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Taking the Steps to Improve Early Diagnosis of Rare Diseases

Our daughter was born with craniosynostosis, a rare disease where two of the bone plates surrounding her brain were fused together. These babies are generally born with deformed heads, as was our daughter.

Finding an answer

Even with a misshapen head, it took over two months to get a diagnosis. At the time, our doctor said she looked healthy and that a baby’s head is often a bit oddly shaped right after birth. At first, we believed him, but after a month without any improvement, we became rare disease warrior parents. Even then, it took another month to get a diagnosis.

Imagine how hard it is for a person who appears relatively normal on the outside, but has a rare disease lurking internally to get a proper diagnosis. It can take years. A survey by Global Genes and Shire estimates that it takes an average of 7.6 years for a patient in the United States with a rare disease to receive the correct diagnosis. During that time, they will be misdiagnosed 2 or 3 times, and see up to 8 different doctors. We need to do better.

Educating doctors

 A common story shared in the rare disease community is that clinicians are taught in medical school to think like ranchers. If ranchers hear hoof beats, they assume a horse is behind them — not a zebra. Similarly, when physicians see a series of symptoms, they assume they’re related to a common — not rare — ailment. A patient with a rare disease may see many doctors and receive multiple misdiagnoses for common conditions.

The only ways to change that mindset are education and awareness. Fortunately, several websites and publications are available to help people learn about rare diseases — and to think “zebras” instead of “horses.”

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