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Feature:
Rare Diseases

Putting A Face On Rare Diseases

Fast Facts

  • In the United States, a rare disease is generally considered to be a disease that affects fewer than 200,000 people. Rare diseases are sometimes called orphan diseases.
  • There are more than 6,500 rare diseases. Altogether, rare diseases affect an estimated 25 million to 30 million Americans.
  • The exact cause for many rare diseases remains unknown. For a significant portion, the problem can be traced to mutations (changes) in a single gene.
  • Treatments for rare diseases are available for more than 200 of them at the present time.
  • To find a rare disease specialist, start at https://rarediseases.info.nih.gov/resources/pages/25/how-to-find-adisease-specialist.

    —Source: Genetic and Rare Diseases Information Center (GARD)

Patricia Weltin says that her efforts to shine a light on rare and undiagnosed diseases is best expressed in the words of the late Swiss artist Paul Klee: "Art does not reproduce the visible; rather, it makes visible."

Patricia Weltin (center) and her daughters, Olivia and Hana (left and right), who have a rare and potentially dangerous disease, Ehlers-Danlos syndrome.
Photo Courtesy of: Patricia Weltin

That has been Weltin's goal since she founded the non-profit Rare Disease United Foundation (www.rarediseaseunited.org) and began putting together the "Beyond the Diagnosis" traveling art exhibit—a collection of original paintings of children, each with a rare disease.

Weltin, a single parent who lives in Rhode Island, has two daughters with a rare and potentially dangerous disease, Ehlers-Danlos syndrome (EDS), a connective tissue disorder causing joint dislocations, tooth loss, and numerous other symptoms. EDS comes with life-threatening comorbidities like Chiari malformations, which are structural defects in the cerebellum, the part of the brain that controls balance.

In reaching out to other families who have children with rare diseases, she discovered that many of them feel invisible and isolated, as she did. But, altogether, there are between 25 and 30 million people in the United States with any one of more than 6,500 rare and/or undiagnosed diseases.

"It has become a global movement," Weltin says. "I haven't really called anyone. But CBS News found out about it and has recorded a segment for a couple of news shows. The exhibit will go to London in October."

Rare Disease Day

Aims to Maximize Chances for Cures

Aidan (center), with his father, younger brother, mother, and Rare Disease United Foundation CEO Patricia Weltin, has the rare disease ectodermal dysplasia. It is an inherited disorder that involves defects in the hair, nails, sweat glands, and teeth. The ectoderm contributes to the formation of the lens of the eye, parts of the inner ear, the fingers and toes, and nerves, among others. Ectodermal dysplasia may cause these parts of the body to develop abnormally. Aidan, his family, and Weltin attended the "Beyond the Diagnosis" art exhibit at the NIH Clinical Center on Rare Diseases Day. His painting is by artist Nan Kruzik.
Photo Courtesy of NCATS

Rare Disease Day takes place worldwide on the last day in February to raise awareness among policymakers and the public about rare diseases and their impact on patients' lives.

Each year, the National Center for Advancing Translational Sciences (NCATS) and the NIH Clinical Center sponsor Rare Disease Day at NIH as part of this global observance. Since 2010, the slogan for NIH's event has been "Patients & Researchers—Partners for Life."

This slogan aligns with NCATS' philosophy that researchers must work closely with patients, families, caregivers, and advocacy groups to maximize the chances for success in advancing rare diseases research. This philosophy has been put into practice in NCATS' Rare Diseases Clinical Research Network and the Therapeutics for Rare and Neglected Diseases program, among other efforts.

The European Organisation for Rare Diseases (EURORDIS) is the voice of 30 million people affected by rare diseases throughout Europe. EURORDIS is a non-governmental, patient-driven alliance of patient groups representing 705 rare disease patient organizations in 63 countries.

Read More "Rare Diseases" Articles

Putting A Face On Rare Diseases / "Beyond the Diagnosis" Making the Invisible Patients Visible / On the Front Lines of Rare Disease Research

Spring 2016 Issue: Volume 11 Number 1 Page 16