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How Rett Syndrome Impacts Patient Quality of Life


Rett syndrome significantly impacts both patient and family’s quality of life.

Paige Nues: Rett syndrome is a pervasive developmental disorder. It affects every single aspect of the child's life, and it will continue to do so through adulthood, but it's not degenerative. It is progressive. It affects their ability to get out of bed themselves and their ability to fix a meal. The lack of clear communication or ability to communicate without assistive technology impacts their ability to say that something hurts and where it hurts. They're completely vulnerable to the care of the people around them. Yet, children and adults with Rett syndrome, both male and female, tend to be very social. They tend to respond and crave relationships and interactions with support. They sense when they can trust the people around them and respond to empathetic care. They may be sassy or smart, too. They're smarter than they can express without assistive technology and communication devices. When people understand that and treat them well, they really can enjoy a quality of life living at home, being part of the community, and going to school, which can be wonderful.

They are dependent 24/7 for all aspects of care. The symptoms can progress from orthopedic impairments, communication impairments, gastroenterology, gastrointestinal disorders, and neurologic conditions such as movement disorders, epilepsy, and sleep [disturbances]. Some children are very emotional and need regulatory help with stabilizing those emotions. This can impact the quality of life without strong interventions or treatments. Right now, it becomes a team effort to manage their care. A pediatrician or a GP often cannot get the job done themselves and it requires a whole team effort across multiple specialists, pharmacies, therapy units, and the education system. This includes families, foundations, private foundations, and nonprofits. It's incredible. The quality of life is impacted from infancy, early childhood, all the way through adulthood and oftentimes individuals with Rett syndrome will outlive their parents. Parents may fear that they might not outlive them. It's intense and the partnership is really important between families and providers to get the best quality of life possible for an individual with Rett syndrome while we are all waiting with great hope for true interventions and, ultimately, a cure for Rett syndrome to come. We believe that it will come.

Transcript edited for clarity.

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