International CDG conference fuels hope and connection
By Deanne Jeffers
CDG Awareness Day is May 16, and for local mother Amy Dann, it’s a time to raise awareness and celebrate progress for a cause close to her heart. Amy’s son Louis was diagnosed with Congenital Disorders of Glycosylation (CDG) in 2018, a rare disease affecting a complex process in the body called glycosylation. Glycosylation involves attaching sugars to proteins and fats, which is crucial for many bodily functions.
Driven by a desire to help Louis and others with CDG, Amy and husband Michael have become a champion for the cause. This year, Amy attended the global CDG conference in San Diego, an experience that proved to be both informative and deeply impactful.
“When Louis was diagnosed five or nearly six years ago, there was probably only less than 100 types of CDG. There are 190 types of CDG now. One of the leading specialists on CDG commented that the science and research is moving so fast, but the actual clinical trials and the things that we can do and the level that can be transferred to patients isn’t.
“We learned about different research methods and treatment options specific to Louis’ type,” Amy explained. “This wouldn’t have been possible without connecting with specialists at the conference.” The limited number of known cases in Australia for Louis’ specific type underscores the importance of global collaboration.
The conference wasn’t just about medical knowledge. Amy describes the profound sense of community she found. She said, “Meeting other families facing similar challenges and doctors who genuinely care about improving the lives of kids with CDG – it was incredibly emotional.”
Now in her second term as a board member for CDG Cares, Amy is leveraging her growing knowledge to advocate for fundraising, research, and resources for the CDG community.
But the impact goes beyond advocacy. Amy emphasised the importance of connection. “Even though we are amazingly supported locally by our family, we’re still pretty isolated and we don’t know a lot of people like us.
“It was pretty overwhelming seeing kids that look like Louis and their parents and being like, ‘you get it.’ I know how you feel, and you know how I feel; it was kind of a unique experience and I want Michael to be able to have that as well, so I think we’ll aim to go back together for the next conference in two years.”
