Shawn Connor, father of a girl with Rett syndrome, talks about the advocacy group, Believe in Brynn.
As Mr. Connor explains, Believe in Brynn is a patient advocacy group focused on the education of Rett syndrome and funding clinical research. The group hosts annual events such as their Annual Happy Hour to Help End Rett, which raised over $80,000 last year for the Rett Syndrome Research Trust. To learn more about Brynn and this group, follow Believe in Brynn on Instagram, Facebook, and Twitter.
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.” Eventually, there is 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.
Generally, 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.
For more information about Rett syndrome, visit our Rett Syndrome Learning page here: https://checkrare.com/rett-syndrome/