Raising Awareness of AADC Deficiency

Having a child with is a rare genetic disorder like aromatic L-amino acid decarboxylase (AADC) deficiency is life-altering. As with most diseases, early diagnosis and treatment usually lead to better outcomes. That is why it is important to raise awareness about the disease.

Following are some ways you can help raise awareness about AADC deficiency.

What is AADC deficiency?

AADC deficiency results from a mutation in a gene that produces the aromatic L-amino acid decarboxylase (AADC) enzyme. The mutations in this gene, called the DDC gene, lead to a lack of the AADC enzyme. This enzyme is critical for the production of two neurotransmitters, serotonin and dopamine. The reduction in dopamine and serotonin lead to a host of symptoms.

Why greater awareness is important

AADC deficiency is an extremely rare genetic disorder with less than 150 cases reported internationally and an estimated prevalence of one to three people per 100,000 in the U.S. Since the disease is so rare and shares many symptoms with other neurological disorders, doctors often misdiagnose it. Raising awareness and educating people about AADC deficiency will help discover more cases and potentially improve the treatment your child receives.

Through increased awareness, children with AADC deficiency will have a better chance of receiving a diagnosis earlier. This could lead to earlier treatment and improve outcomes.

How can I help raise awareness?

There are several types of activities you can participate in to help raise awareness of AADC deficiency.

There are several patient organizations that you can donate to or volunteer with to help them increase awareness and fund research into AADC deficiency and other rare diseases. These include the AADC Research Trust, the National Organization of Rare Diseases (NORD), and the Pediatric Neurotransmitter Disease Association (PND association).

The AADC Research Trust has hosted several fundraising events and conferences in the past including #oneRAREstep, Teddy Wears Blue Campaign, and AADC deficiency international conferences.

You also can start your own events. You can use #RareDiseaseDay to post photos and stories to social media during the annual Rare Disease Day (Feb. 28 every year). NORD has templates you can use to send your story to news outlets to raise attention for the disease.

Finally, you can contact your elected officials to tell them your story and ask them to work on allocating more funding for research into AADC deficiency and other rare diseases.

Last updated: Sept. 23, 2020

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AADC News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.