One Family's Story: Respiratory Distress Syndrome
For newborn Elliana White, hereditary lung dysfunction required a lung transplant by Washington University physicians at St. Louis Children’s Hospital. Research funded by the Children’s Discovery Institute may one day lead to alternative, advanced therapies for children like Elliana.
Gina White sensed that something was wrong. Her fraternal twins were born 5 weeks premature on April 18, 2008 in Canton, Ohio. As David progressed nicely in the newborn intensive care unit, Elliana struggled for air. Maybe Elliana would grow out of it. But what if she didn’t?
Days passed, and Elliana needed extra support to breathe. An X-ray showed a collapsed lung. David went home. Elliana stayed. Mrs. White and her husband Robert endured the stress of one baby at home and one in the hospital.
Then, Elliana took a turn for the worse.
Diagnosis: SPB deficiency
Two-week old Elliana was intubated and placed on a mechanical ventilation machine. She was transferred to a regional medical center, where she underwent genetic testing and a risky open lung biopsy. Physicians diagnosed respiratory distress syndrome (RDS) caused by deficiency of surfactant protein B (SPB)—a rare genetic defect. The prognosis was bleak.
“They told us it was SPB deficiency,” recalled Mrs. White, “and that there was nothing they could do.” Undaunted, the Whites refused to give up. “We asked the question,” said Mr. White, “If you can’t do something, who can?”
Prayer and fact-finding led to the answer: St. Louis Children’s Hospital and the skills of Washington University physician-scientists.
At 6 weeks of age, Elliana was admitted to St. Louis Children’s Hospital. After 10 weeks in intensive care, she underwent a double-lung transplant.
After several months in the hospital, Elliana was released and has been home since December 2008. She’s caught up developmentally, without delays in walking and speech. Elliana still uses a feeding tube, but is starting to transition to normal eating and drinking.
The power and promise of research
Two of Elliana’s physicians, F. Sessions Cole, MD and Aaron Hamvas, MD, collaborate with Rob Mitra, PhD, on research into SPB deficiency funded by the Children’s Discovery Institute and The Saigh Foundation. The research uses next-generation gene-sequencing technology to discover which genes, when mutated, predispose to SPB deficiency and respiratory distress.
One day, thanks to research like this, it may be possible to treat SPB deficiency by genetically targeted therapies instead of lung transplants. That’s exciting news to the White family, who, as Mrs. White said, “always hope for breakthroughs in SPB deficiency.” She added, however, that ongoing research is important to families today, not just in the future.
“Research gives information,” said Mrs. White, “and information helps families.” The White family was comforted when Drs. Cole and Hamvas explained the genetics of SPB deficiency based on their research. What’s more, the family might not have found these physicians without the vigorous, ongoing research projects funded in part by the Children’s Discovery Institute.
“Because there was so much research going on in St. Louis,” said Mrs. White, “we knew that this was a place we could come for answers. That’s why research matters—it tells people where the experts are.”
F. Sessions Cole, MD, is the Park J. White MD Professor of Pediatrics and Professor of Cell Biology and Physiology at Washington University School of Medicine, Vice Chairman in the Department of Pediatrics, Chief Medical Officer at St. Louis Children’s Hospital, and Director of the Division of Newborn Medicine.
Aaron Hamvas, MD is James P. Keating Professor of Pediatrics at Washington University School of Medicine and Director of Clinical Affairs for Newborn Medicine and Medical Director of the Newborn Intensive Care Unit at St. Louis Children’s Hospital.
Rob Mitra, PhD is Assistant Professor of Genetics at Washington University School of Medicine.