Angels for Isaac - "Never Give Up Hope"
Fighting to Find a Cure for Duchenne Muscular Dystrophy
My name is Isaac Clark, and I'm a 9 year old boy who is battling Duchenne (due-shen) Muscular Dystrophy. My diagnosis came in November 2010 from Cincinnati Childrens Hospital when I was 13 months old. If you've never heard of Duchenne, that's okay because there are hundreds of people who haven't.
Since my diagnosis my family has learned everything there is to know about Duchenne. Duchenne Muscular Dystrophy is rapid muscle wasting disease that is considered genetic. Typically the gene that causes Duchenne come from mother to son. However, my Mom's genetic tests show she does not carry the gene. The doctor's therefore consider the reason I have Duchenne is due to a fluke gene mutation. Because of the way the disease is inherited, boys are more likely to develop symptoms than girls.
Since my diagnosis my family has learned everything there is to know about Duchenne. Duchenne Muscular Dystrophy is rapid muscle wasting disease that is considered genetic. Typically the gene that causes Duchenne come from mother to son. However, my Mom's genetic tests show she does not carry the gene. The doctor's therefore consider the reason I have Duchenne is due to a fluke gene mutation. Because of the way the disease is inherited, boys are more likely to develop symptoms than girls.
As crazy as this sounds, Duchenne occurs in 1 out of every 3,500 boy babies born across the world. Symptoms usually appear before age 6, and may appear as early as infancy. For me, my Mom and Dad said they noticed that I was always tired. They also noticed that I didn't do all the "normal" things babies do when it comes to being able to sit up on my own or crawl. When I was 3 months old I began having problems with upper respiratory stuff like constant coughing, runny nose and that sort of thing. In trying to find out what was causing that, a blood test was ordered by a neurologist. The blood test showed my CPK levels were off the chart which the short of that meant my muscles were breaking down rapidly. Shortly after that I had a muscle biopsy done , and also a genetic test. The results of the muscle biopsy showed I have little to no dystrophin in my muscle tissue, and the genetic testing confirmed I have Duchenne Muscular Dystrophy.
If you suspect someone you know might have symptoms of Duchenne here are a few things to look for: fatigue; muscle weakness which begins in the legs and pelvis, but also occurs less severely in the arms, neck, and other areas of the body; difficulty with motor skills (running, hopping, jumping); frequent falls; rapidly worsening weakness; progressive difficulty walking.
The sad truth about Duchenne is that over time the muscles get weaker and weaker causing things to get worse and worse. I lost my ability to walk over the Thanksgiving Holiday in 2018. Now I require the use of a wheelchair full time to get around. The disease will also affect my trunk muscles and even my arms and hands. Most boys who have Duchenne are using wheelchair full time by the age of 9-12 years old. Over time my heart and lungs will also become affected. The really sad thing that most people do not know about Duchenne is that it is 100% fatal, and currently there is no cure.
There are so many types of Muscular Dystrophy, over 40 I'm told. Some types are very dangerous and serious like Duchenne. Other types are very minor. Most boys with Duchenne do not live into their 20's.
There are a lot of people who think if you have a muscle disease, then the best remedy is to exercise more and workout. When it comes to Duchenne this can be extremely dangerous. When my muscles breakdown from exercise my body doesn't have all the things it needs to rebuild the muscle back up. In fact my muscle tissue begins to die. Boys with Duchenne have very large calf muscles. Many people think they have big muscular legs. When in fact this is basically dead muscle tissue.
There is currently no cure for Duchenne MD. The only real treatments available aim to control symptoms to maximize quality of life.
My Mom, Dad and Sister do everything they can to give me the best quality of life. I am extremely grateful to have my family. The support I get from our family and friends is nothing short of amazing!
If you suspect someone you know might have symptoms of Duchenne here are a few things to look for: fatigue; muscle weakness which begins in the legs and pelvis, but also occurs less severely in the arms, neck, and other areas of the body; difficulty with motor skills (running, hopping, jumping); frequent falls; rapidly worsening weakness; progressive difficulty walking.
The sad truth about Duchenne is that over time the muscles get weaker and weaker causing things to get worse and worse. I lost my ability to walk over the Thanksgiving Holiday in 2018. Now I require the use of a wheelchair full time to get around. The disease will also affect my trunk muscles and even my arms and hands. Most boys who have Duchenne are using wheelchair full time by the age of 9-12 years old. Over time my heart and lungs will also become affected. The really sad thing that most people do not know about Duchenne is that it is 100% fatal, and currently there is no cure.
There are so many types of Muscular Dystrophy, over 40 I'm told. Some types are very dangerous and serious like Duchenne. Other types are very minor. Most boys with Duchenne do not live into their 20's.
There are a lot of people who think if you have a muscle disease, then the best remedy is to exercise more and workout. When it comes to Duchenne this can be extremely dangerous. When my muscles breakdown from exercise my body doesn't have all the things it needs to rebuild the muscle back up. In fact my muscle tissue begins to die. Boys with Duchenne have very large calf muscles. Many people think they have big muscular legs. When in fact this is basically dead muscle tissue.
There is currently no cure for Duchenne MD. The only real treatments available aim to control symptoms to maximize quality of life.
My Mom, Dad and Sister do everything they can to give me the best quality of life. I am extremely grateful to have my family. The support I get from our family and friends is nothing short of amazing!
