Why Is Getting a Rare Disease Diagnosis So Difficult?

List: Posted: 01/13/11

Here's a worrying medical statistic: out of the 5,980 people recently surveyed about their treatment for 8 rare diseases, it was found that 40% of individuals were initially misdiagnosed (source: EurordisCare survey). For many of the survey respondents, misdiagnosis led to inappropriate medical interventions including surgery, medicines, and psychological treatment.

This brings up an important medical question. For many rare diseases including neurological diseases, any delay in treatment can lead to progressive worsening of symptoms, and in many cases this worsening is permanent. So if this is known, why the delay?

Consider a recent report from The Hide and Seek Foundation, who received a call from a woman whose cousin's seven month old son, Ben, had been displaying possible symptoms of a neurometabolic disease (darting eyes, not rolling over, trunk weakness.) The parents took Ben to a neurologist and they discovered a cherry red spot, a telltale sign of neurometabolic disorders like Tay-Sachs, Sandhoff or many of the other lysosomal disorders. But the doctor just told the family to go home and wait for the geneticist appointment in "two-ish weeks.”


This brings up an all-too-common problem in the treatment of rare diseases. Due to lack of funding and available doctors/ geneticists, many people or children who may be at risk of a rapid decline are held in limbo as they wait for an appointment, during which time a patient may decline to a point where treatment may then be impossible as symptoms become permanent.

Based on recent medical findings for the above case, every second counts when a child or a baby is declining neurologically. And there are several treatments available for children with rare diseases such as enzyme replacement therapy. But the longer the patient waits before these treatments are started, the slimmer the chance that any eventual treatment will succeed. 


In addition to the delay in diagnosis:

• 25% of people surveyed reported waiting between 5 and 30 years from the time of first symptoms to a confirmatory diagnosis of their disease

• 25% of people had to travel to a different geographical region to obtain a diagnosis, and 2% had to travel to a different country

• In 33% of cases, the diagnosis was announced in unsatisfactory terms or conditions. In 12.5% of cases, it was announced in unacceptable terms

• The genetic nature of the disease was not communicated to the patient or family in 25% of cases (despite most rare diseases having a genetic component)

• Genetic counseling was only provided in 50% of cases

The reason I'm bringing this survey to your attention now is for two reasons. One is that it provides some good statistics for you to quote when talking about rare diseases. The second is that the survey results, and those of the third EurordisCare survey, have been published in a book form, which I'll discuss in another article.

By all accounts, it seems that the key to stopping any progression in a neurometabolimic disorder is to act fast and treat the symptoms as quickly as possible. Children who have life threatening diseases should not have to wait weeks for an appointment and then begin a new round of testing to determine exactly what life threatening disease is facing their child. This family also needs counseling services and needs to begin to prepare themselves for the fight of their lives.

But with long waiting lists for even common diseases, where will these extra doctors come from?

Mary Kugler, RN and RARE Blog Contributor


For more info and to read the full blog, visit www.crdnetwork.org

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