tag:blogger.com,1999:blog-7808146268393461519.post1382964821139283315..comments2023-03-30T02:22:59.717-07:00Comments on Life with Joel (and his eye): Genetic Testingtraciehttp://www.blogger.com/profile/04033725773407398753noreply@blogger.comBlogger3125tag:blogger.com,1999:blog-7808146268393461519.post-84449913621388845972011-02-20T06:12:50.687-08:002011-02-20T06:12:50.687-08:00There are specific traits that define retinal scar...There are specific traits that define retinal scarring due to toxoplasmosis, from what I've been told in all my questioning. My blindness hasn't occured in L my 1 yr old and I was told at the time my blindness wasn't hereditary, my mum did a lot of research before having her second of course, and it was 30+ years ago so I'm sure there is some validity in these genes. Interesting to read, but doesn't change anything for me now. Made it this far!!!Bronwynnhttps://www.blogger.com/profile/06327766435663883555noreply@blogger.comtag:blogger.com,1999:blog-7808146268393461519.post-8832172462204486392011-02-17T02:22:42.365-08:002011-02-17T02:22:42.365-08:00Yeah that's exactly what I think, I'd just...Yeah that's exactly what I think, I'd just like to know for Joel's sake. Obviosuly doesn't bother me either way how/why/when it happened but if it IS genetic i'd like to know that for sure. I've just edited the post to add in an articel I just found, it's a very interesting read.<br /><br />On the yahoo PHPV group, there was a lady once who was compiling data on as many mums as she could find with PHPV kids, she was asking those sorts of questions - were you sick/fever/gastro when you were pregnant, did you take these particular medications, heaps of things like that. She really wanted to know if there was a connection, I'm not sure how far she got with it, I didn't have anything like that when I was pregnant, so I didn't reply to the questionaire but it would be interesting now to know the results.traciehttps://www.blogger.com/profile/04033725773407398753noreply@blogger.comtag:blogger.com,1999:blog-7808146268393461519.post-46184958962620817192011-02-17T02:12:48.827-08:002011-02-17T02:12:48.827-08:00I've also been reading about this SOX2 gene an...I've also been reading about this SOX2 gene and am going to ask our PO about it at our next appointment - he said William's Micro/Cataract/PHPV is a fluke but I'm wondering about a virus infection, anyway it would be good to know for William's sake. <br /><br />They say the eyes are developing within the first weeks of conception and when I was 6 weeks pregnant I got something that made me feel really sick and was in bed feeling really sorry for myself over 4 days. I thought it was morning sickness but Jason, Lexie and Sophie had all been sick as well. When I had the 20 week scan it said the baby had an Echochognic Bowel but the reports said "of no concern" (I hadn't heard of Echochognic before however my midwife had heard about it in the brain and heart for Downs/Trisomy 21 but never in the bowel). My midwife asked a Gynacologist at the hospital (not until I was 28 weeks tho) what that meant and she said it could be a sign of Downs/Cystic Fibrosis/CMV Virus or Toxoplasmosis. Anyway when I found out about this info I was already 28 weeks pregnant and I wasn't going to go for an amnio as there wasn't anything I could change and I didn't want to anyway! I haven't really thought about it until now and just wonder if that could have been the cause of his micropthalmia (he didn't have the stalk associated with PHPV) But knowing my PO he'll dismiss it as a fluke and I'm sure he'll say it should of happened in both eyes if it was a virus (but a friend is blind in one eye and her mother had toxoplasmosis while pregnant with her). It would be interesting to know but I guess at the end of the day it doesn't make any difference. However it would be good to find out for William just in case it is a gene thing.Kirstiehttps://www.blogger.com/profile/03812018853904099262noreply@blogger.com