ARPKD

Both Bentley and Marseille have a rare recessive genetic disorder called Polycycstic Kidney Disease. What this means is that Danny and I both carry a recessive gene that caused them to have this disease.

This is one of the best images to explain the recessive gene. Image from: Wikipedia

There is no cure for the disease. Both Bentley and Marseille are followed by a nephrologist, an endocrinologist and a gastroenterologist. The Dr.s are monitoring for kidney and liver failure. Most children with this disease have kidney failure before they are teenagers. Which means they will have a kidney and possibly a liver transplant.

Right now, Bentley and Marseille are stable. They have high blood pressure and are on medication for it. This is result of their organs not functioning properly.  They are both on thyroid medication because they produce too much thyroid stimulating hormone. They will be starting growth hormone treatments soon. Bentley is also on a medication for his pH balance.

Developmentally, they are the same as other children. The only apparent difference is their size. We are hoping that the growth hormone will help with that!!

Want to learn more?
PKD Foundation
ARPKD/CHF Alliance