Darin & Sharon’s Story
In February 2015, my wife gave birth to a beautiful baby girl. She was our fifth child, and like her four older brothers, she appeared normal in every way. One week after she was born, I got home from work, and my wife told me a nurse from the Community Health Clinic (CHC) had called and said our little girl’s PKU levels were not normal. The nurse said they have an appointment for her the next morning at 8:30, and we need to be there.
Before this, we had heard of the CHC and also of PKU, but were not sure what the clinic did, or what PKU was. I remember calling the nurse and asking how long this appointment would be. She said it would take two to three hours and we both needed to be there as there would be a lot of information to take home.
The next morning, we met Dr. Z and she explained what was wrong with our baby girl. She explained how everyone has genes they get from their parents and pass on to their children. When a father and mother both pass on a defective gene, you have a baby with a genetic disorder. In our case, PKU.
The nurse took more blood and urine samples to confirm the initial diagnosis. We met with the clinic dietitian, and she explained how our baby needed to be on a special diet for life. She said our little girl must never eat any meat, eggs, dairy products or nuts as they are high in protein.
The dietitian also explained how to mix a special formula that our girl had to take every day for life. The dietitian helped my wife see the importance of our baby’s diet and has helped my wife find low-protein food and recipes.
The nurse showed us that day how to collect blood samples at home. These samples are sent to a lab in Indianapolis to monitor our girl’s PKU levels. We had to do this twice a week for two months and then once a week for two years. Currently, we do this every two weeks.
Our little girl is now six years old. She looks normal and is healthy. Dr. Z has shown us a picture from back in the ’50s of a boy and girl that have PKU. The boy is maybe ten or twelve years old, and you can see he was not treated as a baby. The girl is five or six, and you can see she was treated as a baby. I like to think that’s our little girl looking normal and healthy.
One and a half years ago, we had another baby girl. Before she was born, we wondered if she would also have PKU. The clinic gave us supplies for a special test to be done at birth and sent to a lab for testing. Two days later, a nurse at the clinic called and said they had the results. We called the clinic, and the nurse said our baby is not even a carrier for PKU. We are thankful to have the clinic so close to home so we don’t have to drive to Indianapolis.