Buffalo Mom to bring National Fundraising Event to Statler City to raise awareness and research funds to PKU – A Rare Disease
A mother from Cheektowaga, NY has partnered with a national organization, to host their branded ‘Lifting the Limits for PKU ’ event in Buffalo New York, with hopes to raise $100,000 for the National PKU Alliance – the first national non-profit organization to unite all those involved in the PKU community.
Staci Stincelli-Kasprzyk along with her husband Eddi Kasprzyk of Cheektowaga New York, noticed the lack of information, support and resources available to them when their daughter Norah was born with PKY and decided to organize this event in Buffalo.
Stincelli-Kasprzyk, who sought out NPKUA to bring this monumental event to Buffalo, said: “Shortly after the birth of our precious daughter, Norah, we received the news that she has a rare metabolic disease called PKU. Without unimaginable dietary restrictions, she would be become developmentally, intellectually and neurologically disabled in less than two years.”
Phenylketonuria, or PKU, is an inherited disorder affecting about 1 in 10,000 infants born in the United States. A person with the disorder lacks the liver enzyme needed to process phenylalanine, a common part of most food, and it builds to toxic levels in their central nervous system, particularly the brain. Prior to the first newborn screening programs of the 1960s which looked for PKU, untreated children suffered mental retardation. Early detection and treatment now spare families from the worst of PKU’s consequences but living with the disorder requires constant vigilance and monitoring. A lifelong low-protein diet and dietary medical supplemental foods is the established treatment for PKU but it can be difficult to sustain into adulthood.
Stincelli-Kasprzyk said, “We have learned that diet is not enough to prevent changes in the brain composition and function, even in treated individuals like Norah. We hope you will join us in our mission, as we strive to brighten futures and ‘lift the limits’ for Norah.”
The average container of PKU formula costs $40. A teenage boy with PKU can consume a full can every day, costing $15,000/year in medical formula alone. The PKU diet is extremely difficult to maintain. The reality is that well over half of the adult PKU population is struggling with side effects.
Christine Brown, Executive Director of NPKUA said, “Funding the most promising peer-reviewed research that will lead to new therapy discoveries and a cure is our goal with holding these events.”
Previous cities hosting Lifting the Limits events included Nashville, TN, Boston, MA, and Seattle, WA.
The overall funding strategy of the NPKUA is to support projects that will promote advances in the treatment and management of PKU, with the long term goal of facilitating the development of a cure.
If you wish to sponsor or make a donation Lifting the Limits for PKU: Buffalo, NY visit https://npkua.org/News-Events/Lifting-the-Limits/Buffalo-2017 or https://www.facebook.com/events/151112321984889/ or email Staci at firstname.lastname@example.org or call at 716-725-3212
For more information: Shannon Lach, PEAR : Shannon@pearplanning.com 716-512-9166.