SEATTLE – It took Karen Park and Peter Lorentzen more than a year to decide to post details of their 3-year-old son’s rare genetic condition on social media – but it took just six days to hear back from another family whose child shares one of Milo’s anomalies.
When Bo Bigelow and Kate McCrann put up a website about their daughter, Tess, 6, who has another little-known genetic mutation, a doctor who studies kids with the same problem wrote back within 12 hours.
“We are so thrilled that we are laughing and crying at the same time,” Bigelow wrote in a blog post about that day. The two families, who live on opposite coasts – one in San Francisco, one in Portland, Maine – say they now understand the power of publicly sharing their families’ most personal information.
That’s why they’re among the first to join a new University of Washington website that aims to combine the massive reach of the Internet with genetic data to help families facing undiagnosed rare diseases find answers.
Without a diagnosis, there’s no prognosis,” said Park, the San Francisco mother of Milo, now 5, who has significant developmental delays and physical problems, but no identified cause.
The site, called MyGene2, went live in March and now has more than 100 profiles posted by families, researchers and clinicians – with more added daily. It’s one of the first advanced, searchable platforms that makes it easy to share clinical and scientific information about genetic mutations that may underlie unknown conditions.
“There are tens of thousands of families with information sitting in silos,” said Dr. Michael Bamshad, a UW professor of pediatrics and chief of the division of genetic medicine, who co-founded the site. “One of the obstacles to gene discovery is the sharing of data.”
For years, even decades, some families have endured what Bamshad calls the “diagnostic odyssey,” trying multiple doctors and tests in their search for a definitive cause for unusual conditions. In cases where they were offered gene testing and a little-known mutation was detected, the results might be published in a medical journal seen by a limited audience, if at all.
That slow process has delayed discovery of genes that underlie so-called Mendelian disorders, named after Gregor Mendel, the Austrian monk who first identified the basic rules of genetics in the 1860s. They are conditions that typically rise from mutations in a single gene, often passed on through family inheritance.
Of some 8,000 Mendelian conditions, scientists have identified genes for only about half, Bamshad said.
Accelerating the pace of discovery is one goal for the new website, said Jessica X. Chong, analysis group leader for the UW Center for Mendelian Genomics. It’s a repository for a wealth of information, from results of whole exome sequencing to photos and personal essays that describe the impact of a disorder on a patient’s life.
“You can put (information) up on MyGene2 in 30 minutes, but a paper might take a year,” Chong said. “With this, families have the same access that researchers have.”
That’s important to Park, 45, a financial adviser, and Lorentzen, 44, an assistant professor of political science at the University of California, Berkeley, who suspect that mutations in two genes, KDM1A and ANKRD11, may be responsible for Milo’s differences.
Such mutations are so rare, however, that there’s been little research and scant awareness.
The couple, who have two other sons without genetic problems, kept Milo’s condition private for a long time. But they, like Bo Bigelow, read a 2014 New Yorker magazine story about a child with an ultrarare disease and his parents’ quest to find a cause.
That inspired them to create a website, Milo’s Journey, and to post their son’s story on social media. That quickly led to the discovery of two other children, one in the U.S. and one in another country, with the KDM1A mutation.
Locating others will be key to Milo’s future, said the couple, the first family to post on the MyGene2 site.
“In the world of ultrarare disorders, at the end of the day, it’s parents who are going to identify other families and these super-rare syndromes that don’t yet have names,” said Park.
Finding a community
Sharing information might provide a bigger pool of patients for research, and more support for families, said Bo Bigelow, whose daughter, Tess, has a rare mutation in the USP7 gene. She’s 6, but functions at about the level of an 18-month-old – and doctors can’t say why.
“For us, it’s all about community,” said Bigelow, 42, a lawyer in Portland, Maine, who created a blog and podcast about his daughter. “When you have a child with a rare disease, you have no community at all. You’re alone in the world. You come to believe that you’ll always be alone.”
Bamshad and his collaborator, Debbie Nickerson, a UW professor of genetic sciences, hope that thousands of families, clinicians and researchers eventually will learn about the site and start posting to it, boosting the number of potential matches.
Dr. Heather Mefford, an associate professor of pediatrics in UW’s division of genetic medicine, said she plans to use the site, but volume will be key.
“I work on epilepsy and we need several hundred cases to find multiple patients with mutations in the same gene with rare disorders,” she said. “Once you have a critical mass of patients, you might start to make some progress.”
The site could benefit not just youngsters like Milo and Tess, but also families of people such as Steven Payne, 28, of Charlotte, N.C. He was born in 1987 with physical and developmental problems that doctors could never diagnose, said his mother, Judy Payne.
“You feel for him because there’s not people like him,” she said.
Advances in science eventually helped identify deletions in certain chromosomes that may be responsible, but after nearly 30 years, there’s still no definite diagnosis.
Judy Payne submitted her son’s information to MyGene2 last month because she’s still looking for answers.
“That’s what I’m hoping for,” she said. “Even if they’re little kids, I don’t care. I just want to find someone else who has something similar.”
Subscribe to the Coronavirus newsletter
Get the day’s latest Coronavirus news delivered to your inbox by subscribing to our newsletter.