I don't mind you asking at all...I just have to find my blood work.
Until then I'll tell you what I remember:
In November 2012, I was in the hospital right after my surgery for Chiari malformation and Dr. Henderson said he had ordered some specific blood work because he had some concerns. He didn't say why. They took blood and a blood specialist came in to talk to me.
The week of Thanksgiving I had missed several calls from the specialist who had seen me in the hospital. She was very concerned; she said I had several rare blood disorders that she had to notify me about. She was a young doctor and had never seen this collection of blood disorders together in one person. Individually, they each increased my risk of stroke; together, they increased my risk even more.
I will follow up with the details when I find the paper work.
However, I will qualify this with the fact that my mom had polio as a child. Back in the 30s, I don't know what they used to treat it-she was hospitalized for over a year and had to learn how to walk again. I'm one of eight children and among us, 2 have mitral valve prolapse, one is legally blind, one had 3 brain aneurysms (which resulted in him not speaking until he was 9-but he had a genius IQ), another brother didn't speak until 3 and one sister has epilepsy. We've always wondered what caused all these health issues.
I know there's a strong genetic component to F5V, and my younger sister got tested for it when she was pregnant with her oldest after telling her OB I had it. Probably should have both my sons tested, but we haven't gotten to that point yet.
They say children shouldn’t be tested until after 9 Yeats old. Just be sure they do genetic testing as the Reactive Protein C tests arent always reliable.
I have never found a pediatric ns or neurologist willing to do any genetic testing on our son. It’s is breezed over and ignored if I bring it up. Any suggestions would be great as I know many things can be associated with chiari. Appreciate any recommendations!
Generally testing isn’t done into adulthood anyway because clot risk is low in childhood. If you have both genes I would push for testing. Otherwise just as you Dr. to avoid meds with increased clot risk until he has been tested. My daughter has CM1 but not Factor 5. 1 of my sisters has CM1 and neither of my sisters have Factor 5. Let’s hope the best for your son!
Thanks pebbles! I was thinking too about neurofibromatosis which our nephew has (also chiari and juvenile diabetes) it make what our little guy goes through look like a walk in the park!
My mom & I have uterine fibroids in the same place and I have recently had neuro fibroids in my armpits. Crazy to think that could be a gene mutation as well! Another question to add to the list for the Dr. I guess…