November 26, 2020November 25, 2020 Survey Finds COVID-19 Disrupted Care, Well-Being of Rare Disease Patients in Europe The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their ... Read more
November 25, 2020November 25, 2020 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, ... Read more
November 19, 2020November 19, 2020 Trials Data Predict PTC-AADC Gene Therapy to Result in Long-term Benefits PTC Therapeutics’ investigational gene therapy PTC-AADC is expected to result in long-term and durable therapeutic benefits in children with aromatic l-amino acid decarboxylase (AADC) deficiency, ... Read more
November 18, 2020November 18, 2020 Latest NORD Webinar Offers Insights on Starting Nonprofit, Patient Registry Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how to start a nonprofit and ... Read more
November 12, 2020November 12, 2020 Scientists Discover 4 Potential Protein Biomarkers for AADC, Other Disorders Scientists discovered four potential protein biomarkers — apolipoprotein D, apolipoprotein H, oligodendrocyte myelin glycoprotein, and collagen6A3 — that may be useful for assessing the ... Read more
Health Insights Medical Alert Cards for AADC Deficiency November 11, 2020November 11, 2020 Aromatic l-amino acid decarboxylase (AADC) deficiency can cause sudden cardiac issues, oculogyric crises, and problems with ...
News, syndicated NORD Hosting ‘RareLaunch’ Workshops to Help Start Rare Disease Non-profits November 5, 2020November 4, 2020 The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days ...
Health Insights My Child Needs a Lumbar Puncture, Now What? November 4, 2020November 4, 2020 If doctors suspect your child might have aromatic l-amino acid decarboxylase (AADC) deficiency, they ...
News Gene Therapy for AADC Deficiency Given Boost by NIH Grant October 29, 2020October 29, 2020 The development of new gene therapy to treat people with aromatic L-amino acid decarboxylase ...
News, syndicated UK Organization ‘Same But Different’ Announces ‘Glimmer of Hope’ Photo Contest Winner October 28, 2020October 28, 2020 A photo of a bespectacled young boy, his red baseball cap slightly askew as ...
Health Insights Feeding Tubes for AADC Deficiency October 28, 2020October 28, 2020 Nursing and swallowing can be difficult for children with aromatic l-amino acid decarboxylase (AADC) deficiency, ...
Telehealth ‘Helpful’ Alternative to In-person Care, Rare Disease Patients Say October 22, 2020October 23, 2020 A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience ...
Prevalence of AADC Deficiency October 22, 2020October 22, 2020 Researchers don’t know the exact prevalence (how common a disease is among a population) ...
AADC Deficiency Awareness Day Event Taking Place Oct. 23 on Facebook Live October 15, 2020October 15, 2020
Same But Different Asks Public to Vote on ‘Glimmer of Hope’ Calendar Photos October 8, 2020October 8, 2020
Common Misdiagnoses of AADC Deficiency September 30, 2020September 30, 2020 Only about 100 cases of aromatic l-amino acid decarboxylase (AADC) deficiency are reported in scientific literature ...
PTC, Invitae Launch Free Genetic Testing to Improve AADC, Other Diagnoses September 17, 2020September 17, 2020
Seizure Monitors for AADC Deficiency September 9, 2020September 9, 2020 People with aromatic l-amino acid decarboxylase (AADC) deficiency, whose symptoms usually begin during infancy, sometimes ...
Same But Different Photo Contest Celebrates People With Rare Diseases September 1, 2020September 1, 2020
News, syndicated Xperiome Platform Aims to Streamline Searches for Rare Diseases, Gain Patient Input August 25, 2020August 25, 2020 Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, ...
Health Insights All You Need to Know About Vitamin B6 and AADC Deficiency August 19, 2020August 19, 2020 Doctors often recommend vitamin B6 (pyridoxine) as a treatment for aromatic L-amino acid decarboxylase ...
News, syndicated EveryLife Foundation Launches Scholarship Fund for Rare Disease Community in US August 18, 2020August 18, 2020 The EveryLife Foundation for Rare Diseases has launched a scholarship fund in the U.S. ...
News How to Prepare for a Lumbar Puncture in AADC Deficiency August 12, 2020August 12, 2020 If your child’s doctor suspects aromatic L-amino acid decarboxylase (AADC) deficiency, they may recommend a ...
News, syndicated New Streaming Channel Showcases Rare Disease Films August 11, 2020August 11, 2020 When the COVID-19 pandemic forced the postponement of a rare disease film festival originally ...
Health Insights Oculogyric Crises in AADC Deficiency August 5, 2020August 5, 2020 One of the symptoms of aromatic L‐amino acid decarboxylase (AADC) deficiency are oculogyric crises, ...
News Urine Test May Help Diagnose AADC Deficiency, Study Says August 4, 2020August 4, 2020 A simple urine test using widely available methods may help diagnose people with aromatic ...
Health Insights Vaccines and AADC Deficiency July 29, 2020July 29, 2020 Parents or caregivers of children with aromatic L-amino acid decarboxylase (AADC) deficiency may be ...
Health Insights About the AADC Diagnostic Testing Program July 22, 2020July 22, 2020 There are only about 100 reported cases of aromatic l-amino acid decarboxylase (AADC) deficiency globally. That’s ...
