Raising Awareness for Rare Diseases


Image courtesy of Global GenesRare Disease Day was introduced in 2008 to raise awareness among the public and decision-makers about rare diseases and their effect on patients, their families and our society. Even though each individual rare disease is uncommon, together they affect 30 million Americans and 350 million people worldwide. Global Genes, a rare disease advocacy group, helps put this into context. If everyone with a rare disease lived in one country, it would be the third most populous country in the world after China and India. This would also be a very young country as about 50 percent of those with rare diseases are children. Most rare diseases first appear in childhood and sadly, 30 percent of children with a rare disease will not live to see their 5th birthday.

The Genetics of Rare Diseases

Approximately 80 percent of rare diseases are genetic in origin and many individuals with rare diseases go through what is referred to as the “diagnostic odyssey.” They spend years visiting multiple physicians, getting poked, prodded and studied and often getting the wrong diagnosis more than once. The lack of a diagnosis not only delays finding the best medical path, but hinders answers and information for the person and his or her family. Not surprisingly, this can take a significant financial, physical and psychological toll. In a 2014 blog post, “Solving the Mysteries of Undiagnosed Disease,” I highlighted the advances the genomics community is making in diagnosing individuals with rare and undiagnosed diseases using whole exome and whole genome sequencing. These tests have dramatically improved the number of diagnoses in this population, helping more families get answers. And now entire nations are creating programs to make this technology available, like Genomics England who just announced its first successes in diagnosing children with rare diseases using whole genome sequencing.

Connecting Patients and Families

After genetic testing, parents may find that their child is the only one with that diagnosis and that more cases are needed to enable research or treatment. Now they take the next step of finding other families and building a community. When your child may be one of only dozens or hundreds in the world with the condition, it can seem like a daunting task.

There are many initiatives like RareConnect and Matchmaker Exchange that help connect families. The digital world also enables many parents to use the Internet and social media to find these communities. Matt and Christina Might are parents who experienced the power of social media in building a community. Their son Bertrand has a rare disease and they were on a diagnostic odyssey. A likely genetic cause was found through whole exome sequencing but the Mights were told they needed more families to make treatments an option. Through social media, Matt sought children with similar symptoms to his son's and wrote a blog post designed to find other families. Just five days later, a geneticist contacted Bertrand's physician to let him know that two siblings in Turkey had the same genetic finding and the Mights have found dozens of families since. Through this process, the Might family gained a community and identified opportunities for research and treatments. They also are teaching other families how to use the web to make connections, including Matt’s recent article in Genome Magazine called “How to Find Others with Rare Conditions.

How Can Genetic Counselors Help Families with Rare Diseases?

If you or your child has a rare disease and you are searching for a diagnosis, genetic counselors can discuss the best options for testing, navigate insurance coverage and help explain test results and the implications for your family. Genetic counselors also have wide networks and can connect you to the services listed above and to other families. To find a genetic counselor in your area, go to NSGC’s “Find a Genetic Counselor” tool.


For more information on Rare Disease Day and to find events in your area, visit:

To learn more about families that made rare disease connections, read Decoding Massimo by Leah Kaminsky (The Australian) and One of a Kind by Seth Mnookian (The New Yorker).

Erica Ramos, MS, CGC, is the President of the National Society of Genetic Counselors and a personalized medicine expert. She is the Associate Director of Market Development at Illumina, Inc. in San Diego.

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