By Kirsten, PKU, United States, March 1, 2018
Today the world and our family honors and recognizes Rare Disease Day. October 26 2017 our world and Aidan’s life changed. Our pediatrician called and said “there were abnormal results on Aidan’s newborn screen, 99% of the time these are false positives but we take prompt follow through.” Within 3 hours we had our 1 week old son getting further blood draws and meeting with what would become our genetics team. The following day our worries and fears were confirmed, Aidan was diagnosed with Phenylketonuria. PKU, for short, is a very rare, inherited metabolic disease in which the body lacks the enzyme PAH needed to convert phenylalanine, an amino acid found in all major protein, to tyrosine. High levels of “phe” are toxic and damaging to the brain if left untreated. There is no cure and treatment is in the form of weekly blood draws, daily medication, and/or restricted diet and special “phe-free” food. Unbeknownst to us, Dan and I are both carriers of this mutated gene meaning as an autosomal recessive disease there is a 25% chance of every subsequent child having PKU (as a side note PKU is not tested on the standard maternal genetic screening). We will never forget the emotions, worries, fears, and unknowns we felt in those first few weeks, even now 4 months later they can still be pretty raw at times and I’m pretty sure we went through all the stages of grief. As a NICU nurse I know there are worse but for us, in this moment, this was the worst. We had just brought home our beautiful newborn son, our miracle after nearly 2 years of infertility treatment. Would Aidan have cognitive delays, behavioral issues, seizures? How do we explain it to him and him to his peers one day? And so many “why us?” questions, how do 2 random people who meet and fall in love both carry this bad gene? Perhaps it’s fate in the most spiritual sense and God has a whole meaning and plan for us to advocate for Aidan and members of the PKU and rare disease communities. As for now we are fortunate that Aidan’s phe levels remain low, he’s developing appropriately, and of course as cute as can be!