Experiences with Rett Syndrome Described as ‘Obstacle Course’ by Caregivers, Study Shows

Rett syndrome has a significant impact on the lives of those living and caring for children with this complex disorder, with caregivers likening it to an “obstacle course,” a study shows.

Healthcare systems and health policies should take these findings into consideration to help improve the outcomes of those affected by this rare disease, the researchers suggest.

The study, ““Living an Obstacle Course”: A Qualitative Study Examining the Experiences of Caregivers of Children with Rett Syndrome,” was published in the International Journal of Environmental Research and Public Health.

Rett syndrome is a genetic disorder characterized by several neurological and developmental impairments with onset occurring during early infancy.

Symptoms include a decline in head growth, abnormalities of gait, loss of hand movements, which are invariably replaced with repetitive movement, loss of speech, and respiration difficulties. Its clinical presentation can be worsened by the development of comorbidities, or coexisting conditions, such as epilepsy, gastrointestinal disorders, and scoliosis (spine deformity).

This disorder is highly complex and varies significantly between affected children, particularly regarding the social, physical, and communication challenges they face. Rett syndrome is generally associated with a heavy burden that can significantly affect the quality of life of the children who have the disease as well as those caring for them.

A team of Spanish researchers in this study examined the experiences of a group of 31 caregivers of children with Rett syndrome with regard to living and caring for their children.

“The experience and individual perspective of the caregivers concerned is relevant, just as one’s life experiences, ambitions and emotional needs should be considered when treating children with Rett syndrome,” the researchers wrote.

The team collected information through in-depth interviews and focus groups as well as from caregivers’ personal documents.

Data revealed that the caregiver perceived living with their child with Rett syndrome as “being akin to facing an ‘obstacle course’ …, where they must continuously overcome hurdles.”

Many of their struggles were related to three main themes: finding explanations for their child’s symptoms and reaching a diagnosis; managing the treatment and daily care required to achieve the best outcome possible; and finding the necessary financial resources to meet all the expenses related to the disease.

The study found that, in most of the cases, mothers were the ones who identify the first symptoms of the disease. Still, many caregivers reported they had difficulty identifying symptoms of alarm in their children in the early stages of the disease. This may also contribute to the difficulties faced in confirming a final diagnosis.

Due to these delays or a lack of diagnosis, the families often sought information from specialist doctors, at first avoiding an internet search.

“I am criticized for searching the internet, but they don’t realize, we need up-to-date information quickly, we can’t wait. Waiting means delaying treatment. The diagnosis is a priority,” said one of the parents.

The continuous need for medical checkups can have a significant impact on a family’s routine. In addition, the caregivers noted serious concerns on ensuring the proper pharmacological treatment and its administration to control the symptoms as well as on using alternative strategies to stimulate their child. Complications associated with Rett syndrome, such as malnutrition, dehydration, and infections, were also a main concern for them.

“The families must reorganize their life and focus on a child with physical, cognitive and communication difficulties,” the researchers wrote. “Caring for a child with RTT [Rett syndrome] therefore requires multiple skills which, at times, may overwhelm the caregivers.”

There is a need for the development of a joint working relationship between the affected family and health professional to help caregivers not only cope with stressful situations but also learn how to care for their child.

“Our findings shed light on how RTT may impact the lives of the caregivers of children with RTT with important implications for clinical practice,” the researchers wrote.

“These data could be useful for informing how clinicians counsel families at diagnosis, drawing upon aspects of life, such as treatment and care administration, health problems management, and economic resources management,” they added.