Hello all, having been a frequent flyer on this website for a while because of my OH having Chronic myelomonocytic leukaemia ('CMML'), he is now newly diagnosed with the aforementioned condition, with the additional complication of Osteoporosis, my OH (the patient) is even more confused. I have to admit so am I! Other than anaemia leading to fatigue an dizziness, weight loss and lowering of his platelets he doesn’t seem to have any other symptoms (yet)
Because of the anaemia he will now need a blood transfusion and possibly more in the future?
This condition is rarer than hens teeth so I suspect that I’m not going to find anyone else with this, the only material on the internet is a few academic papers.
The hospital has proposed that he now needs a new drug called Avapritnib to control, reduce or eliminate the Mast cells but because of the rarity of this disease they really don’t know what will happen?
Talk about guinea pig!
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Hi @Hellodolly,
Gosh, what a lot you’re both dealing with! I’m so sorry. I took a look on our pages and couldn’t only see a very brief mention of mastocytosis, and what the NHS have to say about it.
Nurse Heidi also just sent me this link, which might be useful: https://ukmasto.org/about-mcd/mastocytosis/
In the meantime, do keep us updated. We’re always here on the forum, even if we can’t always point to specific medical advice in some situations like this. But we’re here to listen and sit in solidarity with you as you navigate it - I’m sure many of us have experienced facing the ‘unknown unknowns’ in parts of our diagnosis/treatments. My oncologist used to say I was his most a-typical patient!
How are you holding up, @Hellodolly?
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I’ve just been diagnosed with systemic mastocytosis with an associated haematological neoplasm (SM-AHN) and you’re right it is extremely rare! My haematologist has referred me to Guys for a second opinion as Dr Radia there is the national specialist. It’s an emotional rollercoaster/runaway train as things seem to just keep escalating but hopefully will get some clarity once I’ve been to guys. Stem cell transplant has been mentioned on more than one occasion.
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Hello MissChappo, I’m stunned that I have found someone with this condition. Shall we exchange stories?
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It sounds like your OH diagnosis was in a slightly different order - I discovered cutaneous mastocytosis first after skin biopsy and then had various blood tests that diagnosed systemic mastocytosis and then I had a bone marrow biopsy which confirmed the SM and revealed the haematological neoplasm. Has OH been referred to anyone? There is a UK systemic mastocytosis chat on Facebook you/he could join and UK Masto website might be useful.
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Hello Ceri, thank you for your message and the links, I’ve explored these and found them helpful. But must say that the symptoms don’t seem to connect well other than the fatigue. He’s got 2 EpiPens now had a Dexa scan, ct scan and has been booked in for a colonoscopy because mast cells can go anywhere. I must admit that the additional diagnosis of Osteoporosis is worrying on top of everything else.
My own health issues don’t seem to be getting any worse but I’ve got an appointment with the GP booked to try to get some help. Mentally I’m frightened that I’m not getting through to him about the bone marrow transplant, he’s pinning his hopes on the unknown.
Que Sera Sera.
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Hello MissChappo, it sounds like you started your journey with skin issues? I think the Chronic myelomonocytic leukaemia ('CMML') mutated into the aforementioned condition, he’s had no skin issues or any allergies, just the platelet count dropping over the last four or five months, some bouts of diarrhoea and he’s been getting more and more fatigued but the last two weeks he’s been feeling dizzy on and off which I think is due to anaemia. I’m hoping that the blood transfusion next week will help.
The haematologist said that she doesn’t want to refer him back to the transplant team because it will waste time if he’s not going ahead with it and I agree, I do agree that the whole process is very scary but I can’t make that decision for him, I’ve been trying to make him understand that there may be a time when it’s off the table, and that they don’t know if the Avapritnib will do anything, if that happens there’s nothing else.
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@Hellodolly Has he decided he won’t have a stem cell transplant? My doc said that’s the only cure but they do seem to be developing new treatments at the moment.
I’m also waiting for colonoscopy to check if gastro symptoms are just the SM and ensure nothing else nasty going on plus to see if there are mast cells in there.
Yep, because it’s systemic it means it can go anywhere, that’s why they’re doing his colonoscopy this week.
Hello, MissChappo, He hasn’t ruled it out, but he also hasn’t ruled it in. The last thing that I want is for them to take it off the table because of health issues that would make a bone marrow transplant more dangerous.
Unfortunately, even with the investment of every penny Mr Musk or Mr Bezos has, without enough people globally to participate in treatment trials. (Rare breed) it could potentially be a very long time before the aforementioned condition gets to the top of the list.