Looking for some advice

[Megabyte]

I’ve been lurking for the last 6 months and waiting til I had a full diagnosis before I posted, but - 10 months on, I am still trying to get a confirmed diagnosis. The blood tests all have come back negative for gene mutation, BMB is negative, spleen is “normal” after an ultra sound but my platelets are still up around 580. The last doctor who called me from the haematology dept said they “don’t know what is causing the problem” and they are just going to leave me for six months to see if anything develops - I “could have a gene mutation they don’t know about yet and therefore can’t test for”. I raised objection to this but he insisted that was what he was going to do as my platelet count isn’t THAT high - he has MPN patients with counts over 1000 (this was the first time I had spoken to him - he’s the third doctor I’ve spoken to in three phone calls so I feel there’s been no continuity of care) so, after some research, I’ve found out that there’s an MPN specialist who has a private clinic in Edinburgh and I wonder how I go about requesting a referral for a second opinion and if I can get all my tests etc made available to him. I’m in the west of Scotland.

[cmc_ufl]

A part of routine MPN diagnostics is recognizing the nature of "triple-negatives" who do not have a mutation in JAK2, CALR, or MPL. These individuals are a heterogeneous group where there disease is caused by any number of other mutations, which are not routinely tested for (but can be with special panels). A persistent platelet count above 450 can still be diagnosed as ET without a detectable mutation. There are many people on this forum who are triple-negative. I myself have been in the diagnosis process as a potential triple-negative ET since January of this year (see my profile).

You may benefit from seeking out a MPN specialist to continue your diagnostic workup. Most regular hematologists are not familiar enough with MPNs (since they are so rare) to provide state-of-the-art care.

[Megabyte in reply to cmc_ufl]

Thanks for getting back to me - I think I would feel more comfortable with feedback coming from an MPN specialist, even if it was just a “watch and wait”. Meanwhile I’m taking 75mg of aspirin, so at least I’m not worrying about clots. I am just not sure how to go about getting my records together and getting the referral.

[CalL1981]

I am triple negative but the Dr confirmed diagnosis of MPN through BMB. Your BMB showed evidence of MPN?

[hunter5582]

What you are describing sounds like triple-negative ET, assuming it is not a secondary thrombocytosis. In the absence of significant symptoms or being in a high-risk group, standard protocol would be aspirin + monitor.

Follow-up with a private consult with a MPN Specialist is a very good idea. Definitely worth doing. You could discuss the additional testing panels as cmc_ufl suggests. Here is one example. files.labcorp.com/labcorp-d...

Hope you get answers soon. Please let us know what you find out.

[Megabyte]

The second doctor said that the BMB had come back as showing “nothing out the ordinary” and therefore they couldn’t come to a diagnosis of triple negative - I think maybe the specialist in Edinburgh will be the answer - and will be worth the money. I just don’t know how to go about it. Guess my GP is a good starting point - but it’s just easier getting an audience with the Pope than it is seeing a doctor face to face right now.

[mhos61 in reply to Megabyte]

Hi there, just wondering if it’s Mark Drummond in Edinburgh that you want to consult with? If so, look for the post “Finally decided to go Private” by Peetzil.

The good thing is she has been able to refer herself through the “Spire” website.

[Megabyte]

Yes it is Dr Drummond - he gets a great write up. I’ll go and have a read at the post you mentioned. Thanks for the feedback.

[katiewalsh]

Hi. You’ve asked how to get your medical records. In the US you are entitled to get copies of all your records records & the doctor you’re going to see next can also request them. But if that doctor is private pay you might save money getting them your self. Maybe a patient from the NHS can answer. Good luck. Katie

[Megabyte]

Thanks Katie, yes it’s easier in the US I think - I found out that in the UK we have a right to read our medical records but they don’t actually belong to us - so I just wanted to find out before I go “demanding”!

[Mostew in reply to Megabyte]

Glad you have posted after ‘lurking’!!!!

I asked my practice for a copy of my records ( I’m in uk). They printed out and sent me everything dating back to 1985!!!! Interesting informative reading…. Unfortunately we need to be assertive at times to get things

You are in a good position as platelets not to high. Going private is good idea .

Also along side that checking vitamin , mineral levels. Looking at diet, and maybe getting support from an functional practitioner /Ayurvedic etc if that appeals to you . Conventional medics generally don’t place much importance on diet .

Stay strong and positive . Emotions have big impact on our health .

It’s not easy , especially when you don’t know why platelets are high.

This forum is such a good support. I never thought I’d join any online group . So glad I have

[Minu68]

Is mark drummond working in the nhs at all? If so, you can ask for a referral to him as a specialist, because you are not getting a diagnosis and they are actually saying they don’t know what is causing your raised platelets. Just tell them you want to be referred, and if you feel uncertain, contact your local patients representative service who can advise and advocate

[Megabyte in reply to Minu68]

Yes, he is usually at the NHS Beatson Hospital in Glasgow but I’ve booked a consultation with him now for the end of November so hopefully he’ll come to a conclusion and liaise with the haematology clinic and they can work together🤞

[Minu68 in reply to Megabyte]

Great! Hopefully he’ll have insight into what is going on x

[JP1952]

Hi, I'm in Wales and I saw an MPN specialist by contacting them directly by email, had to do some digging on Google. All he requested was a referral from my then haematologist which I got by ringing his secretary. He did ring me himself and I had a "telling off" for not informing him of my symptoms. I had to let that fall on deaf ears because I had told him repeatedly and he was dismissive.

I am so glad I did. BTW this was under the NHS.

[Megabyte in reply to JP1952]

Oh that was good - I’ve booked an appointment with the specialist in Edinburgh and am going to make an appointment with my gp to (a) tell her what I’m doing and (b) get an up to date record of my blood results and BMB. Hope all goes well with you.

[Paula770]

This is exactly the same as me. I have had high platelets since January 2021, around 650. The gene mutation blood test came back negative and the bone marrow biopsy came back as normal so I am no further forward. I have had ultrasounds, blood tests for all sorts and a CT scan all which show nothing. I have a phone appointment with haematology at the end of the month to see if my platelets have changed but they have suggested that either way they are going to discharge me as they can’t find anything wrong. I am at a loss. Hope you get some answers soon.

[Megabyte in reply to Paula770]

It’s so frustrating isn’t it. Are there any specialists near enough for you to travel to Paula. I just feel if the MPN specialist I am going to see at the end of November tells me the same as the haematologist at my local clinic, then I’ll feel a bit better. Fingers crossed for some sort of diagnosis.

[Paula770 in reply to Megabyte]

I’m in the southeast so could travel to London but it’s just trying to get a referral as I think some don’t take on private patients, will see how my appointment goes at the end of this month. I hope your appointment goes well in November.

[Jynx93]

My platelets were 480 when diagnosed with ET Jak2+ after a bone marrow biopsy,