As pharmaceutical companies often shy away from investing in treatments for ultra-rare diseases, a growing number of parents are taking matters into their own hands, spearheading research and fundraising efforts to find cures for their children’s conditions. This story profiles one Swiss couple’s determined journey to develop a gene therapy for their son’s newly diagnosed and incredibly rare disorder, Asparagine Synthetase Deficiency (ASNSD), and highlights a rising global trend of parent-led scientific initiatives. their experience underscores the challenges and triumphs of navigating the complex world of rare disease research and the lengths to which families will go in pursuit of hope.
Gentests ergaben, dass Erik an ASNSD leidet – einer seltenen Erkrankung, die neurologische Probleme verursacht.
Aylin Elci, Swissinfo
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February 2, 2025, was the worst day of Mariann Vegh’s life. She had just returned from a walk in her neighborhood in Trélex, in western Switzerland, with her five-month-old son, Erik, peacefully sleeping in his stroller. Then, he woke up, suddenly convulsed, and struggled to breathe. By the time the ambulance arrived, the seizure had already passed, but the feeling of helplessness burned into Mariann.
“It only took eight minutes for the paramedics to arrive, but it felt like an eternity,” Mariann, marketing director for a consumer health company, told Swissinfo. “I still hear my voice desperately calling Erik’s name.”
Over the following two weeks in the hospital, where doctors ran various tests to determine the cause, Erik suffered further seizures. Blood tests and MRI scans revealed nothing unusual.
The answer came two months later. Genetic testing revealed that Erik has Asparagine Synthetase Deficiency (ASNSD), a rare inherited disease caused by a mutation in the ASNS gene that leads to severe neurological problems. The condition is recessive, meaning both Mariann and her husband, Balázs Karancsi, have passed on the mutated gene.
The doctors treating Erik had never encountered ASNSD before. Online, they found only 40 people worldwide ever diagnosed with the disease – not a single one in Switzerland. The few published articles about ASNSD reported children dying before their first birthday. This scarcity of research highlights the challenges of addressing ultra-rare diseases, where limited patient populations hinder traditional drug development.
There is no cure. Doctors suspect that Erik, now 15 months old, has a milder form of the disease. While he can take medication to control the seizures, the condition carries a poor prognosis. It can lead to blindness, severe developmental delays, and, in severe cases, death.
Mariann Refused to Give Up
“I felt like the doctors were taking all hope away from me,” she said. “They tell you there’s nothing you or anyone can do because they can’t find any information about the disease. But that’s just not true. I said, ‘I don’t accept that.’”
Doctors ran a series of tests to determine what was causing Erik’s seizures, but initially nothing unusual was found.
Mariann Vegh
Mariann sent around 200 emails to doctors, parents of children with rare diseases, and anyone in her network who might know something about rare conditions.
The couple increasingly believed a therapy could be developed, but they didn’t want to wait for others to do it. “You get to a point where you believe you can actually find a way to develop a drug yourself,” Mariann said.
The couple founded the ASNSD Research Association to find more people with the disease, raise funds, and centralize research. They found an ally in Roxane van Heurck, a geneticist at the University Hospital of Geneva, who brought together experts to research various projects.
The couple now takes courses in drug development, meets with scientists, and connects online with other families while also caring for Erik and his older brother, Mark.
They are also facing a growing mountain of insurance and medical bills and are trying to raise 500,000 CHF to fund research. Their primary goal is to develop a gene therapy that can correct or replace the defective ASNS gene.
Mariann and Balázs are trying to raise 500,000 CHF to start research for a gene therapy for ASNSD.
Aylin Elci, Swissinfo
Parents as the Driving Force
What Mariann and Balázs are driving is unusual in Switzerland and many other parts of the world, though common in the US. Experts who spoke with Swissinfo noted that only a few affected individuals in Switzerland have previously attempted to develop a drug for a rare disease themselves. However, growing desperation among parents over the lack of treatment options, improved access to fundraising platforms like GoFundMe, and new medical breakthroughs are increasing interest.
Worldwide, over 7,000 rare diseases are known, affecting at least 300 million people. However, only 5% of these diseases have an approved therapy. Most of these therapies address more common rare diseases like cystic fibrosis.
Nano- or ultra-rare diseases, affecting fewer than 100 patients, are largely ignored by pharmaceutical companies. “If a disease affects only one in 100,000 people, as is the case with ASNSD, pharmaceutical companies are not interested,” Mariann said.
Gene therapy aims to repair a defective gene or replace it with a healthy gene to cure a disease or enable the body to fight it better. In 2017, the US Food and Drug Administration (FDA) approved the first gene therapy.
But with the emergence of new technologies like gene therapy, parents are growing hopeful that treatments and even a cure are possible.
“Gene therapies are a paradigm shift,” said Bernard Schneider, chief scientist at the Bertarelli Foundation’s Gene Therapy Center at the École Polytechnique Fédérale de Lausanne (EPFL), who is collaborating with the couple. “These therapies used to be considered too risky, but we’ve learned a lot and are now confident they can work.”
In 2016, Christine R.’s son was diagnosed with FOXG1 syndrome – a rare genetic developmental disorder of the nervous system caused by a mutation in the FOXG1 gene. At the time, only 100 cases were known worldwide.
Similar to Mariann, Christine also decided to take action. “A small group of parents agreed that no one would ever research this gene unless we took the initiative ourselves,” Christine, who lives in western Switzerland, told Swissinfo.
She contacted Olivier Menzel, a Swiss molecular biologist who founded the BLACKSWAN Foundation in 2010 to research rare diseases. He worked with Christine to create a framework for FOXG1 research, establish a scientific advisory board, and develop a fundraising process.
Parents of children with rare diseases are already doing more than most parents caring for a sick child. They are also raising funds for research.
Aylin Elci, Swissinfo
In 2017, Nasha Fitter and Nicole Johnson in the US founded the FOXG1 Research Foundation, building on the initial, Europe-funded research.
The foundation, which has already raised over $17 million USD, is now a global, parent-led nonprofit developing the first gene therapy for FOXG1 syndrome. It funds its own 20-scientist lab and is on track to begin clinical trials in 2026.
It’s not alone. Parent-led groups like the PACS2 Research Foundation and the international SCN8A Alliance are attracting top researchers who collaborate with peers to publish peer-reviewed studies and provide scientific advice to parents and doctors on managing diseases. Some, like Mila’s Miracle Foundation in the US for Batten disease, have even seen their therapies approved.
“Parent-led research groups are now recognized players in scientific research and drug development,” said Menzel. “For rare diseases, there are no specialized experts. The experts are the patients themselves or their parents, because they experience the disease every day.” He added, “And no one will drive this research if the parents don’t.”
