There are certain memories that are etched into my brain because they were life-changing. Our newborn child getting diagnosed with PKU was one of them. It was 2007 and we were living in Louisville, Kentucky, while my husband was in dental school. Our first child, a baby boy, was 9 days old. Our pediatrician’s office called us and said there had been a flag on the newborn screen for PKU, but that most flags were just false positives. They encouraged us to head to the children’s hospital for further testing but also told us that in their whole 50 years of medical practice they had never seen a real positive, so we really had nothing to worry about. On that same day, we rushed to the hospital for blood work where PKU was confirmed. Our whole world was rocked. We had to learn how to take blood from our baby! We practiced on our grandma’s fingers to get the hang of it. We were devastated, scared and mourned for the future we had pictured for our son. Google wasn’t much help back in 2007 – most things we read were horror stories of severe neurological complications.
We asked our metabolic clinic for some references of people in the area that had PKU. Being a rare disease, there weren’t very many options. We met one family the next week. It was disheartening. The child wasn’t doing very well and the family support was lacking. Then, by some miracle, we found a family who lived just minutes from our home. They brought their healthy, 12-year-old son, Cameron, over to our home. He was polite, accomplished, and very fun. This family gave us HOPE. If you are reading this as a new parent with a rare diagnosis, find your hope. Find a family in a similar situation that can show you that it will all be ok. This hope was our lifeline as new parents wondering what our son’s future would look like.
Fast forward through the next several years. We got the hang of life with PKU. There were bumps along the road, and there still are. Life with PKU requires a strict low protein diet. It requires us to weigh all the food he eats. It requires understanding health insurance. At one point, it even forced us to take out student loans to pay for expensive medical formula and special low protein foods that were essential for our child. We participate in medical trials and research. We give regular blood tests. We have come to terms with a life that wasn’t as we pictured. It’s a magical thing, parenthood. You have a baby with a rare disease, and your capacity to love and fight for that child grows!
After some time, dedication, and hard work, you start to see your child grow and thrive and become everything you hoped they would be! Sure, it might be a little different than you may have imagined back before you loved someone with a rare disease, but it might be even better than what you imagined. You realize that everyone has something that is hard. Everyone has something they’re fighting for. Having PKU is just a small part of our child. Having PKU has taught our child flexibility, compassion, discipline, and optimism. Our whole family has benefited from learning these things alongside him.
There is one last thing we want you to know if you’re new in the rare disease community. Our rare disease has helped us to meet some of our best friends we would have never known otherwise! Like I said, if you want to find HOPE – find a family who knows what you’re going through. Stand beside them, learn from them, ask questions, and fight for a better future together. Take a trip together! We’ve traveled with some of these friends, met people from around the world together, and lobbied for change together. You may be rare, but YOU ARE NOT ALONE. Once you know that – go find someone else who needs to know it too. You’ll be so glad you did.