Pete and I had the opportunity to meet Owen's new geneticist on Thursday afternoon. Owen has been very ill and did not make the trip with us into Boston, but he was still the star of the show. Owen's previous geneticist moved out of state at the beginning of the summer and we were ready to start anew with a different set of eyes on Owen. We had very low expectations about what would be discussed at the meeting, but left two hours later with renewed hope.
We are running two new tests for Owen. One deals with a more detailed analysis of Owen's mitochondria. When we did the muscle biopsy in June, the results did show an abnormality. It is possible that this was explored and ruled out by Owen's previous doctor, and it did not show up on the Whole Exome Sequencing (WES), but we all felt it was worth investigating. They are also going to run a few tests related to Owen's creatine. There have been abnormal levels that our new geneticist, Dr. J, feels are worth exploring. The third new path is related to the abnormal sodium channel gene that both Pete and I passed on to Owen. When we received the WES results, this was the only useful bit of information it included. Pete and I both have an abnormal (although benign) gene. We each gave it to Owen. It is possible this is related to his disease. Seizure activity is related to the sodium channel genes, and we all know Owen has a very severe uncontrolled seizure disorder. Dr. J contacted some researchers in Michigan who study this gene exclusively and they are VERY interested in Owen. I have always felt there was someone who would find Owen fascinating; we just needed to find them. I am hopeful that Owen will provide some interesting information to these researchers; maybe they will be able to help solve the mystery that is my boy.
The second part of our meeting was genetic counseling. Pete and I are hopeful we will be able to expand our family in the future. We were seeking the statistics related to the genetic risks we face with future children. We have Ellie, so we know it is possible for us to create a healthy child. Our discussions were very scientific, there will be no wine or candles involved in creating a possible baby #3, but we have renewed hope for another child in the future.
All in all, it was an encouraging meeting. It is nice to have a glimmer of hope related to genetics after feeling like the door had been closed on us.
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