AADC News

August 2, 2022August 2, 2022

Houston Meetup a Rare Opportunity for AADC Deficiency Families

AADC News

As my friends and I sat in the shade under two large cabanas, members of the hotel staff brought us cool drinks and delicious Texas barbecue. Although it was hot, ... Read more

July 27, 2022July 27, 2022

Scientists Test New Method That Can Help Diagnose AADC Deficiency

AADC News

Scientists have discovered a new technique to measure the activity of the aromatic-L-amino acid decarboxylase (AADC) enzyme to help diagnose AADC deficiency. The assay, which uses liquid chromatography-tandem mass spectrometry, ... Read more

July 26, 2022July 26, 2022

Making Progress With AADC Deficiency Doesn’t Mean Forgetting the Past

AADC News, COVID-19 News

Twelve plane trips, five states, and several adventures later, I feel blessed our family had a marvelous month-long summer vacation. However, as the vacation comes to a close, I am ... Read more

July 20, 2022July 20, 2022

Gene Therapy Upstaza OK’d in Europe to Treat AADC Deficiency

AADC News

The European Commission has approved the gene therapy Upstaza (eladocagene exuparvovec) to treat aromatic l-amino acid decarboxylase (AADC) deficiency in patients ages 18 months and older. The approval covers all ... Read more

July 19, 2022July 19, 2022

The Catch-22 of Diagnostic Testing for AADC Deficiency

AADC News

Another hospital visit and another test. Searching for answers for the condition of our daughter, Rylae-Ann, meant constant hospital admissions. Between testing and treating complications of this mystery disease, the ... Read more

July 13, 2022July 13, 2022

List of Rare Diseases Tops 10,000 – and Is Growing – New Analysis Finds

AADC News

Note: This story was updated July 13, 2022, to correct the name of Rare-X’s CEO Charlene Son Rigby. Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have ... Read more

July 12, 2022July 13, 2022

How We Manage Our Daughter’s Blood Sugar Levels to Avoid a Hypoglycemic Crisis

AADC News

As the sun crept higher into the beautiful morning sky, we decided to eat breakfast at a nearby park. The short walk would delay our normal breakfast time, but it ... Read more

July 6, 2022July 7, 2022

Altered AADC Enzyme Activity Found in Boy With Novel Mutation

AADC News, COVID-19 News

A novel gene mutation — which caused a case of aromatic l-amino acid decarboxylase (AADC) deficiency in a young boy — was found to directly impair a crucial step in ... Read more

July 5, 2022July 5, 2022

Airline Travel Tips for Children With Special Needs

AADC News, COVID-19 News

Airports are notorious for their challenging security and health requirements. Parents of children with special needs may find the thought of airline travel too daunting to even try it. However, ... Read more

June 29, 2022June 30, 2022

New Treatments Needed to Improve Quality of Life in AADC

AADC News

Aromatic l-amino acid decarboxylase (AADC) deficiency has a significant negative effect on patients, their families, and the healthcare system, according to a new review paper that called it “a debilitating ... Read more

June 28, 2022June 28, 2022

The Benefits of Massage for AADC-deficient Children

AADC News

Beneath my daughter’s skin, I know there are muscles, and deeper still is the desire to move. I know it’s there, but despite my willing her to move, she can ... Read more

June 22, 2022June 23, 2022

Airway Devices Help in Breathing in AADC Children Under Anesthesia

AADC News

A less invasive airway device — called a supraglottic airway device or SAD — was found to safely and effectively maintain breathing in pediatric patients with aromatic L-amino acid decarboxylase ... Read more

June 21, 2022June 21, 2022

Our Family Values the Power of Grandmas

AADC News, COVID-19 News

Father’s Day has just passed in the United States, and I appreciate all the wishes and wonderful comments I receive each year. However, this year, I’ve been thinking about the ... Read more

June 14, 2022June 14, 2022

Sensing How Our Children With AADC Deficiency Perceive the World

AADC News

Imagine that arms reach into your warm and dark shelter of solitude and thrust you into blinding lights and chaos. Cool air surrounds you and tickles your skin. As your ... Read more

June 7, 2022June 7, 2022

The Benefits of Indoor Playgrounds for AADC-deficient Children

AADC News, COVID-19 News

One hour of physical therapy cost us $150. Therapy rooms were filled with swings, mats, blocks, and an array of colorful objects. There’s no space in our house to set ... Read more