Kiran’s genetic appointment yesterday did not give us a lot of new information. We went over his whole exome sequence results in person (We had previously discussed only over the phone). We updated the doctor on his progress in the last year, and she did a quick exam. And, of course, took the time to answer all of our questions.
There was a noticeable difference in the geneticist’s enthusiasm and confidence that this candidate gene finding does explain Kiran’s diagnoses. She strongly, strongly suspects this is his overarching diagnosis. The genetic counselor, Kiran’s regular one (who was on maternity leave so it was someone different yesterday – everybody’s having babies!), was far more cautious in how she spoke to us about his results over the phone months ago.
It is exciting to think we may have found our answer, and it is exciting (though has its frustrations) that Kiran is one of only six in the world with a misspelling in this gene, RAB11B. I am hopeful further research studies will be done he can contribute to, and I am hopeful we can connect with some of the other families using Genome Connect.
Genetics is still a bit beyond my grasp of understanding, but the most important piece of information, for me, was the answer to my question: For a misspelling like Kiran has, when does the genetic code transfer? At what point in the process of pregnancy/development did this mutation occur?
Because his misspelling is evident in all of his cells (again, this is a bit beyond me, but this is how the doc said it), this would have happened at the very, VERY beginning. As in, it happened in the sperm or the egg (no way of knowing which) prior to conception.
I have heard, from many doctors, throughout the course of Kiran’s many diagnoses, that none of this is my fault. Nothing I did or didn’t do during pregnancy caused this or made Kiran the way he is. And it doesn’t matter that I have heard that, because I still carry the guilt and the what ifs with me.
But this finally absolves me of my guilt. If it happened at the very beginning, when the genetic code was transferred to either the sperm or the egg, no environmental influence altered the course of Kiran’s development. It was a random genetic misspelling. The doctor said the average person has around seven; it’s just that most of them are benign.
But for Kiran, in gene RAB11B, location 64, what should have been a G is an A. It’s a G in my genetic makeup; it’s a G in his dad’s genetic makeup. It was simply a fluke. A misspelling of ONE letter in ONE location…that apparently affected every cell. And, in the doctor’s words, compared with the other kids who have this candidate gene mutation, he has more “impressive” visual issues, and he really “leveled up” with the complex heart problems.
So maybe he did get some overachiever tendencies from me….