A disease is considered rare if it affects less than 200,000 people per year. 80% of those diseases tie into a person’s genetics and as we progress further into the complexity of genetics – we may even be able to identify and provide a road map to certain rare diseases.
Ben Forred is a researcher with Sanford and during our conversation, he mentions that patients with rare diseases can go through quite a journey from initial diagnosis to final diagnosis. In fact, Ben uses a great quote “If you see a hoof print, assume it’s a horse – not a zebra,” meaning that you shouldn’t jump to the rare disease, but start with the more common ones. This can lead to the lengthy diagnosis process.
Rare diseases, while more common than you might expect, are still incredibly life changing and follow those individuals throughout their lives. It commonly means more hospital time, lifestyle changes, etc.
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