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Solving Luke's Mystery Illness

February 24, 2016

Some diagnoses are straightforward. Others demand the deductive powers of a team of medical detectives to solve. In the case of 16-month-old Luke McDonald, it took the combined efforts of a multidisciplinary group of experts at Ann & Robert H. Lurie Children's Hospital of Chicago to find the cause of his seemingly unrelated symptoms.

Just days after birth at Prentice Women's Hospital, Luke was admitted to its Neonatal Intensive Care Unit (NICU) with jaundice. Tests also showed he had a low blood platelet count. After discharge, Luke's parents, Matt and Stefanie, were referred to Alexis Thompson, MD, Hematology Section Head of Lurie Children's Center for Cancer and Blood Disorders. Her initial impression was that Luke had a minor blood problem that usually goes away without treatment.

At Luke's three-month check-up, his pediatrician expressed concern that although he was at a very low percentile for his height and weight, his head circumference was in the 80th percentile. Luke's parents were referred to Tadanori Tomita, MD, Head of Lurie Children's Division of Neurosurgery, who closely followed him. Eventually, Luke developed  hydrocephalus, and would need a shunt inserted into his brain to drain the buildup of fluid.

"We were absolutely devastated to receive this news, says Stefanie. "Our perfect little guy would be rendered somehow imperfect."

When Luke was six months old, his parents also grew concerned about his lack of appetite and delays in his gross motor skills, and he began treatment with physical and feeding therapists at the hospital.

Luke's platelet count continued to drop, and his growth slowed dramatically. Dr. Thompson ordered a full-body X-ray on the same day Luke had his pre-operative CT scan for his shunt surgery. Just as the anesthesiologist was about to put Luke under for his CT scan, Stefanie received a call from Dr. Thompson.

"She asked me where we were in the hospital, and said she was on her way to talk to us," says Stefanie. "When I got off the phone, I began to shake."

Dr. Thompson told Luke's parents that he had an extremely rare bone disorder called malignant infantile osteopetrosis, which results in abnormally dense bones, and can cause bone marrow failure, blindness and hearing loss . The only effective treatment is a stem cell transplant. Without one, children with Luke's severe form of the disease usually die before they are 10 years old.

Stefanie says she and Matt feel fortunate to have a world-class institution like Lurie Children's in their own backyard. Since 1992, Lurie Children's Pediatric Stem Cell Transplant Program has performed more than 1,000 transplants, making it one of the nation's largest pediatric programs. Although Lurie Children's has treated only seven patients with osteopetrosis, it is one of the few U.S. children's hospitals with any experience in treating it.

Five weeks after his diagnosis, Luke received stem cells from an umbilical cord blood donor.

"Luke’s actual stem cell transplant lasted all of 20 minutes," says Stefanie. "A priest came to Luke’s room to bless the bag of stem cells, and our family stood in a circle and prayed those cells would save Luke's life."

Luke spent 64 days as an inpatient at Lurie Children's, with his mom staying in his room day and night as they waited for the stem cells to start to produce new blood cells.

"When you 'live' at the hospital, the nurses and staff became like family, and it kind of feels like home," says Stefanie. "You really feel supported and comfortable."

Since his discharge from the hospital in September, Luke has thrived. With the help of his various therapists, he is catching up developmentally and displays no cognitive issues. 

"When Luke left the hospital, he could barely sit up," says Matt. "Now he's mobile, and is starting to get into everything."

Luke's prognosis is encouraging. While stem cell transplant recipients need to be followed closely through adulthood, as long as Luke's body doesn’t reject the donor stem cells, he should be able to live a normal life.

Stefanie recently became a member of the Children's Service Board, one of Lurie Children's most active affiliated organizations, whose current fundraising commitment is in support of the creation of a Molecular Oncology and Bioinformatics Program at the hospital.

"Supporting pediatric research is such a worthy cause," says Matt. "We look forward to a day when children like Luke with genetically inherited blood disorder can be treated with gene therapy, and avoid the need for stem cell transplants."

Alexis Thompson, MD, is the A. Watson and Sarah Armour Chair of Childhood Cancer and Blood Diseases; Tadanori Tomita, MD, is the Yeager Professor of Pediatric Neurosurgery.