Next steps

[Megabyte]

Just had a doctor from the hospital on the phone to tell me that my tests to establish which gene mutation I have has come back as negative - so I have to now go in for a bone marrow biopsy. I know this isn’t a pleasant procedure, but I can pull up my big girl pants and get on with it - however it means another three or four weeks before it happens then another two weeks after that before I can ask questions - so, my main question maybe can be answered here - what does this mean? Sorry to come across as so needy, but patience isn’t really a virtue

[cmc_ufl]

Hi there. I’ve been in the diagnosis process since January - currently being evaluated as a possible “triple-negative” ET. Platelets 430-450 for 10 years with reactive causes ruled out. No anemia, no inflammation, no infection. Tests for mutations in the 3 “driver mutations” - JAK2, CALR, and MPL - all negative.

Your past post mentions they’re calling it ET. You are likely being evaluated as a possible triple-negative ET since your tests for mutations came back negative. Around 15% of ET patients are triple-negative. This means a BMB is now required to formally establish your diagnosis

What are your platelet levels? What about red blood cell counts like hematocrit and hemoglobin?

Wishing you the best.

[Megabyte in reply to cmc_ufl]

The doc was still calling it ET and my platelet level is 530. Not sure if I’m using all the correct terms at the moment - don’t know about red blood cell count - apart from the original diagnosis chat, I haven’t seen anyone to ask. Meeting was meant to be on Friday, but because I’m going in for an BMB that appointment has been cancelled.

[cmc_ufl in reply to Megabyte]

If they’re saying ET, your red counts are likely normal (abnormal would suggest PV rather than ET). It is not uncommon to be triple-negative with ET (~15%). There are many here who have received that diagnosis. In this case, a BMB is required for a formal diagnosis. They will be looking at your megakaryocytes (precursor cells that produce platelets) and their number and morphology.

[Megabyte in reply to cmc_ufl]

You have just made me feel a whole lot better, thank you so much.

[hunter5582 in reply to Megabyte]

Be sure to always get a copy of your CBCs and other labs. It is very important to keep track and after some time it is hard to remember what value happened which time. Your lab or doc can usually print a historic view that will put the numbers into a chart format for comparison. Many labs now have a patient portal where you can go in and view/print your labs yourself.

[Megabyte in reply to hunter5582]

CBC’s? Sorry just trying to work out all the terminology.

[hunter5582 in reply to Megabyte]

The basic blood tests we do a lot are:

CBC - Complete Blood Count. AKA FBC-Full Blood Count

CMP = Complete Metabolic Profile

BMP = Basic Metabolic Profile

vWB Panel = von Willebrand Panel (test for clotting factors)

PT-INR = prothrombin time (clotting time test)

PTT/aPTT = Partial Thromboplastin Time/ Acitvated Partial Thromboplastin Time

[Wyebird in reply to Megabyte]

You will get used to it’s a sort of a short hand. I still have to google 😀

[hunter5582 in reply to Megabyte]

Sounds like you have a good attitude about the BMB. No one wants to do them, but they are sometimes necessary. Perhaps your provider can offer a bit of nitrous oxide to make the procedure more tolerable.

Here are a few sources on the triple-negative MPN phenomenon to get you started. You will find people here on the forum who know considerably more and can offer additional resources.

ncbi.nlm.nih.gov/pmc/articl...

researchgate.net/publicatio...

youtube.com/watch?v=Oc8ujrS...(Not working as expected?)

[IrishSarah]

Waiting for answers is really difficult Megabyte so no need to be hard on yourself 💚 The bone marrow biopsy (BMB) will give your haematologists a really good picture of what’s going on, as another slightly impatient patient I’m glad I had it done despite the mildly torturous waiting period!

As far as the BMB - experiences vary. I found it painful, others barely felt it. Best advice I could give you would be to ask for some light sedation beforehand.

It’s also totally normal to have a million questions pop into your head between being told you have a suspected MPN and getting a formal diagnosis. Most haematologists will completely understand that. Mine was happy to chat on the phone in between to answer questions so don’t be afraid to ask for extra time & support at this early stage.

[Megabyte in reply to IrishSarah]

Thanks for that Sarah - I haven’t actually been assigned a doctor yet - I’ve spoken to 2 different ones so far. I know I’ll be given a “named person” eventually but, like you said, it’s the waiting.

[IrishSarah in reply to Megabyte]

I’ll be keeping fingers crossed that it all moves quickly for you 🤞🏻🤞🏻🤞🏻

[Otterfield]

You have had loads of helpful replies but I will just add that a bone marrow biopsy is not necessarily painful or unpleasant. Ask for a local anaesthetic (sedation is even better if it's offered) and bear in mind that it doesn't take long and any discomfort is fleeting.

[Megabyte in reply to Otterfield]

Thanks - I’m actually ok with “discomfort” or pain, and I know they’ll numb me up - the doctor spoke about similar to the dentist. It’ll be over and done with quickly. I will just be glad to get a proper diagnosis and some answers to questions.

[Otterfield]

Your doctor is right. In fact I would far rather have a BMB than a session with an enthusiastic dental hygienist! Hope you get a proper diagnosis soon - waiting is horrible.

[Runner999]

And the other thing to remember is that "treatment" is not essential in the way it would be with an "attacking" cancer - say breast cancer or bowel. Your treatment may be no more than aspirin. Even if a "cancer" drug is advised, it is to reduce platelets and likeihood of a life threatening clotting event and it is not a cure. It is also likely that you have had the condition for a while and a few weeks to get full diagnosis makes little difference in the greater scheme of things!

[Tess74]

Good luck with it all, one suggestion is to get a copy of you BMB report to keep for your own records x

[izzydrc]

it just means you dont have the mutation he checked for, dunno which he checked for but jak 2 is the common first. it really does not mean anything, the bone marrow biopsy will tell more about the disease and which you have. as far as the bone marrow biopsy, i just went through that almost a week ago, still recovering but for me it was not all that bad. I have had much worse happen and would choose the biopsy over them, lol. I hope you have the same luck. they even had to do it two times because the first spot was a dry tap.

[levismama in reply to izzydrc]

Hi Izzydrc,

What’s a dry tap?

[izzydrc in reply to levismama]

They couldn't get anything from the first tap. They had to move to another spot and do another hole.

[levismama in reply to izzydrc]

Thank you.

[Wyebird]

Do you mean what does negative results mean? I think it means no mutated gene found but seeing as new mutations are regularly found the a BMB will help the doctors diagnose you. They will look at how your bone marrow is working. I’m sure others on this site will have far better info. Good luck xx