Paige Nues: The biggest unmet need for Rett syndrome is that there is no intervention or cure for this disorder. Onset is between 6 months to 1 to 3 years of age, and they are living to near normal adulthood, for decades and decades. They’re living a life of being nonverbal, being misunderstood, not being able to communicate their wants and needs. In talking to thousands of parents at this stage of my personal journey in Rett syndrome, that is one of the biggest unmet needs, feeling that we know she’s in there, but she or he cannot communicate the things they want or need. So, we are constantly working with our team, whether it’s in the school setting, in medical exam rooms, or talking to other parents on forums. It is difficult to find the solutions for a child because they are unable to tell us themselves what they need.

Also, treatment for epilepsy, orthopedic impairments, or movement disorders are things to consider. There are many medications for these things, but they don’t always work. They can’t restore any of the motor skills that have been lost. GI [gastrointestinal] complications are one of the biggest unmet needs and create such a huge burden of care as well. The majority of people with Rett syndrome are incontinent. They have chewing and swallowing issues. Certain textures must be modified for them to be able to get the nutrition they need. Alternative methods for getting nutrition and hydration and medications in, such as with G [gastrostomy] tubes or GJ [gastrostomy-jejunostomy] tubes, are often needed for families with Rett syndrome. Every time one of these symptoms becomes more pervasive and medical interventions are needed—perhaps a CPAP [continuous positive airway pressure machine], or a BiPAP [bilevel positive airway pressure machine], or oxygen support are needed—the level of care becomes more complicated. You can’t just hire a babysitter to take care of your child. You really need someone with medical knowledge to take care of your child.

Your entire life becomes wrapped around these unmet needs. Parents are willing to learn and do the things that are needed for our children. I will be my daughter’s arms and legs as long as she needs that. But the biggest unmet need is understanding [things like] where it hurts, what she’d like to do for the day, where she’d like to go to school, or if she’d like to continue as an adult to live at home, or if she’d like to live independently. I would like her to be able to achieve some level of independence, but our children cannot. They need 24/7 care.

Transcript edited for clarity.