New Research Proves Timely, Personalized Care Following Teddy’s Rare Diagnosis
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Summary
Thanks to donor support and research at Seattle Children’s, rapid genomic testing — the same approach that saved Teddy’s life — is now available hospital-wide, a new standard of clinical care that cuts rare disease diagnosis from 289 days to just 13, delivering faster, personalized, life-saving treatment.
As far as the Hubbards knew, Emily’s pregnancy with Teddy was as normal as they come. Standard prenatal testing, visits to their family provider, and life at home with three soon-to-be siblings, raised no red flags. It was only after Teddy’s first few months—when he showed signs of lethargy and disengagement—that Emily realized something was wrong.
“While many of my friends assured me that he was fine, my gut was telling me otherwise,” Emily shared.
Her family provider referred them for further investigation. After a visit with an ophthalmologist, Emily received shocking news: Teddy was blind and his head was showing signs of swelling.
Following an urgent phone call to their family provider, Teddy was immediately referred to Seattle Children’s Emergency Department. The care team rushed the Hubbards to intake, checked vitals, and quickly discovered Teddy had low blood counts, requiring an urgent transfusion.
“Everything was happening so fast and flags were escalated so quickly,” Emily recalls. “The entire time, we were hunting for a diagnosis, but things just weren’t adding up.”
Over the next week, Emily met with a cross-disciplinary care team across Children’s, each of them lending their perspective to help diagnose Teddy’s condition. It was a full body x-ray that began to give the answers they were searching for.
The suspected diagnosis was an extremely rare condition: osteopetrosis, otherwise known as marble bone syndrome. This genetic condition causes bones to grow quickly and densely, making it difficult for the body to reabsorb older bone. This overgrowth can lead to the loss of sight and hearing, and in fatally progressive cases, can crush life-sustaining marrow, causing the immune system to collapse.
The Journey from Inpatient to Life-Saving Treatment
During Teddy’s hospital stay at Seattle Children’s, he was seen by inpatient Genetics team members Jennifer Hayek, MD and Abbey Scott, MS, CGC and rapid genomic testing was coordinated as part of his clinical care. As suspicion of osteopetrosis grew, the genetic testing laboratory was alerted to ensure coverage of associated genes. Teddy’s results confirmed the diagnosis: pathogenic (disease-causing) variants in both copies of the TCIRG1 gene.
This exact testing was what fast-tracked the Hubbards’ navigation of care, which required a suitable bone marrow transplant. The preliminary genetic results were available within about one week. The next step was targeted genetic testing for Teddy’s older brother, which showed he carried only one of the two variants, making him a suitable donor. Teddy received a bone marrow transplant from his brother at three months of age, just 17 days after the final genetic testing report was available.
The Research Connection: Impact of Rapid Genomic Sequencing
Teddy’s case is one example of the necessary and impactful role of rapid genomic testing in clinical care. Seattle Children’s can offer first-tier rapid genomic testing to children admitted in any hospital unit, not just the ICU — a new standard of care driven by research. Alexandra Keefe, MD, PhD, a researcher at Seattle Children’s Center for Clinical and Translational Research and other team members analyzed electronic medical records from January 2021 through June 2024 to determine the impact of this hospital-wide access.
This retrospective study yielded impressive results. Prior to being able to offer rapid genomic testing to a child in any hospital unit, non-ICU patients previously had to have testing deferred to the outpatient setting, and on average waited 289 days to receive a diagnosis for their condition even after seeing an inpatient geneticist. After the policy change allowing rapid genetic testing, the average number of days to diagnosis was significantly reduced to just 13. Their team was able to provide a precise genetic diagnosis to 42% of children receiving rapid genomic testing outside of an ICU, significantly increasing the chances of timely and personalized care relevant to their inpatient stay and beyond.
“Seattle Children’s aims to increase access to genomic testing to provide the best and most individualized care for patients and their families. We hope to continue our research into how inpatient rapid genomic testing processes improve results and outcomes for patients.”
Life-Changing Care Powered by Community Contributions
Seattle Children's has the most generous financial assistance program of any standalone pediatric hospital in the region. Powered by remarkable support from our community, Seattle Children's provided more than $333 million of care not covered by insurance or Medicaid, including coverage of genomic testing for hospitalized patients.
Teddy's quick diagnosis prevented further complications, and he now leads a healthier life. While his vision may not return, he has adjusted to a normal childhood, keeping up with his siblings and remaining close with his parents.
Being able to participate in this research and be so supported by our care team was incredible. Teddy might not be here today if not for the life-saving care and research provided at Seattle Children’s.
--Empress Rivera-Ruiz
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