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Hi MJ,
I am still waiting on my labs. I guess it will be another four weeks. I definitely have the classical form, but it looks like I may have the vascular one as well. It is hard waiting. From the family medial history reasearch I’ve done it looks like both of my grandparents on my mom’s side had it. I think my grandmother had the classical form and I believe my grandfather had the vascular form. There were a lot of AAA and sudden heart related deaths, Including children on grandpa’s side. His mother also died suddenly. I have already had a brain bleed. My mom and her siblings have had a lot of vascular events too. My Grandmother had all the classical signs and so did her siblings. It is sad that after all the generations and all the persons affected, including doctors, that it was me that figured it all out. I am a clinical laboratory scientist not a MD. Although, I have taught doctors and worked in the medical field for a while. I am mad at myself that it took me this long to figure it out. I really should have caught this sooner. Even the Geneticist was surprised I had not been diagnosed sooner, because I am text book. Even my doctor cousin did not figure it out when I seeked his help right after the brain bleed. Once I started to present my evidence to my doctors, like my PCP, they were like “oh wow, but it is so rare.” Funny when I was at the teaching hospital it was all about convincing the medical students and residents that not everything was a zebra, and now I am one. That is a big disservice we are doing we try to convince them to stop looking for the zebras. After I took a different job at a slower hospital when I would see something unusual and mentioned it to my supervisors, she would come back at me and say this is not blah Blah.. Meaning my former place of employment. She was convinced where her hospital was located no zebras came there, only normal and routine patients.
Shonda