Rett Syndrome Awareness Month officially ends today, but we encourage everyone to continue to learn more about this genetic disorder and support this amazing
community which includes families such as the Gunns and the Croissants . We continue our research and clinical care and are excited to
also share information regarding a new book on the subject.
Dr. Walter Kaufmann , Director
of the Center for Translational Research and Ravenel Boykin Curry Chair in Genetic Therapeutics at the Greenwood Genetic Center, has edited a book
on Rett syndrome. The book, Rett Syndrome, is part of the Clinics in Developmental Medicine Series from MacKeith press.
This book is aimed at clinicians and researchers as an overview of the clinical and genetic features of Rett syndrome as well as current status of therapies.
Dr. Kaufmann discusses the book below.
Makayla was diagnosed with Rett Syndrome in April of 2015 at the age of two. At about 18 months, we noticed she had started some repetitive hand
motions, and her pediatrician was a little concerned that she did not have many words. She had learned some sign language, and was saying ‘mama’
and ‘dada’, but that was it. Then she suddenly stopped all of that. At her 2 year old check-up, the pediatrician referred us to BabyNet,