How to find a specialist for a birth defect or rare disease

Contemplative woman with babyWe often receive inquiries from individuals asking for help finding information and resources for their child’s particular birth defect or medical condition. If a baby or child has a rare disease, the family may have an especially difficult time finding a specialist who is experienced with the disorder.

Here are some organizations that offer resources:

  • The Genetic and Rare Disease Information Center  – “GARD” provides links on how to find a disease specialist, a treatment center, a genetics clinic, researchers, and finally how to navigate the process of trying to get your child diagnosed.
  • The National Organization for Rare Disorders  – “NORD” maintains a database of diseases and provides detailed disease explanations and support group resources to patients and families.
  • Disease Infosearch (part of Genetic Alliance) – They provide disease information as well as support group resources.
  • The NIH Undiagnosed Diseases Program – This is an invitation-only program for patients whose conditions “have eluded medical diagnoses.”

With any condition, finding the appropriate health care provider may make all the difference in the world. We suggest that families speak with their child’s health care provider and specialist so that together, they can establish the best course of treatment for their child.

Have questions? Send them to [email protected].