PKU, the Birth of Newborn Screening, and one Family’s Story

By Michelle M. Forman, Senior Specialist, Media, APHL

Every year in the United States public health laboratories test over 97% of the four million babies born for genetic and inherited disorders.  Approximately 5,000 babies are identified with a genetic or congenital condition annually in the US.  Who are those babies?  Who are those families?  What are those disorders?

One Family’s PKU Story from Michelle Forman (APHL) on Vimeo.

John Adams, president and CEO of Canadian PKU and Allied Disorders, came to speak with our staff.  His son, now 24 years old, was diagnosed with PKU (Phenylketonuria) thanks to routine newborn screening.  In his 24 years of being a PKU parent, John has become an expert on the disease.

A little background: PKU is a genetic disorder of the metabolic system caused by a deficiency of one of the thousands of enzymes in the human liver (phenylalanine hydroxylase (PAH)).  This enzyme is required for the breakdown of phenylalanine (Phe) and its conversion into Tyrosine, a precursor to some neurotransmitters.  Phe is an essential amino acid not made by the human body that is found in most foods that contain protein. In untreated PKU, Phe accumulates to abnormally high levels in the blood, tissues and organs and crosses the blood-brain barrier. Elevated Phe levels and/or its metabolic consequences are toxic to the brain, central and peripheral nervous systems.

If untreated, PKU causes severe irreversible mental retardation.

After discovery of the disease and extensive research, the first PKU patient was successfully treated in 1951. By strictly following a special diet, PKU can be treated but not cured.  Patients may never have regular milk, cheese, eggs, meat, fish and other high protein foods and nothing that has aspartame (an artificial sweetener commonly found in diet drinks and other foods).  As of 2007, there is also an FDA approved drug that is effective for some people living with PKU.

In 1958, Dr. Robert Guthrie developed the bloodspot card and test for PKU; eight years later this test became the standard in the United States.  This was the first newborn screening test.

This summer I’m going to be a mom for the first time.  The thought of having a baby with any kind of disability that could make its life more complicated scares me like it must scare all parents.  Working for APHL, I spend a lot of time reading and writing about newborn screening – I clearly understand its value to the public’s health.  What John Adams’ presentation made me realize is that newborn screening could save MY baby.  Suddenly this issue is as much about me as it is about every other parent and baby in the country.  I can sleep better at night knowing that as soon as my baby comes into this world, its heel will be pricked and its specimen card will be sent to the public health laboratory in my state.  If there is anything wrong, I’ll know.

I can only imagine how terrifying those first days, weeks, and months were for John and his family as they were forced to learn about PKU as quickly as possible.  Now, thanks to newborn screening, they can proudly say that their son graduated from college and has a full, normal life ahead of him.