My daughter, Erika, is now forty years old so we have been in the Rett World for a long time. We had never heard of Rett syndrome until Erika was six years old, but neither had almost anyone else in the world!
In January of 1985 a friend called me on the phone and said , “I know what is wrong with Erika.” She had just read an article in the Sunday Globe newspaper. The article was about a meeting that had recently taken place at the Kennedy Krieger Institute in Baltimore. Dr. Andreas Rett, from Vienna, was there to visit the United States and to introduce Rett syndrome to this country. After I read about Dr. Rett’s visit and learned that he was returning to Baltimore in less than a year to meet once again with families, physicians and researchers, I was determined to be there with Erika.
At this second visit to Baltimore a group of girls and their parents were there to meet with Dr. Rett, to hear about this newly recognized syndrome and to learn if their daughters ﬁt the criteria for his syndrome. I say daughters and girls because at that time Dr. Rett had only encountered girls who ﬁt his description of Rett syndrome.Along with myself and Erika there were several other families from New England who attended that conference in Baltimore. There had actually been a few at the ﬁrst conference too.
At that second conference in the fall of 1985 there were about seventy families from all over the country and each brought their daughter. There were physicians, geneticists and other professionals from around the world in attendance. Dr. Rett’s theory that he had discovered a unique syndrome that had previously been misdiagnosed as autism or cerebral palsy or something else was gathering interest. He came to the US to spread the word and also to see if he could diagnose more girls who ﬁt the criteria he had established for his syndrome. The families were divided into groups. Each group was seen by a team of doctors who had traveled from all over the US and other countries to attend. My memory may not be exactly accurate, but I believe our team, in addition to Dr. Rett, included a doctor from Italy and New Orleans. I was asked many questions about Erika’s development, her medical history and all the usual questions we parents have grown to expect and to answer repeatedly. Erika was examined. After that Dr. Rett presented his opinion. He spoke in English with quite an accent. I believe there was also an interpreter present to help out. Dr. Rett said,”She is one of my girls.” He went on to say that Erika presents a classic case of the syndrome. He added that there is not much he could advise us to do except to “keep her walking.” I had explained that Erika had just started walking independently a year ago. He also said “his girls”love music and that they communicate with their “bright eyes”. These are the remarks I remember most clearly. Then the team moved on to another family.
We returned home and I felt that we now truly had a diagnosis, made by Dr. Rett himself! I still hear Dr. Rett’s words as Erika and everyone who works with her try to “keep her walking,” as we look into her“bright eyes” and know that she understands so much and as she smiles so happily when we remember to switch the radio to her favorite music station when we are in the car. Dr. Rett understood “his girls.”