thrombophilia
Went to the doctors with Kelsey today - didn't realize the genetics department is part of OB/GYN (duh on my part) - we get there, it's so packed there's no where to sit - and everyone was staring - joked that they were just trying to figure out which one of us is pregnant.
Got in at 11:05. Got out at 12:30. Went through SO much history and details and the woman's knowledge was just astounding. Every little thing was of interest to her. Talked through my dad's stuff, and my stuff, and when we got to the Fibro part, and she started to ask Kelsey if she could do any "weird tricks with her joints". Like take her thumb, and bend it backwards to touch her arm (she can). Said she suspects something called Ehlers-Danlos III Familial Hypermobility. But that wasn't the reason we were there, so we dug into more - that's when I found out that when Kelsey was 2, she had an adult sized head, and the pediatrician was very worried about her - and that this may have been related to whatever caused my nephew's hydrocephaly. And on and on.
They are testing Kelsey for a Prothrombin Gene Mutation, Factor V (aka thrombophillia?) - not knowing if her father has it, she has a 25-50% chance, but the dr thinks it's less because of Kelsey's three surgeries and lack of problems. I guess the main good part of knowing is we can be careful with meds, and apparently this can be a real issue with pregnancy.
So we'll see.
I asked about the possibility of the Meningioma being hereditary - she said she couldn't say - that until they figure out what causes these, they can't tell if it requires a genetic trigger or not.
Got in at 11:05. Got out at 12:30. Went through SO much history and details and the woman's knowledge was just astounding. Every little thing was of interest to her. Talked through my dad's stuff, and my stuff, and when we got to the Fibro part, and she started to ask Kelsey if she could do any "weird tricks with her joints". Like take her thumb, and bend it backwards to touch her arm (she can). Said she suspects something called Ehlers-Danlos III Familial Hypermobility. But that wasn't the reason we were there, so we dug into more - that's when I found out that when Kelsey was 2, she had an adult sized head, and the pediatrician was very worried about her - and that this may have been related to whatever caused my nephew's hydrocephaly. And on and on.
They are testing Kelsey for a Prothrombin Gene Mutation, Factor V (aka thrombophillia?) - not knowing if her father has it, she has a 25-50% chance, but the dr thinks it's less because of Kelsey's three surgeries and lack of problems. I guess the main good part of knowing is we can be careful with meds, and apparently this can be a real issue with pregnancy.
So we'll see.
I asked about the possibility of the Meningioma being hereditary - she said she couldn't say - that until they figure out what causes these, they can't tell if it requires a genetic trigger or not.