The Foye Family live in New Jersey, USA; Adam Foye has been diagnosed with autosomal recessive centronuclear myopathy and his parents Pat and Sarah are the founders of the Foye Myopathy Project in the USA.
Our son, Adam, now 6 years old, has been diagnosed with autosomal recessive centronuclear myopathy (CNM).
Adam 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 (e.g. lifting his head, rolling, etc).
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.
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.
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.
Adam attends regular, mainstream school with a nurse on hand for when he's sick. He is in first grade.
Adam is a great little guy and he takes his medical challenges in stride. He loves art, playing computer, dinosaurs, volcanoes and playing with his buddies on playdates.
Around 4 years old, Adam developed scoliosis (sideways curving of the spine), which continues to worsen. 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.
As his parents, we 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.
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.
View Adam's website