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Jen Envine: 'Finally receiving my CMT diagnosis was such a relief'

Jen Envine was diagnosed with Charcot-Marie-Tooth disease in May 2019, when she was 36. It took more than 20 years to diagnose the mum of one, who was initially told she had ME and Functional Neurological Disorder (FND). Jen, who lives in Solihull, tells us about the relief she felt when she was diagnosed, how her five-year-old son, Noah, responded, and the support she has received from Muscular Dystrophy UK…

“From the get-go, Muscular Dystrophy UK was there for me. If I ever have any questions, I just send an email and I get a response to help me out or point me in the right direction. The advocacy service has been brilliant. The team helped me with a train and tram pass so I could commute to work, and got me a Blue Badge so I can park at the station. I also received funding from the Joseph Patrick Trust to put towards a wheelchair. And I have an alert card and use the website regularly for information.

“I was diagnosed with CMT last May. I’ve known since I was 15 that something wasn’t quite right, but it has taken 20 years to get a diagnosis. Finally receiving that diagnosis was such a relief. Without it, I would have just carried on with no help, and no tailored information or support. The diagnosis doesn’t change the outcome in many ways because there is no treatment for CMT, but at least now I’m getting the care I need. I’m just getting on with things now.

I couldn’t have got through this without my son, Noah, who’s five.

“I had major knee surgery just before lockdown, and I was in bed for seven weeks. He helped me at home by fetching and carrying things, and helping me down the stairs and to the bathroom. He’s so kind and patient, and he knows mummy’s legs are poorly.

“When Noah first saw me in a wheelchair, it didn’t faze him at all. He has accepted every single thing that comes with my diagnosis. He knows mummy can’t run around with him now, but that’s OK. We’re finding ways to do things differently. He has adapted so well. I hope he grows up knowing that it doesn’t matter if people can’t do certain things.

“I’m so proud of Noah. He has even been visited by our local firefighters in Solihull, because they were so impressed with how helpful he has been. They got in touch with us after Noah sent in a coloured-in picture of a fire engine for a competition they were running. Although he didn’t win, his drawing of a rainbow fire engine will be appearing in the station’s Fire Safety Campaign. Noah will also be visiting the station once lockdown has ended. It’s everything he deserves.”

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