Shawn Connor, father of a girl with Rett syndrome, talks about his daughter’s diagnostic journey.
Rett syndrome is a rare, progressive neurodevelopmental condition that primarily affects girls. These girls appear to develop normally during the first 6 to 18 months of life, followed by a developmental “plateau,” and then rapid regression in language and motor skills as synaptic connections deteriorate over time. This complex disease is typically caused by a genetic mutation in the MECP2 gene.
Common symptoms include:
- hand-wringing
- fits of screaming and inconsolable crying
- autistic features
- panic-like attacks
- bruxism
- episodic apnea and/or hyperpnea
- gait ataxia and apraxia
- tremors
- seizures
- slowed head growth
Most patients with Rett syndrome live into adulthood but require round-the-clock care. The U.S. Food and Drug Administration (FDA) recently approved trofinetide, the first and only approved targeted therapy for this disease.
As Mr. Connor explains, his daughter, Brynn, followed the same symptomatic path as most girls with Rett syndrome do – she developed normally until 6 months of age and then hit a developmental plateau. Around Brynn’s first birthday, Shawn and his wife began consulting specialists and got Brynn involved with an early intervention program that provides services and support to families and their young children with developmental delays or disabilities. It took over a year to receive a proper diagnosis.
Mr. Connor also speaks to the impact of this diagnosis on him and his wife. At the time of Brynn’s diagnosis, Mr. Connor’s wife was 8 months pregnant, which added to the stress and devastation. Mr. Connor also mentions a 4-month period of grief and self-driven education before they were ready to talk to friends about it and advocate for Rett syndrome research funding through their organization Believe in Brynn.
For more information about Rett syndrome, visit our Rett Syndrome Learning page here: https://checkrare.com/rett-syndrome/