Benjamin and Lucas’ story

benOur son, Ben, was born after several years of infertility and much yearning for a blessed child. He was born following a grueling labor and an eventual emergency c-section with the most beautiful face and abundance of black hair like his Dad. He appeared to be a completely healthy child according to our pediatricians.

I noted from the day he was born that some things didn’t seem quite right. First, he seemed floppy to me, his legs and buttock muscles looked atrophied. His sucking reflex was weak (though he could drink from a fast flow nipple very well). These observations were dismissed by the doctors. I was told there was nothing to worry about, but I had my doubts.

Ben met his milestones well. He rolled, sat, crawled on time and was a non-stop talker. However, he would not bear any weight on his legs. He did eventually pull up one day to a stand at 12 months (without ever really bearing weight). He started walking independently around 15 months of age. When he started walking and pulling up, I noticed that he did it from a squat position and his gait was abnormal. He also still had a hard time with foods and drooled.

At my insistence, I finally received a referral to a neurologist – though my pediatrician found me to be worrying for nothing. This began the grueling and frightening trip into finding a diagnosis and many appointments for physical, occupational and speech therapy.

What subsequently followed was a slew of doctor appointments, including: neurologists, orthopedic doctors, geneticists and physical rehab medicine specialists. After seeing his third neurologist (who happened to be a specialist in neuromuscular diseases), we felt we might get some answers. CPK tests were normal – his EMG showed a myopathic pattern in his leg and a normal pattern in his deltoids. We scheduled a muscle biopsy. His test results came back CMD – Merosin Positive from his hip area – though normal results in his deltoid.

I wasn’t satisfied with a diagnosis by exclusion and sent his muscle to a renowned specialist in California who stated the biopsy slides were inconclusive and not readable. We then sent remaining frozen muscle at her insistence to Hammersmith Hospital in London. They had the capability of running many more tests on the muscle including some of the newer protein assays that were not available in US laboratories at the time. Hammersmith concluded that without seeing the child, the biopsy could be myopathic. However a conclusive diagnosis could not be made.

The muscle biopsy was then sent to Dr. Bonnemann at CHOP. With approval from our neuromuscular doctor, they decided to test further for collagen studies due to Ben’s physical presentation of hypermobility and some mild contractures in his fingers. They also tested to see if there might be a dysfunction in the RYR1 receptor (frequently involved in Central Core Disease) due to the pattern of muscle loss on his MRI. The results came back negative again.

At this point, Ben’s muscle resides with Dr. Bonnemann with the hope that more tests will become available in the future. As it stands, Ben is diagnosed as CMD/Congenital Myopathy Not Otherwise Specified (NOS).

Ben is now 8.5 years old. He continues to do well and ambulate very well and he is stable so far. His main issues due to his hip weakness are climbing stairs, inclines or anything that requires hip strength. He also has some weakness in his hands and the dexterity in his fingers is affected. Fatigue can also be an issue, but on most days he does well. His oral weakness has improved throughout the years. He can eat almost anything now and his drooling is practically non-existent. His speech has improved due to therapy. He is a smart, creative, vivacious boy whom everyone loves just upon meeting him.

lucas1We also have 4 year old twins – Lucas and Ava. Lucas’s weakness pattern follows his brothers (though to an even lesser extent and wasn’t noticeable until he was around 2.5). He does not have joint hypermobility and only very slight oral motor weakness. His gait appears normal. Similar to his brother, his weakness is most noticeable when he engages in an activity that requires hip strength (stairs, inclines, running). Their sister, Ava, is not affected. We have decided at this time not to put Lucas though all the tests.

We are very fortunate that our sons are doing so well. We have no idea what the future holds and hope that one day, we can get a definitive diagnosis and there will be a cure for all those affected by CMD.

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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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