La Grange Family Raises Awareness of Rare Genetic Disease

LA GRANGE, IL - Nine-year-old La Grange resident Isabel McKeehan spent the first two years of her life in and out of hospitals. She was vomiting, had signs of liver failure, and didn't have much energy.

Her parents, Lupe and Nick, finally found the diagnosis for their little girl, when she was about two and a half. Isabel has urea cycle disorder (UCD), which is an extremely rare genetic disease that only affects 1 in 35,000 people in the United States.

The diagnosis means that Isabel's body was unable to process nitrogen, which could lead to toxic levels of ammonia in the blood, which could result in irreversible brain damage, coma or death.

Lupe said that Isabel's diagnosis was more difficult because her symptoms were sporadic.

"She wasn't yellow or lethargic," Lupe said. Yellowing of the skin is often a sign of jaundice, which could be a sign of liver failure.

After the diagnosis, Lupe did realize that Isabel had really puffy "baby cheeks."

"Looking back, I now realize, she was swollen."

Now at nine years old, Isabel is a third grader at St. Cletus in La Grange. She follows a strict low-protein diet and takes medication. At times, these restrictions can be difficult for Isabel, who is an active child who wants to go on sleepovers and eat everything that other kids are eating.

"She's a regular kid, and she doesn't want to live with restrictions," Lupe said. "She eats like a vegetarian or vegan. It's a balance between protein and calories."

Isabel has been stable for years now due to this diet and supplements that she takes. She loves school and her best friend, Olivia, who she says is always by her side.

"My favorite class is library, gym and Spanish," Isabel said. "I like to watch 'Phineas and Ferb,' have play dates and text my friends."

As for the future, Isabel said that when she grows up, she wants to be a scientist.

"I want to find a cure, in case they don't find one."

Lupe has been active in sharing her story to help other families impacted by rare diseases know that they are not alone.

"I kind of stumbled upon it," Lupe said, of her work as an ambassador for local pharmaceutical company Horizon Pharma. Recently she worked with the company to launch "UCD in Common," a website that provides educational and interactive resources for those that have UCD or are looking for more information about it.

"My main objective is to help other families," Lupe said.

Photo provided by Edelman Health.