Tuesday, September 2, 2008

The initial diagnosis

On May 28th, 2008 we finally had our appointment with the perinatal specialists at the Hospital. It had been one of the longest weeks of our life. We had no idea what to expect but went in scared and hoping for the Doctors there to make everything ok.

When we got there we were told that we would be having an ultrasound but it would be a very in-depth ultrasound that would measure every little thing on our baby and examine every organ, etc, etc to give her a total evaluation.

Of course, Chris went in with his usual sense of humor trying to alleviate some of the tension and asked if she was "still a girl". Confirmed - still a girl. :)

They truly did look at EVERYTHING! They looked at every bone, every vertebrae, her heart, her stomach, her kidneys, her ribs, everything. I had never had such a thorough ultrasound - it took almost an hour and a half. The technician was so good about answering questions as she did the ultrasound and showed us what she was seeing. As was indicated on the phone the previous week, we were able to see that her arms and legs were behind in gestational age in comparison with the rest of her body. However, everything else looked great. All of her organs were on schedule, her skull looked great, her ribs and spine were fine - she was just a bit behind with the long bones. Once she finished up the ultrasound one of the Doctors came in. He, again, went through all that we had been shown and told us that the reason her arms and legs were shorter is because they had numerous fractures in them. Each time they break they had to "catch up" their growth. This is where the diagnosis of Osteogenesis Imperfecta (OI) came in. OI is also known as "Brittle Bone Disease" and basically means that the bones are very fragile and can break very, very easily. There are several different types of OI - some very mild and others very severe and even fatal. At this point, we were starting to realize how lucky we were - she was being diagnosed with a very mild type (Type I or possibly Type IV) which meant that she may look completely normal and live a completely normal life other than having to be just a bit more careful as to ensure she didn't "break". When we realized how much worse it could be and that she could have been diagnosed with a more severe type we decided that we could deal with whatever we needed to once she arrived. They scheduled frequent ultrasounds for us and told us that they would continue to monitor her but that the chance that there would be a change for the worse was less than 9%. What a relief!

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