New Here - Working on a Diagnosis

[ChelseaF]

Hello everyone! I just thought I'd share an introduction. I am Chelsea, almost 39 married with four kiddos (1, 6, 11, & 14). I have had high platelets since at least 2006. I did have two normal counts in 2005 but I was pregnant at that time which sometimes lowers them so we are searching for earlier medical records and hoping to find something in the military archives as I was an Air Force brat. I did feel significantly better when I was pregnant so I think it's possible they were high prior to my pregnancy and perhaps my lower platelet count helped rid me of symptoms.

I was unaware of my high platelet count until last July when I saw a new doctor for upper left quadrant pain. He assumed I was already aware but my previous doctor had never told me which is incredibly frustrating since I have been complaining for many years of fatigue, dizziness, etc.

Anyhow, because of the length of time that my platelets have been high my hematologist immediately suspected ET but he tested me for secondary causes. Iron studies have been normal, inflammation markers normal, ANA test normal, etc. I also went ahead and did some cancer screenings to be safe and they were normal. I was tested for genetic mutations and have been negative for all of them. Bone marrow biopsy noted absent iron stores (but anemia ruled out with repeated iron studies) and mildly increased reticulin fibrosis but was otherwise unremarkable. I did a trial of iron supplementing even though the hematologist thought it unnecessary and it had no effect on my count. The biopsy sample size was very small (half a centimeter) and I don't know if this would have affected the result.

Still my hematologist doesn't believe that I am reactive and he referred me to an MPN specialist. The MPN specialist also believes I have ET and he kind of dismissed the biopsy as non contributory. He is a researcher (Dr. Prchal at Huntsman Cancer Institute) and so is able to perform some type of clonality testing on my platelets and we are currently waiting for those results.

I'm nervous! I've done enough research on ET that I'm not especially worried about having it. I'm more worried about where to go from here if I don't. I feel unwell. Current platelet count fluctuates in the 7-800,000 range.

I look forward to getting to know you all!

Chelsea

[Skyehope]

Hi Chelsea

I'm sorry that you're still trying to find a diagnosis for your symptoms. I'm new on here too; I'm 38 with one son who is 3 and am JAK+ MPN (between PV and ET apparently - I don't make things simple).

I had a 6 week wait between suspected ET announcement and diagnosis and it felt like the longest 6 weeks ever. I also kept worrying about what I would do if it wasn't ET. I would say though that it's great you have an MPN specialist looking in to things for you and I'd imagine they get a good feel for identifying MPN's, so trust their instincts and try not to imagine other scenarios until you are faced with them (if you are!).

Try to enjoy your family and not think too much about results that you have no control over. Easier said than done I know

On a side note, it's funny how being pregnant can make you feel the healthiest you have ever been isn't it! I hardly ever had to take my asthma inhalers while pregnant even though I used them daily before, and I don't think I had so much as a sniffle the whole time either. The human body is a fascinating machine.

All the best for finding a diagnosis soon x

[ChelseaF in reply to Skyehope]

Thank you! I'm trying not to worry but it is hard. I like to have a game plan in my head but I truly don't know what the next steps will be if I don't have an MPN. We have ruled out so many things.

I do trust my hematologist and my MPN expert and I'm grateful to have access to them.

I have met a handful of people since July who are caught in a place of not being able to verify the presence of an MPN or find a secondary cause for their persistent thrombocytosis and symptoms. Most of them have given up hope of feeling better. I feel awful for them.

[Skyehope in reply to ChelseaF]

Sometimes the not knowing is the hard part, and my heart goes out to those who are constantly seeking a firm diagnosis but never finding one. I am very fortunate that I have the mutation that showed up in one of the first tests they did and I was relieved to have a disease name that I could finally research and move forward with. I'm a planner like you so the unknown is worse as you feel unprepared and more than a little lost.

I will pray for you that your results are quick and definitive. Do keep us updated and let us support you if you need it

[ChelseaF in reply to Skyehope]

Thank you, Skye!

[Mazcd Partner MPNVoice]

Hello Chelsea, welcome to our forum. I am not surprised you are nervous waiting for a definitive diagnosis, once you know for sure what you have you will be able to move on and get your head around it all. It does sound however that the doctors are looking very thoroughly into all of this for you, so hopefully you will know soon. In the meantime, try and stay positive. Let us know when you hear what you have. We are all here to help and support you so any concerns you have just let us know, someone will always answer you. Best wishes, Maz

[ChelseaF in reply to Mazcd]

Thank you, Maz!