13. (Un)lucky for Some
First off, no news on #OperationChop #OpChop so far. I have a multi-specialist appointment on Mar 3 with vascular surgeon and Plastics and then will know more. There are concerns that, mid-surgery, we discover there is not enough flesh on my lower leg to comfortably cover the bone stump, so surgeon wants a backup option ready to go which would take the necessary additional flesh from my thigh and graft onto the amputation site. This appointment is to discuss that plan and hopefully get it confirmed. Then we might have an op date pencilled. Onwards.
Next thing, I’ve gone viral again on Instagram. 14 million views and growing. And, like last time, it’s largely due to the macabre fascination of viewers (for what is an incredibly dull short video), and their shock indignation (the algorithm runs off outrage, remember) at having their disrespectful questioning/insults met with similar replies. And I’m good at shit talk. It’s quite fascinating to watch.
One of the most interesting things is how many commenters insist this video is AI, or that I’m a robot, or that the pedals are somehow powering my legs, or there’s magnets, or there’s no resistance. It’s about 140w (shade over 2w/kg) and 80rpm. Not exactly ‘on the rivet’ but also not freewheeling. So, points for the smooth pedalling, Tom. Although in 60,000 comments I think I’ve seen only 2 which noted the sacré coup de pedale and decent bikefit (Hat Tip to longtime friends Phil Burt and Cyclefit UK)
Anyway, I bring this up because even those viewers who do have the intelligence and genuine curiosity to look at my bio or Google for details of ‘my condition’ often still have questions. You probably still have questions, but are far too polite to ask. And so when I was recently asked to describe the impacts of my condition as part of a funding application it seemed a good opportunity to share an up-to-date ‘state of the union’ here. So, here we go…
I am one of around 20 people worldwide with MDP syndrome, which is a genetic multi-systems disorder characterised by unusual fat metabolism. As fat is intrinsic to so many biological processes, this has the effect of causing:
- No subcutaneous fat, so no fat under the skin. This gives me a Visible Difference but also means I have no fat on the soles of my feet, making walking/shoes/insoles very difficult and, over time, painful and biomechanically unworkable (hence the increasing wheelchair use).
- The lack of subcutaneous fat, and fat use in tissue, means I have extensive ligament and tendon contractures throughout my body, affecting ROM of my joints. It has also constricted my feet to the level that bones have warped, fused together, and become a significant infection risk (hence the forthcoming double amputations).
- This tightening has also caused the tendons across the top of my R hand to slip off the knuckles. This additional friction, alongside the corresponding tightening of muscles in the palm, has meant my R hand is effectively partially paralysed with very limited control, strength and ROM. I can make a fist but struggle to open it.
- Abnormal fat metabolism has also led to growth issues- I have very small hands, feet and jaw, and short arms for my height (6ft 3). The small jaw resulted in excessive teeth crowding and extensive orthodontic work – helped along by a bike crash through a car window which smashed my front teeth. I currently have a bridge, fake front teeth.
- Because I do not store fat in the normal way, a large amount of dietary fat remains in my blood. This has tricked my body into thinking I’m morbidly obese, which is why I’m heavily insulin resistant and have Type 2 Diabetes. This is also why I’m predisposed to other dietary concerns such as non-alcoholic fatty liver disease (NAFLD), high cholesterol, etc and must monitor my diet. This is quite tricky as the lipodystrophy encourages low fat, and the diabetes encourages low carbs!
- While the specific mechanism is not known, male sufferers of MDP have very low testosterone and require chemical assistance through puberty. While it has not been confirmed with a test, it is unlikely I will be able to have children.
- The combination of small extremities, reduced ROM, inflexibility, low testosterone and muscle mass, and also poor fuelling means there are significant barriers to exercise. Reduced exercise has also led to plummeting bone density in recent years, with increased infection/crumbling/breaking risks and heavier reliance on the wheelchair for exercise.
- Again, while the specific mechanism is not known, those with MDP have sensorineural hearing loss- possibly due to the role fat plays in the messaging between ear and brain. In my case the symptoms are particularly severe: my L ear is totally deaf for many frequencies, and profoundly deaf for the few remaining ones – a hearing aid assists me on that side. My R ear was not so fortunate and now has a Cochlear Implant.
- Unrelated to MDP, I have another genetic disorder (such fun!) called Keratoconus which changes the shape of my cornea. A surgery, corneal cross-linking, has limited this deterioration but also fixed my cornea size – meaning hyper-sensitivity to light and poor vision, with pronounced astigmatism. Without a hat/sunglasses in bright light, I am effectively blind. While glasses help, I do not feel comfortable driving/cycling without my contact lenses and sunglasses, due to clarity and the risk of sudden light changes. However, because of the tight skin from MDP, and protruding eyeballs from Keratoconus, contact lens and eye discomfort is a danger – I cannot wear my contact lenses currently due to recovery from recent keratitis and blepharitis infections.
Yeah, I realise it sounds a bit grim when it’s listed like that. Not happy reading material for a mid-morning coffee, but that’s reality. Here’s some healthy perspective:
I can eat and drink on my own
I can get dressed on my own (some say with reasonable style)
I can wash myself on my own
I can breathe unaided
I can drive
I can walk very short distances, slightly longer ones with crutches, and propel myself in a manual wheelchair across varied terrain without too much issue
I can pedal a bike. I can lift weights.
I can express myself - through speech, gesticulation, and writing.
I can read (easier with digital materials for the zoom/backlight)
I can hear (some issues with complex music and background noise situations)
I can smell and taste (slight reduction due to CI surgery, but manageable)
I can touch (some sensitivity losses, feet and R hand, otherwise fine)
Viewed from this perspective, there is very little I can’t do. I am comparatively massively more able than many people who are afflicted by more serious conditions. So am I unlucky? Or actually very very lucky indeed?
And isn’t that a nice optimistic note to end this blog on?
Thanks for reading. Will update post-3rd March appointment.
T