Families buck up after rare diagnosis

Sarah Shillcutt of Jacksonville was just 10 days old when she was diagnosed with a rare genetic disorder that can cause mental retardation and seizures unless treated with a strict, low-protein medical diet.

Now 13, she opts for a simple explanation when people ask about her unusual eating habits.

“I tell them it’s a food allergy,” Sarah said. “It’s just easier to say that.”

But it’s very different from a food allergy. Sarah has phenylketonuria – pronounced fenl-kee-toh-NOOR-ee-uh – also known as PKU.

It’s a disorder in which the body can’t fully break down an essential amino acid called phenylalanine, found in protein in most foods including meat, poultry, fish and dairy products.

For those with the disorder, phenylalanine builds up in the body and becomes a toxin that can damage the brain unless a special diet is followed.

About one in every 14,000 babies is diagnosed with the disorder, according to the National PKU Alliance.

It’s just one of nearly 7,000 rare diseases affecting nearly 30 million Americans, according to the National Institutes of Health. A disease is considered rare if it affects fewer than 200,000 people in the United States.

While each disease affects a relatively small number of people, rare diseases as a whole have far-reaching impact, said Mary Dunkle, vice president of communications for the National Organization for Rare Disorders.

“When you think of them all together, it’s a lot. It’s basically one in 10 people in the United States, an additional 30 million people in Europe and many more around the world,” she said.

Families coping with such diseases often face similar challenges, Dunkle said. Those may include trouble finding specialists knowledgeable about their particular diseases, limited – if any – treatment options, and resistance from health-insurance programs to cover those treatments.

They face high medical costs throughout their lives, and in many cases find there’s no current research into their disorders, eliminating hope for new treatments or cures, she said.

Getting a rare-disease diagnosis is usually a major shock, and families search for answers, Dunkle said.

“A lot of times people call us right after they get a diagnosis. They’re still reeling from the fact that they’ve been told they have this disease that they don’t know how to pronounce the name, they’ve never heard of it before, and nobody in their family knows what they’re talking about,” she said.

“A lot of times with rare diseases, patients and family members really have to become knowledgeable about the disease, and they have to become advocates for themselves or for their loved one if they’re able.”


Dr. Robert Guthrie of Buffalo, N.Y., first developed the current phenylketonuria screening test in the early 1960s. Guthrie, who was born about 88 miles northeast of Bentonville in Marionville, Mo., had a son who was mentally retarded and a niece who was diagnosed with phenylketonuria when she was 13 months old.

All states and U.S. territories now screen newborns for the disorder using his test, which involves analysis of a dried blood spot, usually taken with a pinprick to an infant’s heel.

It was the first disorder for which anybody screened newborns and is considered “one of the greatest public health successes of the 20th century,” having prevented thousands from becoming mentally retarded, according to the federal Centers for Disease Control and Prevention.

Arkansas has been screening for phenylketonuria since 1967, said Dr. Bob West, deputy chief of family health at the Arkansas Department of Health. It’s one of 29 rare but treatable genetic disorders the state screens for, along with hearing tests.

The department doesn’t track phenylketonuria cases, but it’s estimated that about 100 people in the state have the disorder. About two or three new cases are diagnosed annually, West said.

Sarah’s mother, Holly Johnson, said she’ll never forget the day she got the call from Arkansas Children’s Hospital. It was a scary time. Sarah was her first child, and suddenly she was diagnosed with an incurable, lifelong disorder Johnson had never heard of.

“You don’t know what it is. It’s extremely overwhelming,” she said. “The next day I went to the library at UAMS, and for two days looked up everything I could find.”

She read article after article about the high risks of brain damage and short life spans associated with the disorder.

“Just horrible stuff was all I could find,” Johnson said.

But doctors at Children’s Hospital reassured her that Sarah could live a long and healthy life as long as her phenylalanine level was closely monitored and she stayed on a strict, low-protein diet throughout her life.

For the first two years of her life, Sarah went to the hospital weekly for testing. She then went every other week until she was 4, and monthly after that.

Sarah now goes to the genetics clinic twice a year.

“She’s doing very, very well,” Johnson said.


People must inherit a deficient gene from both parents to have phenylketonuria. The disorder can be mild or severe, said Dr. Stephen Kahler, director of the genetics clinic at Children’s Hospital.

Since much of the brain damage from the disease occurs early in life, it’s important that newborns be diagnosed and treated early.

“It’s extremely serious in young children,” said Kahler, also a pediatrics professor at the University of Arkansas for Medical Sciences. “A child who is untreated in the first year of life may lose 50 IQ points.”

Doctors once thought it was OK for people with phenylketonuria to come off their medical diets at school age, but now recommend they stay on them their entire lives.

Risks of mental retardation lessen as patients get older, but high phenylalanine levels can cause other problems, including impaired decision-making ability or movement problems.

Women with the disorder have to be on the diet when they become pregnant or their babies will be born highly retarded with small brains, Kahler said.

Sarah takes 11 pills each day and drinks a special metabolic formula three times daily. She’s on a medication called KuVan that was approved by the U.S. Food and Drug Administration in 2007 as the first prescription drug for phenylketonuria.

“KuVan has allowed some kids to increase their natural protein intake, maybe double it,” Kahler said. “It gives them a much greater variety of foods to choose from, but it doesn’t work for everybody.”

Hopes are that medical research into gene therapy will one day lead to a cure, he said.

In the meantime, people with the disorder and their families continue to cope with day-to-day challenges. One of those is cost, Johnson said. It’s an expensive disorder.

The metabolic formula Sarah drinks daily costs about $75 to $80 a can, and the KuVan is about $11,500 a month.

Before Sarah was on KuVan, Johnson said, they had to order special low-protein foods from medical food companies that make things like low-protein pasta, biscuit mix and “mockchicken” nuggets. Such foods cost them about $10,000 annually.

Johnson said she’s fought with health-insurance companies since Sarah was born. Many won’t cover the formula or the special foods, calling them “nutritional supplements.”

At one point, Johnson quit her job for nearly two years so the family could qualify for the state Medicaid program because it was the only way they could get coverage for the foods.

Frustrated, she worked with then-Sen. John Brown, R-Siloam Springs, to get a state law, Act 1113 of 1999, requiring insurance companies to cover such foods.


Sarah recently went to Space Camp at the U.S. Space and Rocket Center in Huntsville, Ala., and starts ninth grade at eStem High Public Charter School this fall. She loves reading and the color blue and enjoys playing golf, running and riding her bike.

While she can eat more foods now, like many teenagers, she’s a picky eater. She doesn’t eat meat, describes milk as “disgusting” and doesn’t like ice cream or the way peanut butter sticks to the roof of her mouth.

Her favorite sweets are Jolly Rancher candies – every flavor except blue raspberry.

“She’s just not real keen on trying new foods,” Johnson said.

Christine Brown, executive director of the Tomahawk, Wis.-based National PKU Alliance, knows the challenges of the disorder well.

Two of her three sons – Connor, 3, and Kellen, 18 months – have phenylketonuria.

Brown got the call about Connor, her second child, about a week after he was born.

“We were completely overwhelmed,” Brown said. “I just remember sitting in a rocking chair with this newborn baby and just sobbing, and feeling like I had done this to him because it was genetic – so it was something my husband and I had passed on to him.”

She worried about all the things her son would never experience. It made her realize how food-focused American culture and traditions are.

“You go through a grieving process, where you start wondering, ‘What is he going to eat the night of his prom? What is he going to eat when he goes to his first birthday parties? He can’t have hot dogs, he can’t have cupcakes, he can’t have apple pie on the Fourth of July,” Brown said. “It was really heart-wrenching.”

But as time passed and she learned more about the disorder, she learned to adjust.

Her sons take their formula daily, and since they live in a rural area, she’s learned to take their blood samples at home to send in for lab testing.

The alliance she leads was founded last year to provide a broad voice for people with phenylketonuria, and works to raise awareness about the disorder, provide education and advocacy, and raise research funds.

“It’s like with anything else, when you’re hit a blow and you find out the life that you thought you were going to lead isn’t what’s in store for you, you learn to cope and you learn to find the silver lining,” Brown said. “You just learn to live a new normal.”

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