US Government Refuses to Cover PKU, the Fight Wages On

There’s a serious, rising issue brewing over health care coverage for Phenylketonuria (PKU) and it’s a steaming pile of outrage.

If you haven’t heard of this rare disease, here’s the scoop. It’s an inborn glitch in metabolism that decreases metabolism of the amino acid known as phenylalanine (phe). If not treated properly, PKU could lead to intellectual disability, seizures, behavioral problems and mental disorders, even into adulthood. Other symptoms include a musty smell and lighter skin. Additionally, the offspring of untreated mothers can have microcephaly, congenital heart defects and developmental delays. To learn more about this disease, click here.

People with phenylketonuria need a special medical food that allows their body(ies) to develop normally because of their strict dietary restrictions against phe found in animal products, meat and dairy. Medical food provides patients the amino acids they need without the detrimental phe. And today, insurance providers and certain members of the US Office of Personal Management (OPM) are making life a living hell for these victims by not covering the formula and other medical foods, the cornerstones of PKU treatment.

Phil James, a doctor who works at the Division of Genetics and Metabolism at Phoenix Children’s Hospital spent hours trying to get insurance coverage for his patients with PKU. There’s a long-winded process of special tests required to pinpoint what kind of PKU the patients have.

“It’s not just in formula, it’s also in getting authorization for genetic tests and imaging tests and to get other kinds of medications for our patients,” James said.

Margaret Delaney, mother of Connor who suffers from Phenylketonuria, writes several letters to federal health officials to change the overly tedious coverage requirements and hasn’t received much of a response. She has thus gone on to appeal to the U.S. Department of Labor.

“That’s my fight now and I will continue it,” Margaret said of the insurance coverage.

Meanwhile, in Topeka Kansas, a family is sparring with Cigna after the insurance company refused to cover their son Jackson’s life changing formula. Cigna was charged $990 per month by the Home Health Agency to cover the formula. Most states offer lifelong coverage for kids with PKU with the exception of 12, and Kansas is one of those. To learn more about states’ stances on medical foods, click here.

If Jackson doesn’t take this formula, his IQ level will drop, he’ll develop mental disorders, along with a heap of other complications.

Then there’s the issue of age discrimination. Jennifer Payne a lifelong Marylander and was one of the first people identified with PKU in infancy. She has grown up healthy and productive, and now is an out-spoken advocate against this issue. In a state with model laws, and as a Federal employee, she herself suffers from lack of coverage for the necessary medical food.

With a Master’s in Public Policy, a Doctor of Pharmacy Degree, her career as both a healthcare provider and a pharmacist working for the Veteran’s Administration, she has been spared mental retardation but is now at risk as her PHE levels rise. The VA and in turn, Jennifer Payne, is dispensing medical foods, yet she cannot get them for herself. She is at the front lines of this issue, in an effort to sustain herself as a high functioning, contributing citizen and mother of three.

In an email asking for help, Jennifer’s battle cry stated:

“As one in 400K of federal employees in Veterans Health Administration, I am living with PKU, and need reinforcements in fighting the nation’s largest employer sponsored health insurance program – a $50 billion Federal Employees Health Benefits (FEHB) program – serving 8.2 million members, but excluding PKU adults meaningful coverage because of age.

To Jennifer, her Blue Cross Blue Shield carrier to the Federal plan basically says: We don’t care about you after the age of 22, even though you are still at risk of getting phe lodged in your brain and becoming mentally ill. As she puts it:


You’d think that something so vital to the lives of people suffering from a rare disease would be given more attention, especially since one of the country’s most successful preventative public health policies, Newborn Screening, was developed because of PKU.

But as are the injustices in our government, problems that go unheard of and unsung. It’s up to people like Jennifer and other PKU’ers to rally together and make a change. The only way to make that change in this country is by using our constitutional right to scream, so let’s make some noise.

Source: Giphy

“we have saved countless lives since 1963 PKU newborn SCreenings, so how can we condemn adults with PKU to a life of mental health problems?” -Jennifer Payne, Mph, PKU Patient, advocate

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