How to Find Others With Rare Conditions

What to do when you are the first patient.

For many patients who have rare conditions with a suspected genetic cause, genome and exome sequencing are making diagnosis tractable for the first time. When sequencing identifies mutations associated with a condition, it saves years of arduous one-off gene tests. However, if sequencing turns up mutations of uncertain clinical significance, then a new kind of diagnostic odyssey unfolds.

Frequently, determining the mutation (or set of mutations) responsible for a condition has required functional studies. In functional studies, scientists examine cells or genetically modify organisms in an attempt to tie the mutations to the presentation of the patient.

Alternatively, if one can find a matching patient, then this costly laboratory work can be eliminated. Not long ago, finding a second patient required that such a patient find his or her way to the same physician, hospital, or research center. The Internet now gives patients the ability to connect directly online, and in this article, I’ll describe how you, as a patient or advocate, can do this.

Can the Internet Discover Diseases?
In the case of my son, Bertrand, sequencing revealed several mutations of interest. After considering each mutation, scientists at Duke thought mutations in his NGLY1 gene were likely responsible for his condition.

Yet there was a wrinkle: No other patient had ever been identified with a disease caused by this gene. We were fortunate: The scientists performed functional studies on our son’s cells, which raised our confidence that this gene was the cause of my son’s disorder. My wife and I then had to grapple with a question facing many these days: What do you do when you are the first patient?

To confirm the diagnosis and build a community, I created a blog post designed to find other patients like him. It worked. Even though we estimate that there are only some 500 patients worldwide who currently live with my son’s condition, we now have a community of 38 cases (after three years). The main idea behind Internet-driven patient-finding is to create a “reverse dragnet” to catch all of the other patients with the same disorder when they search for information online. So you want to make it easy for other patients to find you. Here are some ways to do that.

Set Up a Patient-Finding Website
Creating a website is the first step in finding other patients. The website need not reveal personally identifiable information as long as there is a way to contact you anonymously. A blog hosted on something like Google’s Blogger is a reasonable and simple platform for hosting a patient-finding site. Even a Facebook page may be sufficient to find more patients, although I encourage you to make this page public.

Create Content for the Patient-finding Website
The website should have a complete description of the patient, including all terms that researchers, physicians, or patients might type in while searching. Here are other things to include.

List all gene mutations of interest identified in a sequencing report. For each mutation, list both the gene name and the mutation in Human Genome Variation Society (HGVS) notation, and in both protein and coding-DNA form where possible. (Your genetic counselor should be able to provide and explain this information to you.) In addition, list any synonyms for gene names.

List All Symptoms, Past and Present
Use both medical terminology — like the standardized vocabulary provided by the Human Phenotype Ontology (HPO) — to describe symptoms, as well as corresponding terms that patients (or parents of patients) are likely to use instead.

    • Describe the history of the condition from birth, including all suggested diagnoses and all attempted and current treatments, procedures, and medications.
    • Describe the effectiveness of each treatment, procedure, and medication.
    • Include both expansions and abbreviations of medical terms, for example: aspartate aminotransferase (AST).
    • Make it easy for others to contact you. You may wish to create a dedicated email account so that you can list the address publicly, or use a web contact form.
    • Include the names of suspected genes in the page title, header, and body of the website. Gene names are the most effective for Internet-based matchmaking.
    • Include pictures (if you are comfortable doing so) to aid others in confirming matches.

Edit Wikipedia
Wikipedia regularly ranks near the top of search results for gene names, so the pages on genes are an ideal place to insert information about a mutation under suspicion. Inserting information about the possible clinical significance of the gene that references your site will increase the chance that a patient, parent, or researcher searching for the same gene will find the site. Remember to update Wikipedia if confirmed: Change the correct page to confirm the disorder, and remove the information from the pages for genes that did not match.

Set Google Alerts
Google Alerts provide a way to continuously search the Internet for a given term. When a new page matching the alert term pops up on the web, Google will email you. Set an alert for all gene names of interest, the specific mutations of interest, and all rare symptoms. If another patient sets up a similar website, this will bring you to them.

Buy Google AdWords
Buying Google AdWords on the name of the gene and rare symptoms can help. Gene names and rare symptoms are often cheap on AdWords, and they push your site to the top of search results.

Use Gene Names for Domain Names
Google gives increased weight to a site if the search term appears in the domain name. Buying a domain name for the gene name, for example,, is an effective way to rank more highly for the gene when others search for it.

Search Standard Registries
In addition to the Internet, there are a number of registries available for searching and reporting cases with the goal of finding a match, including ClinVar, PhenomeCentral, Decipher, and MatchMaker exchange.

Confirm Matches
Finally, when other patients reach out, it is important to vet potential matches. Your genetic counselor can help ensure that genetic information and symptoms form a convincing match.