Charlie - MECP2 Duplication Syndrome

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Charlie recently visited us in the studio with his mother, Fiona, to tell us about his rare condition. He is a happy little boy who loves Peppa Pig and cuddling his blanket, and on the day of our photo session he was celebrating his second birthday. Whilst he was more than happy to take part and enjoyed being photographed, he was also recovering from his latest admission to hospital.

Charlie was diagnosed with MECP2 Duplication Syndrome when he was 15 months old. This is a duplication of the MECP2 protein/gene and it’s located on the XY chromosome. What it means for Charlie is that people affected by this condition usually have global developmental delay, are non-verbal and can be prone to seizures later in life due to the build-up of protein. Many with the condition suffer from recurrent respiratory infections which has already been apparent in the last year.

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“It is hard to say exactly how the condition will affect Charlie because there can be huge variances between the way it affects each individual. We believe that Charlie has quite a small duplication but that does not necessarily mean his symptoms will be less. He is already experiencing some gross developmental delay as he is very much behind his peers; he only started crawling two months ago. We believe he has autistic traits, which was the reason we initially took him to the doctors. Something just didn’t feel right in the way he is very happy in his own little bubble and just very content. Everybody used to say what a good little boy he was. For me that was alarm bells because he just wasn’t interested in doing all the stuff that ‘normal’ children do.

Charlie was under the paediatrician because of a thyroid issue. I mentioned our concerns and his consultant said that as he has several indicators such as, excess skin on his forehead and a few other facial markers that can indicate an issue, they carried out more thorough tests. He had some muscle enzyme tests, hearing tests and eye tests to rule everything out, and then the last resort, we didn’t even think anything of it, a genetic blood test which was taken in December last year. We got the results in early January.

When we were given his diagnosis, they could tell us very little. We were handed a rare disease leaflet and told to go home and love our son and that was it. Obviously, there were a few things that were organised for us in terms of tests like an ECG, to rule out any heart issues, and the investigations on his bowel because this can be an issue for those with this condition but otherwise we were just left to get on with it.

We are in a position at the moment where we have to wait and see if he develops seizures. Because it’s a duplication of a protein it can build up in the brain, and seizures can start from when they’re 3 to 5 years. It’s not 100% that Charlie will definitely get them, so the uncertainty certainly adds to our stress.

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In itself, MECP2 isn’t life threatening but the recurrent respiratory infections can have severe implications, with many boys dying of pneumonia, sepsis and other respiratory related infections.

Because the duplication is on the X chromosome, the impact on boys can be extremely severe, whereas if girls have the faulty gene, they can be carriers but not have the devastating affects that boys like Charlie suffer. Many girls are not aware that they are carriers until they have a boy with the condition.

Having someone to support you emotionally and knowing that they understand the affect of a rare disease is really important. It is not something you realise until it happens. You feel really alone after diagnosis, nobody really understands what you’re going through. I really cut myself off from going out on playdates because it just brings home how behind Charlie is and the things he won’t be doing. Having someone there who knows exactly what you’re going through, and you can talk to, is invaluable. Sometimes just being able to have a good cry together really helps, it’s a big release.

Charlie’s had 4 hospital emissions this year and for 3 of them we’ve been in the same hospital, in the same ward and yet each time the team will go through the notes and you have to just repeat everything. It really feels like what we are saying is just falling on deaf ears and so now we have started being much stronger about the care he is receiving.

One of our biggest worries is with regard to his education. I’ve put it to the back of my mind at the moment. We just don’t know how he’s going to be when he starts school. There are so many uncertainties about the level of support he will need. It’s massive, that’s probably the thing that chokes me up the most at the minute, just thinking about what the future holds for him. I find the fact he will be non-verbal to be the scariest aspect of his development. I don’t ever want him to feel that he’s upset but can’t express himself.

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Awareness is really important so that people understand what you’re going through, what your child’s going through. They’re all given these silly names that no one can remember or pronounce but ultimately, I just want people to know how these conditions affect our children and their families.

All I want is for people to see Charlie as the little boy he is and hopefully treat him the same as every other child. We are doing this to raise awareness. Nobody wants to be doing this sort of thing with their children, you know, we could be out somewhere now for his birthday, at a big soft play centre running around, but it’s important that people like you are out there, fighting our corner just to get people to think a little bit more about rare diseases.”

You can contact a support organisation for this condition at https://www.reverserett.org.uk/what-we-do/rett-syndrome/mecp2-duplication-syndrome/

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)