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:
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.Go now
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.Visit Resources
3-OMD=3-O-methyldopa; AADC=aromatic L-amino acid decarboxylase; DDC=dopa decarboxylase.