Learning From Those Touched By Rare Disease 1

Rare Disease Day

Our most rare or unique qualities can often be our greatest strengths, but when it comes to disease, rarity is a tremendous challenge. A rare disease, also known as an orphan disease, is any disease that affects a small percentage of people. In the United States, a disease is considered rare if it affects fewer than 200,000 people at any given time. According to the National Institutes of Health (NIH), there are more than 6,800 rare diseases. Though each of these diseases are rare, having a rare disease of some sort is not. Approximately 30 million Americans, or almost one in every 10 people, suffer from a rare disease.

Living With a Rare Disease

The numbers cited above are interesting, but they don’t tell the whole story. The rest of the story relates to the daily struggles of rare disease patients and their support networks. Rare disease symptoms vary even among patients suffering from the same disease. This symptom variability, combined with lack of scientific understanding and awareness, can lead to delayed diagnosis and difficulty accessing treatment. Patient quality of life is severely affected by the “loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease.”

Rare Disease Day, which takes place on the last day of February each year, was created to raise awareness about rare diseases among the general public and decision-makers. Since its beginning in Europe in 2008, Rare Disease Day has become a worldwide phenomenon, with 84 countries around the world participating in 2014. This year’s Rare Disease Day is taking place on Saturday, February 28 and highlights patient stories. The “Living with a Rare Disease” theme, as illustrated by the moving video below, focuses on patients, families, and friends “whose daily lives are impacted and who are living day-by-day, hand-in-hand with rare disease.”

Research on Rare Diseases

As I stated in a recent post for PACE Network (a Lilly Oncology initiative) research is critical to advancing our scientific understanding of rare disease and discovering needed treatments. Thankfully, we’ve made some progress in this area over the last few decades.

This observation that clinical trials and additional research can lead to better understanding about existing medicines led advocates and members of the scientific community to strongly support the initial passage of the Orphan Drug Act (ODA) more than 30 years ago. The Act provides incentives for researchers to investigate whether or not existing, approved medicines can be repurposed to treat rare conditions. Before the ODA was enacted, only 34 treatments were approved for rare conditions, but since its passage more than 450 medicines have been approved for rare diseases. For instance, one treatment originally developed to help mothers cope with morning sickness is now used to treat patients with a rare form of cancer called multiple myeloma.

But we still have much work to do. And this needed work is not only in the scientific realm but also in the human realm, as highlighted by this year’s Rare Disease Day theme. Rare disease patients and their support networks deal with daily challenges that those of us without rare disease simply cannot fathom. As healthcare professionals and clinical researchers, we may not be able to immediately fix these challenges. But we should listen to rare disease patients so that we can better serve them in our work. Increasingly, we have the means to do exactly that.

Understanding Rare Disease Patients’ Perspectives

Rare disease patients are using the Internet to share their stories on Rare Disease Day, as well as the other 364 days a year. Clinical researchers, along with other healthcare professionals, have a duty to listen. Sure, we can never truly understand what rare disease patients go through (unless perhaps we are one), but we need to at least try. The accessibility of the Internet, combined with the generosity and bravery of these patients, provide us with unprecedented opportunity to immerse ourselves in the rare disease patient perspective. Clinical researchers who do not have contact with patients as part of their work will particularly benefit from this perspective.

In that spirit, I’ve collected some resources below to help you get started. Explore these links or forge your own path of listening and greater understanding. You’ll be glad you did.

17 Things You’ll Only Understand If You Have A Rare Disease
In typical BuzzFeed fashion, this collection of animated GIFs humorously and concisely communicates some common struggles and emotions that rare disease patients experience.

Rare Disease Patient Stories
The National Organization of Rare Disorders (NORD) maintains a web page devoted to the stories of rare disease patients. Meet rare disease patients Lulu, Ben, Gaby, Janelle, Rayven, and Ian.

RareConnect’s resources and collection of rare disease communities provide a glimpse into the lives of rare disease patients and their support networks.

Rare Disease Day Facebook Page
Rare Disease Day maintains a very active Facebook Page, which you should like and browse to view a wealth of patient stories. Location-specific Pages can be found using Facebook search.

Rare Disease Day Twitter Page
Rare Disease Day is also active on Twitter. Give them a follow and check out their Twitter feed. You can also follow the #RareDiseaseDay hashtag to view the tweets of Rare Disease Day participants.

As you read these rare disease stories, take the time to appreciate the struggle of those whose “daily lives are impacted and who are living day-by-day, hand-in-hand” with rare disease. Share your thoughts in the comments below or on Twitter.

One comment

  1. Pingback: Learning From Those Touched By Rare Disease | CLINYS – operational excellence for life science companies

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