Author Topic: Results of survey about getting the correct diagnosis of a rare disease  (Read 3054 times)


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Hi All,

I thought you might be interested in the following article.  It provides the results of a recent survey undertaken by Shire Pharmaceuticals (main headquarters are in the UK, with several other locations, including the US).  Their survey shows the "significant gaps" in the diagnosis and care of patients with rare diseases.  It is a survey that was filled out by healthcare and insurance professionals  --

The survey pointed out that, "Key problems faced by patients right from the start include a lack of doctor access to resources and information and conflicting advice from healthcare professionals on treatment options."

You men are not alone in what seems like endless searching for answers and conflicting information from physicians about POIS!

NORD will soon be conducting a somewhat similar survey, but the huge difference is that our survey will be filled out strictly by patients.

Funds for this survey have been raised by a group of 17 employees of a wonderful pharmaceutical company based in the US, but also with many international locations -- Genzyme, Inc. These 17 employees will be running the Boston Marathon this weekend, and have been raising funds for a project at NORD. The goal is helping the rare disease community as a whole. We (NORD) came up with this type of survey a few months ago, and they loved the idea! 

The survey will be filled out exclusively by patients, and will focus on the multitude of steps people take -- and the barriers that they encounter -- in trying to get a proper diagnosis of a rare condition. The results will be made public, and will also be sent to large groups of physicians (both within the US and overseas). The goal is to educate physicians about the roadblocks that occur -- and to raise their awareness about the actual existence of rare conditions.   We will focus on family physicians and pediatricians, in particular -- because these are usually the first physicians to see the patient in consultation. Endocrinologists and neurologists will also receive these results    because, based on what we've learned at NORD over the years -- the trail to getting a diagnosis frequently ends in those offices -- with no diagnosis.

It's perfectly fine for a physician to say that he/she does not know what the diagnosis is. But if that is the case, further consultations, testing and referrals must be made by that physician.  We have heard -- repeatedly -- from people whose physicians have stated that they don't know what the problem is -- and left it at that!

When that survey is launched, I'll make sure that you men are all aware of it -- your input (anonymous) will be extremely helpful!!