Cheektowaga family fighting to cure PKU

CHEEKTOWAGA, N.Y. (WIVB) – Most of us put very little thought into the food we eat, but one local family has to think about every bite their little girl takes. A lot of foods could leave her with brain damage.

Two-year-old Norah Kasprzyk has a rare metabolic disorder called Phenylketonuria, which means she doesn’t have the liver enzyme needed to process phenylalanine, an amino acid found in protein. Phenylalanine can build to toxic levels in the central nervous systems of people with PKU, leading to mental retardation and other disorders.

Norah Kasprzyk was diagnosed with PKU when she was just days old after the results of the standard heel prick test every newborn gets came back abnormal. Norah was the only baby born with PKU in Western New York in 2014, her mother, Staci, told News 4.

PKU affects about 1 in 10,000 infants born in the United States, and can only be managed through an extremely strict diet and frequent blood tests. “She’s on seven grams of proteins for the day,” Staci Kazprzyk explained. “You have to pre-plan your entire day of eating.”

MORE | Click here to learn more about how you can help find a cure and raise awareness about PKU

Maintaining the low-protein diet is extremely difficult. Phenylalanine is in everything from meat to eggs to nuts to dairy; it’s in all food made with the sugar substitute aspartame; even a lot of vegetables and grains have too much protein for Norah to safely eat.

The family has to specially order a lot food for Norah and it’s very expensive. “The pasta that you and I would eat is a dollar a box at the super market, whereas we have to order her pasta, and it’s $14 or $15 a pound,” Norah’s dad, Eddie, said.

That’s nothing compared to the cost of the special PKU formula Norah has to drink every day. It’s a version of protein without phenylalanine in it and it costs $40/can.

“It’s something she’s going to be on for the rest of her life,” Eddie Kasprzyk pointed out.

Unfortunately, PKU is so rare, insurance doesn’t cover a lot of the food and formula needs, which is something the Kasprzyk family is asking lawmakers to change. They’re heading to D.C. in May to try to get support for the Medical Nutrition Equity Act, which would require the insurance companies to cover the formula.

But, their ultimate goal is for Norah not to need the formula anymore. They want a cure for PKU.

“One of my dreams is just to take Norah and get ice cream with her,” Eddie Kasprzyk said. “Just be able to enjoy a slice of pizza. Just to be a kid.”

“And be able to eat what everyone eats, be able to go to a birthday party and have cake like everybody else does. Just for her to live a normal life,” Staci Kasprzyk added.

That’s why Eddie and Staci are co-chairing the Lifting the Limits for PKU gala fundraiser at the Statler on April 29 as they work to collect money to fund critical research that will hopefully one day find a cure for PKU.

“The National PKU Alliance has different research projects that they’re working on currently. Where our money is going currently is stem cell research so we can see if that can possibly help,” Staci Kasprzyk explained.

MORE | Click here to buy tickets to the gala or make a donation

You can learn more about the event on Facebook, on the National PKU Alliance website, or by contacting Staci and Eddie Kasprzyk by phone at 716.725.3212 or by email ltlbuffalo2017@gmail.com

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