Foreword

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In this month’s issue, Dr. Gabrielle Gold-von Simson provides us with an in-depth exploration of a rare disorder, familial dysautonomia (FD). The Familial Dysautonomia Treatment and Evaluation Center at the New York University Medical Center (founded and directed by this month’s senior author, Dr. Felicia Axelrod, and also the site where Drs. Gold-von Simson and Axelrod care for their patients) maintains a registry of patients with established diagnoses of FD. There are currently 608 patients in the registry, a number that is felt to represent approximately one-third of all known cases worldwide. One would think that a disorder with such a low prevalence would be pretty “low on the totem pole” when it comes to resources for advocacy and scientific discovery. However, that is the funny thing about “orphan” or rare diseases—they often serve as unique opportunities to further our understanding of normal physiologic processes and of other, more common disorders. In the case of FD, a foundation was established for advocacy in 1951, only 2 years after the disease was first described by Riley and Day. Within a 50-year time span, supportive treatments for FD have been developed and refined, long-term survival has increased, understanding of hereditary sensory and autonomic neuropathies in general has expanded, and the gene for FD has been located (1993) and precisely mapped (1999; to chromosome 9q31).

As readers of Current Problems in Pediatric and Adolescent Health, we will have an opportunity this month to learn about a rare disorder in great detail. However, as pediatricians caring for a broad range of patients, it is also our responsibility to know how to help patients with rare disorders and their families without necessarily being experts in their detailed management. Some useful resources can be found by exploring the web site of the National Organization for Rare Disorders (NORD), a nonprofit, voluntary health agency that exists to serve patients with rare diseases and their families. On their web site, it is currently possible to access a database containing information on more than 1150 rare diseases. For example, a search for FD on the NORD web site revealed a list of five different advocacy and research organizations with contact information of use to patients, families, and medical providers. Following some of these links quickly led to additional information on current research, fundraising, support groups, etc.

After reading this month’s issue, I think you will agree that familial dysautonomia is a very pertinent example of the advances in understanding, treatment, and advocacy that are possible even for rare disorders that may not draw much public attention.