Blog

Through the Rare Project we introduce you to the people behind their rare conditions.

Sabrina and Carson

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He knows it is a muscle wasting condition...He has asked me the question as to whether or not the prognosis is terminal, so I’ve had to sit down and have that conversation with him...It is a very, very difficult conversation to be having with your child.

"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 carriers.  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.  Because there are so few manifesting carriers we do not know exactly how is will develop.  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.

Awareness is important because so few people realise it can even affect females and many carriers may not understand the importance of getting their hearts checked. 

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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 not go ahead with the pregnancy because it was such a miracle, just being pregnant anyway.  Knowing before he was born meant we were more observant for signs he was being affected but at the same time it meant we did not have to struggle to get a diagnosis.

Carson is quite severely affected.  He lost the ability to walk at the age of 8 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 really which is a worry because he’s still only 10.  It is hard to watch him struggling at such a young age.

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.

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.

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.

We recently had to have an incredibly difficult chat with Carson.  Because he’s so bright, he’s been asking questions for a little white 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 has asked me the question as to 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 has been a very, very difficult conversation to be having with your child."

What is Duchenne?

Duchenne muscular dystrophy (DMD) is the most common fatal genetic disease diagnosed in childhood. The disease almost always affect boys, and they tend to be diagnosed before the age of 5. Duchenne muscular dystrophy is classified as a rare disease. There are around 2,500 patients in the UK and an estimated 300,000 sufferers worldwide.

Children born with Duchenne muscular dystrophy have a fault, known as a mutation, on their dystrophin gene, the longest gene in the body. The fault means that they cannot produce dystrophin, a protein that is vital for muscle strength and function. This lack of dystrophin results in a progressive deterioration of muscle strength and function.

For more information or support please visit 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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