A familiar Rett syndrome story from Normalville

An unexpected four-day hospital stay with one of our girls reminded us of the need for more awareness of Rett syndrome. Doctors and nurses who were totally unfamiliar with Rett syndrome had difficulty understanding the nuances of our child’s condition. As such, her care was compromised and she had to stay much longer than perhaps was necessary. Medical professionals could not readily grasp her medical needs and how to best care for her. They simply lacked any understanding of what is “normal” for a person with Rett syndrome.

Upon our child’s return home from the hospital, things began to return to “normal” in terms of our day-to-day routines. As things started getting better for us, this well-written article about a young child with Rett syndrome from Pennsylvania caught our attention. Erika Miller is a two year-old girl with Rett syndrome who lives in Normalville, Pennsylvania, a town of about 3,000 people located southeast of Pittsburgh. 

Erika’s story is all-too-familiar for those of us caring for a person with Rett syndrome. The article provides a solid perspective on the challenges of pursuing a diagnosis, solicit services and supports, and caring for a person with Rett syndrome. Here are some points from the article that most of us can relate to:

• Erika seemed fine and developed like most babies her age until the age of one.
• Erika lost her ability to pickup Cheerios with her hand and put them in her mouth.
• At around six months Erika’s head growth and overall weight gain slowed, but a doctor assured her parents at that this was not uncommon.
• Early intervention Occupational therapy services were denied because “her hands were still functional”.
• The Children’s Institute in Pittsburgh denied services to her at their facility because they her goals were “not measurable”.
• Erika could need a feeding tube because she has only gained four pounds in the last 20 months.
• Erika has lost her ability to talk and use her hands, but doctors believe she understands a lot more than she expresses.
• Erika underwent more testing at the Kennedy-Krieger Institute in Baltimore, where an abnormal EEG suggested she was at risk for developing seizures.
• While Erika receives several therapies to treat her symptoms, including horse riding therapy (hippo-therapy), insurance won’t pay for things like hydro-therapy that her therapist recommended.
• Erika’s parents first learned of Rett syndrome from a medical professional other than their child’s primary care doctor. Erika’s dentist first mentioned the possibility of Rett syndrome because of her hand-wringing. Interestingly, Erika’s dentist had a brochure about Rett syndrome on hand to give to her parents.

I am not sure if the last point about the dentist having a brochure about Rett syndrome on hand would be considered “normal”. Let’s hope that in time all medical professionals will be so well-informed and well-equipped with information for their patients.

For the most comprehensive look at Rett Syndrome we urge you to consider The Rett Syndrome Handbook, from the International Rett Syndrome Foundation.

 

Comments

[chris]

I think it is imperative that ALL hospitals, and pediatricians obtain The Rett Syndrome Handbook.

This book is like a crash course for rett syndrome, or "Rett 101" i call it. Informative is the best word to describe the handbook.

It would be nice if you didn't feel like you were speaking a different language, when explaining to doctors and nurses what Rett Syndrome is...we as parents shouldn't have to, and wouldn't have to if more physicians had this handbook.

If i had access to enough handbooks i would give them to as many pediatric physicians i could find, it would be a start anyway.
These are our angels, do whatever it takes.

proud father of hannah.