Public Health
PAFP staff member’s personal story puts spotlight on Rare Disease Day During last year’s Annual Business Meeting, one particular PAFP staffer was the topic of discussion among many attendees: 9-month-pregnant Lindsey Killian, the PAFP’s Director of Education. Lindsey managed to make it through the weekend conference without delivery, but two weeks and five days later, Lindsey would receive news that no new mother wants to hear. Five days after giving birth to her son, Thomas James “T.J.,” Lindsey received a phone call from a physician saying her son has a rare disease and needed to be seen in clinic that same night. During T.J.’s newborn blood screening, he tested positive for Phenylketonuria (commonly known as PKU) with an elevated Phe level of 4.4. Lindsey’s husband has PKU, and the couple knew Lindsey was a carrier for PKU. With the overwhelming joy of a new baby, the couple forgot about the probability of their son having PKU. The new family was forced to face the transition from probability to reality. According to the National PKU Alliance, Phenylketonuria (PKU) is a rare, inherited metabolic disorder characterized by the body’s inability to utilize the essential amino acid, phenylalanine (Phe). PKU is caused by a deficiency in the liver to produce the enzyme phenylalanine hydroxylase (PAH). The PAH enzyme converts Phe to the amino acid, tyrosine. Without the PAH enzyme, Phe accumulates in the blood and body tissues. Excess Phe is toxic to the central
nervous system and causes severe problems when left untreated. An estimated 16,500 individuals are living in the United States with PKU. While there is no cure for PKU, there are some pharmacological treatments and lifestyles to help manage the disorder. Wednesday, Feb. 28, 2018 will mark the 11th year of Rare Disease Day, a global initiative to raise awareness of more than 6,000 rare diseases. Rare diseases impact nearly 1 in 20 individuals during their lifetime. While the majority of the diseases have no cure, it is important to raise awareness and continue research for individuals living with a rare disease.
Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet.
16 | Keystone Physician | Spring 2018