Duchenne Muscular Dystrophy

 

“Never doubt that a small group of committed individuals can change the world.” – Margaret Meade.

The Friends Foundation is a small group of committed individuals that have changed the world through their support of so many local causes.  A portion of the proceeds from the 2014 Friends Foundation Holiday party will benefit the Kennedy Krieger Center for Genetic Muscle Disorders, and local families affected by Duchenne Muscular Dystrophy.

Duchenne Muscular Dystrophy is the most common fatal genetic disorder diagnosed in childhood, affecting approximately 1 in every 3,500 live male births (about 20,000 new cases each year). It primarily affects boys; however, it occurs across all races and cultures. Duchenne is caused by a genetic mutation in the gene that encodes for dystrophin. The lack of dystrophin results in the progressive destruction of skeletal muscles, beginning with their legs, progressing throughout the body, including the heart and lungs.

Duchenne is a brutal disease. Typically, boys with Duchenne lose their ability to walk between the ages of ten and fourteen. By their late teens, young men lose the strength in their upper bodies, including the ability to move their arms. Also during their teenage years, young men with Duchenne usually need help with breathing at night. Over time, their breathing or respiratory systems weaken, and they require constant support. Cardiac problems eventually occur with Duchenne and may start early or during the teenage years. Young men with Duchenne typically survive into their twenties or early thirties.

While there’s currently no cure, with informed and timely treatment, boys with Duchenne can maintain their independence, walk, and live longer than ever before. There is tremendous hope and potential cures in the pipeline.

Kennedy Krieger is wonderful facility that has provided children in Anne Arundel County with first class treatment and help. They help Duchenne families by working to delay the progression through proper medication, diet and quality care. Dr. Kathryn Wagner runs a research department working to find a cure.

Help us support those in our local community that have Duchenne, and Kennedy Krieger who is providing care and searching for a cure.

A local family’s story:

A friend asked me to show what Duchenne looks like and how it has impacted my family. This story is only through my eyes and there are countless others with their own story to tell.

 To me Duchenne looks like this:

 

It looks like a normal family, because Duchenne can hit any family.

 

Who would have guessed anything was wrong? Duchenne does not become symptomatic until a child is 2-4 years old, and even then it can go undiagnosed for years…

It happened.

My sister’s pre-school teacher alerted her to the fact that Jonathan would not climb up on anything at the playground. She took him to the pediatrician because she thought he might have hurt his leg on their trampoline.

Needless to say, the perfect child who we all would brag would be “her famous athlete” was diagnosed with a cruel and fatal disease. I will never forget the day my sister called me. She was hyperventilating, could hardly speak and chokes “the doctor says Jonathan might have a horrible disease ,and if he has it, he could die in his twenties” I was in shock and disbelief. He was only 3 years old at the time. I assured her it could not be true. We had no history of the disease, we were healthy, good, conscientious people. Not only was I naive, but also I was wrong.

Our lives were quickly turned into desperation. It was a summer of tests that only confirmed our worst nightmares. We all shut down. How do you move forward? No cure, and to us tremendous fear and pain.

 Life is now different for all of us. Life has changed. Jonathan is a happy, vibrant and HILARIOUS little stinker, but still in the honeymoon phase. These pics touch on what Duchenne looks like to me:

It means life is not always rosy but…

when someone as special as Jonathan touches your heart:

 He shows you life through different eyes.

You love your kids and never take them for granted.  You enjoy today and try not to think of tomorrow.

 You take risks.

You fall deeper in love with your own children by witnessing their true love and support.

AND the support of friends in the community:

 

 It is a race for us to find a cure.

 We will hold on,

   

enjoy all we can, never lose hope, and never stop until we find a cure. 

 

 

After all, we believe in super heroes like the Friends Foundation:

ADDENDUM:

Jeff Watkins is a local father whose son, Noah, has Duchenne. He is 31 now (incredible!) and loves to go to Orioles games and travel with his dad and brother. He clinic with Kathryn Wagner at Kennedy Krieger as well as Jonathan. Jeff shared some picture of Noah with me today. He is in the advanced stages of Duchenne and requires a chair and respirator to get around. He is truly a super hero.

He loves the Orioles…

 

 AND SPRING BREAK!

 

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