So today at work, I was chatting with a woman buying small pieces of a bunch of fabrics, which usually means she’s making a quilt. When I asked, she told me that her daughter is expecting a girl but doesn’t like pink which explained why she was buying peachy, orange-y fabric.
Then, because of Juliette and the impending arrival of Luella, I had to talk about that.
The woman said this was her daughter’s second baby, but that the first one was born at 30 weeks and only lived 30 minutes.
I said Juliette was born at 31 weeks, and the woman said, stumbling over the words, “It was Polycystic Kidney Disease.”
I looked up from the fabric I was cutting, stunned to hear those words! I don’t know that i’ve ever heard anyone not related to me who wasn’t a doctor or nurse say them.
Of course we talked a lot and it turns out no one in this woman’s family has PKD and they were all tested when it was discovered that the baby had it. There is a form of PKD called Autosomal recessive PKD which can be diagnosed through a fetal ultrasound.
ARPKD can cause problems with the amniotic fluid which in turn causes other things such as underdeveloped lungs which is what this baby actually died from.
Just to be clear, this is not the PKD that is in our family. We have ADPKD. ADPKD is caused by mutations in the PKD1 and PKD2 genes. It has a dominant pattern of inheritance which means that you only need an abnormal gene from one parent to cause ADPKD, even though the matching gene from the other parent is normal. The abnormal gene dominates.
I had never heard anyone outside my family talk about PKD like this, and part of me wanted to get this woman’s name and email, but I thought that might be odd.
Still, it felt like I’d met a distant relative i never knew about before. I pray the next baby is healthy.