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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:

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

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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