I met with a geneticist yesterday. After getting Mabel’s autopsy report, I still had some lingering concerns. I loved my daughter so much and it pains me that she had to have once ounce of suffering. I don’t want her siblings to have to face the same battles. Knowing what I know now, if there is anything I can do to prevent or prepare, sign me up.
The geneticist is an older man with kind eyes and a gentle voice. We met with him once during pregnancy to give us some insights on what to expect in pregnancy and beyond with a baby with Down Syndrome. He told us many reassuring and many scary things in a soft voice. I liked him.
He had reviewed the autopsy with the pathologist and they had done all sorts of research. Mabel had cystic dysplasia in her hypoplastic kidneys. These defects, though uncommon, are seen at a higher rate in the Down Syndrome population than the average population. He was saying that Down Syndrome is the likely explanation. If this was seen in a child without Down Syndrome, there could be a small concern that there is a possibly hereditary condition- mulitcystic kidney disease. If that were the case there would be a 5-10% chance of either a parent (me and Chris) or a sibling (Mabel’s future brothers and sisters) would have the condition. That said, even if that were the case, it would be extremely rare to have a case as severe as Mabel’s. This is not the likely scenario, but if Chris and I decide we want even more reassurance we can each have our kidneys ultrasounded to ensure we don’t have multicystic kidneys. My general impression is that he thought it wasn’t necessary but it was an easy reassurance to get if we wanted.
I don’t know whether we’ll decide to further testing or not. I left the meeting feeling comfortable that Mabel’s life-limiting issues were related to the Down Syndrome, which was a random event. It really hit home that what Mabel had and what we experienced as a family, was like being struck by lightening. Literally. I already calculated that the chance of me having a baby with Down Sydrome with a kidney problem is 1/100,000. The risk of that kidney defect being fatal? Extremely rare- no numbers available. The chance of being struck by lightening in the US in a year is 1/500,000. I think it’s safe to say I have a better chance of being struck than this happening again.
This doesn’t mean that I can see worry-free pregnancies in my future. This experience has taught me that nothing is certain. I’ve lost that sense of security. I’m ok with that, a little sad, but ok. I accept it. I want others to understand it. If you got struck by lightening, wouldn’t you be scared of thunderstorms?
Oh and as I was leaving, I told the geneticist to say hello and thank someone in his department that was kind to me in pregnancy. He said “you know she’s pregnant?” I did not know. It’s wonderful for her. I thought about how hard it must be to be pregnant while working with pregnant women and all sorts of difficult news regarding genetics. When he said that, I thought both how wonderful and how hard. I also thought that I wish he kept that news to himself. I didn’t need to know.