St. Cletus third grade student and LaGrange resident Isabel McKeehan has a genetic disorder that affects one in 35,000 people in the United States: urea cycle disorder (UCD).  UCD is either genetically passed down, or genetically mutated.  Isabel was affected by gene mutation.  Patients affected by UCD experience difficulties in the liver, and can not convert ammonia safely into the urea.  As a result, these ammonia levels can become toxic, resulting in coma, brain injury or death.

For many patients, it takes a long time to obtain a proper diagnosis, largely because it is so uncommon, Isabel’s mother Lupe McKeehan said.

“Recently at a college campus, a girl collapsed and died,” Lupe said.  “People assumed that she partied too hard, but in reality the biopsy revealed that she had gone undiagnosed with UCD.”

For roughly a year, Isabel was in and out of hospitals enduring numerous liver tests. Originally, the doctors reported liver failure and recommended a liver transplant.  Both her mother and father, Nick McKeehan, were possible donors.  However, two weeks later she was tested again and produced different results.

“That second test revealed to doctors that her liver was clotting blood at normal levels,” Nick McKeehan said.  “This caused [the doctors] to dig deeper and find out what was going on with Isabel.” After two years of continuous liver testing and hospitalizations, doctors finally diagnosed Isabel with UCD.  With this diagnosis came numerous restrictions.  Isabel must eat a low protein diet and take numerous supplements and other medications.  Lupe adds these supplements to a fruit smoothie that Isabel drinks every morning.  On top of her daily smoothie, she also takes three other doses of UCD medication, one at each meal.  Finally, Isabel is limited in sports because as she burns calories, she must consume an equal amount of calories so her ammonia levels don’t become toxic, Lupe said

“Isabel can have 19.5 grams of protein each day,” Lupe said. “To put that in perspective, one six-ounce container of yogurt has over 10 grams.  That’s over half of her daily allowance.”

Because of the extreme of her dietary restrictions, Lupe has a running notebook of the dietary information of the food Isabel eats each day.

“Due to the severity, we are constantly watching her,” Nick said.  “With this disorder there comes a level of uncertainty in our daily lives.  I think most people strive to have certainty in everything they do.  If Isabel gets sick, we can’t always find what caused it.”

In addition to UCD, Isabel is also celiac, meaning she can’t digest gluten. Many companies produce “false-meats” in order to combat low protein diets.  However, Isabel is unable to consume these alternative meats because they are produced with gluten, Lupe said.

As a result of the dietary restrictions, Isabel’s diet mainly consists of fruits, vegetables, soup and other rice-based meals.

Although St. Cletus lacks an official school nurse, she has a strong support system in place at school. Before every school year, Lupe informs her teachers of warning signs, and they are vigilant as a result.  On top of the administrative supervision, Lupe also visits the school every day to administer Isabel’s medicine.

“I don’t think the lack of a school nurse puts Isabel at a disadvantage,” Isabel’s former first grade teacher and current Assistant Principal Christie Schaefer said. “We [staff] are very educated.  Although we aren’t certified school nurses, we are able to assist in medical areas.”

Additionally, Isabel experiences support from her friends and classmates. They are often attentive towards Isabel, reminding her to eat her snack, stay hydrated and take her medicine, Lupe said.

“She would often become lethargic before lunch,” Schaefer said.  “Whenever this happened, I would warn Lupe and we would handle it appropriately.”

Despite the severity of Isabel’s disorder, she lives a very healthy life. Her most recent hospitalization occurred last year, in the second grade.

“One day, her teacher called me,” Lupe said. “She said that she was sleeping in class.  I immediately knew that something was wrong, so I rushed her to the emergency room.”

Due to the lack of awareness of this disorder, Lupe works with numerous pharmaceutical companies in an attempt to raise awareness. In the first week of May, she traveled to a seminar in Seattle, and in the third week of May she will be traveling to Charlotte, N.C.  At these seminars, she meets other families and patients to share experiences and stories.  Many of these stories have led Lupe to her next goal: lobbying in Washington D.C.

“I would love to do legislative work in Washington D.C. so that families don’t lose coverage,” Lupe said. “If patients lose treatment because they can’t afford it, their lives are at danger.”

Combining the costs of medication, supplements, and dietary concerns, Lupe estimates that it would cost roughly $400,000 if they didn’t have health insurance.

While Isabel may have to be more careful in her daily life, some of her lifestyle differences aren’t noticeable.

“I see her as an ordinary kid,” Schaefer said. “If I didn’t have prior knowledge, I don’t think I could have picked her out as any different.”

In June, Isabel and her family will be traveling to Hawaii for her Make-A-Wish.

“I’m very excited for my trip,” Isabel said. “I look forward to having fun with my family.”

Though Isabel is supported by her classmates and friends, her former teacher argues that all schools and students need to become more aware of different dietary restrictions.

“I think one important aspect of school is building the awareness that not everyone in your class is the same,” Schaefer said. “I would hope that students don’t look at someone differently because they eat different foods.  We need to be aware of food and potential hazards towards other kids around us.”