ET JAK2+ - Could this be progressing and how do I obtain more information/support?

[Semhuk]

I've have had several consultants (it seems that heamatology has been a revolving door one in one out for years at my hospital) since my diagnosis and I feel like I am getting nowhere.

My background is that I was diagnosed ET Jak2+ 10 years ago, after a lengthy battle with Drs over symptoms - they kept telling me they thought my symptoms were mental health related as opposed to my mental health being affected my symptoms.

During Covid I dropped off the list as my Heamatology Consultant and the Heamatology Secretary left and it took me till November 2024 to be seen again. At that point the new Consultant admitted that they were severely short of resources/staff so moved me from 6 month watch and wait to 12 month watch and wait, under the provision that if I had concerns I could come back.

At the time it was noted that my platelets had returned to "normal levels" for a person without ET and the consultant commented how they had never said that to someone with ET, especially one that was only on aspirin treatment. I was informed that the symptoms I experienced (puritus, fullness in stomach, visual/ocular migraines, peripheral neuropathy, and fatigue) would probably never go away if I was experiencing them with my platelet levels stable. At the time I even queried whether I had been misdiagnosed 10 years ago given that my platelet levels have returned to a normal level after all this time and I was told that my JAK2+ result was indicative of an MPN so I definitely had it.

A month after that consultant appointment my itching got worse, I had terrible stomach pains and my GP referred me for an abdominal ultrasound. It turns out my liver enzymes have been raised, I have folate deficiency and my spleen is now enlarged.

It is now 4 months later and I am having "repeat" bloods on a 4 weekly basis at the GP, no one seems to be linking it all together and when I queried with this the Heamatology Secretart I was informed that there is a new Heamatology Consultant who has read the results my GP sent and he is not willing to bring my appointment for November forward to see my earlier.

I am really struggling to be taken seriously by my GP and this new Heamatology Consultant. I cannot help but think that the enlarged spleen and liver enzyme increase must be related to my platelet decrease. The itchiness is beyond a joke (I am taking 4 times the instruction level of prescription only antihistamines just to function and not rip my skin off) and the tiredness is crazy.

I am aware that I was diagnosed prior to the WHO change on the diagnostic criteria which would require a bone marrow biopsy for ET diagnosis. I don't want a biopsy but I know if I had one it could rule out progression to post-ET MF which is my concern that all the symptoms are pointing at. Unfortunately, no one is listening to me.

I am not really sure what to do now and I really just wanted someone who understands to tell me that I am not going crazy. I would also be really grateful if anyone here could give me some advice as to what to do or where to go next.

[rebeccaxxx]

Are you in the UK? would it be possible for you to be referred to the london or manchester hospitals? you need to see an mpn specialist who will actually provide some care, you deserve some answers. I know there is a list of specialists on this site somewhere so you could look for that. I have had a very positive experience at Manchester Royal Infirmary and I know many people have had a great experience with prof harrison at guys in london, I bet she would work with your GP to get a suitable plan for you.

[rebeccaxxx in reply to rebeccaxxx]

here is the list but I see now you are in the UK, I think you could contact Guys yourself, hopefully someone with direct experience can help, or you could search previous posts. A lot of haematologists do not understand MPNs and do not provide good care, I would definitely suggest you switch.

healthunlocked.com/redirect...

[Semhuk in reply to rebeccaxxx]

Thank you so much for your reply. I have clicked the link and there is a chap in Glasgow listed. I may try and reach out to him direct.

I really appreciate the reply!

[ainslie in reply to Semhuk]

I understand your frustration and emphasise re the itching, I see the doc in Glasgow you refer to and he is good.

[rebeccaxxx]

Good luck! I bet your GP could refer you if needed. My first consultant was awful and I told him I had had enough and I wanted him to refer me to Manchester and he did it straight away. So if they do need a dr referral it's just more admin but they can't stop you.

[Old_Coger]

I agree with the other comments, get yourself referred to an MPN specialist, I have only just been diagnosed, but was not overly confident in the haematologist, so I was looking how to find a specialist and found this website : medifind.com/

From there I found MPN specialist at Guy's and have insisted on my GP referring me there I have my first appointment next month.

Find the specialist you want to see an insist on a referral is the best advice.

Good luck.

[Semhuk in reply to Old_Coger]

Thank you for coming back to me.

It is good to feel like I am not going crazy.

[hunter5582]

You need to consult with a MPN Specialist, not a regular hematologist. MPNs are rare diseases and most doctors, including hematologists, have little experience with them. Here is a list of MPN expert doctors. mpnforum.com/tsr-the-list/ As others have suggested, the MPN care team at Guys is one of the best.

The pruritis and other symptoms you report are common issues with MPNs. They can be successfully treated with proper care. You would be correct to think that a BMB is likely indicated at this point. This is something to discuss with a MPN Specialist. The splenomegaly and elevation in LFTs also needs to be addressed.

Suggest that you insist on a referral to a MPN Specialist ASAP. There is no reason to continue to tolerate inadequate care.

WIshng you all the best.

[Rem31]

You mentioned contacting a MPN specialist in Glasgow which makes me think you are covered by NHS Scotland. Asking for a referral to MPN specialist under NHS England may not be straightforward due to separate funding arrangements but maybe others here have experience of cross border referrals and can advise.

You certainly need to see a Mpn specialist for peace of mind at least and the Glasgow specialist has been mentioned positively in previous posts on this forum.

[Semhuk in reply to Rem31]

I am based in Scotland although it appears that it isn't that easy to get referred here either.

I am just going to keep pushing forward.

I really appreciate the replies.

[Rem31 in reply to Semhuk]

The stress of it all is exhausting but keep pushing. We are all behind on this!

[Semhuk]

Just as an update. I have reached out to a private practice where that consultant works and apparently they do not offer bone marrow biopsies so I would need to look at an alternative place, and there are no others nearby where I live so I am not sure where to go now.

Thanks everyone for understanding, listening/reading and replying. It means a lot!

[gilded]

Hello Semhuk. So sorry to hear about your issues. Not sure where in UK you live but some areas have much less MPN specialist cover than others. Could you get a referral to ProfessorHarrison’s clinic at Guy’s/ St Thomas? She is well respected as many on this forum testify. When, a couple of years ago, my GP was useless, I paid to see a private GP whose diagnosis was spot on and she referred me to consult a haematologist privately. It was well worth it. Lots of time given for questions and answers. I never regretted it . I saw the haematologist twice and then went back on the NHS with a fount of knowledge about my condition. I look at it this way: for much less expenditure than a holiday, I had certainty about my condition and the road ahead. This approach may not be acceptable for everyone but if I hadn’t taken this road, I would still be floundering with my inept NHS GP.

[Raineless]

I am going through the same thing, all the same symptoms so itchy it drives me mad! Vestibular migraines vertigo portal vein thrombosis enlarged spleen blood clots in my spleen. My liver enzymes are high because of the clots in my portal vein which the doctors don't seem concerned with getting rid of the clot just stopping it from getting worse. Also my platelets are in the 400 range which is the lowest they've been in 10 years they've always been 700 to 1200 but when I went into the hospital with upper abdominal pain I found out about the clots it was at 400 I feel like my disease is progressing my symptoms are stronger I'm very tired all the time but my new hematologist oncologist doesn't see a need to get a new bone marrow biopsy done. Personally I would like to know how my diseases progressing since it's been over 10 years since I had my last bone marrow biopsy I've had two and I was questionable pre-fibrotic myofibrosis 10 years ago so how do I get my doctor to listen to me when I know my body and I know when it feels different and I would like to confirm it