Chelsea’s Hope, an advocacy group for families affected by Lafora disease, is rallying support from around the world to help fund a pivotal moment in rare disease research – the first safety study for a drug that could slow or stop the progression of the disease.
Lafora disease is a rare and aggressive genetic neurodegenerative disorder, with an estimated global prevalence of just four cases per million. It typically begins in early adolescence as epileptic seizures, before advancing into severe cognitive decline and ultimately death, within 10 years. Families are faced with the heartbreak of watching their child’s abilities rapidly fade, with few options for treatment or support.
Now, a study being run out of Dallas, Texas is offering rare hope for sufferers and their families. It’s the first time this treatment is being tested in humans, to help slow or stop the progression of the disease. The first patient received their first dose of the drug known as ION283, in December 2024, with some positive early results.
But the financial challenge is substantial. So far, funding has been reached for six of the 10 children able to take part in the study, but the team urgently needs to raise a further $500,000 by June 2025 to ensure the final four children can participate.
Niki Markou, a Sydney-based mother and long-time advocate, knows the stakes all too well. Her daughter was diagnosed with Lafora disease in her early teens. In the years since, Niki has worked tirelessly to support research, build international networks, and push for medical breakthroughs. Tragically, her daughter has now progressed too far to benefit from this trial. Yet, Niki remains at the forefront of the campaign, determined to give other families a fighting chance.
“I may not be able to help my daughter now, but I can still help others. No parent should face this without hope,” Niki says. She shares more of her story in this video.
Chelsea’s Hope has spent over a decade advocating for the Lafora community, funding critical research, and supporting families around the globe. The group believes this drug study could eventually lead to a viable treatment for the disease. It’s a rare glimmer of hope in the experience of those impacted by Lafora, and they’re urging anyone wanting to support the cause to donate.
You can make a contribution here, or visit chelseashope.org to learn more.
