Pre-natal diagnosis

I have been wanting to post this link for a while now and just remembered it...

I have written about our ordeal before, about how we were told at 35 weeks that Fi would have a skeletal dysplasia for sure. Which could be mild to lethal and there was no way knowing. I knew that such a vague "diagnosis" at 35 weeks couldn't be right, so I contacted the incredible Dr Philippe Jeanty... His pre-natal diagnosis was spot on and he asked for our permission to publish our images so other sonographers in the world could learn. You can see the ultrasound and Day 1 x-ray images here

He is an amazing doctor, totally in love with his profession and runs s weekly quiz of difficult cases and sonographers all over the world try to solve them.

Awwwwwwwwww

I sent the amazing Dr. Jeanty a picture of the one year old Fiona. He has helped us so much last year when we were trying to get a pre-natal diagnosis, I decided that I would make it a thing to send him a yearly thank you e-mail and a picture. I know I am a weird stalker like that.

Other than saying how extremely cute she is, here is what he had to say: "Size does not matter much anymore, no more wooly mammoth to hunt and she will do quite well !" - He is too right!!!

Pre-natal diagnosis 1

The link below is a MUST read for anyone who is expecting a baby and is told that the child would have a skeletal dysplasia, and the severity could be mild to lethal, we were told this at 35 weeks.

Now I know that fetal medicine doctors who have very little idea of dwarfism and where there are no protocols in the hospital to involve a specialist, do frequently say this to patients... It is so wrong on so many levels.

I don't think there is anything more frightening than this sentence being thrown at you, " could be mild to lethal and everything in between, get ready you will have to give birth in a few weeks, good bye..."

This sentence was the one that started me on my research jag, I have faith in science and knew that the answer had to be available you just had to search for it long and hard and I was right...

Just by reviewing this file, we knew that Fi would most likely have achondroplasia or hypochondroplasia. And the amazing Dr Jeanty just looked at the scans and said that it wasn't achon, but it would be most likely, nothing at all or hypo or something very rare, but he didn't think that.... When I spoke/e-mailed with him, I felt like talking to God, he is the man who authored many of the limb measurements that are programmed into the ultrasound machines... When I asked him how he knew that she would have hypo, his answer was classic: "Just a feeling, I suppose the last bit of art in medicine..." Long live Dr. Jeanty!!!!

http://www.sonoworld.com/Client/Fetus/files/skeletal_eng.pdf