Harlem residents Yoni Revah and Lauren Witter are using their personal experience to help other families understand SATB2‑associated syndrome (SAS), a rare neurodevelopmental disorder caused by a change in the SATB2 gene. Their daughter Josephine, now five, enjoys tea parties, fashion and dress‑up play, but she communicates through sign language and a tablet because the condition often limits speech.
Diagnosis and early challenges
The family received the diagnosis when Josephine was two years old after a call from a genetic counselor. The counselor warned that the gene alteration could mean Josephine would never speak. Revah and Witter, both with science backgrounds, dove into the primary research to become as knowledgeable as possible, noting that even the counselors knew little about the condition at the time.
SAS can lead to low bone density, palate abnormalities, developmental delays and, in many cases, an inability to speak. According to the SATB2 Gene Foundation, fewer than 1,000 cases have been officially diagnosed across 50 countries, though experts estimate the true prevalence is higher, roughly one in 30,000 individuals.
Family perspective on lifelong support
Witter emphasizes that children with SATB2‑associated syndrome will need support throughout their lives. “They’re not living independent lives. They’ll need help navigating where they live, daily activities, and overall functioning,” she said.
The Revah family encourages parents who notice developmental concerns to seek genetic testing and early‑intervention services. Early intervention can include physical, occupational, speech and feeding therapies, all of which can have a substantial impact on a child’s quality of life.
Advocacy and research
Susan Comparato, executive director of the SATB2 Gene Foundation, stresses the need for more research and resources. Her own son, Michael, was not diagnosed until age 15, illustrating how many cases remain hidden. The foundation works to fund research, provide educational materials and connect families with specialists.
Comparato notes that SATB2‑associated syndrome is typically not inherited from a parent, underscoring the importance of genetic counseling for families with a newly diagnosed child.
How local families can help
The Revahs hope that sharing Josephine’s story will prompt other parents to recognize potential developmental red flags, pursue appropriate testing, and connect with support networks such as the SATB2 Gene Foundation. For more information, families can visit satb2gene.org.
Original reporting: Brookhaven News – ABC7 New York — read the source article.
