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The convergence of rare disease, digital communications, and pharmaceutical marketing communications

My Odyssey With a Rare Disorder

Posted by | 12:06pm on Tuesday, March 17, 2009

Like many caregivers, I spent countless hours on the internet searching for answers. 

According to a recent survey conducted by the National Organization for Rare Diseases (NORD), the rare disorders community is underserved and burdened in a number of areas. Among their key findings were:

  • One in seven patients remained undiagnosed for six years or more.
  • 42% of respondents are prevented from working due to their rare disorder.
  • 77% of respondents report that their rare disorder has caused the patient or their family a financial burden – with 32% characterizing that burden as “extreme.”
  • A majority of respondents find it difficult to locate information related to their disorder.
  • 28% of patients had treatment denied or delayed due to insurer pre-approval requirements.
  • 10% of respondents were denied a referral to a specialist by their insurer.
  • 45% of patients would be likely to use experimental treatment.

The last day in February has been designated Rare Disease Day.  Last year it was kicked off on February 29th (you have to agree, it is an appropriate and interesting choice), and this year and for the next three it will be on February 28th. A close approximation but not exactly the right day. Kind of a metaphor for how some information is gathered around rare disorders.

As some of you who follow this blog know, I have a daughter with a rare disorder. It is not life threatening. She was born with missing kneecaps and a club foot. The first week she was born, the pediatric orthopedic surgeon casted her thinking she had a simple club foot. After four months, I was at a follow-up visit with a resident and commented on the fact my daughter had dimpled knees. Dimpled knees… this rang a bell for the surgeon and we started down the road of diagnosis. It took several months, many tests and many false starts to figure out what she had. Twice, I was told she would never walk. In the end, she has had many, many rounds of physical therapy (not covered by any insurance), and she does walk, climb stairs and even run — although much slower than other children.

Like many caregivers, I spent countless hours on the internet searching for answers. In fact, I tracked down a doctor at Johns Hopkins who had identified the genetic marker for nail patella syndrome — the syndrome that most closely seemed to fit what I thought my daughter might have. I talked about it on the phone with him and asked if this was really a disorder affecting 1 in 50,000 people and what doctor in Chicago — a city of 6 million — should I go to and see?  He didn’t have an answer. I visited almost all of the 20 pediatric orthopedic surgeons in Chicago and I know they discussed her case in several of their monthly meetings.

There is a conference for this disorder about every two years. I haven’t gone to one yet, but I plan to when the next one rolls around. Nothing replaces face-to-face conversations, but my daughter would not be in the place she is now without the information and access to support I got from the internet.

Does anyone else have a story about finding information online that helped them diagnose or manage their rare or chronic disease?

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(Image courtesy of IRRI Images via Flickr)

About Wendy White

Since founding Siren Interactive in 1999, Wendy has been recognized as a thought leader at the intersection of niche pharma brands, patient empowerment and online marketing. Her vision for how the internet can facilitate interactions and provide crucial information that patients, caregivers and their healthcare providers previously struggled to find has propelled Siren to the forefront of relationship marketing for rare disorder therapies.

View other posts from Wendy

  • Pam Todd

    Thanks for reminding us of how important it is for caregivers and patients with rare disorders to educate themselves and become their own advocates. The NORD survey on the impact of rare disorders on patients’ lives reminded me of a recent story in the Arizona Republic which reported that many people are skipping much-needed care to save money during the recession.http://www.azcentral.com/news/articles/2009/03/15/20090315sick-economy0315.html

    So it’s not only information on diagnosis and treatment that people need, but information on patient assistance programs that can help people navigate insurance and financial issues and maintain their access to care. The important thing is to remember that help is out there – through foundations, state insurance agencies, and pharmaceutical companies.

  • Brian Joosse

    Hi Wendy, what an oddysey. No wonder you and Siren as a whole can provide empathy and insight into communicating with, for, and about rare disease/disorder communities. Clearly the internet is a core part of that communication, and such a vital resource for patients, caregivers, and physicians. This is a great blog, and you and Frieda do a great job providing excellent information about healthcare communication.

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