Good News

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A few months ago we finally got a diagnosis for Claire. Dr. Bolduc at the Glenrose Rehabilitation Hospital did a gene karyotype and found a deletion on her 14th chromosome where she is missing the gene called FOXG1. They are calling it a variant of Rett Syndrome because it is so new that there isn't a real name for it yet. The only other reported cases are in a family from Italy. The children are still young so we really don't know how Claire will be affected in the long run and their case is also different. These children have the gene but it is mutated, while Claire is missing the gene. Apparently a mutation can often be more harmful than a deletion because the mutated gene can affect other genes.

Ryan and I had blood tests done to see if we contributed to this missing gene by translocation (basically, Ryan and I would have all the necessary components but when our DNA split when we gave half to Claire, it might have been missing the piece she needed). It's all very complicated and I wish I had studied more about genetics. However, if we had passed it on to her, the chances would be very high that any more children would have the same disabilities as Claire. (I don't want it to sound like we wouldn't want another child like Claire - she's been a huge blessing in our life but quite honestly it would put a very serious strain on our physical, emotional and financial well-being).

Well, today we got the good news that whatever happened with Claire was a rare occurrence and there is no increased risk for the same disabilities in any new children. It's kind of nice to have some answers about what happened.