I am launching a new regular posting series called “The Paratriathlete Diaries” – in the series I hope to take a regular look at the random things that happen in my life as an athlete with challenges. I hope to make this a weekly feature, but as with everything, it all depends on what life throws my way – especially as I want to keep this light and fun. Any ideas, questions, or suggestion throw them my way. I would also like to use this feature as a way to answer questions anyone might have about living with chronic conditions such as Charcot Marie Tooth disease, or Ehlers Danlos Syndrome. I’m all ears!
On Monday I had my “annual” visit with my neurologist. I say “annual” because in reality, I’m at the neuro clinic a lot more than once a year because I volunteer as a research guinea pig for the work being done on Charcot Marie Tooth disease. I also recently was a part of Team Brain Appeal with my “new” doctor, Matilde Laura, at the BUPA 10k.
Dr Laura is just on my left in this photo – I may be CMT challenged, but she is vertically challenged!
But those “visits” don’t “count” – to stay active in the system here in the UK and to be able to get referrals for problems as and when they arise, you need an “annual” check up. I had fallen out of the system when I needed to reschedule my appointments, so took the opportunity of a new appointment to switch doctors. I moved away from the muscle clinic (under whose care I had been since 2004 – thank you Matthew Parton for all that you did for me over the years) and to the genetic neuropathy clinic (who unofficially saw my files anyway as the various clinics are closely coordinated at the Instiute for Neurology).
This was my first time “officially” seeing Dr Laura, so we started the visit with the full and usual list of questions. You know, things like “When were you diagnosed?” (2004) and “Did you have problems as a child?” (yes, I was a super slow runner and tripped a lot) The usual… My reflexes were tested (no ankle or wrist responses, no surprise there!), and Dr Laura also busted out her trusty pin to test for sensory damage. A small pin, and lots of little pokes… “Can you feel this? Tell me when the pin starts to feel the same as it did when I poked your collar bone.” Again, no real surprises there, the pin on my toes felt like someone was poking me through socks, and I was barefoot…
Of all the various things discussed Monday morning, this exchange may have been may favourite bit of the appointment:
Dr Laura: Hold out your hands.
Me: *holds hands out*
Dr Laura: *looks at hands* You know you have a tremor?
Me: Yes, I always have. It’s why my mother told me I couldn’t be a surgeon when I grew up.
Dr Laura: What’s this? *take my hand and points at a giant blister on my left index finger*
Me: That’s a blister. I got it while barbecueing.
Dr Laura: Did you feel it?
Me: Of course! But it was worth it. The pork chops were perfectly cooked. And tasty.
Here I was, proud of my asbestos hands and ability to tolerate heat! But in the eyes of a neurologist, for someone with CMT the BBQ can be a high risk activity!
On a serious note: this snippet is an important reminder that CMT can impact every small thing us CMTers do in our life. Not everyone with CMT can feel things like heat blisters, as nerve damage can impact our sensory ability. BBQ with caution!