Paige Nues: The diagnostic journey for someone with Rett syndrome can vary from child to child, but in general, when dealing with classic Rett syndrome, most of the time parents suspect something is going on with their child. Symptoms can occur anywhere from as early as 6 months of age to 1 to 3 years of age. Parents go to their pediatricians [for help], and in my case, I started telling our pediatrician that I suspected something was going on with my daughter, Katie, at about 6 months of age. She reassured us that she didn’t appear to be different from the other patients in her practice and that all kids develop differently. She measured her head circumference and said that it was not necessarily an indicator of anything abnormal. Katie wasn’t falling off the curve and the pediatrician reassured us, as first-time parents, that everything was fine. However, at each visit I repeated, she’s just not the same as other babies. It wasn’t until she was about 1 year old that our pediatrician agreed that Katie might not be meeting her milestones—her gross motor milestones—even though her fine motor skills [were progressing]. She was developing, cooing, laughing, interacting, and social in the same way as other babies, so [I thought] maybe she hadn’t quite caught up. The pediatrician gave us a referral for some therapies and referred us to a neurologist and a geneticist. We…had many tests done. During that process, Katie continued to lose skills. In the short visits we had with practitioners, they started to see the things that I had been seeing for months. What can happen is that well-intentioned pediatricians, who don’t see delays in an infant within a 15- to 20-minute appointment, are trained to be reassuring, but parents know…when something is wrong, and so the diagnostic journey is very scary when you know in your gut that something is not quite right. This is especially true if it’s your second or third child and you are an experienced parent who knows that disrupted sleep or spitting up after feeding can be common symptoms of Rett syndrome. [It’s exacerbated] when, at one time, your child was playing with toys, picking up food and Cheerios, turning pages in books, and reaching out to swat toys to make music and lights play, and has now stopped doing those things. Maybe she’s able to roll over and sit up, or sit up and army-scoot across the floor, but isn’t able to pull herself to stand. These are things that [might indicate] something’s not quite right.

Many times, practitioners will reassure you rather than send you for referrals. Once they get on board, though, a lot of tests happen. Frequently, families are given a diagnosis that is not exactly Rett syndrome, but it kick-starts referrals for therapies, early intervention, or for other exams. For example, maybe the diagnosis will be autism, cerebral palsy, pervasive developmental delay (PDD), or intellectual or developmental disability (IDD). Those are generic diagnoses and they will get you started with services…but as a parent, you’ll read the definitions of these disorders and you’ll think, that’s just not the right fit. Parents really must advocate for their child who is losing skills right before their eyes. Perhaps they’re losing their speech; or maybe they’re losing gross motor skills such as turning over, sitting up, pulling to stand; or they’re not initiating a crawl, but when [an adult holds] them up, they’ll initiate steps. These things are not normal developmental sequences for an infant.

Transcript edited for clarity.