The National Fragile X Foundation — 1984: The Beginning

By Robby Miller

This year the National Fragile X Foundation is celebrating its 40th anniversary! It’s hard to believe we have already spent 40 years serving the Fragile X community -families living with Fragile X, their loved ones, and professionals alike- and I think I speak for our entire team when I say we look forward to serving the community for the next 40 years (and more!). As a tribute to the organization’s rich history, we are cataloging our journey in monthly blog posts. We have so many people and institutions in our history it’s hard to capture them all, but we will certainly do our best. Join us as we walk down memory lane, memorializing how the National Fragile X Foundation got to where we are today so we can dream together of the brightest possible tomorrow.

– Hilary Rosselot

At the beginning of the 1980s, a young developmental pediatrician, Dr. Randi Hagerman, was building a career at Children’s Hospital Colorado. Her curiosity led her to some of the early papers on X-linked intellectual disabilities (in particular, those of Dr. Gillian Turner from Australia) and descriptions of what was still often referred to as Martin-Bell Syndrome.

Realizing the importance of this newly described syndrome, and the need for diagnosis and treatment, she and colleague Dr. Penny McBogg–McKenzie began large-scale copying and mailing of articles to other doctors and families around the country. (Remember — this was well before the advent of the internet and email!) In fact, so much copying took place that hospital administrators stepped in and said enough! As a result, Dr. Hagerman realized that a national organization, independent of the hospital, would be necessary.

Dr. Hagerman had seen her first patient with what was now being called Fragile X syndrome (FXS) in 1980. As her interest grew, it wasn’t long before the number had grown to more than 20 within that first year! Knowing that families and other professionals needed to become aware of this previously little-known syndrome, she and Penny edited the first book on Fragile X syndrome in 1983. Work began that same year on forming the national organization.

In 1984, the National Fragile X Foundation (NFXF) was officially launched when the federal government accepted the nonprofit incorporation papers submitted by pro bono attorney Bob Wyler, a longtime friend to Dr. Hagerman and publisher of the first book on Fragile X syndrome through Spectra Publishing Company.

At first, and for years to come, all planning and work was done strictly by volunteers who, in addition to Dr. Hagerman and her colleagues at the hospital, included graduate students in psychology from the University of Colorado. In addition, the existing “cytogenetic” testing for FXS was expensive and very time consuming for laboratory staff. As a result, there was a reluctance to have it done, leading to a diagnostic challenge that continues to this day!

In next month’s blog post, we’ll be talking about the struggles to keep the organization afloat in the early years from the late 1980s and well into the 1990s.