Long diagnosis, misdiagnosis, or no diagnosis – how rare diseases go under the radar

If you have a rare disease, the search for a diagnosis can often feel like the longest detective investigation with no clues, lots of blind alleys and, occasionally, disbelieving authorities.

It may seem like things are going nowhere, even for years, Sometimes this is because information on the condition just isn’t available and not enough research has been done; other times it’s difficult to find someone knowledgeable enough to spot the signs of a rare disease. After all, these diseases are so rare that many doctors have never come across them in their careers.

Either way, a person with a rare disease can end up playing investigator in their own personal medical mystery – and in some situations even end up solving the case, or devising treatment, for themselves!

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Acromegaly

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Acromegaly is a hormonal disorder that develops when your pituitary gland produces too much growth hormone during adulthood.

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When you have too much growth hormone, your bones increase in size. In childhood, this leads to increased height and is called gigantism. But in adulthood, a change in height doesn't occur. Instead, the increase in bone size is limited to the bones of your hands, feet and face, and is called acromegaly.

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Because acromegaly is uncommon and the physical changes occur slowly over many years, the condition sometimes takes a long time to recognize. Untreated, high levels of growth hormone can affect other parts of the body, in addition to your bones. This can lead to serious — sometimes even life-threatening — health problems. But treatment can reduce your risk of complications and significantly improve your symptoms, including the enlargement of your features.

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