Internal Medicine and Genetic Reports

These photos may upload badly, but let's see.

The genomics lab sent me reports on certain conditions in which I am considered high risk. I printed them out and gave them to Dr. B yesterday, along with my raw data for Periodic Paralysis (previous blog post). He accepted it all with interest, recognized the validity of the gene.iobio database, and promised to upload the reports to my chart. We also discussed a high impact variant I am showing in gene COL6A3, which is Collagen IV Alpha III Myopathy. He agreed to ask his staff to try to find a Rheumatologist who accepts Medicaid. I won't hold my breath, but I appreciate the effort. COL6A3 is a disorder where the collagen which surrounds muscle cells is broken. This would explain some of my symptoms if I can get a clinical consult to address it. Considering many people in my support groups have both Periodic Paralysis and a collagen disorder (in many cases, it is diagnosed as Ehlers-Danlos), my chances of having both are pretty high, in my opinion.

I want to make clear the reports below are not a diagnosis. They show mutations in my DNA that support a higher than average probability of having or developing the condition.

Next year, I will likely have another Echocardiogram and my first Mammogram, if insurance OKs it.

I also expressed to Dr. B how much pain I'm in all the time. He prescribed a pain medication for temporary use, and Medicaid denied it. It's unfair that someone as ill as I am, with no history of addiction, is being refused a temporary script for pain. Insurance companies insist on demonizing opioids, and I understand to some extent why they are cautious, but patients with serious and painful chronic conditions are being discriminated against to the point that they are dying by suicide. I don't plan to be one of them, but I'm also not making any promises. I shouldn't be debilitated, sometimes vomiting from the pain, and refused treatment because some rando who doesn't know me is paranoid that I'll become a law-breaking addict. It's outrageous. This country is unbelievably cruel.

That is all I have to say for now. I will return soon.