"But on day ten, the pattern broke. The results of a rapid-genomic-sequencing test showed that Jorie had DeSanto-Shinawi syndrome, an extremely rare, incurable disorder marked by abnormalities in the WAC gene, which is thought to play a crucial role in neurodevelopment. DESSH, as the syndrome is sometimes called, was first described in 2015, just eight years before Jorie's birth in 2023."
"Because the affected gene is associated with brain development, those with the syndrome often have motor challenges, intellectual differences, and sometimes behavioral and social ones, too. They also tend to have hypotonia, or muscle weakness, which means they might struggle to walk, sit up straight, eat, or even breathe. (The diagnosis helped explain many of Jorie's mysterious health issues.)"
"There are few treatment options available, beyond Band-Aids like physical therapy for symptom management. In the doctor's office, Joanie heard all of this, but she launched into her usual line of questioning anyway - "What now? How do we fix this? " - until Dave spoke up. "Joanie, there's no fix for this," he said."
Jorie Kraus was born at 33 weeks by cesarean and spent weeks in the NICU. Prenatal scans had signaled a heart abnormality, but postnatal exams revealed five heart problems plus spinal and gastrointestinal abnormalities requiring surgeries. Rapid genomic sequencing on day ten identified DeSanto-Shinawi syndrome, caused by WAC-gene abnormalities that impact neurodevelopment. The syndrome commonly produces motor delays, intellectual differences, behavioral and social challenges, and hypotonia that can impede walking, sitting, eating, and breathing. Treatment options are limited to supportive therapies such as physical therapy. Parents confronted the reality that no cure exists.
#desanto-shinawi-syndrome #wac-gene #neonatal-intensive-care #genomic-sequencing #rare-genetic-disorders
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