Anyone diagnosed SM-AHN?

[shaks]

Jak2 and D816v CKit positive. Anyone dx with both mutations?

Systemic Madtocytosis and Polycythemia Vera

[hunter5582]

I do not have that joint mutation, but do have another JAK2v617f + NF1:c5425C>T. Polycythemia + Neurofibromatosis Type 1. Figuring out how these cooccurring mutations play out is really complicated. There s research underway about the impact of non-driver mutations, but I have not seen anything about D816v.

I hope you find some other on the forum to exchange info with. I found 2 others on the forum with Neurofibromatosis. Hopefully we all learn more over time.

[shaks in reply to hunter5582]

Hi, thanks for reply 😁

Sorry you have polycythemia and NF1, I have a dear friend with NF1 who I met at pain management at St Thomas in London so I do have some knowledge of what you have and dealing with. Hope you will find some answers from the research soon, D816v + Jak2 is rare and so complex but I am always hopeful we will find answers in future research. Keep well x

[hunter5582 in reply to shaks]

Thanks shacks. The same to you. It is tough when the combination if disorders is not well understood. I am fortunate in that my NF1 was very benign until about a yer and half ago when we found a brain tumor in my occipital lobe. I have is removed, which a while another story. Recently I have had some issues that may involve both PV related visual migraines (with no pain) and seizure-like activity where the tumor was removed. We are trying to get it all sorted out, but some things are not clear. They may never be.

Regardless - we carry on and cope as we must. I sure hope you find someone else with a more similar profile to your own to share information and experiences with. If not, please feel to reach out anytime. I can certainly understand what it is like to try to sort out what is what with co-occurring diseases.