they did.

An MRI showed that his hips were dislocated and John wore a Pavlik harness for about 6 weeks.  We were told that the Pavlik worked for about 90% of the cases, but unfortunately, that wasn’t the case for John.  So, when John was around 9 months of age he had surgery to put his hips back in place and was put in a spica cast for 3 months.  This really wasn’t that big of a deal for us.  We made do by building a special chair for him to sit in, and modifying our stroller by sticking a beanbag chair in it.  The hardest thing was that I missed being able to cuddle with him.  We were happy that modern medicine had caught the problem so early and we were confident that when he was out of the cast he would bounce right back and never remember when he got older that he was ever in a cast.  On the day that the cast came off I wasn’t really prepared to see his yellowy, scaly, withered legs.  I’m not sure what I was expecting, but it wasn’t that.  The orthopedic doctor said that kids have an amazing ability to bounce back and John would be back to normal in no time.  Our pediatrician said that that was probably true, but it wouldn’t hurt to get some extra help with a physical therapist.    I’m glad we took her advice and applied with the county for the therapist.

John did great with the therapist.  On the first day she was able to show him how to roll over from laying on his back.  Over the next couple weeks he began to crawl.  He couldn’t put pressure on his hands because they were very weak, but instead he pushed his head along the ground.  At first we assumed that his hands were weak because he didn’t have the opportunity for tummy time since he was in the cast.  But over time, it seemed that we couldn’t attribute the weakness to just a lack of tummy time.  Around this time our pediatrician noticed that John was dropping off the growth charts.  Because our older son was small, too, it at first didn’t seem to be an issue.  She gave him a diagnosis of Failure to Thrive, ordered a CT scan and some blood work, and sent us to see a neurologist.

I’m not terribly good with blood, and getting the blood work done was horrible.  The technician tried one arm on John, and didn’t have any luck, so he tried John’s hand.  He didn’t get enough for the needed tests, and he asked us to come back the next day.  The next day the same thing happened.  The technician said that he was having problems drawing John’s blood because his elbow didn’t extend the whole way.  He asked if I had ever noticed that, and I hadn’t.  Because of that we made an appointment with a physiatrist who didn’t think it was a big deal that John’s arms didn’t extend the whole way.  Around this time frame we went back for a check-up to the orthopedic doctor and found out that John’s hips weren’t healing as well as we would have liked, and he had to return to wearing a brace at nights.

We visited with the neurologist who did another series of tests and sent us to a geneticist, who in turn did another set of tests.  At this point it was obvious that John had weak hands and feet, and contractures at the knees and elbows.  Nothing turned up in the tests, however.   John continued to progress and the doctors all took this as a good sign.  Our neurologist wanted us to see a colleague who had more experience with muscular disorders.

In the meantime, our orthopedic doctor had us visit a colleague to look at the weakness in John’s upper body.   She said something that was our first glimpse that John’s problems may be more than we thought.  She implied that the physical therapy that we were doing for John was not going to stop anytime soon – in fact, she implied that perhaps he would always require therapy.  This was a shock to our thinking.  Then she said something that blew our minds.  She implied that the physical therapy was not so much to help John get better, but to prevent him from getting worse!  We hadn’t even considered that possibility.

Around this time our neurologist first mentioned the name Ullrich to us.  We of course googled this and were very scared at what we found.  The thing that stood out to me was that the bulk of those afflicted did not make it past their first decade of life.  I was stunned.  Because John seemed so healthy aside from the muscular issues, I had a hard time thinking this could be it.  We went to see the neurologist who specialized in muscular disorders and he had a couple more tests for us including an EMG.  This test indicated that it might be more of a nerve problem than a muscle problem, but he was quick to point out that the test was difficult to perform on a 2 year old and it might not be accurate.  He told us about a doctor who specialized in muscle disorders, specifically congenital muscular dystrophies, that was moving to our area.  He wanted us to wait until we could see this world-renowned specialist.  This was spring time, and the specialist was to be coming around the end of summer.

Turns out this specialist was Dr. Bonnemann.  We didn’t get in to see him until December 2010.  Longest wait of our lives.  John made tons of progress in the meantime.  He started wearing a brace on his legs at night.  That, along with new orthotics helped him to stand up straighter and begin to stand for short periods with no assistance.  He even began to take a few unassisted steps.  Charles and I found the curecmd.org site and began to read the stories of others.  Some things just rang such a bell with us, that we started accepting that John likely had Ullrich.  By the time we met with Dr. Bonneman, he only had to look John over for a short time before diagnosing him with Ullrich.  Fortunately, our biggest fear, that John may not make it beyond his first decade of life, was eased by the discovery that advances had been made in recent years to help with respiratory issues.

Our journey with Ullrich has just begun. We’ve just gotten over two croup attacks in a row.  They’ve left John thinner than we’d like and so we are considering a feeding tube to help him get his weight up.  His hips may be subluxed, and we’ll be going back to the orthopedic doctor soon.  We don’t know what the future holds, but we do know we are blessed to have John in our lives.  He is a bright, talkative, fun, and determined little guy.  We love him very much.  And we are learning to take each day as God gives us.

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  • Congenital Muscular Dystrophy

    A group of diseases causing muscle weakness at birth. Several defined genetic mutations cause muscles to break down faster than they can repair or grow. A child with CMD may have various neurological or physical impairments. Some children never gain the ability to walk, while others lose the ability as they grow older. Learn more...

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