Rare Disease Patients Need A Roadmap 

When diagnosed with a rare skin disease, patients need more than Drs Google and Yahoo.  

Whether intentional or not, patients diagnosed with a rare skin disease are routinely referred to the internet for self-guided, unsupervised research. Too often, resorting to Drs Google and Yahoo results in information that is outdated and written for an audience of healthcare professionals, not patients and their caregivers. The experience can compound the fears of an already fragile patient—at the very moment we need hope and confidence.

What should these recently diagnosed patients expect from their dermatologist? First, we should not expect dermatologists to be as familiar with a rare skin disease like pityriasis rubra pilaris (PRP) as they would be with psoriasis. The PRP patient population in the United States is just over 800 compared with 7.5 million suffering from some form of psoriasis. Similarly, we cannot expect dermatologists to be as familiar with rare disease support groups like the PRP Alliance as they would be with the National Psoriasis Foundation.

Rare disease patients and their families need more than the name of their disease. They need a roadmap. When patients ask questions, they are not challenging the authority of their dermatologists. Quite simply, they just have questions. In the absence of an easy-to-access answer, they will dig deeper into the bowels of the internet, too often confused with disinformation and quack therapies. 

My recommendation: that roadmap will be found at the Genetic and Rare Diseases (GARD) Information Center.

Rare Disease Information Portal

GARD is a program of the National Center for Advancing Translational Sciences and is funded by the National Institutes of Health. GARD provides the public with access to current, reliable, and easy-to-understand information about rare or genetic diseases in English or Spanish. To be designated as a rare disease, the patient population in the United States must be fewer than 200,000. 

Rare Disease Database

GARD maintains a database of more than 7000 rare diseases including 597 rare skin diseases. Patients diagnosed with a rare skin disease will find reliable information including a summary, symptoms, causes, diagnosis, treatment, prognosis, and research opportunities. Every rare skin disease patient should begin their independent research with the GARD database.

Third-Party Resources

If your patients and their caregivers are going to “roam the internet,” jumpstart their search with appropriate third-party resources. PRP patients are specifically directed to the National Organization for Rare Disorders (NORD) and its 5000-word PRP overview written in lay language for PRP patients. Similarly, DermNet New Zealand, an online resource about skin diseases developed by the New Zealand Dermatological Society, Inc, is offered as a credible, third-party resource.

Searching the Internet

Should patients need to venture beyond the scope of GARD’s resources, they soon discover that finding accurate and reliable information on rare diseases among the millions of online sources is a difficult task for almost everyone. GARD offers insights for patients inexperienced in reviewing scientific and medical literature such as review articles, basic science or laboratory research, case reports, and articles discussing treatment.

Finding Financial Aid

The cost of care for rare medical conditions can place a significant financial burden on families. GARD offers resources to help patients find the financial support they need, such as information on financial aid for medical treatment, assistance with insurance premiums, and even participation in clinical trials.

Glossary

GARD knows that one of the biggest challenges patients and their families face when learning about rare and genetic diseases is understanding the complex genetics and medical terms used by the medical and scientific communities. They have created a glossary of terms to help patients and their families better understand the genetics and medical terms that are used on GARD’s website.

Rare Skin Disease Referral Initiative

In November 2017, the PRP Alliance funded a mailing to the chairs of dermatology departments at 88 teaching hospitals in the United States. We advocated the referral of rare skin disease patients to GARD. The initiative is supported by both the GARD Information Center and NORD.

The roadmap is clear. We need hope and directions: give us GARD. Dermatologists should routinely refer rare skin disease patients to GARD’s website at https://rarediseases.info.nih.gov.

Our journey from onset to remission requires a proper diagnosis, a well-conceived treatment plan, and a proper roadmap. Do not let us wander the internet’s dead ends. Refer us to a credible resource. With accurate information, we can build confidence and hope. Dermatologists and their patients are on the same journey. We need your help. Check out GARD for yourself. 

Mr McCue is founder and president of the PRP Alliance, Inc, and editor of the PRP Survival Guide.