Paige Nues: Many families are learning new language, such as Medicaid and the waiver system, and are getting their heads wrapped around things like Rett syndrome being on the Compassionate Allowance list. Those are things that most parents don’t come to parenthood expecting to know. For example, having any idea how to navigate how to have their private insurance work with public services and public health care, or that their child is eligible for it, or how long they might be on a wait list. Parents become very afraid of changing jobs, and whether their insurance company will cover a certain provider or a certain specialty. Or whether it will cover durable medical equipment, as those things come into a child’s life for seating and positioning. Medications could frequently start to be prescribed for epilepsy, seizures, sleep, or for reflux. A parent may be worried about how these medications interact with one another. For example, if I give her epilepsy medication, and she already has disrupted sleep and has low muscle tone, well the adverse effects of those medications in an infant or a small child are very frightening. To think that your child might live from early childhood into adulthood having to take these intense medications is worrisome, and sometimes they don’t work. Frequently you must change them. Parents worry about whether their insurance will continue to cover the cost of these medications. They suddenly have to become an excellent case manager.

Your heart is broken watching what your child is going through, and your mind is spinning about what her future is going to look like, but you can’t get out of being rooted in her needs of the day, of having to make appointments. You worry that if you are referred for therapies, you may miss the appointments because of her evolving and complex needs, if she’s sick, or she sleeps through them. You’re worried that you’re going to get dropped from these interventions because she’s not making progress. But what you’re hearing from the community, and from other parents, is that maintaining skills is progress in Rett syndrome because it is a regressive disorder.

There’s a lot of fear and anxiety. You’re trying to struggle to keep your job, but it’s hard to keep a job when you can’t make it. You have to make all of these appointments during the day when most people have to be at work. It’s hard to find a preschool or a program that can take your child. You’re fighting to keep her in a typical classroom or community programs because you want that for her. She’s very social. Most children with Rett syndrome really enjoy being around people and thrive with other children around to stimulate them. And yet, those programs can’t always accommodate her needs. So you’re struggling to learn about education systems, medical systems, and therapies. It is a whole new language, and at the same time you’re worrying about maintaining the things that as parents we need to provide, which is shelter, and paying the rent, a mortgage, and keeping health insurance. The worries are endless, and you’re often left to think about those things at night because, again, her needs during the day are pervasive.

She’s reliant on you 24/7 for all of her needs, and as parents, we only want to give the best, but we often don’t know what that best is. Many times [proper care] can be denied because of an insurance problem or an authorization denial. Many times we experience that referrals for services, or a certain piece of durable medical equipment, or trying a new drug can be denied, and parents have to learn the art of appealing and reauthorizing. Many times, parents have to learn from other parents in this rare disease community that there’s a particular word that will get this medication approved, or this piece of equipment approved for funding. But if the provider doesn’t understand Rett syndrome and doesn’t know that specific word, then you think you’re being denied care rather than it just being a technicality, that there wasn’t something written in the report. Or you have a discussion in the exam room of how frequently you should be taking a medication, and when the prescription is written, it is not written exactly the way a pharmacy needs it written to be able to authorize.

So, you are anxious. You need to start a medication to try to deal with seizures that you don’t even know how to manage and you feel might be life threatening, and you’re spending time on the phone with the insurance company and with the pharmacist, not understanding that something was written incorrectly. Time is sacrificed, and when you’re trying to support a child with a complex disorder like Rett syndrome, the very thing you don’t have is time to waste. You often become the case manager for your child, but what you want to be is her parent. It’s complicated. It’s complicated, especially compounded if English is not your first language, or if you don’t live in an urban area where you have decent case manager support, or you are fortunate enough to have a wonderful pediatrician or wonderful pediatric neurologist, but they themselves are not familiar with Rett syndrome, and so they’re learning on this journey with you. All of these things require time and patience, and it’s the very thing that you don’t feel you have.

Transcript edited for clarity.