Featured Article April 18, 2021

Navigating the rare disease odyssey

A family silhouetted on an artistic rendition of a mountainous landscape

A rare disease odyssey, a phrase coined by families and medical professionals affected by rare diseases, is the long, complicated road that families fighting rare disease must travel.

This exhausting process can grind on for years. "It's like running a marathon, finishing, then turning around and immediately beginning again," says Cat Lutz, Ph.D.The primary research goals of the Lutz lab involve developing preclinical mouse models of neurodegeneration to test therapeutics and inform clinical trials. Cat Lutz , Ph.D., director of the Mouse Repository and the Rare and Orphan Disease Center at The Jackson Laboratory.

Advice on navigating the rare disease odyssey 

Everyone's rare disease odyssey is as unique as the illnesses themselves. The nuances will vary, but experts and rare disease families have offered the following advice in broad strokes:

  • Start services early. If a child isn't reaching milestones or has begun to regress in some way, seek help and start basic services, such as dietary restrictions, physical therapy, or occupational therapy. These services are relatively low-impact and can often help someone out regardless of a pending rare disease diagnosis. 
  • Push for a diagnosis as soon as possible. After (or while basic) services are in place, it's important to push for a diagnosis. Ask about exome sequencing, and don't accept "no" without an explanation. Researchers such as Lutz cannot recommend exome sequencing enough for very concerned families. Many doctors may not be aware of cutting-edge research in every area, so the quicker you can get to a specialist, the better.
  • Immerse yourself in knowledge. The more you know, the more you can help your loved one through the path of the odyssey. Conduct online research and reach out to experts. Send emails to doctors and specialists in the field of your rare disease. Somewhere there's a clinician who will be eager to help. A deeper understanding of the rare disease will guide the path toward future research and potential treatments.
  • Find your community. Don't go it alone. Community support is key, and the rare disease community is a robust one that encompasses all rare and orphan disorders. Find people who can lend you support (in-person, online, or a combination), whether it's a direction for treatment questions, fundraising opportunities, additional helpful resources, or just a shoulder to cry on. Many of the families we interviewed expressed joy and relief at the helpfulness of close friends and relatives once the diagnosis came to light.  

In terms of treatments, Lutz is quick to point out that we are at a point where doctors are diagnosing more rare diseases than ever, which is difficult news to hear but also beneficial. 

The hope of rare disease research 

It's difficult because the medical community at large has not had enough time to react and develop treatments for the hundreds of rare diseases that are newly diagnosable. It is beneficial because it's only a matter of time until treatments become available, especially with how rapidly medical science is developing. 

"There's more hope now than there was before," says Lutz, "Families are connected better than ever, and more and more research is being done. That being said, it can't come fast enough: you have to keep moving forward. It may not make an immediate difference for an individual, but it can help the greater good." 

"The rapid research-driven technologies have dramatically increased our ability to make a laboratory-based diagnosis- from 2-3% of cases in the 90s to know as high as 35% of cases depending on scenario," Brendan Lee, M.D., Ph.D., Professor and Chairman, Department of Molecular and Human Genetics, Baylor College of Medicine reports. "Because of the rapid growth of technologies and expertise because of the country's investment in rare disease research, never give up your search. Even if the most detailed studies are uninformative now, our knowledgebase and technology base is growing so fast that we may be able to come to a diagnosis in one or two years." 

Lee also warns that these advances don't come for free.

"The single biggest factor in changing and shortening the rare disease odyssey has been investment into research and training by the NIH and other funding agencies. Only via research can we advance, and we have been lucky that our government has recognized this. We need to all continue to advocate for this investment in the future." 

The Jackson Laboratory would like to thank the many rare disease families and experts who contributed to this article: