Mary Chapman, features writer —

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…

A photo of a bespectacled young boy, his red baseball cap slightly askew as he  enjoys time outside, will be featured on the front cover of an upcoming calendar in the “Same But Different” contest to raise awareness about rare disorders. “A Lovely Day Out in Kew Gardens,”…

Same But Different, a nonprofit U.K. group that uses art for social change, is inviting people to choose their favorite photographs in a calendar contest to heighten awareness of rare diseases, including amyotrophic lateral sclerosis (ALS). The organization’s panel of judges has pared the number of contest submissions…

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…

The EveryLife Foundation for Rare Diseases has launched a scholarship fund in the U.S. to support individuals with rare disorders who are pursuing personal goals through training and education. The initial phase of the five-year, $1-million #RAREis Scholarship Fund will include 32 scholarships — each totaling $5,000 —…

There are only about 100 reported cases of aromatic l-amino acid decarboxylase (AADC) deficiency globally. That’s partly because some patients do not receive the right diagnosis and doctors think they have cerebral palsy or another neurological condition. To drive the identification of more AADC patients, and to raise…

To raise awareness of the rare disease community and celebrate the creativity of its members, the EveryLife Foundation for Rare Diseases is seeking submissions to the 2020 Rare Artist contest. Established in 2010, the contest is open internationally to patients, caregivers, physicians, friends, or anyone else who…

Advanced planning is important when traveling with a child who has aromatic l-amino acid decarboxylase (AADC) deficiency. Healthcare Be sure to take your child to see his or her primary physician at least a month before you leave. During the visit, the doctor can review your son’s or daughter’s…

If your child has aromatic l-amino acid decarboxylase (AADC) deficiency, you may want to consider participating in the patient registry of the International Working Group on Neurotransmitter Related Disorders (iNTD). The group’s aim is to foster global exchange of clinical data, with the ultimate goal of improving…

Newborn screening for aromatic L-amino acid decarboxylase (AADC) deficiency has been studied, but has not yet been not been implemented. This is due partly to a lack of availability and standardization of noninvasive testing methods. Still, innovative treatment options, particularly gene therapy, have underscored the importance…