Mary Chapman, features writer —

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…

The Rare Diseases Clinical Research Network (RDCRN) has opened an online survey to better understand how the COVID-19 outbreak is affecting people with rare diseases, their families, and caregivers. Survey questions cover a patient’s physical and mental health, supply of treatments, and access to healthcare, among other…

The National Organization for Rare Disorders (NORD) has opened a financial assistance program for people in rare disease community who are affected by the COVID-19 pandemic in the U.S. Called the NORD COVID-19 Critical Relief Program, the effort will provide up to $1,000 annually to those eligible to…

Children with aromatic l-amino acid decarboxylase (AADC) deficiency may require the help of aids and other special equipment to deal with the challenges posed by the disease. There are a number of tools and adaptive devices that you and your child may find helpful. What is AADC deficiency? AADC…

Providing constant care and supervision for a child with aromatic l-amino acid decarboxylase (AADC) deficiency can be emotionally and physically exhausting. The disease leads to developmental delays, along with symptoms such as uncontrollable movement, weak muscle tone, fatigue, and vision problems. A practice called mindfulness…

Caring for a loved one with a chronic illness such as aromatic l-amino acid decarboxylase (AADC) deficiency can be stressful and exhausting. Many people may not really understand this, even some closest to you, and it’s not always easy to explain yourself. An analogy called…

Beginning on Feb. 29, Rare Disease Day, chapters from notable scientific books and clinical review articles covering rare disorders will be available free-of-charge from Elsevier. The offer runs through April 30, and aims to supports work by researchers and clinicians into a better understanding of and treatments for rare diseases, as well…

An abundance of events are afoot around the world to mark Rare Disease Day 2020 on Feb. 29. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…

The U.S. Food and Drug Administration (FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history — how disorders such as spinal muscle atrophy (SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical…