Michael Capolongo at the age of 4 was complaining of leg pain when running around the playground with his pre K classmates.
His pediatrician ran some bloodwork including the CPK level. The doctor felt that since he had met all of his milestones he would be fine. The next day the CPK level resulted at 43,000 where the norm was about 200. This indicated major muscle distress. Later genetic testing confirmed Duchenne Muscular Dystrophy, which is the leading fatal genetic childhood disease that affects 1 in 3500 boys. This disease is very progressive and affects all of the muscles in the body and ulltimately the heart.
Boys like Michael usually lose the abilty to walk by the age of 12. Michael is now 9 years old and in 3rd grade. Signs of the disease are present. He has difficulty with steps and running. Michael is under the care of a team of doctors at Kennedy Krieger Institute consisting of a neurologist, pulmonoligist and physical therapist. Michael is on a course of several medications each day as well as daily stretching and physical therapy, hippo therapy, acqua therapy and electrode therpy. He is part of a clinical trial at Johns Hopkins Hospital in Baltimore MD.
To date there is no cure for this disease and it is 100% fatal. Science and medicine are moving in the right direction. Better therapies are now becoming available. The outlook for boys with disease is extremely promising. It will take more hard work, funding and tremendous amount of hope and love to find a cure. We have started a non profit organization called Michaels Cause to raise awareness of this disease and direct all funding to the best medical and scientific research to find better treatments and a future cure for this disease.
About Duchenne Muscular Dystrophy (DMD)
Duchenne Muscular Dystrophy is a genetic disorder that involves rapidly worsening muscle weakness. It is a recessive x-linked (passes mother to son) form of muscular dystrophy. It results in muscle degeneration, difficulty walking, breathing and ultimately death. 1 in 3,500 boys are affected worldwide. The disorder is formed by a mutation in the dystrophin gene. One-third of all cases of Duchenne are the result of a spontaneous mutation, which means this could happen to anyone. Symptoms usually appear in male children by age 5. Progressive muscle weakness is first observed in the legs and pelvis, eventually leading to the arms, neck and other areas. Symptoms include pseudohypertrophy (enlargement of calf and deltoid muscles), low endurance, difficulty with stairs, getting up from the floor, running and standing unaided at times. As the disease progresses muscle is turned into fat or fibrosis. By age 10 braces may be required to aid walking and by 12 years usually wheelchair dependant. Later symptoms can include scoliosis and eventual paralysis. Intellectual impairment may be involved but does not progress with time. The average life expectancy for patients afflicted with this horrific disease is late teens to mid twenties due to complications of respiratory and/or cardiac function. This disease has a 100% fatality rate.