Heidi Maxfield is mother to a son with phenylketonuria (PKU) and sits on the Board of Directors at Intermountain PKU & Allied Disorders (IPAD). The following article was contributed to the PTC Newsroom to help spread awareness about PKU. Reach Heidi on Facebook or Instagram @maxfam.
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There are certain memories that are etched into my brain because they are of life-changing events. Our newborn child getting diagnosed with PKU is one of these.
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 bloodwork 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, and scared, and we mourned the loss of a 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 it’s a rare disease, there weren’t very many options. We met one family the next week. It was disheartening. Their 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 visit. 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 who can bring you hope. This hope was our lifeline.
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 Owen 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 isn’t as we pictured. Parenthood is a magical thing. When you have a baby with a rare disease, your capacity to love and fight for that child grows! 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 to the rare disease community: You may be rare, but YOU ARE NOT ALONE. Once you know that – go find someone else who needs to know it, too.