Elisabeth’s story

elisabethElisabeth was born in June of 2001. She was a very healthy, full-term baby and entered this world screaming at the top of her lungs, like most babies do. She seemed like a typical baby those first few months. I began to notice that she was a bit floppy at around the age of 4 months old.  We were in a mother-baby yoga class, and Elisabeth was content to stay in one spot the whole time. The other babies of the same age were kicking their feet, wiggling around, and beginning to roll over. Their mothers would tell me how lucky I was to have such a sweet, calm baby. 

When she still wasn’t rolling by her 6 month check up, our pediatrician reassured us that every baby develops at her own pace. It was exactly what I wanted to hear, but I still felt as though something was wrong. We put safety locks on all our cabinets and baby-proofed the house. And we waited. But Elisabeth never pulled the pots and pans out of the cabinets. She never tried to pull plants off the coffee table or remove the outlet covers. I longed for her to make a mess of the house. My friends thought I was crazy.

We continued to quietly worry about Elisabeth’s gross motor weakness. My husband is a pediatrician and I’m a family nurse practitioner. We sometimes wondered if maybe we were overanalyzing our daughter’s slow progress. I think we were hoping that this would just go away, that she would outgrow her floppiness. But sometimes I would see my husband checking her muscle tone and head lag when he thought I wasn’t looking. I had received one of those developmental milestone calendars as a gift when Elisabeth was born, and I stopped recording her achievements in it. It made me feel sick to my stomach to even look at it.

By 9 months of age, she had become an excellent roller. In fact, she rolled all over the house. (Once she got stuck under the couch!) But by her 1 year check up, we both knew for certain something was very wrong. She was happy, eating well, gaining weight, and even saying several words. She was an early talker and very observant. But she wasn’t able to sit up without help, still had head lag, and was not even close to crawling. And this time, much to my disappointment, her pediatrician agreed with us. I was kind of hoping she would say that she saw this all the time and it’s normal. But she didn’t. Instead she ordered a CK along with her routine 1 year labs.

I got the call two days later from my husband. I knew from the tone in his voice that he had bad news. He told me that Elisabeth’s CK level was over 7000 and that we needed to see the neurologist and have more labs drawn. Both of our hearts sank–we knew that this wasn’t good. In retrospect, I’m glad that we didn’t get this diagnosis any earlier. It wouldn’t have changed anything, and I’m grateful that I had that first year of motherhood without thinking about muscular dystrophy.

That’s how our journey began as we tried to understand more about this rare disease. Elisabeth had her muscle biopsy done at Children’s Hospital in Boston, and we were given the news (over the phone) that she had merosin-positive CMD. We soon realized that her diagnosis wasn’t very specific. Physical therapy through Early Intervention was started. After visits with the neurologist, geneticist, physiatrist, and orthopedist, not to mention a variety of tests, we still felt like we had no idea of what to expect.

So we began to research everything we could find. When Elisabeth was 2, we got in touch with Dr. Kevin Campbell’s laboratory at the University of Iowa and sent some of her muscle biopsy sample to him. Later that year, we also took Elisabeth to London to see Dr. Francesco Muntoni. We returned to London a few years later to see Dr. Muntoni again. He worked with Dr. Campbell on some research which led to more information regarding Elisabeth’s type of CMD: she has some form of alpha-dystroglycanopathy, not yet typed. We have been told that her heart and respiratory muscles will likely be affected. We don’t know when or to what extent.

As time has gone by, I guess we have accepted that we won’t have all of the answers or a clear idea of how this disease will progress anytime soon. I don’t spend nearly as much time researching and looking for answers as I did the first few years after she was diagnosed. I feel a certain peace of mind knowing that our daughter has been evaluated by some of the top scientists and medical doctors in CMD research. If they don’t have the answers, then no one else does. And I know someday they will have the answers. I send them annual Christmas cards with her picture to remind them we’re still here, waiting to hear their latest discoveries.

Every 3 or 4 months, I google “CMD” to see what’s new. That is how I found this organization and web site. I wish Cure CMD had existed 6 years ago. My focus now is making Elisabeth’s life as normal as possible–whatever that may be. Now that Elisabeth is old enough to realize she has muscular dystrophy, and she won’t outgrow it, she sometimes feels frustrated that she’s not able to do some of the activities that her peers are involved in. So we focus on finding solutions to these problems. Elisabeth is currently working on her own invention to help her stand on ice skates! It has been her dream for the past 2 years to be a skater.

At this time, Elisabeth is 7 1/2 years old. She attends 2nd grade full time and does extremely well in school. She is very smart (I can’t help bragging!). She uses a manual wheelchair for longer distances, but walks in our home and in her classroom. She uses a stairlift to go upstairs and is supposed to wear SMO’s on her feet (however, she hates to wear them). She gets physical therapy 3 times per week. She is starting corticosteroid therapy to see if that can improve her strength, or at least slow the progression of weakness. She is a happy kid, has some nice friends, and loves to read, swim, ride horses, sing, do arts and crafts, and loves High School Musical (all 3 of them). She belongs to the local Brownie troop and chorus. She recently became a big sister to 6 year old Sonia and made the trip to India to bring her new sister home. She says she would like to be a contestant on American Idol when she grows up and maybe would like to be a music teacher or an art teacher. We are hopeful that someday she will fulfill her dreams.

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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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