In the two years since the birth of their son Lucas, Ada Lio and Nathan Guo have become fierce advocates for the development of a therapy for ZTTK, an ultrarare neurodevelopmental disease with no known cure or treatment. Lucas began showing symptoms of the disorder shortly after birth, but the symptoms of ZTTK are varied and broad, making it hard to diagnose. Patients can exhibit random and multisystemic symptoms including intellectual disabilities, speech and motor delay, seizures, feeding difficulties, changes to the facial structure and loss of muscle tone.
In many ways, as Ada recounted at MassBio’s Rare Disease Forum, they were lucky: Lucas was born in Boston at Brigham & Women’s Hospital, which provided the family with access to some of the best doctors and diagnostics in the world, which eventually included the exome sequencing test that confirmed Lucas’s diagnosis at 8 months old.
“As many of you know, this is lightning speed compared to the [typical] five to seven years of diagnostic odyssey,” Ada said, referring to the often long, arduous and expensive journey rare disease families experience to get to a diagnosis. But the family nevertheless hit a wall. “We were told by the doctors – there are no cures, there are no treatments. There is very little known about your son’s disorder.”
In response, like many families living with a rare disease, Ada and Nathan added “advocates” to their rapidly expanding list of responsibilities, which in their case already included “full-time professionals”, “first-time parents” and “always-on caregivers.”
Ada and Nathan spoke from their hearts to an audience of researchers, advocates, patients and leaders in the rare disease industry. They explained that the rare disease advocate’s journey is often lonely, and the challenges can feel overwhelming, leaving families, at times, feeling hopeless.
“Ada is a glass-half-full kind of person. I am very critical. Some might describe me as a pessimist,” said Nathan. He found hope by doing research. “A lot started with Ultragenyx’s Rare Bootcamp. The reason we have hope is because we’ve seen other successes, and we believe there will be more successes as well.”
Rare Bootcamp, a multi-day forum sponsored by Ultragenyx that the family heard about through word of mouth, was started in 2017 to support and empower families as they step into their role as advocates for their children and seek to develop life-changing rare disease therapies. Families receive practical, actionable guidance on everything from starting a non-profit to finding partnerships with companies developing treatments and learn tools and strategies to help spur industry research and development. Each intimate session of Rare Bootcamp gives a small group of parents (who attend for free, thanks to generous sponsors) the opportunity to engage with 15-20 additional parents and other patient advocates that are actively funding research and/or pursuing potential therapeutic approaches.
For the more than 100 families that have participated over the years, it is a way to find shared purpose, new directions and hope – which can be hard to find without a community whose members possess similar experiences.
“We try to help as many families as possible,” said Matt Fuller, Head of Gene Therapy Research at Ultragenyx, a biopharmaceutical company committed to bringing novel therapies to patients for the treatment of serious rare and ultrarare genetic diseases, whose gene therapy headquarters is in Massachusetts. “But I think it’s truly a failure of the larger system that we have to do it.”
Ada and Nathan now attend Rare Bootcamp as community leaders, paying their experience forward and supporting other families that previously felt isolated by helping create novel ways to partner toward shared goals.
“Rare Bootcamp provided us a roadmap – here’s how to develop clinical models, here’s how to think about endpoints and biomarkers, here’s how you should think, ultimately, about clinical trials and manufacturing,” said Nathan. “For our community, there are still a lot of unknowns. But we are not the first parents to go through this. We must talk to the trailblazers to understand – this is where you should focus your time and energy.”
Ada and Nathan are also part of the ZTTK SON-Shine Foundation – Ada is the Executive Director and Nathan is the Scientific Director – which works to improve the lives of individuals with ZTTK by accelerating research to develop accessible and effective treatments and, ultimately, a cure. The foundation focuses on funding cutting-edge science, building strong support systems for the global ZTTK community, and raising awareness about ZTTK syndrome.
Their commitment to their son Lucas and the rare community is tireless.
“We’re so committed to work so hard for him,” said Ada. “I believe that working with patients, parents and patient advocacy groups is so important because we are the patients’ voice, and we’ll do everything we can to help our children.”
Nathan closed by reminding MassBio companies of the impact they have and the way they influence the world, drive access and align constituencies. “We can increase how possible it is to really help and save our kids. It’s good for business. It’s good strategy and, most importantly, it’s the right thing to do.”
