8.24.10


Last week's Adolescent Medicine appointment went really well. The ultrasound results that she received in June were really encouraging. Also, the steroid cream that we have been using worked really quickly and her breast buds have almost disappeared. We will not have to follow up with this department any more, unless we see any changes in these areas.

Yesterday, Aimee and I met with the Genetics department. The Chromosomal sequencing test came back normal as well as two tests for specific disorders. They took two more blood tests. One more for another DNA syndrome and another for a muscular disorder. We are expecting these to be normal and will receive these results in about 2 weeks.

We also had blood drawn to bank Aimee's DNA. Basically they are just freezing it a
nd keeping it on hand. In about three weeks there is a genetics convention at Children's and Aimee's case is going to be discussed. If there are any suggested DNA tests from this convention, we will not have to come back in to the hospital in order to have them done. Also, in the future, if any new tests are thought of, we will have that option.

At this point, the genetics team does think that Aimee has a genetic disorder, however, they do feel that they have ruled out the possibility of a dominate gene. This leaves us with the strongest possibility of reoccurrence being a recessive gene from both sides (25% possibility). It could also be a change in the gene, meaning that the possibility is quite slim of a reoccurrence (about 5%). Thus, with the information that we have been able to gather to this point, there is a 5-25% chance of repeat in any future children.

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