It would figure that after I type up that huge post about our genetic situation I get a call from the geneticist on Friday. Yep - I finally talked to her and it was a very encouraging conversation. Since we last spoke she learned about the CHG Array that was performed on Gavin's blood. This is a fairly new and very detailed test on DNA. It can pick up MOST additions, deletions and rearrangements in the DNA strand. So, how did the test come back? NEGATIVE. It was completely negative for any additions, deletions and rearrangements. This is great news. If he did have an Otopalatodigital syndrome, it SHOULD have picked it up. But, as we have been told before nothing in genetics is a 100% guaranteed. Because of the test results the geneticist here decided to talk to the geneticists at PCMC to get their input.
She spoke with Dr. Rope at PCMC who is the doctor that worked with Gavin while he was alive. Dr. Opitz was the geneticist at the autopsy. Well, because of the negative CHG array test they are back to thinking Gavin might possibly have had CHARGE. However, the CHARGE test came back negative as well. About 40% of the children diagnosed with CHARGE have no genetic showings; meaning that their CHARGE tests came back negative as well. They just receive a clinical diagnosis and assume that's what their syndrome is. They are really thinking this could be the case with Gavin since they still can't find anything genetically wrong through these tests. We know that he had some type of syndrome, but the mutation must have been so small and isolated that it cannot be located. But - CHARGE is a syndrome de novo, meaning that we don't have an increased chance of having another child with CHARGE - if that's what this is.
I asked the geneticist if they ever encounter this . . . children without a confirmed diagnosis. She said, "All of the time." I then asked her what they tell parents to do about future children if they can't ever identify the genetic mutation. She told me that almost all of the time these parents go on to have children that are 100% healthy.
The geneticist here is still working so diligently. She told me to call back at the end of this week. She is still conversing with the PCMC geneticists, but we should have a better idea of their thoughts towards the end of the week. She told me that even if we get pregnant and have a healthy child they will still continue to work on Gavin's case until we say stop.
We are VERY encouraged to receive this news . . . but we are once again being cautiously optimistic. That seems to be our motto for this phase of our lives. We are so grateful for all of the prayers and thoughts on our behalf. We know the Lord truly knows our hearts and our righteous desire to be parents. How grateful I am to have the knowledge that I can turn to the Lord and receive direct inspiration. Having another child without a diagnosis for Gavin will be a huge leap of faith . . . but I feel that through this process we are getting closer to being parents again. YEAH!