Hi Everyone,
I seem to be posting more and more on here. I just heard back from my genetics counselor today. She sent my daughters tests, info and xrays/us to a doc who is supose to be the best in WI for skeletal dysplasia. He said from what he saw the he feels she could have something called Kyphomelic Dysplasia. Has anyone heard of this? I have an appointment in February to go and see the genetics again and the genetics doc is going to run some more tests on her to see what is going on. This dysplasia is a one of the femurs but everything I read seems to tell me that it is also followed by other things that she does not have. Aside from the short femurs she has no other issues. I have a question for mom who kids have the PFFD. When did your child start to crawl and walk? Were they born with hip dysplasia or is that something that just kinda goes along with the PFFD? My daughter is starting to try and crawl (I think) she will push herself up on to her knees and kinda rock or just thrust forward. But what is odd is that she uses the better side to anchor herself and will push more with the more affected side. As usual any info will be appeciated. You all are great I have gotten so much info from here and I am in contact with Dr Paley I just have to get my info to him.
Thanks
Wendy
crawling and walking
My daughter, Sami, has pffd. She's missing her left femur just about completely and has not hip/socket. She's class D. Sami crawled right around 5 months old...maybe 6. She was right on target with that. She would use her left foot to push off. It was better than a knee. Very efficient. It also helped with climbing!! YIKES!
Walking was in the normal range as well. She was about 15 mos. old when she took her first few independent steps. She received her prosthetic when she was about 13 mos. old. We weighted down a toy walking toy with a leg weight and she took off!!
Good luck with Dr. Paley. He'll spend a lot of time with you and give you a lot of info. Take notes!!
Libbi
Right Libbi...good
Right Libbi...good advice...he does give lots of information. The thing people need to remember, though, when going for ANY Paley appointment...there's normal time and then there's Paley Time....your appointment may be for 2:00 in the afternoon, for example, but it could be 7:00 in the evening before you see him. He takes all the time he needs for each patient...no matter how long it means the wait is for others. I appreciated that when it was our turn with him, and didn't begrudge anyone else his total attention like that. One night it was 10:30 before we got out. But...he sometimes had to spend extra time with us, too....worked us in when there were problems, waited while I cried, answered millions of my questions while I took notes, repeated his explainations when I wasn't understanding....and others waited. So when it was my turn to wait, I smiled and figured it was a small price to pay for having his undivided attention when we needed it. Just take a book and some snacks, and accept it as the way things are. It's okay...