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 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.
Our daughter, Hattie, was 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 supporting the National PKU Alliance (NPKUA) to raise money for PKU research and to ultimately, find a cure. We need to raise funds to accelerate the science of PKU by funding the most promising peer reviewed research that will lead to new therapies and to ensure a life without extreme limitations.
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, behavioural problems and mood disorders. There is currently no cure available, only treatments to help manage the effects of PKU. We know today that those treatments are not good enough. That’s why most children with PKU live on roughly 7 grams of protein per day. To put that in perspective, that’s 2 slices of bacon.
We are hosting our wiffle ball tournament, Pitches for PKU, as a fundraiser for the National PKU Alliance with a goal of raising $5,000 and a great deal of awareness in our community. All funds raised will go to the NPKUA Fund and in support of a Gala in Philly to be held on April 27, 2019 to grow and strengthen the quality and quantity of PKU research to accelerate the development of new therapies and an eventual cure. To learn more about the Lifting the Limits for PKU – Philadelphia event go to https://npkua.org/News-Events/Lifting-the-Limits/Philadelphia-2019.
The National PKU Alliance’s mission is to improve the lives of individuals with PKU and pursue a cure. The NPKUA provides information and support to adults and families, advocates for the reimbursement of medical foods and invests in targeted and peer reviewed research for the development of new therapies and a future cure for PKU.
Proceeds will go to the National PKU Alliance (NPKUA), a 501(c)(3) nonprofit organization, Tax EIN: 26-2849140.
For more information about PKU and the incredible work done by The National PKU Alliance please visit www.npkua.org