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Getting support

There are a variety of websites and support groups that can help caregivers like you find information and resources. Here are some that might be right for you:

AADC Family Network
AADC Research Trust
Child Neurology Foundation (CNF)
Genetic and Rare Diseases Information Center (GARD)
Global Genes
National Organization for Rare Disorders (NORD)
Rare Diseases Clinical Research Network

Navigating Medicaid

When you have a child with a rare disorder like AADC deficiency, healthcare costs can become a concern. Medicaid may be an option for many families.

Find out about your state’s Medicaid coverage.

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No-cost testing can help confirm an AADC deficiency diagnosis

Current guidelines recommend confirming an AADC deficiency diagnosis with genetic testing. PTC Therapeutics is supporting no-cost AADC deficiency testing that can help you and your child’s doctor work toward a potential diagnosis. This simple blood test available for eligible patients includes plasma 3-OMD measurement. High levels of 3-OMD can be a sign of AADC deficiency. If 3-OMD is elevated, additional tests will be done to measure AADC enzyme activity and determine whether there is a mutation in the DDC gene.

Download a helpful information sheet for your child’s doctor on the Resources page.

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3-OMD=3-O-methyldopa; AADC=aromatic L-amino acid decarboxylase; DDC=dopa decarboxylase.

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