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Little girls shouldn't have to be on diets. For Charlotte Watkin, however, a diet keeps her functioning.
Charlotte, 7, has phenylketonuria (PKU), a disease that makes her body unable to process the amino acid phenylalanine. This becomes poisonous to her system and, if not regulated, could lead to a mental handicap.
Discovery
Mary and Charles Watkin learned of Charlotte's disease through the newborn screening test, a blood test taken when babies are born. The test screens for more than 30 disorders that affect babies worse when they're born rather than when they're older.
"When we first found out about PKU, of course we never knew what it was," said Mary Watkin. "... They called us at day nine and said we need to do a new test."
PKU is a genetic disease. It was passed to Charlotte from her parents through recessive genes. She had a 25 percent chance of having the disorder. Charlotte's siblings were also at risk of having PKU; however, none of them have it.
Prevention
Currently, the Watkins use the hospital in Iowa City to help Charlotte.
"We use a metabolic clinic at the Iowa university hospital," said Charles, "and they're a great resource because they're taking all metabolic conditions for children in the state."
Charlotte is unable to eat meat, most dairy, chocolate and other foods containing phenylalanine. To replace the nutrients she is unable to get through her strict diet, she drinks a formula containing a synthetic form of the protein. She goes through about six cans of formula a month.
However, there are foods specially made without phenylalanine. The state has an allotment for children with PKU, so that goes toward phenylalanine-free macaroni and cheese, spaghetti and chocolate.
"We do allow her to have some normal (food) because I don't know where insurance is going to be when she's older," said Mary, "so I am trying to teach her to have self control when it comes to food and diet."
The family also helps raise awareness for PKU research, newborn screening tests and the forgotten generation, a generation of people with PKU unable to get formula.
"We do a fundraiser every year. We've done numerous fundraisers out at the Supertel, which they're very generous," said Mary.
In addition to the yearly fundraiser, the family hosts other events such as silent auctions, plays and a fundraiser held at Pizza Ranch.
The family also writes Charlotte's Notes once a year, a letter of information about PKU. The last letter, written in November, addressed the U.S. Senate unanimously passing a resolution designating Dec. 3 as Phenylketonuria Awareness Day. May is also designated as PKU Awareness Month.
The Watkin family helps put together packages of shirts, bracelets, cookbooks and other things for kids who suffer from PKU. The shirts boast the tagline "You've got the right to be bright—so drink up." This is in reference to the formula that prevents children from becoming mentally handicapped. Currently, the formula is not seen as a necessity in the eyes of Iowa insurance companies.
Family
Even though diseases such as this have crippled children in the past, Charlotte seems to have a normal childhood.
"(I can be) one of the kids. I can make friends," said Charlotte.
Charlotte is active in T-ball, as well as other things with her brothers and sisters.
"We treat it as normal. We don't want her to feel that she's different," said Mary. "It hasn't been a struggle because we haven't made it a struggle."
Charlotte's siblings are Charlene, 15, James, 9, Charleze, 4, and Roman, 1.
"We have a farm, so we kind of play around. (We) play in forts, we have horses so we ride. We just do all kinds of crazy things," said Charlene.
The Watkin children are homeschooled. They all play violin and take lessons with their neighbors, the Gates family. They all participate in Clover Kids, part of 4H, doing projects and showing dogs.
"I don't know that it's affected our lives any differently," said Charles.
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Info Box--What is PKU?
PKU, short for phenylketonuria, is a genetic disease in which the body cannot process the amino acid phenylalanine. If this amino acid cannot be processed, it will build up in the bloodstream and cause brain damage. PKU affects 1 in 15,000 babies every year.
PKU is detected through a blood test taken when babies are born, called the newborn metabolic screening. If PKU is not treated properly, the phenylalanine buildup will cause brain damage and mental retardation within the first few years of life. It also causes behavioral problems and skin discoloring.
Phenylketonuria is incurable. It is treated through diet and supplements. Phenylalanine is found in high-protein foods such as meat, beans, dairy, and things containing aspartame. After awhile, foods low in phenylalanine, such as certain vegetables, fruits and grains, can be added to the diet. To replace the loss of protein, a supplement is available that contains lost nutrients but has no phenylalanine.
The risk of maternal PKU is also present. If women with PKU are off the special diet and are pregnant, there is a 90 percent chance the baby will be born with severe mental retardation, behavioral problems, heart defects, and other issues. By maintaining their diet, these women could bring a healthy baby to term.
Research is ongoing to prevent some of the effects of PKU. March of Dimes recently added PKU to their list of birth defects. For more information, see the March of Dimes website at http://www.marchofdimes.com/baby/birthdefects_pku.html, or visit the Children's PKU Network website at http://www.pkunetwork.org/Childrens_PKU_Network/Home.html.