Now, you already know that our organisation is dedicated to improving the quality of life of Duchenne sufferers from the poorest communities. But what exactly is Duchenne?
The Science of Duchenne
Duchenne is a disease which afflicts every 1 in 3500 boys and about 1 in a million girls. It results in the progressive loss of muscle. It is a genetic disorder and is therefore something which you are born with. Without getting too technical, Duchenne is caused by a problem with the dystrophin gene. Without dystrophin muscles cannot function or repair themselves properly.
The reason the chances are higher for boys than for girls to have Duchenne is that the dystrophin gene is found on the X-chromosome. Boys only have one X-chromosome while girls have two, which means that if the defect occurs on one of the two X-chromosomes, the other X-chromosome might have a properly functioning dystrophin gene. Boys don't have this additional X-chromosome.
The Practical side of Duchenne
So this is the technical part, but how exactly does Duchenne manifest itself? What does 'progressive loss of muscle' look like? TRIGGER WARNING - this video is quite representative of how Duchenne affects its sufferers over the years, but you can find a short description below. Please do note that the ages mentioned are indications and by no means hard and fast data.
Congratulations! You just had a baby boy! Everything he does is magic - his first smile, his first sound, his first adorable sneeze, the first time he squeezes your finger. You not only enjoy him right here, right now, but you're already imagining all the fun things you will do together as well as his life on his own.
He is around 2-3 years old now and although he isn't as physically adept as his peers, he is doing ok. Right? He is trying to get up and although he doesn't do it like other kids, the important thing is that he gets on his feet. I mean he didn't crawl like other kids his age either, so what's the problem? He used to move forward in a sitting postion by moving his butt forward. But the doctor thinks it's a good idea to go for a thorough checkup at the hospital anyway, just to rule out some things. And so you make the appointment, expecting nothing out of the ordinary, except maybe some pointers on exercises you can do with your sweet boy to encourage his physical development.
But the call you get from the hospital after the series of tests is far more serious than you could ever have expected. Your son has Duchenne Muscular Dystrophy. The prognosis: eventual loss of muscle in the entire body accompanied by breathing difficulties, complete reliance on others for pretty much everything and a life expectancy of 30 years old. Your entire world is shattered. Never in your worst nightmares had you expected this. This is what most parents and brothers and sisters of kids with Duchenne hear when they find out their beloved son or brother suffers from it. But how do you go from not being able to walk or crawl like your peers to this prognosis.
6-8 years
Despite the shock and grief you experienced when you heard about the diagnosis and which you carry with you everyday, you and your boy are happy, as healthy as can be and enoying life as much as possible. He has been on the usual Duchenne medication used to manage the symptoms (Prednison or Deflazacourt).
You do notice however that he walks on his toes more and more and that his calf muscles are getting bigger. You also notice that his spine is curving inwards. You also notice that it is getting increasingly difficult to get up off the floor for him and that he gets tired walking relatively short distances. As painful as it is, this is usually when your little boy will need a manual wheelchair. But guess what, usually this is harder on the parents than the child. In my experience, the wheelchair is usually seen as an enhancement and as something fun and sometimes even a weapon (!) by your son.
10-12 years
Your son is a pro in his wheelchair and can easily outrace any other kids. You are so comfortable with the wheelchair that you hardly remember a time when your tyke didn't have the wheelchair. But you have noticed that your boy's arms are starting to get weaker and that it is harder and harder for him to push the wheels of his manual wheelchair. This means it might be time to get an electric wheelchair. And again, just as when your darling boy needed to get a manual wheelchair, it will be painful to admit that he now needs an electric wheelchair because he is simply getting too weak for his manual wheelchair, because this means that the eventual prognosis is insidiously creeping closer. But guess what, your son feels empowered, stronger, faster and less tired because of his new electric wheelchair. His younger siblings might even stand on the back wheels to avoid walking. And winning races with an electric wheelchair? Even more fun than with a manual one.
14 years onward
This is where it gets a bit tricky because depending on your boy's Duchenne and how it develops, he might be stable for years or he might deteriorate quite rapidly. Arm strength and hand strength usually decrease which leads to needing arm support tools which can be attached to the electric wheelchair. Hospital checkups may need to be a little more frequent than before and it is likely that he will need additional medication such as heart medication as the heart is also a muscle and therefore is affected at some point. In addition, due to weaking diaphragm and chest muscles, breathing assistance may be required, such as a C-Pap.
As heartbreaking and difficult all these developments are, luckily there have been and continue to be lifechanging developments to aide in improving the quality of life for Duchenne boys.
Our organization's goal is to provide these aides to the poorest Duchenne sufferers, because these kids live in countries where all the aides mentioned above, such as medication, wheelchairs, even diagnoses, are extremely costly. Life with Duchenne in a country which provides healthcare and aides is difficult enough as it is. We can't begin to imagine what life is like for children where they do not have access to these basic amenities.