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. 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. That’s why many children with PKU eat roughly 7 grams of protein per day. To put that in perspective, that’s 2 slices of bacon.
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
Please join us or support with a donation!
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