Hi,
We are waiting on an appointment with a pediatric geneticist who specializes in O.I. Blayz will be attending her O.I. appointments outwith our area, at a specialist teaching hospital. (University of North Carolina) They suggested she could have yearly I.V. treatments with pamidronate, but that was just a suggestion as yet, until we see the genetics specialist we won't know for definate what will be happening. The O.I. specialist has suggested my sisters 3 children be tested as they also have a history similar to that of my daughter, but so far have been diagnosed with hypermobility of the joints. I will keep you posted on the results of further testing.
Thanks again!
Hi Pauline and Blayz,
How are you feeling now?
I am so glad and happy that our discussion and questions with each other has led to a confirmed diagnosis of your child. It deepens my confidence as a concerned clinician and a good paediatrician.
I would like to know what treatment management is being planned for her?
What about her investigations, have any results come?
Keep me informed if you have any queries.
Bye.
Hello again,
My daughter has spent this week at the doctors office with both a pediatrician and an O.I. specialist. She has been diagnosed with O.I. plus dental. Thanks for all your help, answering all of my questions. Without your answers i would not have known which questions to ask. Asking questions is what led to my daughters confirmed diagnosis. Pauline and Blayz.
Hi Blayz Moon,
What is your name Madam?
You can ask for DNA mutation analysis (blood test), which is available through specialized labs.
Dermal punch biopsy can be performed at a later stage to analyze collagen if routine diagnostic criteria are inconclusive.
Keep me informed.
Bye.
Blayz sometimes appears to have difficulty hearing (Don't all young kids!) but she has not been tested as we had no reason to test her until now. Both her eyes have a blue tint to them. Her face is triangular in shape. She is not short for her age though. I myself have terrible teeth (what i have left anyway) despite always taking good care of them. I have only broken a few bones in my life though, nothing big. My husband has decent teeth and also has broken only a few bones. They mentioned something about the laxity of her achilles tendon on one of her notes a few months back. The dentist said he coulnd not believe the ortho doctors missed it, it was quite obvious she has blue eyes. (Not obvious to me of course, but obvious to a doctor) Her appoinment is on Friday morning. I will be asking for the genetic testing as well as the MRI. They will most likely try to pat me on the head and tell me to go home, like they always do (typical military - so used to dealing with soldiers they have lost all feeling for a small child) but this time i won't beleaving until they do as i ask. Will post the results of any testing when we get them. Thanks again.
Hi, thanks for your comment. She is 6 years old. The dentist says osteogenesis imperfecta is a genetic disease and it can be given to the child by either parent but it can also be caused by a gene mutating by itself. It is usually carried from the parents but not always. She has an appoinment with Ortho on Friday so i will be requesting the testing including MRI. Thanks again!