So after talking with the people at CHOP yesterday, and finding out they have no openings for months, we told our employers the situation and they accommodated us with smiles on their faces. We're so very lucky for all the support we continue to receive!
We took the appt for this morning at 9am at CHOP and spent about an hour with the doctor there. Sadly, the specialist who informed us that we are looking at osteogenesis imperfecta dropped the ball and still hasn't sent the records as I requested on Friday. After the doctor called them and spoke to that doctor, I then got a call from the secretary slapping me on the hand again through voicemail about how I "am not following their protocol" and "it'll get done in the appropriate medical timeline". AKA They feel like the jerks they should.
I know they are busy. But when you tell me to contact doctors to get info and not search the internet, and then I do just as you recommended, you're really going to talk down to me? So my next appt with them should be nice and awkward....haha
So back to today's appt....they told us a lot of what we know based on the O.I. foundation website. They obviously couldn't confirm if it definitely is O.I. because they didn't have the ultrasounds, but going by what we told her and what the specialist told the her, she agrees it sounds like O.I..
They are quite certain this happened due to a mutation and is not likely to happen again if we choose to have more children. They said it's a 1 in 100,000 chance! (We should play the lottery) They can verify that it's a mutation after our son is born and can test his blood.
They gave us some contacts that are local to the Philly area that have children with ** so I'll be calling them soon seeking advice.
We shared the news on facebook tonight, here's a link to the video we put together
http://www.youtube.com/watch?v=4DqZix3zoZ8
Thank you so much for the continued P&PD, virtual hugs, and secrets threads that I'm not aloud near. You ladies know how to make both DH and I smile even when we are having a sad moment.
<3