human STORIES

Eating Difficulties: A Journey with Argonaute Syndrome Feeding should come naturally, right? Many doctors reassure parents that children won’t let themselves starve – their bodies will demand nourishment. While that might hold true for neurotypical children, it’s not always the case for those with ultra-rare conditions like Argonaute Syndrome. In fact, 30% of children with Ago1 Syndrome and 35% with Ago2 Syndrome require feeding tubes or PEGs because they cannot meet their nu

Reflections on the 2nd International Argonaute Syndromes Family Workshop Coming back from the 2nd International Argonaute Syndromes Family Workshop in Copenhagen, I’m filled with a mix of emotions—hope, gratitude, and determination. Held from August 23 to 25, 2024, this event wasn’t just a meeting; it was a gathering of hearts and minds united by a shared purpose: to make life better for our children affected by ultra-rare AGO1 and AGO2/Lessel-Kreienkamp syndromes. The worksh

From Awareness to Therapy: A Year of Action Around AGO-Related Rare Diseases Rare diseases are often described as “rare” only from a statistical perspective. For affected families, they are a daily reality. Over the past year, the AGO community—patients, families, scientists, and clinicians—has taken meaningful steps to ensure that conditions linked to Argonaute (AGO) genes are better understood, more visible, and, ultimately, treatable. Building Awareness and Social Engageme

Prof. Ambros: From the Discovery of microRNA to Standing with Families Living with AGO Syndromes When Prof. Ambros was announced as one of the winners of the 2024 Nobel Prize in Physiology or Medicine , the scientific world celebrated a landmark achievement in fundamental biology. For families affected by AGO syndromes , however, the moment carried an additional, deeply human meaning. It was not only a recognition of a discovery that changed science, but also an acknowledgme

What does the diagnosis of rare or ultrarare disease mean? The Diagnostic Odyssey Imagine watching your child struggle with unexplained symptoms for years, visiting specialist after specialist, and still not having an answer. This is the reality for many families facing the "diagnostic odyssey" of rare or ultra-rare diseases. On average, it takes around eight years to receive a diagnosis for a rare or ultra-rare disease. This delay isn’t surprising, given that there are appro

Born in 2018 Let me introduce you to our incredible son, Albert – the inspiration behind our involvement with AGO Alliance and the creation of AGO Alliance Poland. Today, on 31 January 2024, Albert is 6 years and 3 months old. He lives with Ago1-syndrome and autism, which have shaped many aspects of his life. Albert faces intellectual and learning disabilities that affect his daily experiences, along with feeding challenges and epileptic changes. Intellectually, he functions