It’s possible the geneticist wants the BMB more for research purposes, and your hematologists can’t justify it as medically necessary..

That's exactly what the geneticist said referring to one of the criteria that meets the 4 out 4 for being disease causing. Unfortunately, it's a very rare JAK2 mutation, so there's little info to know what condition it causes. It's considered of 'unknown significance' which unfortunately is interpreted by many hemotologists as insignificant. It's just so bizzare to me that I have to beg for the recommended testing requested by a world renowned geneticist.

It is my understanding that they use the first biopsy as a baseline to compare future biopsies on… so they can monitor any changes.

Thank you all so much 💟

I am sorry for what you are dealing with, and hope you are able to find some answers.