Charlie C
26 years old
I have Essential Thrombocythaemia (ET), which was officially diagnosed in December 2020, one month after I presented with symptoms. Being a doctor myself has made this a very strange and surreal experience; having medical knowledge has been mostly helpful, but it has also made things difficult at times. In November 2020 I noticed a cluster of purpura on my leg (purple dots under the skin surface due to tiny blood vessels bursting). I had never experienced anything like this before and I automatically presumed the worst. I do bruise very easily, which I now know is because of my ET, so I optimistically hoped it was just an odd-looking bruise that was healing rather strangely, even though deep down I knew something wasn’t right. A week after the initial cluster disappeared, four more small patches of purpura appeared over both legs. I realised these were definitely not ‘normal’ bruises and called my GP.
My GP arranged for some blood tests and discovered that my platelets were sky-high at over 1000.
The first time I saw a Haematologist they told me they highly suspected ET. Genetic testing revealed I have the CAL-R mutation (one of the two most common mutated genes in ET). This confirmed the diagnosis of ET and, given the rest of my cell counts were completely normal including a normal general examination, I didn’t need to have a bone marrow biopsy.
When I was first diagnosed I was shocked. ET is a rare condition and I had always thought of it as a condition of older people, not someone in their 20s! I was worried about what the diagnosis would mean for me and what implications it would have for my future. The usual questions of “Why me?” and “What have I done that might have caused this?” arose. Most of all – I’ll admit – I was afraid I was going to die.
I was really upset and emotional for a few months too. Accepting that you have a condition that you’re going to have your whole life, and which can potentially be very serious, isn’t easy. It has also been difficult not having anyone of a similar age who has ET to talk to – I know they’re out there but it’s so uncommon in younger people so it’s harder to track them down!
From a symptoms point of view I felt very much the same as I always had done. I didn’t feel ‘unwell’ per se. I have always had headaches and migraines, and early on after my diagnosis these headaches worsened and increased in frequency, but they’re always manageable with paracetamol. My bruises also became worse; I bruised after even gentle pressure and after bumping into corners of tables the bruising would be significant and take 2-3 weeks to fully disappear. Being clumsy by nature doesn’t help!
A few months in I started having visual changes; I see tiny flashes of light or twinkling black dots that come and go through the day. Visual changes are known to happen with ET but to be on the safe side I had an MRI scan, which didn’t reveal anything definitive.
So overall the symptoms I have continued to experience since the diagnosis are:
– Headaches & migraines
– Visual symptoms (twinkling lights/flashing lights/black dots)
– Fatigue
– Easy and significant skin bruising
– Tingling sensation on skin surface, always in a small area involving my arms, neck, head or face
Initially I didn’t have any treatment for ET, which was okay for a while, but then things changed. I’ll talk about the two main forms of treatment for ET:
1) Blood-thinners to reduce the risk of having blood clots:
People with ET have a raised platelet count, which means that they have more platelets in their body than ‘healthy’ people’. Platelets’ normal job is to participate in clotting so if you have lots of platelets in your body, there is a higher risk of having blood clots. This is why for many people with ET (and other MPNs) they are advised to take aspirin, which blocks platelets in the clotting process and therefore thins your blood, in essence.
However, research has shown that in ET, if your platelet count is above 1000 then you’re at risk of bleeding (as well as clotting). Your bone marrow is making so many platelets that often these platelets aren’t completely healthy and don’t function properly. If you’re platelets aren’t working properly then your blood can’t clot properly, so you’re at risk of bleeding.
For me, aspirin was originally prescribed by my GP when my platelets were first found to be high, whilst waiting for me to see the Haematologist. The Haematology team had a discussion about whether I should take aspirin or not, because of my platelet count being >1000 and the paradoxical risk of bleeding. They decided that the risks outweighed the benefits and that I shouldn’t take aspirin.
However, if my platelet count ever falls below 1000 then this decision might be reviewed and I may need to start taking aspirin.
2) Treatment to lower the platelet count:
This includes medication such as hydroxycarbamide and interferon etc. This was discussed with me early on but the team felt that it wasn’t definitely indicated in the beginning. Because of my age, lack of any other past medical history I was at a relatively low risk of having blood clots/bleeding episodes. We agreed to monitor my symptoms (particularly the headaches and bruising) and my platelet count, and see how I got on.
Over the next few months, although my headaches worsened and my bruises became more significant, I felt I could manage all of my symptoms just fine. However, a conversation with a wonderful haematology consultant made me see things differently.
She wasn’t part of my usual haematology team but was a clotting/bleeding specialist and her opinion had been sought in my case. My platelets were still around 1200 and she made me realise that without any treatment it was just like waiting for something bad to happen. Waiting for me to have a dangerous bleed, or have a blood clot. It made more sense to start treatment earlier and get my platelet count under control, after which the headaches and bruising should settle, and then my risk of complications would be lower.
Because of my age the recommended treatment is Interferon, which requires a weekly injection. I wasn’t particularly looking forward to this and naturally anticipated the worst side effects, but I was keen to give it a go and proceeded with treatment with a positive mind-set.
The first couple of doses caused me to feel mildly lethargic during the first couple of days after the injection. I would then have mild nausea for the rest of the week, which was completely manageable with ginger tea. As expected, after around six doses of Interferon all the side effects pretty much disappeared and I felt back to my usual self. Any time the dose is increased I go through a period of having mild side effects again, which resolve once my body becomes accustomed to the new dose, after a few weeks or so.
Coming to terms with a diagnosis of any kind can be really tough and I would advise anyone with an MPN to be kind to yourself and listen to your body. If you’re feeling tired, try some gentle exercise (even if you really don’t feel like it!), or if you’re absolutely shattered, take yourself off to bed and don’t stress about it. If you’re having an emotional day then take it easy and know that come the following day you’ll likely feel better. It helps having supportive people around you; I’ve been largely open about my diagnosis, (especially with close colleagues at work who need to know due to staffing etc), and I think this helps in that you feel more able to voice how you’re feeling if you’re having a particularly bad day, or if something is worrying you.
You’re not alone; although MPNs are rare in the grand scheme of things, whatever MPN you’re dealing with, you’re not on your own. There’s a whole community of people who can support you. We’re all in this together.
