At Children's Hospital, saving a young girl from her own body's poisons
Wednesday, November 24, 2010; 8:56 PM
There were many clues as to what had afflicted little Cora Jameson her entire life - her uncontrollable tantrums, her strange eating habits, the dark rings under her eyes - but, as I related in Wednesday's column, it was hard to know where to start.
It took just one test for Dr.Uta Lichter-Konecki to be sure.
When the results came back to the Children's National Medical Center emergency department, to which 4-year-old Cora had been rushed, comatose, in February 2008 after an hours'-long rage, the reading for ammonia in her blood was nearly 500 micromoles per liter. A normal reading is 35.
Cora's brain was bathed in this dangerous chemical, a condition known as hyperammonemia.
Lichter-Konecki, director of the metabolism program at Children's Hospital, immediately ordered hemodialysis to clean Cora's blood and then a course of ammonia-scavenging drugs. Twenty hours after she was admitted, Cora woke up a girl transformed.
"She had the biggest smile," said Todd Jameson. He and his wife, Maria, had brought foster child Cora and her brothers, Devin and Clayton, into their Waldorf home just four months earlier. "She said, 'Mom, Dad, can I have a Sprite?' "
It was probable, Lichter-Konecki told the Jamesons, that Cora had never known what it was like to live without a body that was slowly poisoning itself. She was born with a urea cycle disorder, a genetic flaw that makes her body unable to process protein properly. Nitrogen that is normally metabolized in the liver and excreted through the kidneys as urea is converted to ammonia and builds up to dangerous levels.
That's why Cora would bruise easily and why she would act drunk. It's why she threw up after eating some foods and had strong cravings for others, even taking potato chips and french fries from the trash to eat. She knew those low-protein foods wouldn't harm her.
"The healthier the food we gave her, the sicker she got," Maria said.
Cora is now on a diet that restricts her protein to 20 grams a day, just enough to grow. She takes medication daily and visits Children's monthly, where she sees Lichter-Konecki and genetics counselor Kara Simpson and is part of the hospital's long-range study on the condition.
Now 7, Cora is good at monitoring her diet, but as a medically fragile child she still requires a lot of attention. Mom Maria had to leave her government job to be around for her. Todd's bosses at Johnson Controls, where he works as a project manager, have been great.
And Cora continues to amaze people. "She is the incarnation of Pippi Longstocking," said Lichter-Konecki of her spunky, red-headed patient, who is in the Brownies and on a swim team.