AADC deficiency is an extremely rare neurotransmitter disease that results in life-limiting motor dysfunction and developmental delay.

Could it be AADC deficiency?

Raising awareness of this ultra-rare disorder is now more important than ever.

The possibility of gene therapies offers new hope for patients and families impacted by rare disorders like AADC deficiency. Yet because it is so rare and its symptoms are similar to those of other neurological conditions, AADC deficiency is often misdiagnosed, or goes undiagnosed for months to years.

It is estimated that there are only 1800 living patients with AADC deficiency worldwide.

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introduction

To drive patient identification, we developed a campaign that clearly communicates symptoms and the proper path to diagnosis.

A hallmark symptom of AADC deficiency is hypotonia, often referred to as “floppy baby syndrome.” The campaign suggests through the use of a doll how this symptom typically looks in a child who presents.

In rare diseases, finding real-life patients to feature in a campaign can be challenging. Using a doll to depict hypotonia creates intrigue and accurately represents how this hallmark symptom presents in children with AADC deficiency.

Impact

An integral component of the campaign was the development of educational websites for both healthcare professionals and caregivers. These websites contain content, downloadable resources, and videos to assist in patient identification and provide the steps to proper diagnosis.

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Results

Our hope is this campaign enables as many patients as possible to be identified and ultimately treated when therapy becomes available.

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