Now we are ten: Adam’s story

This story first appeared in the Information Point newsletter Our World in 2011, the year the Information Point celebrated it’s tenth birthday.  To mark the occasion, we asked some parents with children also celebrating their tenth birthday this year, to reflect on the challenges and achievements of their first ten years. Adam’s parents Sarah and Pat continues the story below.

Earlier this year our son Adam celebrated his 10th birthday. Like every other family affected by centronuclear myopathy, we always wonder what the future will hold. So we rejoice in the completion of Adam’s first decade of life!

Adam is diagnosed with autosomal recessive centronuclear myopathy (CNM). He had a normal birth and was a healthy infant but we soon noticed that he was not meeting his motor milestones like a typical child, for example lifting his head and rolling over.

By 6 months old, several doctors and therapists evaluated him and it was suspected that he had some type of myopathy (muscle disorder). At 13 months old he had a muscle biopsy that confirmed the diagnosis of myotubular myopathy (MTM). We even had the muscle slides sent to another hospital for a second expert opinion, which agreed.

Next, Adam had the genetic test for MTM1 at the University of Chicago. Although most boys with MTM test positive for this mutation, Adam did not. Thus, it is assumed that he has the autosomal recessive form, rather than the X-linked form. It was because of his biopsy results, his negative MTM1 test and his milder severity of deficits that the doctors gave him the diagnosis of autosomal recessive CNM. Over the course of the next decade Adam was tested for every known gene associated with CNM that became clinically available (DNM2, RYR1, BIN1) but they all turned up negative.

Adam started walking (very wobbly!) at 15 months of age. He never crawled because he did not have the head / upper body strength to do so. It was clear that there was nothing wrong with his mind – as he was always learning new words at a very precocious rate.

Adam attends regular, mainstream school with a 1:1 nurse on hand. He is in fourth grade and is a straight-A student. Adam is a great little guy, taking his medical challenges in stride. He loves playing and designing video games and playing with his buddies friends.

Around 4 years old, Adam developed scoliosis (sideways curving of the spine), which continues to worsen. He wears a Providence scoliosis brace at night. At age 6, he started on a ventilator (breathing machine) at night to treat hypoventilation (not breathing well enough) which occurs when he sleeps. When he has a respiratory infection (e.g. a head cold or bronchitis), he uses a Cough Assist machine to suck out secretions from his lungs, to prevent pneumonia. He has never been intubated nor had a tracheostomy. He uses the Cough Assist twice a day for lung / chest wall health and development and range of motion. At age 8 Adam got a feeding tube. This helped tremendously with is growth, nutrition and management during illnesses.

As his parents, Pat and I are so proud of him and how much progress he has made. We have committed ourselves to the goal of finding breakthroughs and treatments for Adam and others with myotubular / centronuclear myopathy.

One of the things that have helped us the most on this journey has been connecting with other families with this disease. We have been touched, moved and inspired by the outpouring of support that we have received from family, friends and others in our community and around the globe. Working together with families and researchers from worldwide, we know that we all can make a difference. We are grateful for the role that the Information Point has played in this.

Happy 10th Birthday, Adam and the Information Point!


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