Hello my 22 yo son is under the care of a hematologist since he had aDVST last February. Our journey has been very unclear which I’m finding can be the case with MPNs. His blood tests for JAK2 have been 0.4 % and when he had a bone marrow biopsy done the report came back as no detection of JAK2. Has anyone had a situation where the blood and bone marrow show different levels of JAK2? If so which would be more accurate?
Thank you
Kim
I have heard the bone marrow test is more accurate but best discuss with haem
That’s what I would think also but docs basically have no explanation for the difference in results. Thank you for your response
I think it might depend on which MPN doc you discuss it with, it’s also worth factoring in that we can be Jak 2 +ve and not have a MPN, the blood reading is also very low
Yes he seems to be an odd case from what I’m hearing from different hematologists and an MPN specialist. Hemoglobin 17.5 and hematocrit 48 so on high side and then the fact that he had the clot all makes suspicious for MPN
Hematocrit of 48 is perfectly normal for a male
Normal for non MPN person but too high if MPN
hi, I’m not medically trained but knowing what I know why wasn’t he tested for mutations full stop. There is Calr and mpl. ( something like that)
Sometimes a mutation doesn’t exist hence you are triple negative.
A worrying time for you.
I didn’t mention but yes he was tested for all mutations and the only one that showed up was very low JAK2 and his blood counts are all in normal range. It’s basically because he had the clot, JAK2 positive 0.4%, and bc his red blood is in range but in high end that they ( a couple docs) suspect MPN.
If he gets discharged get him to consider taking out some sort of savings. He might have difficulty getting a mortgage later on in life if he is diagnosed later.
I now it sounds a bit dismal but it was something that befitted us when we moved house. Hubby’s life insurance was way bigger than mine.( he was within 5 yrs of having cancer) For that reason we were able to increase our mortgage and move house.
Thank you for the advice. So a diagnosis can hurt your chances of getting a mortgage? I was also wondering how a diagnosis affects getting or changing health insurance
Definitely. Regarding my husband he had lymphoma. I wasn’t ill at that time so his life insurance stayed the same and mine increase. I have two travel insurances. One with my bank and won’t cover MPN’s so I have to then take out the cheapest to cover my MPN.
Sorry it’s unpleasant news.
In my case, my platelet count was nearly 600 and my blood test came back positive for JAK2, but my follow up bone marrow biopsy was inconclusive for ET. However, my hemotologist was still confident that I had ET and she started me on 500 mg of Hydroxyurea on a daily basis, which has worked well for me.
That appears to be the case. Technically, the bone marrow biopsy should confirm the platelet count and blood test diagnosis for ET per the WHO, but in my case it didn't. However, my hemotologist indicated that she was still very confident that I had ET and started the treatment plan using Hydroxyurea. My platelet count remains below 400 now, so all is good.
so glad all is good! With my son being 22 and wanting to have a family at some point starting any meds unnecessarily would be pretty devastating. We just continue down this unknown and confusing path. I feel horrible for him not knowing. Thank you for your replies
it’s hard enough to get diagnosed when older. A million times worse for your son and,of course, you.
If he isn’t already following Mediterranean type diet that would help .
Check all vitamin and mineral levels are optimal.
Best wishes to you both
MPNs in young adults are a very specialized area of expertise. There are a few MPN Specialists who have this very specific expertise. Not sure where your sone lives, but it would be worth finding someone who has the expertise he needs.
You did not cite whether your some is positive for other signs of a MPN such as thrombocytosis or erythrocytosis. The presence of these symptoms would be significant in the diagnosis.
Given how low the JAK2 mutation was in the blood test, I am wondering if the discrepancy may be due to the level of sensitivity of the JAK2 tests used. This would be a question for either the hematologist or the lab.
The occurrence of a DVT is certainly something that cannot be ignored. The low level JAK2 mutation detected is something that needs additional exploration.
Wishing you and your sone all the best.
Hi Bindi77
I was diagnosed in Dec 2020 with a BMB ET, Jak 2+. I displayed all the PV symptoms including itchy skin but it took about a year before my blood tests displayed all PV numbers. My 19 yr old daughter who had headaches often had her tested Jak2+ and ET in her BMB.
A few years later I am on Pegasys an interferon treatment which is a small needle in my hip once per week and it contols all my blood issues so now all my blood work is all within the optimal ranges. I also take an 81mg aspirin each day. Feel wonderful.
My daughter’s bloodwork is checked every 6 months and she takes a 81mg aspirin each day also. She is thriving. Her headaches are gone also. She is attending the University.
I recommend getting an MPN specialist to follow your son. I come from a very large family and only my daughter and I show any signs of this crazy disease.
Best of luck to both of you. 🌺🌸🌼
I was told at diagnosis that my body has a secret it can make blood clots BUT now we know it too. The actual “kind of “ diagnosis is positive. Please keep that in mind.
P.S. Many women on here have had children after diagnosis.
We are in Canada where they do not test allele burden.
This absolutely happened to me, the blood test didn't show ET but the bone marrow test did. I hope this is what works for your family and you have a good team looking after your lad.
So I guess yours was the opposite bc for him it was the blood test showing JAK2 and bone marrow not. I’m curious as to what results the doctors went by?
It was the opposite for me, I know that Bone Marrow is more accurate. With me, they went by Bone Marrow and sequenced the DNA. Hopefully you can get your lad with a knowledgeable team who can advise you both what to do.
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