“We are all now connected by the Internet, like neurons in a giant brain.” —Stephen Hawking
“We don’t heal in isolation, but in community.” —S. Kelley Harrell
The Internet has the power to connect families with rare diseases to one another; to serve as a bridge across oceans when families may feel as isolated as an island surrounded by a sea of uncertainty. The support organizations and resources available online provide a sense of hope, community, and togetherness that is often lacking for families when initially faced with a rare disorder diagnosis. The speed with which new gene-syndrome associations are discovered is only matched by the speed in which a new support organization for that condition is formed. Therefore, this chapter will review some of the available Internet resources for genetic syndromes available today, with the caveat that these resources are a mere glimpse of what is currently available.
HISTORY OF GENETIC SUPPORT AND ADVOCACY GROUPS
In the late 1970s and early 1980s, patients and families living with rare diseases felt alone and forgotten. Little was being done to study these diseases or develop treatments. Leaders of several rare disease patient organizations formed an ad hoc coalition to focus attention on this problem. That coalition became the National Organization for Rare Disorders (NORD) and was instrumental in the Orphan Drug Act of 1983, which created financial incentives for the development of treatments for rare diseases (NORD Web site: www.rarediseases.org).
By the mid-to-late 1980s and 1990s, disorder-specific and general advocacy groups were becoming key components of the genetics network. These organizations engendered partnerships among patients, families, and healthcare providers that facilitated communication and enabled more rapid dissemination of information and pathways to research. These groups continue to provide powerful resources that pediatricians can offer to their patients while still providing the foundation for which they receive their primary care. Joan Weiss, founder of the Alliance for Genetic Support Groups, believed that “those working within the walls of the pediatric clinic are in a crucial place to address the comprehensive needs of families with genetic disorders and to identify the role of the genetic support group in a treatment plan.”
The growth of genetic support groups and resources for genetic conditions prospered with the parallel growth of the Internet in the late 1990s and 2000s. One example of the benefit of this unexpected union was the launch, partly in response to advocacy from NORD and others in the patient community, of a new Web site by the National Institutes of Health (NIH) that provided an overview of current clinical research trials available to patients with various genetic and rare disorders (www.clinicaltrials.gov). This repository and the information gleaned from it often serve as a beacon of hope for families affected by rare disorders where disease management and treatment, in the typical sense of the word, ...