Paige Nues: Often, a pediatrician may not be familiar with something as complex as Rett syndrome, but they’re responsible for making referrals and helping families find a specialist, such as a pediatric geneticist, a pediatric neurologist, or a developmental pediatrician. If a family lives in an urban area, they might benefit from going to an academic hospital where…genetic testing [might be obtained] sooner. Doctors who have treated patients with Rett syndrome can more quickly identify the things that parents commonly report, such as: “She used to do this, and now she doesn’t do that.” That can be [useful information] to someone who’s familiar with Rett syndrome. If families live in a rural area or are not near an academic center where practitioners have had exposure to Rett syndrome, the diagnosis [may be more difficult to obtain]. Maybe their physician will order a genetic panel, but they won’t include Rett syndrome, or they won’t ask for whole exome sequencing. The child might live for a number of years with a misdiagnosis.

Recently, I had a new family come to our foundation. Their child was 10 years old and had just been diagnosed with Rett syndrome, but she had displayed the classic symptoms from the age of 1. She didn’t have the benefit of someone who was familiar with the syndrome to be able to pick up on it or to do the right research. The time lapse from when you know something is wrong with your child to when you get the correct diagnosis can feel like an eternity. You’re worried that perhaps it’s hereditary…is it something I gave to my child? You worry that it’s the food you’re feeding them or not feeding them, or that it’s something in the air or in the water, and you feel scared and helpless because you don’t know exactly where to turn or how to help…and when you finally get the answer, it may not be delivered in the right way, which can compound your feelings of fear, anxiety, or worry, especially when the doctor says, “Please don’t read about this on the internet.”

But sometimes accurate information is the most reassuring thing. It may not be the answer you want, to have your child diagnosed with Rett syndrome, but it brings you into a community of other families who are dealing with this rare disease. Getting accurate care guidelines can help your child start getting the proper intervention. It gives you a direction. A door closes but a window opens. It doesn’t help when someone says, we’re going to test for Rett syndrome, but we don’t think that’s what it is, and you don’t want that to be the diagnosis. Then when the diagnosis is Rett, it can make you feel even more devastated. [A better outcome is] having your genetic counselor or the pediatrician do some research and come to you with optimism and say, “There’s hope. There are clinical trials underway. We do understand the history of this disorder and I’m going to walk with you and help you, your child, and your family navigate. We’re going to help you get the right equipment, the right services, the right therapies, the right interventions, [even though] we don’t have a cure right now.”

That’s a very different perspective, and the trust you’ll have in the doctor that is going through the journey with you is very different if they come to you with hope and optimism, rather than with sympathy and fear. [Without that trust,] you’ll be concerned that you understand this complex neurologic disorder better than the physician who is licensed to take care of your child. Because the onset of symptoms can be slow and your child was not born with these symptoms, you thought you were taking home a typical healthy child and then, in the privacy of your home, you’ve begun to see things slip away. You’re seeing skills diminish and you’re living with fears [that keep you up at] night. It could be a couple of years before you get the ultimate diagnosis, and that’s difficult. Symptoms continue and you don’t know why. Most families don’t come to this journey with any medical background. Then suddenly you’re thrust into a world where, once the diagnosis is made, you must find a gastroenterologist and an orthopedic specialist and a neurologist. Suddenly, you need to enroll your child in many therapies and you don’t know what is involved for occupational therapy, physical therapy, or language pathology for an infant or a child. You’re watching their language evaporate, yet you’re working with an early interventionist or a speech therapist who has never heard of Rett syndrome and they don’t know how to get started. It’s a very difficult and lonely time. If you have a child with a rare disease, you typically don’t have anyone else in your neighborhood whose child is experiencing the same trajectory; you’re expected to be the expert on your child, but you don’t fully understand what’s happening to her.

I would say that’s the typical diagnostic journey—it’s the point in time where, as a parent, you know something’s not right, but you don’t know exactly what it is or how to articulate it. Because the onset of symptoms can be so slow, there is often a time when the pediatrician or specialists seem to dismiss your concerns. You want to believe them, but you know it’s not true. No parent wants their child to be diagnosed with anything incurable, but [with Rett syndrome], most parents know something is wrong well before a doctor does.

Transcript edited for clarity.