Will You Be the One to Make the Rare Dx?

Too often the journey to diagnosis for families living with rare diseases is long and protracted. The uncertainty of not knowing what is causing signs and symptoms only compounds the emotional burden of those directly affected and their caregivers.

Beyond the worry, a delay in diagnosis can also impact treatment plans and with some conditions, the ability
to impact potentially irreversible damage. Every moment matters.

Even when treatment is unavailable, an explanation for what is happening and what families can expect can make all the difference in the world.

The key to shortening the time to diagnosis and eliminating differential diagnoses is knowledge. It’s critical that the signs and symptoms of rare diseases are well known. It’s true that these conditions are rare, but they are real. Knowing what to look for and what tests should be completed is paramount.

Real People, Real Urgency

No one knows the frustration, and what can be true desperation, tied to not having a diagnosis better than those families who have been impacted by these rare conditions.

The profiles below highlight real people and the urgency behind getting a diagnosis. Signs and symptoms, diagnostic pathway and risk profiles are also noted.

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