Cincinnati — Brynn Schulte faced life-threatening situations twice during her infancy, requiring urgent surgery to address a severe brain hemorrhage.
After the birth of Bryn, her mother, Lindsay, observed her grey skin and abnormal breathing. Two bulges were visible on her head because of blood pooled. Brynn was shifted to the Cincinnati Children’s Hospital Medical Center neonatal intensive care unit.
Brynn went home after treatment. She came back to the hospital after a month with a brain bleed. The doctor said, “She Wouldn’t make it.” It was a painful time for Brynn’s family. Lindsay Schulte said they couldn’t sleep because watching your child nearly die twice is a memory she’ll never erase.
The doctors and parents had no idea what wa wrong with her until her full generic blueprint diagnosed a rare bleeding disorder called factor XIII deficiency. It was an early diagnosis that saved Brynn’s life.
Brynn’s parents heard about a clinical trial involving 400 hospitalized infants. The whole family got the whole genome tested. After a week, the results showed a rare bleeding disorder affecting 1 in 3 million live births. The results of the genetic trial are mentioned in the Journal of the American Medical Association.
Brynn had another condition that caused a reaction to specific anesthesia drugs. The father, Mike Schulte, was satisfied that she could get the necessary care immediately.
The Whole Genome Sequencing (WGS) is twice as good as Targeted gene sequencing. The study by Tufts Medical Centre found 49% of abnormalities with WGS compared to 27% with targeted gene sequencing.
Dr.Jon Davis is chief of newborn medicine at Tufts Medical Centre and the study’s author. He said, “I’ve been doing clinical trials of babies for over 40 years; it’s not often that you can do something that you feel is going to change the world.”
Researchers believe that whole genome sequencing tests will be more common in the future for millions of hospitalized babies with complex health issues. Millions globally have rare disorders, and genetic factors cause about 80% of the more than 7,000 conditions. These tests can help doctors better understand and diagnose these conditions, potentially saving lives.
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