OI

hola-I have news so I thought I would share with those that live in blog land still! We got to go to Jordyn's geneticist this week...yes 5 months earlier then expected! We went to Primary's and waited an hour-but our doctor was so worth the wait! Dr Carey is a pediatrician who specialized in genetics and then took a special interest in osteogenesis imperfecta (OI). He spent an entire hour with us explaining things, answering questions, and putting our minds at ease. He told us that clinically Jordyn does have OI-it was indicated by her gray/blue sclera, and both fractures. We could do a DNA test, but it is never 100% accurate, so we thought having been told by 3 physicians we would take it. So OI is brittle bone disease...her bones don't make enough collagen to make them strong like yours and mine. She is just prone to breaking more bones and will eventually get better as she grows. There is no medicine, no special diet...just caution...not paranoia! Jordyn has the most mild form of OI, type I. A few negative things about it-she has a chance of losing her hearing in adulthood, and her children if able to carry them have a 50% of receiving the same gene. We are so grateful its such a mild form and so glad she is in our family.

Dr Carey eased our mind as well cuz we were nervous about having more children with OI...but said it was a random mutation and not genetic. I wonder if this is from being exposed to radiation?? So he said that our next child will have less than 1% of receiving the gene. He said the best thing we can do is offer her a normal life and learn to set her limits now so she knows them when she is older. He said the hardest thing for us is to find that normal and not making her paranoid. Our followup care will be with Dr Carey at a huge OI clinic held at Shriner's hospital. We will go to the clinic once a year and receive all the care we could ask for-we'll see dentist, orthopods, cardiologists...and so much more! We will be in such great care and we are so grateful!

If you are bored and want to read more about it here is the OI website http://www.oif.org/site/PageServer