This exhausting process can grind on for years. "It's like running a marathon, finishing, then turning around and immediately beginning again," says , Ph.D., director of the Mouse Repository and the Rare and Orphan Disease Center at The Jackson Laboratory.
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:
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.
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: