By one and a half years, most toddlers were walking, starting to talk, and eating on their own.
But at 19 months, Lucas Guo never crawled, walked or stood up on his own. He makes noises but can’t say words and finds it difficult to chew and swallow, so he gets most of his food through a tube connected to his stomach.
The Massachusetts boy suffers from one of the rarest diseases in the world, ZTTK syndrome, of which only 60 cases have been reported and it is estimated that it affects, at most, several hundred people worldwide.
The complicated neurological disorder caused by a spontaneous genetic mutation can cause seizures, autistic behavior and slow development. There is no projected life expectancy.
And because so few people suffer from it, there is little incentive for drug makers to invest hundreds of millions of dollars in finding a treatment, leaving sufferers without help.
Hours after Lucas was born, in July 2022, he stopped breathing and had to be resuscitated
Lucas spent the first weeks of her life in the neonatal intensive care unit at Brigham and Women’s Hospital.
Lucas’ parents, Ada Lio and Nathan Guo, have decided to take matters into their own hands and are trying to raise $10 million to develop a treatment or cure over the next five years.
So far, they have raised more than $150,000.
The couple spends about 40 hours a week, on top of their full-time jobs, reaching out to scientists, investors, nonprofit groups and parents of children with other rare diseases for advice, support and donations.
“We are very confident that it is possible to find a treatment or a cure for Lucas and other patients,” said Ms. Lio. said the Boston Globe.
“What we are trying to do is bend the curve of time by working hard with scientists and other collaborators in this ecosystem to accelerate understanding.”
When attracting potential donors, they give a presentation explaining possible approaches to treating ZTTK, such as gene therapies and gene editing.
And to learn more about the disease and research a possible treatment or cure, parents review the very limited scientific literature on ZTTK, including case studies from around the world.
Since its discovery less than a decade ago, doctors have learned very little about the disease, even if it will shorten Lucas’s life.
However, it has already caused him a multitude of health problems, including a cleft palate that he had surgically repaired, a heart defect, weak muscle tone, farsightedness and developmental delays.
He sees more than 10 specialists with appointments every day of the week, as well as therapists who help him with speech, feeding and coordination.
ZTTK wasn’t discovered until 2016, said Dr. Timothy Yu, a neurologist and genomics specialist at Boston Children’s Hospital, who advises Lio and Guo.
“We are discovering genetic syndromes faster than we can generate knowledge about them,” he said.
Guo and Lio are trying to raise $10 million, having raised more than $150,000 so far.
Hours after Lucas was born, in July 2022, he stopped breathing and had to be resuscitated.
She spent the first weeks of her life in the neonatal intensive care unit at Brigham and Women’s Hospital.
Initially, doctors couldn’t determine why he was having difficulty breastfeeding or drinking formula.
Suspecting something was wrong, they did a genetic screening test seven months later, known as whole exome sequencing, which showed that one of two copies of a gene called SON was not working properly in Lucas.
This would have impacted the development of his organs. The genetic mutation is not inherited but occurs spontaneously after conception.
Scientific literature has shown that mutations in the SON gene cause ZTTK symptoms.
The disease is named after the surnames of four scientists who wrote articles on the disease (Zhu, Tokita, Takenouchi and Kim) in 2023.
While advances in genetic science have allowed researchers to identify the causes of rare and complex diseases, they often cannot offer treatments.
In the United States, a disease is classified as rare if it affects fewer than 200,000 people.
According to the National Organization for Rare Diseases, 95 percent of rare diseases have no treatment and most have a genetic cause.
ZTTK, however, is not just rare, but super rare, meaning pharmaceutical companies are unlikely to invest the hundreds of millions of dollars needed to develop treatments.
Research into a new drug begins in the clinic, where scientists undergo laboratory and animal testing to ensure the safety of a therapy in humans.
Some require hundreds of millions of dollars to develop and sometimes require an investment of decades to conduct clinical trials.
“We’re obviously still learning a lot about this condition (and) we’re learning from Lucas,” said Dr. Jessica Martin, Lucas’ primary care pediatrician at Children’s Hospital, who had never treated anyone diagnosed with ZTTK before the boy. became his patient.