Today is World Duchenne Awareness Day and pictured above is Aidan, who is one of the many faces of Duchenne. But what, you may ask, is Duchenne?
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). Because the Duchenne gene is found on the X-chromosome, it primarily affects boys; however, it occurs across all races and cultures.
Duchenne results in progressive loss of strength and is caused by a mutation in the gene that encodes for dystrophin. Because dystrophin is absent, the muscle cells are easily damaged. The progressive muscle weakness leads to serious medical problems, particularly issues relating to the heart and lungs. Young men with Duchenne typically live into their late twenties.
And who is Aidan? Aidan is my friend’s son.
Aidan is an energetic 8 year old with an unrelenting spirit. He loves superheroes, video games and Legos, enjoys playing adaptive league baseball, and therapeutic horseback riding. One of his favorite things to do is go to the pool, and he is beaming with confidence after recently learning to swim and snorkel. He has a heart for animals, is a loyal friend, and has a joyful laugh that has to be heard to be described. Aidan was honored by being chosen to go to Disney World with Kidd’s Kids in 2012, where he had the time of his life.
As an infant, Aidan could not lift his head during tummy time and cried almost constantly if he was not being held. His parents were assured that he was “just spoiled”. Although he achieved milestones markedly behind his peers as a toddler, Aidan did progress, and developmental screenings returned results just within normal range. With no family history of genetic disorders, Aidan’s parents never dreamed of such an explanation, yet knew there had to be something causing their son to struggle. Over the next few years, they unrelentingly sought to find an answer, seeing dozens of medical professionals–multiple neurologists, diagnosticians, physical therapists, and occupational therapists. They waded through insurance battles and misdiagnosis. When Aidan was 6, and still unable to run, hop or pedal a bike, he began seeing a new physical therapist who happened to have previously volunteered at a Muscular Dystrophy camp. After several months and no progress, she recommend that Aidan see his neurologist. After reading the PT’s notes, the neurologist sent Aidan for blood work.
Two weeks after his 7th birthday, Aidan was at the park with his mom when she received a phone call that brought her to her knees. Genetic testing had revealed that Aidan suffered from Duchenne Muscular Dystrophy, a fatal disorder, with no effective treatment. Reality, in that moment, turned upside down for Aidan’s family.
Aidan now has a team of doctors that are on the forefront of Duchenne care, and his family has dedicated themselves making every moment count. In the short time since his diagnosis, hope has appeared on the horizon. Thanks to advocacy and research, for the first time, promising clinical trials are underway that are changing the outlook of Duchenne Muscular Dystrophy. Once again reality has turned upside down as the impossible becomes possible. – cureduchenne.org
I have watched my friend struggle to get to the diagnosis stage, a struggle I knew so very personally. The thought that her journey lead them to this sort of diagnosis was hearbreaking. Watching how they have handled this diagnosis has been nothing but inspiring. They do live life to the fullest, Aidan and his family, and they’re working hard to bring awareness and fight for a cure. I want that cure for them, and so, I will help bring awareness on this day. Maybe ask you to take a break from the ice bucket challenge and donate here instead. Repost this post even. Release a virtual balloon on your Facebook page today.
Even Pope Francis is getting into it – so if you’re a good Catholic (or just a fan of Pope Francis) – you should take notice. Yeah, I pulled out some Catholic guilt for you.
“September 7, 2014, will be celebrated for the first time, all around the world, the international Duchenne Awareness Day. I want to thank you and everyone who works… every day to fight this disease and assist children and boys affected by Duchenne, for your engagement.
That day I’ll pray for you during the Mass, praying God to bless you and give you the strength to continue this humanitarian fight.
Please, I ask you and everyone who fights with you to pray for me.
In a brotherly way,
But most of all – do it for all the boys and young men like Aidan, who are fighting every day to live life to the fullest.