Sarah-Lyn Mumberson is a 30 year old lawyer from Carlisle who lives with the rare, inherited neurological condition Charcot-Marie-Tooth.
Although she wasn’t formally diagnosed until 2012, Sarah-Lyn actually displayed symptoms of the condition from when she was a toddler. Sarah-Lyn didn’t start walking until she was two to three years old and since then, her mobility difficulties have gradually worsened.
Sarah-Lyn currently struggles to balance, stumbles as she walks, cannot climb stairs without a bannister or stand still without something to lean on. A few years ago, in her early twenties, her balance was so bad that Sarah-Lyn was frequently mistaken for being drunk and refused entry into bars and clubs.
She said: “That’s all in the past now, as I rarely go out, but it was embarrassing at the time. On a night out with friends, we’d try and get into pubs or clubs, but the bouncers stopped me at the door assuming I was really drunk. Ironically, I’d only have had two drinks as I’m not a big drinker at all. When I explained I had a medical condition, some bouncers were apologetic and let me in but others didn’t believe me and I was forced to leave with my friends in tow.”
Sarah-Lyn’s CMT symptoms are now very severe; her feet have shrunk in size from size three to one and a half and she faces the prospect of surgery on them to reset and flatten the bones out to help her regain balance. In addition to this, Sarah-Lyn has never been able to wear high heels because she walks so far on the outside of her foot she is too unsteady and wears walking boots most of the time to assist with her balance.
She continues: “My symptoms may have worsened but at least I know what I’m dealing with now. We knew there was some kind of neuropathy problem in the family – my dad and his mum also struggled - but it was never formally identified. I didn’t start walking until quite late and since then I’ve always had problems with my balance and gait. It meant I was bullied and teased quite a bit at school because I would fall over all the time.
“As a child, my parents took me to the GP who then referred me to specialists, but the medical profession didn’t really know what they were looking at and nobody in Carlisle knew how to treat me. It wasn’t until I went to study at Northumbria University in Newcastle and deteriorated really quickly – my foot deformity had started presenting in excruciating pain in my knees – that I saw a GP about it again. It was then I was referred to specialists at the Centre for Life who did blood tests and formally diagnosed me with CMT. I was given orthotic insoles which, for the first few years, completely changed my life by tipping my foot straighter. The orthotic soles made me feel steadier than I’d been in years, but I’m getting worse again now.
“Being diagnosed with CMT was a relief because once I officially knew what I had, it enabled me to find out more about the condition and how to treat it, get support from the charity CMT UK and not feel so alone with the difficulties I faced.”
During this time, spurred on by Sarah-Lyn’s diagnosis, her father went to see specialists because his own symptoms were getting worse. His condition too was identified as CMT. Instead of having just one faulty gene, both Sarah-Lyn and her father have five, making theirs an even rarer form of CMT.
“Despite the challenges CMT has thrown at me, I have a wonderful life. I got married in September 2015. We decided early on not to have children because I could pass CMT onto them, although I appreciate other people take that risk and have children with CMT who lead happy and fulfilling lives. For me, the deciding factor was that because of the severity of my own symptoms I wouldn't be able to give a child the help my parents were able to give me.
“I also graduated with a first class law degree, qualified as a solicitor last year and now work as an in-house lawyer. That’s not bad going considering there have been days when I’ve struggled to leave the house due to the pain, complications and injuries caused by CMT.”
CMT UK offers assistance and support to people who have Charcot-Marie- Tooth Disease, also known as Hereditary Motor and Sensory Neuropathy or Peroneal Muscular Atrophy.
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