A Dad's Perspective: The Diagnosis
Hi everyone! This one was written by my dad! As someone with PKU, I can only speak from my perspective, but here's a post for new parents and for people with PKU and other rare diseases to hear what their parents had to go through! Enjoy!
"As a father, if you are fortunate enough to be in the delivery room when your child is born, all you’re hoping for as this fleshy bundle is coming out, is that it has two arms and legs and good lungs. Once its out and in your arms, you take inventory to see that everything appears to be normal and working.
Once you’re home and start getting into the routine of having a baby, you then check to see that all systems seem to be working: She eats, poops, laughs, cries, and practically sleeps through the night after a week! She even looks a little bit like Dad. She’s perfect.
We received a phone call before she was two weeks old informing us that one of they tests they did at the hospital was a little out of whack, and that they’d like for us to come in for a retest. It sounded pretty routine, so we bundled her up and headed to Children’s hospital.
Once at the hospital, we were immediately marched into a room with a friendly looking doctor. He proceeded to tell us (nicely) that a blood test indicated that our daughter had a genetic metabolic disease called Phenylketonuria, and that we would be staying in the hospital for the next two weeks to learn how to manage it. Say what!?!
That’s impossible. She’s perfect. There’s no history of this in either of our families. There must be some mistake. I thought we were here to do a retest?
The doctor assured us that the test was clear. Our daughter has PKU and would be on a strict diet for the rest of her life or risk negatively affecting her brain. My wife started to quietly cry. I looked the doctor in the eye and said…OK, what do we have to do?
We spent two weeks learning about PKU, and especially how to manage the diet. We met with dieticians, social workers and various specialists, all while our daughter was undergoing a barrage of tests. The medical community was still learning about this disease (they still are) and every case was an opportunity to learn more.
We had to weigh or measure everything our girl ate. We had a book that told us how much Phenylalanine (Phe) was in each food type, and we had to calculate how many Phes per meal she could have and how much to have per day. We also had to keep a record of all her meals.
Her daily tolerance was diagnosed over several days at the hospital, so we knew how many Phes per day she should have. We were figuring out diet plans for her as an infant, as well as mock plans for her as a teenager. It was more than a little overwhelming. We thought we were done with this kind of high school math!
Throughout the whole process, in the back or our minds was the need for reassurance. Ok…this is a lot of work, but is it really worth it…is it effective and will our daughter reach her full potential? How would we know?
I asked some of the staff if it would be possible for us to meet an older kid with the same ‘disease’. They are protective of everyone’s privacy of course, but they said they would ask. As it turns out, another PKU patient came in while we were still at the hospital, and the parents were willing to meet us and let us meet their son. The Dad was not the most dynamic guy in the world, but I was more interested in the kid. He was nine or ten years old. He still had two arms and legs and all the rest of his parts. He answered my questions and seemed like a normal kid. Outside of his diet, he didn’t seem inhibited or abnormal in any way. Meeting this kid really meant a lot to us.
OK…we got this."