SABRINA & CARSON
“
Carson is very cheeky, very cute, very mature for his age. He knows a lot more than he should. He’s just an absolute joy. I wouldn’t swap him for anything
”.
We met with Sabrina and her son Carson to talk to them about their families experience of Duchenne Muscular Dystrophy (DMD).
"I’m what they call a manifesting carrier of Duchenne Muscular Dystrophy which has caused heart problems in my case so I’ve got severe cardiomyopathy and heart failure. I was diagnosed with the cardiomyopathy at 21 but we didn’t realise at the time it was related to being a carrier. It took another two years for us to figure that out and work out what the cause was.
I knew that I was a carrier of Duchenne but I was told that as a carrier it wouldn’t affect me and not to worry about it unless I wanted to have children in the future”.
“It’s extremely rare to be a manifesting carrier. ”
“In addition to the heart problems I have slight weakness in my hips, leg and arms. My condition is progressive but not as quickly as with the boys who have Duchenne; we do not know exactly how it will develop - it’s extremely rare to be a manifesting carrier. It’s all a bit of a learning journey for everybody involved - the doctors as well as myself.
As an ultra rare case it can be very difficult when dealing with doctors as some refuse to accept it can even affect females. Things are starting to get better as there’s a lot more research going on now”.
“There’s so much research going on now, looking for treatments and possibly a cure, that we need to keep that awareness out there so people can keep raising money and working towards hopefully one day finding a cure or a treatment for it.Awareness is equally important because so few people realise it DMD can even affect females and many carriers may not understand the importance of getting their hearts checked”.
“My son Carson has Duchenne. I had not thought I could ever have children and so when I got pregnant he was tested and we found out he had it. It was never an option to abort the pregnancy because it was such a miracle to be pregnant. Knowing before he was born meant we were more observant for signs he was being affected but at the same time it meant we didn’t struggle to get a diagnosis.
Carson is quite severely affected. He lost the ability to walk at the age of eight and he’s now completely wheelchair dependent. Recently his arms have started to grow weaker as well which means he can’t lift his arms above his head and that’s a struggle. It seems to be progressing quite quickly which is a worry because he’s still only ten. It is hard to watch him struggling at such a young age”.
“I’ve had to explain about life expectancy and about how the condition progresses. It’s a very, very difficult conversation to have with your child.”
“He’s never really had any problems with the way people treat him. He’s got a really good school and people just treat him like Carson. That’s all we’ve always wanted and I’m glad that things are that way. He’s just an absolute joy. He’s very cheeky, very cute, very mature for his age. I wouldn’t swap him for anything.
We did recently have an incredibly difficult chat with Carson. As he’s so bright, he’s been asking questions for a little while about the condition and about the future. He knows it’s a muscle condition and he’s been asking about his breathing muscles and different things. He asked me whether or not the prognosis is terminal, so I’ve had to sit down and have that conversation with him. I’ve had to explain about life expectancy and about how the condition progresses. It is a very, very difficult conversation to have with your child”.
FIND OUT MORE
DUCHENNE MUSCULAR DYSTROPHY
Duchenne Muscular Dystrophy (DMD) is a genetic disease that causes muscle weakness and wasting. Children born with DMD have a fault, known as a mutation, on their dystrophin gene. Genes are smaller sections of your bodies DNA - they are the instructions that make our bodies work. For people with DMD, the fault on the gene means that they cannot produce dystrophin, which is a protein that protects muscles. Without dystrophin, muscles get damaged more easily and so muscle strength and function is weakened.
DMD almost always affect boys, and they tend to be diagnosed before the age of 5. There are around 2,500 patients in the UK and an estimated 300,000 worldwide.
To find out more about DMD, click here.
Source: https://www.duchenneuk.org/Pages/FAQs/Category/what-is-duchenne
DUCHENNE UK
Duchenne UK describe themselves as a ‘lean, ambitious and highly focused charity with a clear vision: to fund and accelerate treatments and a cure for Duchenne Muscular Dystrophy (DMD), and to do so in a decade’. As well as fundraising, Duchenne UK also have thorough and up-to-date resources for families with DMD including support and advice for those who have been newly diagnosed.
To learn more about Duchenne UK, click here.
Source: https://www.duchenneuk.org
If you wish to discuss this project or reproduce any images or story, please contact ceri@samebutdifferentcic.org.uk. The photographer on this project is Ceridwen Hughes (www.ceridwenhughes.com)
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