Nine-year-old Isabel McKeehan spent the first two years of her life in and out of hospitals until liver failure and a liver biopsy led her to a rare genetic disease diagnosis called Urea Cycle Disorder (UCD). This disease affects 1 in 35,000 children born in the U.S. and Isabel has one UCD subtype called ornithine transcarbamylase (OTC).
Rare diseases are often difficult to diagnose because they may not present common or physical symptoms, even though most diseases send you signs of illness. When a person has a UCD, the urea cycle can’t convert ammonia safely into urea and the ammonia builds up because the body can’t get rid of it. When the ammonia reaches toxic levels in the blood it can trigger vomiting, confusion, and swelling in the brain.
“Isabel was hospitalized for 7 months and during that time they tested her for everything because her liver enzymes were very high,” explains Lupe, Isabel’s mother. “She didn’t represent typical liver failure symptoms, she didn’t have jaundice (yellowing of the skin), she wasn’t lethargic, so she was a puzzle to them.”
After performing several biopsies, that’s when the doctors found that Isabel had this rare condition. “When she was first diagnosed I think I had an anxiety attack because I didn’t comprehend very well what it was and what it meant for Isabel,” she says.
UCD can present many daily challenges, including having to take medication every day and having to follow a low-protein diet. Isabel has to eat 17.5 grams of protein daily, which is about the size of a cup of Greek yogurt, which is 8 ounces. “I have a notebook where I write everything that she eats and I have to add it up to make sure that she reaches her allowed protein content,” explains Lupe. In addition to a strict diet, she also takes several supplements, which include amino acids, fiber, vitamin D, and calcium because her body is missing the normal amount of nutrients that she needs to grow and thrive.
Living a Normal Life
Isabel looks like a normal 9-year-old, she’s picky about what she eats, she enjoys school and playing with her friends. Except that she needs to be monitored more than the average 9-year-old. Her teachers are aware of her condition and they have to keep an eye on her in case she shows some odd behavior because that may be the ammonia building up in her body. “There are certain sports that I will not let her participate in because they burn too many calories and if you burn too many calories, you’re supposed to replace those with food,” explains her mom. The only sports she’s allowed to play are volleyball and swimming, and riding her bicycle of course.
At school she has an emergency plan just in case she presents symptoms of high ammonia. This has never happened, but if she shows symptoms, her teachers know to call the 911 and have instructions they need to give the paramedics when they arrive. “Last year when she was in the second grade, they called me from her school saying that she kept falling asleep. It was something that was out of the ordinary that she was falling asleep for no reason and when I took her to the hospital the doctors checked her ammonia levels and they were normal, but they did find that a sugar in her body was low, which is what caused her behavior.”
UCD in Common
When Lupe found out that her daughter had this medical condition she researched online and found a support group with people that were experiencing the same thing as Isabel. She chatted with two ladies in a support group on Facebook and when she found out that they were going to be in Chicago, close to her home, she decided that she needed to meet them. Lupe knew that she had to meet these women because they’re adults that have the exact same condition as her daughter. When Isabel was first diagnosed, she didn’t understand the disease very well, “but speaking with other families that had it for a while kind of helped me understand it better,” she says.
The ladies were involved in sharing their story on UCD in Common, which is a website that recently launched, and is a useful website that provides support, educational materials, and recipes for people who have this type of disorder. When they found out that she was a caregiver, they invited Lupe to share her daughter’s story to advocate for others that are going through the same thing.
“The most difficult thing about this disease is feeling helpless because no matter what you do, sometimes this condition creeps up on you, but if you keep informed and you have a good support system, then you will be o.k.,” says Lupe.
To learn more about Isabel and Lupe’s journey with UCD, check out this video:
