Maternal PKU

Every little girl plays with baby dolls. They have dreams of growing up and becoming a mommy. Some women have very strong maternal instincts, they want and feel like they should have children. Women with PKU have to look at pregnancy and having children differently.When a woman wants a baby they make the decision and starts trying. It's different for a woman with PKU. There is a lot of planning that goes into it.

First, the woman with PKU decides she wants a baby. The man she wants to have the baby with (hopefully her husband) needs to have a DNA analysis done. She needs to find out if he is a carrier of the mutated gene that causes PKU. If he is then there is a 25% chance that they will have a baby with PKU. If not, then the baby will be a carrier.

Second, she needs to see her PKU nutritionist and dietitian. She needs to go back on their low protein diet or go on a stricter diet. The woman has to keep the Phe (or protein in the blood and brain) from 2 to 6 mg/dl (milligrams per deciliter). If the woman is not on her diet at all, it takes about 2 months on the diet to get the protein levels down to the healthy levels. If she is on her diet, she needs to get use to her stricter diet. I am guessing that could take anywhere from a week to 2 months, but it's different for every person.

Next, she has to get pregnant and schedule appointments. Unlike normal women, she will have to make an appointment with an OBGYN, a nutritionist, and a dietitian. Usually they have to go see all those doctors more frequently than the normal pregnant woman visits her OBGYN.

Finally, the woman with PKU has to stay in the hospital longer than the average woman after the baby is born. The baby needs to be monitored closely and longer than the normal newborn because some of the side effects the baby could have if the low protein diet wasn't followed as close as it should be.

If a woman with PKU doesn't follow the low protein diet the baby could suffer greatly. The baby could be mentally challenged due to raw protein in the baby's body while the brain is developing. The protein kills the brain cells as fast as they are developing. The baby could also have frequent seizures due to protein killing brain cells in a certain part of the brain, only. The baby could, also, have heart problems and/or body deformities.

Until recent years, doctors didn't even think it was possible for a PKU patient to have a healthy baby or carry a baby full term. They only started saying otherwise in the early to mid 90's.

As you can tell, it's not the same for women with PKU to have healthy babies. I always think it would be nice for doctors and scientists to find a cure for PKU so that we wouldn't have to worry so much about it. Maybe in the near future they will.

Until next time,
Phe