Health Care System Considerations for Rett Syndrome Management

Paige Nues provides her closing thoughts regarding the treatment management of Rett syndrome.

Paige Nues: We have never felt more optimistic than [at] any time in the Rett syndrome’s history in terms of diagnosis today. We have a good idea of what the natural history of Rett syndrome looks like. We know that it's not degenerative and that for the majority of cases, it has a genetic cause and that there are hopeful genetic gene modifying therapies coming our way. Interventions are possible. Also, that medical care, really good medical care, can extend longevity well into adulthood. We also know that, being a rare disease, it really takes the perspective of someone who understands the syndrome to give the best care plan possible. To be able to help tease out what is the result of Rett syndrome and what might be a common issue that anyone who is a human being might suffer. Whether it could be any number of things. It's a difficult journey to tease those things out sometimes or to know where your child is on the spectrum. Referrals to a center of excellence is really one of the most important things that can help a family feel confident that the care plan they have for their child is the best one available today. For providers to be able to authorize referral to a center of excellence can be a troubling journey, especially if the nearest center of excellence is outside of your state, and you might be on a Medicaid program.

In closing, I would love to know that the health care system would support regular referrals once a year or once every few years to a center of excellence to make sure that somebody who truly understands this disorder is taking a look at the interventions, treatments, and care plan for every individual with Rett syndrome. Whether they are a child, an adolescent, young adult, or a senior, this is important. Additionally, that somebody who truly understands Rett syndrome can get eyes and hands on that child and look at their care comprehensively with a multidisciplinary approach. That the care plan can come back to the local care team and be executed without question so that the recommendations truly are recognized as being the best standard of care for that child.

Where we are today with the centers of excellence across the country for Rett syndrome is the best place we could hope to be. They are equipped to do clinical trials. They are equipped to understand and know what clinical trials are available. They are also equipped to be able to help families tease out what Rett syndrome is and what it is not, and make recommendations back to local care teams for what interventions, medication changes, equipment, education plans, and therapy plans could best benefit the child. To have clear communication and clear authorizations for those services would really be the most ideal world possible. We would like to ask everybody involved in the process to help that happen most efficiently for families so that they can stay focused on being parents. They can stay focused on their jobs and staying whole as a family and get back to living life.

Transcript edited for clarity.

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