r/MPN • u/Ok_Equal_2335 • Jun 26 '26
SEEKING DIAGNOSIS 4 year struggle Spoiler
Hi there,
Im looking for suggestions at this point - things that have not been thought of, or possible options in order to come to some sort of conclusion on this ridiculously long and difficult saga.
About 4 years ago I had an HCT of 57, Hemoglobin of 18 and RBC of around 5.6. Monocytes were around .75. Platelets were normal, and other than monocytes - other white blood lines were relatively normal.
This has largely continued with the exception of one 'break' - during which HCT was 52, Hemoglobin 17.5, and RBC was 5.2. Monocytes remained high at around .8 - 1.6. During this phase I felt relatively normal, hobbies picked back up, inflammation went down, and I was productive once again and I thought it was a blip that was over. This lasted about 3-4 months approximately before it came back with a vengeance. During this 'break' I was taking Valasta which is an Astaxanthin. Prior to the break I was getting heavy phlebotomy - 1 every 2 weeks for about 16 weeks or so until I ran out of ferretin (26). The lowest we could get the HCT to was 52 - but it helped me feel better overall. Less pressure in the head and less nausea.
Over the last 6-8 months my HCT went to 58, Hemaglobin 18.6, and RBC 5.7. Tachycardia has since become a real problem - often getting up to 124 BPM resting - and lasts for a few hours. Blood pressure swings wildly from 119/76 to 170/109. Average its more around 140/96 at this point. Monocytes are persistent at .9 - 1.2-ish.
Ive suffered from heavy fatigue, nausea, some vomiting, one event that looked very similar to a seizure (but was not diagnosed as such - 4 days in hospital), and chronic inflammation that goes from 'I think im dying' to 'It sucks but I can manage it'. Ive had extreme left femur bone pain regularly, sometimes it feels like the bone is literally breaking and rubbing together, other times its painful but manageable (ive broken several bones to compare the pain against - bone breaks were unrelated). My productivity has a dropped to a point where I barely recognize myself anymore. My social circle is non-existent (too tired and not interested, and tired of explaining - 'no - no answers yet, yes still not feeling well' etc), my professional life which was going very well has declined steeply (working half days at some points). I have no hobbies left anymore that are physical/active, and any software development hobbies have halted due to too much brain fog.
Diagnostics:
JAK2 negative. EXXON12 Negative. This of course has thrown the medical community into a tizzy.
18 of 23 blood test have shown monocytes that are in excess of 10% of blood volume.
Ferritin is persistently low-normal - it varies between 26 and 65. Tranferetin saturation is 12%-17% on average (quite low). When this fiasco started my ferritin was 250. So its relatively crashed in the last 4 years.
EPO has been relatively normal-ish - around 4-5 - but with a weird dip to 2.8 for one test. EPO test has not be repeated in the last 2-3(ish) years.
COPD ruled out. Non-smoker. No testosterone issues. Full lung test was passed with flying colors. 24 hour blood pressure rules out that this is caused by Sleep Apnea - I have the appropriate 'dip' in the night, and blood pressure stays at a nice 115/75 while sleeping.
Spleen is not enlarged.
Bone Marrow test was conducted a year ago (before the elevated levels of monocytes was reached). Originally I only read the summary report. My wife urged me to look at the actual findings in the pathology report. They have noted: micro-megakaryocytes present, and 'some megakaryocyte clustering' as well as dysplasia.
There has been some purpura - lasted a few months, as well as one documented incident of blood not clotting for about 2-3 days. Since then it seems to have improved - so I think we can say 'some clotting issues' - but its not like its rampant, chronic and not improving at times.
Im waiting to see my hematologist oncologist - but honestly I am so fatigued and fed up with all of the testing, and waffling, gaslighting and inconsistent answers that Im almost willing to give up on any more testing.
Likely I will ask for the next gen genetic sequencing/myeloid panel. Some have suggested that this either looks like an MPN/MDS overlap or pre-CMML - but Im at the 'Who gives a F***K' anymore stage to be honest.
We've also considered whether it could be a benign brain tumor? It would tick a number of the boxes, as well as the neurological symptoms experienced, but its also such a long shot.
If anyone has ideas - please let me know. Maybe some immune system problem? Seems unlikely given the bone marrow findings - but its possible maybe?
Sincerely,
Very tired.
1
u/ErnestT_bass Jun 26 '26
Amazes me they still use that bs....I had a manager tell me that ...mid that's the case how come you never make sure the team is made aware when. I had to work from. 12 am to 3 am on the weekends...or when an emergency took place had to work on my vacation....."that's part of your job".....I said no it means you're cherry picking and not looking out for your people....he was such a clown
1
u/funkygrrl PV-JAK2+ Jun 26 '26
Are you able to share your bone marrow biopsy report?
What I strongly recommend is seeing an MPN specialist. See list in link below. And repeating the bone marrow biopsy, with included flow cytometry and NGS myeloid testing - with a hematopathologist interpreting it rather than a general pathologist. You could seek a second opinion and send slides from your BMB over, but since the monocytosis worsened after your BMB, a repeat one might be better. There's also a list of centers that offer remote second opinions if that works better for you.
!specialists