Myelodysplasia – A Journey of Discovery

Apologies in advance for what will probably seem like a self-obsessed post. I decided to write it for several reasons. To avoid having to keep explaining it to people and making them uncomfortable. To make potential and current climbing partners aware of my limitations and why. Maybe it will help raise people’s awareness of a fairly uncommon (but probably under-reported) disease. And finally, just to let off steam (of sorts).

Myelodysplasia (or Myelodysplastic Syndrom – MDS) [1] is a rare form of blood cancer in which the bone marrow fails to produce healthy blood cells for various reasons. It’s really an umbrella term that covers a range of different subtypes, each with different causes and prognoses. In around a third of cases it morphs at some point into something called Acute Myeloid Leukaemia (AML) [2]. Myelodysplasia is fairly serious. AML is extremely serious. Neither has a cure, although both have treatments.

The median age for being diagnosed is 75, with around 90% of cases being diagnosed after 70. Being in my late 50s, it’s clearly quite uncommon to be diagnosed with what is already a rare disease – so a double dose of rarity (so to speak). To add to this, my form of MDS is one that affects my red blood cells, which form too large, mis-shapped, and too few: called refractory anaemia with ring sideroblasts (RARS). This itself is a rare variant of MDS affecting roughly 5% of MDS sufferers. The good news is that this one of the “better” myelodysplasia types. The bad news is that I have a somatic genetic mutation: S34F of the U2AF1 gene which lowers the prognosis (I’ve seen it in technical papers as being associated with increased risk of progression to AML and with poor prognosis and poor overall survivability). So swings and roundabouts I guess! Around 30% of those with RARS have this mutation. I’ve put together these various incidence rates, and it seems that those with RARS MDS carrying the U2AF1/S34F being diagnosed before age of 60 affects less than 1 in 10,000,000 individuals. Not sure that makes me special or cursed 😉

Symptoms are myriad. Common ones include: fatigue, weakness, proneness to infections, bone pain. Less common symptoms are pretty varied – it seems that having an unhealthy blood supply over a period time is an excellent way to fuck up your body in a whole host of weird and wonderful ways. That all said, many people are asymptomatic in the early days – I have strong suspicion that I first started showing weak signs of developing the disease as long ago as 2010. Actually, just occured to me I had signs at around age 19.

Fun fact: two famous people who acquired myelodysplasia and died of resulting complications are Ronald Dahl [4] and Carl Sagan [5].

Summary of my personal symptoms, in rough order of inconvenience: peripheral neuropathy – sometimes extremely accute; tiredness and weakness (sometimes feels like I’m carrying wrist and ankle weights), severe insomnia (3-5 hours sleep per night normal), secondary Raynaud’s, bone pain (fairly infrequent, thankfully), prone to infections, nausia, brain fog (like many people, I suspected the latter to be made up – I was wrong!). Impairment of motor skills. Prone to bruising. Skin often feels like I’ve got ants crawling over it. I don’t usually get all these at once, I hasten to add. I do usually have one or more though.

Note for climbing buddies. The impacts on me as a climbing partner are as follows. I’ll probably only be able to climb in the morning to early afternoon. Fatigue and (sometimes extreme) tiredness tends to set in by mid-afternoon. The peripheral neuropathy means I can no longer risk repeated falls (probably shouldn’t be taking any), which is a bit of a bugger, as a follower of the “when in doubt, run it out” climbing philosophy. It also means I’m not really happy to hold repeated falls (I’m also a follower of Newton’s third law of motion). Bouldering is totally out. Trad climbing can only be single pitch. I can only handle a few routes per session, and multipitch are difficult due to the anaemia induced fatigue. My performance has fallen off a cliff (geddit!). I was just about still managing around French 7a end of last year (2022). But now in May 2023 I’m struggling on French 6a+ (ones I know really well too). I’m hoping I might improve during better periods, but who knows. Once I start to struggle on French 5s I’ll almost certainly give up. I might have to bail at short notice (symptoms can appear pretty quick) – so make sure I have contact details. All in all I suck as a climbing partner, so bear this in mind if you’re nuts enough to want to climb with me.

Anyway, that’ll do for now. Bit of a bummer, but lots of people have it worse and it’s worth giving a thought for children with leukaemia – apparently the most common childhood cancer. Not sure how those of an evangelical disposition reconcile that fact with the notion of a “caring” God, but there you go.






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