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TYPE: GENE BASED
GENE: DMD
PROTEIN AFFECTED:
dystrophin

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TYPE: gene-based
GENE: DMD
Protein Affected: Dystrophin

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Details about person with disease.

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My heart was beating so fast, anxiety creeping into my body. It felt like everything stopped. I can't remember her exact words, but I distinctly remember the fear that took over me and the tears spilling down my face. Was this reality? My beautiful, loving, smart, and otherwise healthy son was suffering from a fatal genetic disease? Up to that point he met all of his milestones, he was never behind on anything, and he had no sign of physical illness. How could this be? From that point the conversation only got more bleak.

Statistically, boys with Duchenne don't make it out of their twenties. Over time Aiden will lose his physical capabilities one by one. His muscles will deteriorate and grow weaker leaving him unable to walk and unable to feed himself. The disease will eventually hinder his breathing and eventually his heart function. He could lose his ability to dance, hug, and to smile. His smile lights up every room and brings joy and purpose to my life on a daily basis. I cannot imagine the world without it.

We left the office that day in a state of shock. How were we going to deal with this? In the following weeks my family struggled to come to terms. It felt like a mourning process. We didn't know what to do, but we knew we couldn't just stand by and do nothing. I took to research with the drive to learn everything I possibly could about Duchenne. I wanted to ensure that my son would have the best life possible. It was then that I stumbled upon the CureDuchenne website and began reading about all of the promising treatments in the Duchenne pipeline.

CureDuchenne's vision is in their name, to cure Duchenne muscular dystrophy. Reading that was the first time I felt a glimmer of hope. I immediately reached out to Debra Miller, CureDuchenne's founder and CEO. As a Duchenne mother she's just like me. I wanted perspective and I wanted to be involved. She was very receptive to me. I got to sit down with her and a very knowledgeable scientist. We had an in depth conversation about the disease, about her experiences, and we talked about hope. Yes, hope. You see, in the world of Duchenne, that is what you hold on to. That is what keeps you going. CureDuchenne's mission is to treat this disease as a whole. There are many aspects to Duchenne and they understand that. They have made a commitment to treatment and to bring options to all of our boys who suffer. Their entire team is dedicated to their vision to find a cure.

I ask you, as a mother who could never be whole without her child, to please help us help our sons. We rely on your generosity to bring viable treatment options to life so that every single Duchenne boy can know a life without suffering. These boys deserve to ride bikes, to climb stairs, to run, to keep up with their friends, to play sports, and just feel free like a kid should. We can't afford to lose another generation of boys.

The cutting edge science is here and the time is now.

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"My son Aiden was diagnosed with Duchenne Muscular Dystrophy on June 2, 2015. He was 3 at the time. That date will forever be etched in my mind. It was then that every hope and dream for my son's future was shattered. When the doctor walked into the exam room that day, my intuition told me this wasn't going to be good news..." - CureDuchenne

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My heart was beating so fast, anxiety creeping into my body. It felt like everything stopped. I can't remember her exact words, but I distinctly remember the fear that took over me and the tears spilling down my face. Was this reality? My beautiful, loving, smart, and otherwise healthy son was suffering from a fatal ...

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The causes of Duchenne muscular dystrophy is a mutation in the DMD gene. The DMD gene provides instructions for making  protein called dystrophin.

This protein is located primarily in skeletal and cardiac muscle

Mutations in the DMD gene prevent any functional dystrophin from being produced. Muscle cells without enough of this protein become damaged. The damaged fibers and die over time, leading to the muscle weakness

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Muscular dystrophies are a group of genetic conditions characterized by progressive muscle weakness and wasting.

Muscular Dystophy happens mostly in men

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muscular dystrophy
Muscular Duchene and Becker      gene-based GENE:  DMD PROTEIN AFFECTED:Dystrophin -

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X linked recsssive The damaged gene is located on X chromosome. Males that inherit this gene from their mothers will have the disease.

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Between 400 and 600 boys in the United States are born with these conditions each year. This disorder is more seen in males