Author Archives: Mary Chapman

Art Contest Salutes Creativity of Rare Disease Communities

Butterflies, ballerinas, and abstract flowers are featured among the winning artwork of this year’s Rare Artist contest, hosted by the EveryLife Foundation for Rare Diseases to heighten awareness about rare disease communities and salute the creativity of its members. Awardees will be able to display their art and…

EURORDIS Award Contest Welcomes Photos of Life With Rare Disease

The annual EURORDIS Photo Award contest is inviting people worldwide to visually express what life is like with a rare disease, while raising awareness through their work of these disorders. Submissions for next year’s awards are open until Jan. 31. The competition is organized by France-based EURODIS, an alliance…

Respite Care for Children With AADC Deficiency

Providing constant care and supervision to a child who has a chronic disease such as aromatic l-amino acid decarboxylase (AADC) deficiency can be mentally, physically, and emotionally draining. Respite care may be beneficial for you, your child, and your family. What is AADC deficiency? AADC deficiency is a rare…

Medical Alert Cards for AADC Deficiency

Aromatic l-amino acid decarboxylase (AADC) deficiency can cause sudden cardiac issues, oculogyric crises, and problems with breathing and blood pressure, among other symptoms. Physicians may not be familiar enough with AADC to respond adequately in such situations. That’s why medical alert cards are very important.

My Child Needs a Lumbar Puncture, Now What?

If doctors suspect your child might have aromatic l-amino acid decarboxylase (AADC) deficiency, they may order a lumbar puncture to aid in a diagnosis. Here are some tips on what to expect with this procedure. What is AADC deficiency? AADC deficiency is a rare genetic disorder characterized by developmental…

Common Misdiagnoses of AADC Deficiency

Only about 100 cases of aromatic l-amino acid decarboxylase (AADC) deficiency are reported in scientific literature globally. This is partly because some individuals are wrongly diagnosed with cerebral palsy or other neurological conditions. Here are some reasons for the misdiagnoses that commonly accompany AADC deficiency. What is…