Shriner's OI Clinic

Jaela had her big day at the OI Clinic. It was such a good day! They set us up in a regular room like any doctors office, then had all the doctors come to us. First we saw the orthopaedic surgeon. She said if any surgery is necessary that it will be done when Jaela starts showing signs of wanting to walk. She said a lot of times that bone curvature in children this young will correct itself so there's no need to do any surgery for now. That's mostly all she had to say.

Next we saw the geneticist who was the most informative in my opinion. He sat down with us and explained exactly what went wrong and what it looks like. I'll try my best to describe what he said. It all made sense when he was explaining it, but when I sat down to type it my mind went blank.

This is what collagen protein gene should look like in a bone. The mildest form of OI happens when the connectors don't connect the proteins.



Jaela's form of OI (which is more severe) looks like this. I apologize for my rudimentary computer graphics skills...




It's not that the proteins aren't connecting, they just aren't forming right. Mild is when most of the protein is formed correctly then goes wrong near the end. Severe is when it stops forming closer to the beginning so more of the protein is wrong.

He did say that she is on the mild side of severe which is a good thing. It's got be be better than the severe side of severe at least.

Next we talked to the pediatrician. She told us more about the drug Pamidronate. It's supposed to help strengthen the bones and help them grow better. It's a three day IV transfusion to get the drug. It takes four hours each day. The first time we have to check her in because children tend to get a high fever the first time and they want her there to keep a close eye on her. For a while she'll get these treatments every two months. If she handles the treatments well and we can find a facility in Logan, we can start to have them done here and not have to go clear to Shriner's every time. THIS is a link to a good site about the treatment if anyone wants to read more about it. This is also a good website for any OI information as well.

Last, but not least, was the physical therapist and OH MY!! He came in and scooped Jaela up in his arms and starting "tossing" her around and I think both mine and Jeremy's jaws hit the floor! We thought we were getting good at handling her but he was just fearless. It was good to see that she can be moved a little bit more freely than we thought, but she's been awful cranky when we've picked her up since. I think he may have hurt her a little bit. But anyway, he's getting us set up with a program called early intervention which is a group of physical, occupational, and speech therapists that will help us get her to develop her motor skills and help her learn how to eat better. They'll come to our house and help me here which will be wonderful. It's not always so easy to get Jaela places by myself.

That's all I can remember for now. If anyone has questions or wants something clarified just ask. We'd be happy answer :)