About Grace's Disease

I will be doing a separate post about what it was like to learn that our daughter had a fatal disease, but I wanted to talk a little bit about the disease, who it affects, and why it's fatal.

When we went in for Grace's 21 week anatomy scan, the ultrasound technician told us that her kidneys were huge and full of cysts (which look like black dots on the screen). She had no amniotic fluid around her (which is what makes the background of an ultrasound black), and she was curled up so tightly because of the lack of fluid that they couldn't see her feet.

Grace was diagnosed with a disease called Multicystic Dysplastic Kidney Disease. In her case, it affected both of her kidneys, meaning it was bilateral (instead of affecting just one kidney, which is called unilateral and is more survivable).

Essentially, amniotic fluid is urine that babies swallow and then urinate back out. In MDK,  something, perhaps a blocked bladder duct, backs the amniotic fluid into the kidneys, and they become enlarged and full of cysts. There is no way to fix it. Without amniotic fluid the baby's lungs will not develop. It's 100% fatal in cases like ours, where it hits both kidneys and so early before any lung development can happen (which occurs in the third trimester.)

The specialist that we saw next confirmed my OB's diagnosis, and explained it in even more detail. They found Grace's feet, but she was curled up so tightly because of the lack of amniotic fluid, there was a decent chance she'd be stillborn, or suffer from Potter's Sequence. The bottom line was that she would be possibly ok until birth due to her placenta, but upon birth "the wheels would immediately come off." Without her placenta to support her, Grace would need her lungs. And because her lungs would not be developed without amniotic fluid, and she'd need to immediately go onto life support. Her kidneys were already 100% non-functioning and she'd need a transplant. Babies need to be around 22 lb to receive a transplant, and no baby yet has made it to that weight without working lungs/in a NICU, according to our doctors.

MDK is hard to track in terms of how often it affects babies, however, I have heard it hits the way it did Grace (bilaterally, early) around 1/10,000. My friend Jessica Costanza's son suffered from the same disease and she writes about it and her family's heartbreaking decision here.

I share all of this to make it clear that:

  1. Grace absolutely, 100% would not have survived long term. The pathology report after her termination confirmed this, which was both heartbreaking and a small relief that we'd made the right choice, in our opinions, for her. If we were going to potentially have to remove her from life support shortly after birth anyway, we felt strongly we wanted to do that in pregnancy before she suffered needlessly at full term, with a more developed nervous system.
  2. This happens far more often than anyone might think. It will happen again to families, and because it might have genetic ties, could even happen to us again if we continue trying to have a child. We need to have legal rights to work around cases like these.