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.”


The Power of Community for Rare Disease Patients 18

Bens FriendsRDD_Infographic_20130225Wikipedia states:

In the United States, the Rare Diseases Act of 2002 defines rare disease strictly according to prevalence, specifically “any disease or condition that affects less than 200,000 persons in the United States,”[2] 

To give a sense of magnitude and impact, there are roughly 7,000 rare diseases and collectively they affect 300 million people worldwide. 1 in 10 people in the US suffer from a rare disease. (Source: Siren Interactive)

Coping with rare disease

Those with rare diseases can face serious challenges. Attaining a proper diagnosis can be difficult, even among the more well-known rare diseases. Symptoms are often confusing and mis-diagnosis is not uncommon.

In fact, according to the FDA, for one-third of those with a rare disease, accurate diagnoses can take one to five years. And, patients face challenges associated with finding and accessing care:

…  [patients are] often are so isolated that they may never know anyone else with the same disease. Patients often must travel long distances to visit the few doctors knowledgeable about their illnesses, and the costs involved with diagnosis, treatment, and other related expenses can be exorbitant.

With a little help from my friends

One way rare disease patients have found a way to meet their challenges is by connecting with one another online. Bensfriends.org is one such place where patients and caregivers are conversing, sharing and supporting each other.