Kyle's Story

Kyle was diagnosed through a muscle biopsy performed at Scottish Rite Children's Hospital here in Atlanta.  However she had a consultation by a Dr. Finnechel at Vanderbilt University a pediatric neurologist who is well known in the field of myopathies. She did have delayed developmental milestones and she did not walk until almost 3 years of age. Her initial diagnosis was benign hypotonia, which is an inclusive diagnosis versus an exclusive diagnosis meaning it is a catch-all term.She is followed by the Muscular Dystrophy Association, which has a monthly clinic at Scottish Rite Hospital.  However, Kyle is seen
every 6 months by a team  of physicians including her neurologist, orthopedic surgeon, physical and occupational therapists, dietician and yearly an EKG and pulmonary function tests are performed.
Kyle's main physical exercise is swimming. Sheperd Spinal Center is located in Atlanta which has a state of the art swimming pool especially designed for people with spinal cord injuries; therefore this pool is very maneuverable for Kyle. Kyle does swim in the summer at our local pool, but in the winter months
Sheperd's pool is available.
Kyle is currently in the 5th grade at our local public elementary school.  Next year she will be attending a private school for middle school. She does participate in P.E at school to the best of her ability. As I said before she is an excellent student and is well - liked.  I know Kyle would enjoy corresponding with you or anyone else especially a child with her condition.
From what I have learned MCM is a genetic defect that is carried on an autosomal recessive gene.  Therefore it requires both parents to have the autosomal recessive gene and then there is a 1 in 4 chance with every birth that the offspring will inherit the myopathy.  We have 2 other children that are unaffected with MCM. Also, according to all the physicians I have consulted it is their opinion that this is probably a nonprogressive disorder and so far this has been Kyle's case.  However, growth and weight gain can affect her stability and mobility.

Please continue to correspond and yes we would love to contribute to a website. Also, if you know of any other people with MCM please pass our name along for correspondence.

Please report broken links or non-working email addresses to famadio@cogeco.ca