AADC News

January 12, 2022January 12, 2022

Centogene Launches CentoCloud Tool for Rare Disease Diagnostics

AADC News

Centogene has launched CentoCloud, a cloud-based platform designed to allow decentralized analysis and interpretation of an individual’s genetic data, thereby providing fast diagnostic insights and medical reports. Reported to be ... Read more

January 11, 2022January 11, 2022

How We Approach Teaching and Learning With Our Daughter

AADC News

Once we started joining aromatic l-amino acid decarboxylase (AADC) deficiency communities, families began reaching out, offering support, and providing information. As our knowledge about the disorder grew, my wife and ... Read more

January 5, 2022January 5, 2022

Global Genes Seeks Applications for 2022 RARE Meet-Ups Grants

AADC News, COVID-19 News

Global Genes, a worldwide non-profit, is seeking to support in-person meet-ups that provide access to educational resources and assistance for patients, caregivers, and advocates for rare diseases, such as aromatic ... Read more

January 4, 2022January 4, 2022

How Anxiety Affects Our Daughter With AADC Deficiency

AADC News

When a parent sees their child gripped with fear or anxiety, we immediately take action to reassure them that everything is all right and they are safe. However, with children ... Read more

December 28, 2021December 28, 2021

Preventing Hip Dislocation in Children With AADC Deficiency

AADC News, COVID-19 News

We struggled to comprehend the news and reeled from the shock when our daughter, Rylae-Ann, was diagnosed with a rare disease known as aromatic l-amino acid decarboxylase (AADC) deficiency. We ... Read more

December 22, 2021December 22, 2021

Health Values for AADC Deficiency Calculated by UK Researchers

AADC News

A trio of researchers in the U.K. has calculated health utilities for AADC deficiency, a quantitative measure of health value that will be useful for assessing the economic health value ... Read more

December 21, 2021December 21, 2021

The Importance of Backing Up and Organizing Digital Medical Records

AADC News

Our daughter, Rylae-Ann, has medical records scattered around because of multiple visits to the hospital, traveling to meet doctors, and moving homes. Those afflicted by aromatic l-amino acid decarboxylase (AADC) ... Read more

December 15, 2021December 15, 2021

Patients With Neurotransmitter Disorders Report Anxiety Troubles

AADC News

Anxiety and distractibility are among the most common problems reported by people living with AADC deficiency and other disorders that affect neurotransmitter production, according to a new study. Results also ... Read more

December 14, 2021December 14, 2021

Finding a Doctor Who Has Experience With AADC Deficiency Isn’t Easy

AADC News, COVID-19 News

We have seen several doctors in various countries in order to provide our daughter, Rylae-Ann, with the best healthcare and most beneficial checkups. We have settled on two doctors, and ... Read more

December 8, 2021December 8, 2021

Gene Therapy PTC-AADC Provides Benefits for 5 Years in Children

AADC News

The investigational gene therapy PTC-AADC (eladocagene exuparvovec) provides lasting and meaningful improvements in motor and cognitive function in children with aromatic l-amino acid decarboxylase (AADC) deficiency, updated results from three clinical ... Read more

December 7, 2021December 7, 2021

Finding Answers Through Genetic Testing

AADC News

Genetic testing has gained much attention thanks to commercial products that provide people with details about their family’s origin. With a simple home kit, you can mail off samples and ... Read more

December 2, 2021December 2, 2021

A Support Network Helps Us Better Care for Our AADC-deficient Daughter

AADC News

My wife and I would not have accomplished as much as we have without our support network. These people have played a critical role in helping us manage our daughter ... Read more

December 1, 2021December 1, 2021

New Method for Diagnosing AADC Detects 2 Biomarkers in Blood Spots

AADC News

A new method has been developed that detects two biomarkers associated with aromatic l-amino acid decarboxylase (AADC) deficiency in dried blood spots at the same time, a study reveals. This ... Read more

November 24, 2021November 25, 2021

New Tools May Help Assess Impact of Future AADC Therapies

AADC News

Researchers have developed and validated new tools to help evaluate health-related quality of life, or HRQoL, in people with aromatic l-amino acid decarboxylase (AADC) deficiency. These tools can be used ... Read more

November 23, 2021November 23, 2021

The Medicine of Sleep

AADC News

Before our daughter, Rylae-Ann, was diagnosed with aromatic l-amino acid decarboxylase (AADC) deficiency, the telltale sign that something was amiss were the cyclical spells that began at 3 months old ... Read more