Treatment Burden Associated with Rett Syndrome


Patients and families facing a Rett syndrome diagnosis experience an array of burdens.

Paige Nues: The treatment burden of Rett syndrome is complex. It’s one of the most pervasive, severe neurologic disorders to affect females. While that’s easy to say, it’s difficult to live with. Most parents are young; they’re working; they are taking care of their child with Rett syndrome, [as well as their] other children; and juggling all aspects of life. [When their child is diagnosed,] they’re quickly thrust into a world of seeing multiple specialists. Things that are common in Rett syndrome include: when a childprimarily loses all verbal speech; when her motor skills are impaired, or she has no fine motor skills; when she slowly loses the ability to manipulate toys; and when she [is unable to] learn sign language. Children who have Rett syndrome don’t learn how to write either, so communication impairment is severe. It’s frustrating for children to go through that experience and [there may be], months, even years of frustration and crying, with disrupted sleep. Also, GI [gastrointestinal] symptoms tend to present during the diagnostic period. The child may experience severe constipation or severe reflux. Also, the ability to chew and swallow might become difficult and choking and aspiration can become a risk factor. Developmental delays…lead to referrals for early intervention and, hopefully, therapies such as physical therapy, occupational therapy [OT], and speech language therapy, and having all of these new providers come into their lives [is essential], but the child might [also] experience some medical complications. She might have her first seizure, she might start to tremor, or grind her teeth. Again, not being able to hold or manipulate toys or communicate what hurts is difficult. Sleep…cycles are completely disrupted.

So, one day the child might be able to do her therapies, but the next day she can't. Parents often can’t find typical daycare or childcare for their child. They must run around scheduling the multiple appointments that need to happen. They may not spend as much time with the genetics counselor anymore, for example, [as there is a sudden need to see the] gastroenterologist more often, or the pediatric neurologist, for sleep problems, or for crying. Parents don’t know if their child has a headache or a cramp in her foot. They don’t know if it’s emotional distress or a physical ailment. Pediatricians often are limited to a 15- to 20-minute visit, which is not long enough for an examination of a child with Rett syndrome. [With this condition], what could start out as a simple cold could rapidly develop into pneumonia and require admission to a hospital due to hypotonia and low respiratory function. This could be caused by aspiration. Suddenly parents are seeing so many specialists, and it becomes hard to keep up with work and the other responsibilities of life. They may feel alone if they don’t have somebody to help coordinate care.

Transcript edited for clarity.

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