PKU Awareness Month

We learned of Ryan's PKU diagnosis as a result of his newborn screening. We've come a long way since the evening we received the phone call however, I remember it like it was yesterday. The phone ringing, an unfamiliar voice on the opposite end and the brief explanation of PKU. Calling Matt, who had just left on a quick errand, in a state of panic and telling him needs to come home. Being told we must immediately bring our one week old newborn to the emergency room for blood work and watching as they attempted and failed to draw blood from his tiny hands. Breaking down and refusing the request to try a blood draw from a vein on the top of his perfect head. Listening to his cries and watching him fall asleep from pure exhaustion as they literally squeezed blood out of his little heel, drop by drop, which seemed to take a lifetime. When we learned Ryan had PKU our world was turned upside down. We were overwhelmed with fear, anxiety and the unknown. Like most who are diagnosed with a condition they are unfamiliar with, we had so many questions and concerns and had to educate ourselves on what exactly PKU was.


Matt and I are total opposites. He, for the most part, is calm, cool and collected. "Don't worry, it will be okay." Myself on the other hand, would obsess over it. I lost sleep and started exhibiting signs of anxiety. Add to the mix having just given birth to twins and being a first time mom, it was no surprise I had to go on anti-anxiety medications. I can recall lying in bed at night and thinking about the future. My son was a few weeks old and I was worried about high school and college. Parties and family outings. How were we going to handle this? Not to downplay the fact our son has a metabolic condition but we know there are other diseases and conditions which are far more devastating. PKU is not life threatening and when the proper diet is followed, it is manageable and those with PKU lead a normal, healthy life.


Fast forward almost 4 years later and the fear and anxiety have dwindled away. Don't get me wrong. My mind still wonders to "What's Ryan going to do when...?" and we always have to be one step ahead. We have to be aware of what food options are available for Ryan when we go out to a party or to a restaurant. Sometimes when he is having an "off" day we can't help but be concerned maybe his phenylalanine levels are elevated. Ryan's form of PKU, called mild hyperphe, allows him to be on a more relaxed diet. Every case of PKU is different. Ryan is now allowed to eat most regular foods with the exception of the very high proteins including chicken, meat, fish, etc. He now goes for bloodwork every 3 months as opposed to monthly. Some of the things we worried about when he was first diagnosed are no longer concerns. The fact we don't have calculate PHE and his levels have been consistent has made a huge difference for all of us.

It has been 60 years since the first young child was treated for PKU. The PKU community is blessed with all the advances and research in the treatment for PKU. For some, it is still a constant battle with insurance companies to cover the financial cost of low protein foods and metabolic formulas. There are regular meetings with government representatives to help gain support of the Medical Foods Equity Act, which is currently in the House and Senate. If passed as law, all insurance companies in the country would be required to cover the cost of medical foods associated with treatment of all inborn errors of metabolism. There are no words to describe how huge this would be for the PKU community.

AWARENESS is KNOWLEDGE