Why early diagnosis matters

For many with a rare disease, the hardest part is not treatment but simply getting a name, a search that can take years.

For most illnesses, diagnosis is the easy part. For rare diseases, it is often the longest and most exhausting chapter, a journey so common it has a name: the diagnostic odyssey.

The measure of the delay

On average, it takes around 4.7 years to reach a diagnosis of a rare disease, though studies put the range anywhere from four to eight years, and some registries higher still.¹ More than half of patients wait over six months from their first medical contact, and around a quarter wait between five and thirty years.¹

The cost of not knowing

Along the way, patients are given, on average, two or three misdiagnoses, each one a wrong turn, a wrong treatment, a further delay.¹ And the odyssey falls hardest on certain groups: those whose symptoms begin in childhood, women, and people with genetic disease.¹

Before there can be treatment, there must be a name.

Why speed changes everything

A diagnosis is not just a label. It can end years of unnecessary tests, unlock the right care, connect families to others who understand, and, for the growing number of treatable rare conditions, start the clock on therapy before irreversible harm is done.

Why it matters

Shortening the diagnostic odyssey is one of the most immediate ways to change lives in rare disease, often before any new medicine is involved at all.