Paige Nues of the International Rett Syndrome Foundation discusses the complexity of navigating available resources and programs for patients with Rett syndrome, and the critical role of centers of excellence.
Paige Nues: For the individual with Rett syndrome as well as their family, the most important programs and resources are, really, caring and compassionate physicians who listen. Parents don’t want to spend their lives in a doctor’s office. Trust me. We don’t want to have any more medical appointments that cause us to miss work or our child’s in school or for our child to not feel well. We are doing our best to support our child who can't tell us where it hurts or what's wrong. We know what their baseline is, and we know when something isn't quite right. If we find ourselves having to seek advice, support, an exam, a referral, we really mean it. To have providers in our life who are sympathetic and empathetic, who listen and who will do everything they can to get referrals made and authorizations secured, it really helps us get back to living life with our child.
To have insurance companies who approve prescriptions readily and quickly and can understand that Rett syndrome is not something that's going to resolve is important. Additionally, if a piece of equipment, or a medication, or an assessment or an exam needs to be approved, it should be justified. These are not things that, again, people seek out just for the sake of seeking them out. We want to spend as little time as possible at a doctor's office or in a hospital. We want to spend as little time in therapy as we can. We want our children to be children. We want our adults to be adults to the best of their ability. Frankly, Rett syndrome gets in the way of a lot of that. Resources that are often very problematic for families occur as our children age. The transition from pediatric care to adult care is very complicated and we feel like the system thinks that at age 21, they'll miraculously be cured. The fact is that they will not. They'll be living with full blown symptoms of Rett syndrome through [a] near normal life span, yet there is a real lack of adult providers who are equipped or knowledgeable on how to care for somebody with such complex needs. The best resources or programs that can be available for somebody with Rett syndrome are a center of excellence that understands the rare disorder and can look at the child comprehensively and make a referral report back to a local provider who can then be empowered to carry out that care plan and trust that care plan. These centers of excellence must be accessible to families by telehealth if they can't travel or to have transportation supported.
Again, for children, that's super critical. For the adults who might be in a group home or residential placement or an institution, to be able to get to these centers of excellence is pretty complicated and often won't happen. It is important to have a complex care support system from case management, provision of insurance to authorizations, and how to manage denials. This sort of complex care is probably the best resource that could be made available to a family so that they can get their child to live their best life with Rett syndrome. Ultimately, the best would be to have successful clinical trials and a cure come. Short of that, to have better treatments that can help her breathe easier, to help him sleep better, to help him not have seizures, to be able to have a regular cold and not have it turned into a pneumonia, or not develop scoliosis. Any one of those things would be transformative to somebody with Rett syndrome. I'd have to say the best support program really would be managed care for a complex care individual where a medical home model is made readily available regardless of where you live or what your life circumstances are or what language you speak. Because the language we speak in Rett syndrome is that of love. We want the best for our children, but we also want it to happen with the least amount of visits and complexity as possible.
Transcript edited for clarity.