On August 27, 2017, we welcomed our first daughter, Hattie Mae, into the world and we could not have been more in love. A perfect little girl - ten fingers, ten toes - as far as we knew we had a healthy and happy baby that completed our family. When Hattie was 5 days old we received a call from our pediatrician telling us that her newborn screening test had come back with elevated levels for PKU and we needed to take her to The Children’s Hospital of Philadelphia immediately for further testing.
As overwhelming as it is to be a new parent bringing a baby home from the hospital, that angst becomes tenfold when you are told that your baby has been diagnosed with a rare genetic disorder that she will carry and cope with for her entire life.
Just fifteen months later on November 5, 2018 we were blessed with our second beautiful daughter, Maxine. There was a 25% chance that Maxine would also be born with PKU. Against the odds, at four days old we received the results of her newborn screening, positive for PKU.
Our daughters were born with a rare metabolic disease called Phenylketonuria (PKU). PKU is a rare, in-born error of metabolism that prevents affected individuals from properly metabolizing an essential amino acid called Phenylalanine. PKU requires a life of unimaginable dietary restrictions to ensure optimal health. We are partnering with the National PKU Alliance (NPKUA) to raise money for PKU research and to ultimately, find a cure.
Without prohibitively expensive medical food, special formula, and constant monitoring with blood tests, children with PKU can develop mental challenges in a short period of time. Because it is a very rare disease – there are only 16,455 people with PKU in the US today – the burden of funding therapies and finding a cure falls on those families and individuals who are personally affected by this disease. If left untreated, PKU will cause phenylalanine to build up to toxic levels in the brain, and lead to intellectual disabilities, seizures, behavioral problems and mood disorders. There is currently no cure available, only treatments to help manage the effects of PKU. While our daughters are truly blessed, and with constant monitoring of their diets and blood levels, they are thriving; however, we know today that those treatments are not good enough.
We are hosting our 2nd Annual Wiffleball Tournament, Pitches for PKU, on Saturday, September 7, 2019. Our goal is to raise $10,000 and a great deal of awareness in our community. All funds raised will go to the National PKU Alliance's NPKUA Fund to grow and strengthen the quality and quantity of PKU research to accelerate the development of new therapies and an eventual cure.
Please join us or support with a donation!
Joe, Cassie, Hattie & Maxine