We saw a genetic counselor while I was still pregnant, after the amniocentesis. This was done immediately following my level 2 ultrasound where they told us about the holoprosencephaly and other long list of issues they saw. She explained they were looking to see if he had a trisomy, most likely pointing to trisomy 13. They wanted to look at the genes to see if this was as bad (read: as fatal) as it appeared on the ultrasound. To let us know ‘what we were in for’, (and really, we found out later, to pressure us to abort).
We were actually told that Cayden was a girl from the early ultrasound, the one when we got the BAD NEWS, and I got a call about a week later telling me that my son did not have trisomy 13. I was quite confused, I was carrying a girl, wasn’t I? No, clearly, the male markers were there, she said, it’s a boy. (Later, we determined that this was due to the micropenis Cayden had, common in boys with center line issues, so his ultrascan read ‘girl’. More on that condition in another post… you’ll have to hold your questions.)
Instead of a trisomy, Cayden had a unique translocation. When his genes were scanned and interpreted (in 2003), his was the only case of this particular change. That was a bad thing for a geneticist, as they could not or would not predict what this meant for his prognosis. I thought it would be an interesting case study for them, but they kind of just wrote him off as a ‘one-of’ and didn’t really take an interest.
We were told that he had a piece missing from one of his 13th chromosomes, upon which an extra tail of CH1 was added. In technical language it was a partial trisomy 1, partial monosomy 13. Prenatally they were concerned (based upon his specific set of characteristics) that he had trisomy 13, which in itself, is very life threatening and most times fatal. Children with this trisomy often also have holoprosencephaly because this chromosome is so important in early fetal development. But his particulars were unique, so he was really a blank slate. They couldn’t tell us anything about what to watch for or prepare for, and similar cases were not common.
What caused this? we asked. Not sure, they said. But they could say that it was something that happened at the very moment of conception, as his chromosome half dad/half mom ‘zipper’ was zipping, his zipper caught a glitch. It skipped a few teeth, causing this translocation. They suggested that we have genetic testing done on us, to see if we carried the translocation or if it was de-novo (new in Cayden).
A similar scene was played out with Jesus and his disciples…
As he went along, he (Jesus) saw a man blind from birth. His disciples asked him, “Rabbi, who sinned, this man or his parents, that he was born blind?”
“Neither this man nor his parents sinned,” said Jesus, “but this happened so that the work of God might be displayed in his life.”
John 9:1-3, NIV
Neither of us carried the unique gene markers that Cayden had. This was good news for us, as it meant that further children would probably not have the challenges C did. Our genes were clean. But it meant that Cayden had a unique role to play… “so that the work of God might be displayed in his life.”
We never worried or asked further about the why? We didn’t get caught in the blame game. It didn’t matter anyway. This was how God made Cayden, we could not change how he was built. No amount of faith or prayer could tell me that his different tiny brain would miraculously be made ‘normal.’ No prayers for total healing were asked.
We instead turned to ask what now? Now, how can we care for him in a way that will extend his life, keep him healthy and out of pain? Those were our main contemplations in choosing care options for him. Maybe that is my lack of faith, in not asking for a miracle, but I asked for strength and grace in dealing with a handicapped child instead.
We loved Cayden just how he was made, trusting that God, in making him, did not make a mistake. Instead, we had faith that each of his individual chromosomes, and therefore his entire physical makeup were just where God wanted them to be.
More on his unique physical make up tomorrow!