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Autoimmune diseases, Blood disorders, Bone, joint, and muscle disorders, Cancer, Chronic pain, Digestive disorders, Eye disorders, Heart and blood vessel disorders, Hormonal and metabolic disorders, Infectious diseases, Lung and airway disorders, Neurology (brain and nervous system), Women's health issues
I just hope this isn't preventing you from getting the correct treatment/relief. I would imagine it does and understand your frustration. I have the exact opposite situation. High hemoglobin and hematocrit, low EPO but no JAK2 mutation. According to a DNA report that I just ran the other night, I do have variants in my JAK2 genes so I emailed my hematologist to ask if that would be helpful in a diagnosis. I'm pretty sure he doesn't like me much because I am VERY proactive in my healthcare. Have to be. I'm just a number to these doctors.
Hi Sue! All of my hematologists thought the flushing was due to polycythemia vera, but without the JAK2 mutation, you're highly unlikely to get a diagnosis. It's complete bullshit. I've had my blood tested for the JAK2 mutation and also had a bone marrow biopsy to check for the mutation, but both came back negative. Something like 95% of people with PV have this mutation so it is now a major diagnostic criteria from WHO. However, check this shit out! I saw a post from another thread here on Mayo Connect where someone mentioned that they had their DNA done through 23andMe and uploaded their raw data to a site called Livewello. Livewello searches through all of your raw DNA data and produces a variant report for you. You can actually get thousands of variant reports. Anyway, I ran a report on my DNA to check for any variants in the JAK2 gene and looky looky…hope this works.
Hi Emma, yes I saw a dermatologist who didn't offer any insight into the cause. Although he didn't see me while it was like it was in the pics I shared. The rash/flushing comes and goes. More often than not I have it, but there are times when it is not actively happening. I saw a rheumatologist back in 2014, but he suggested I get treated for the hep c before he could help me. I don't think the flushing was happening back in 2014. But the Raynaud's was (I get Raynaud's on my hands and feet), which was the reason I was sent to him. I will actually be scheduling an appointment with a rheumatologist in the near future. I saw a neurologist back in August of 2016 after I had fainted twice, back to back, one evening out of nowhere. He cleared me based on some basic hand/arm/eye physical exams and had me walk down the hallway and back. No blood work or scans or anything. The flushing wasn't discussed with him either as I was there for the fainting situation. I do have erythrocytosis/polycythemia, but can't get a diagnosis for primary and none of my test results suggest secondary. I also have uterine fibroids. Saw my PCP today and she ordered some lab work. Wants a CT scan of my chest done as a follow up to one that was done in 2014. Not sure why no one else has felt the need to follow up on that. Maybe because it was done during an ER trip. A couple punctate calcified granulomas were found and I had a positive d-dimer result prior to the scan. Anyway, I'm interested in seeing my lab results from today. Looks like the doctor visits will be in full force again. Ugh. :\