Sunday, February 28, 2010

2/28 is Rare Disease Day — Insights on the Commonalities in Uncommon Diseases

At STINSON, we’ve had the privilege of helping to brand and market products that treat rare and serious diseases. For many, the launch of these brands has been life-changing. Although each individual patient’s story is unique, we’ve noticed some striking similarities across medical conditions.  Here are some thoughts submitted by Nancy Burgess, Director of CHEM at our company.
  • Years of suffering without a diagnosis - Many patients with rare conditions suffer for years with seemingly “unrelated” symptoms until an astute specialist finally puts the pieces together. In the meantime, many end up with multiple diagnoses, misdiagnoses, and are sometimes even told that it’s “all in their head.”
  • Feelings of isolation - Many of these people feel alone. In part, the unpredictability of symptoms can make it hard to make plans in advance. Additionally, with only 1 in 100,000 people diagnosed with a rare condition, it’s no wonder that patients (and their families) often feel “nobody understands what I’m going through.”
  • Self-education - Many patients conduct their own research to get answers. Often patients wind up knowing more about the disease than the average physician, and they are forced to take on the role of educating the healthcare professionals. These patients rely on a small group of medical experts, the Internet, and social networking sites for information, inspiration, and support.
  • Patient associations - The combination of suffering, isolation, and the need for information acts as a catalyst for a patient or family member to start a support group. Often, the groups’ costs are defrayed by pharmaceutical companies who share an interest in successfully treating these patients and providing the support they need. The pharmaceutical companies can be instrumental in helping organize individuals and rallying them around their common interest.
Some of these conditions include such obscure diagnoses as hereditary angioedema (HAE), primary immunodeficiency, and acromegaly.

Learn more about HAE at or 
Learn more about primary immunodeficiency at or
Learn more about acromegaly at or

1 comment:

Jairaj said...

This is a very insightful posting, thanks. Check out this video clip about one person's interview on coping with his rare disease, acromegaly.