SAN DIEGO _ Every parent sees their child as "one of a kind." But in the case of 11-year-old Damian Omler of San Diego, even scientists from the National Institutes of Health agree about the boy's unique qualities.
Damian was born with CDG, an acronym for Congenital Disorders of Glycosylation, a large family of rare genetic metabolic disorders affecting the body's chemical processes. About 1,500 patients worldwide have been diagnosed with CDG. But Damian is the only patient in the world with the mutation known at GET4-CDG.
Damian and his family are among more than 250 people from around the world who gathered this weekend in San Diego for the biennial Rare Disease Day Symposium 2020. The two-day conference, which opened Friday and continued Saturday at the Dana Hotel on Mission Bay, brought together dozens of families like the Omlers with CDG researchers and clinicians from the U.S., Spain, Japan, England and France.
The symposium was sponsored by the Sanford Burnham Prebys Medical Discovery Institute, a La Jolla biomedical firm that is working on treatments for rare childhood diseases. The event was chaired by Hudson Freeze, director and professor of the Human Genetics Program at Sanford Burnham Prebys.
It was through Freeze that Damian's parents _ Donald and Gracie Omler of Linda Vista _ were able to travel with their son to NIH headquarters in Bethesda, Md., in August 2018 for days of tests that determined his unique mutation. Donald, 38, said learning the secret to their son's lifelong health problems was like a light bulb being turned on after many years in the dark.
"When we first started to look for answers about what was wrong with Damian, the first five or six years involved a lot of time in the shadows," Omler said. "It wasn't until 2016, when we met Dr. Freeze at the first symposium, that the floodgates really opened. That's when we found there was a whole community out there and an opportunity to meet other families dealing with CDG."
CDG involves disorders of glycosylation, which is the process in which the body builds "trees" of sugar molecules which attach themselves to lipids and protein molecules to form enzymes and other substances that enable organ and tissue functions. A mutation in this process can cause damage to the liver, heart and other organs and tissue.
In Damian's case, the disease has caused him to have low muscle tone and reduced fine motor skills, so he uses a wheelchair. He cannot speak, write, do math or most academic activities and his body's fast-burning metabolism requires a gastronomy tube to supplement his food intake. Because Damian requires full-time care, Gracie, 35, gave up her career in 2010 to be his caregiver. Donald manages a CVS Pharmacy store.
Because Damian's mutation is unique, doctors don't know his long-term prognosis. But so far he has been spared the liver and heart damage seen in children with other mutations.
"We're grateful he hasn't had any of the major issues like other CDG kids dealing with major organs. But beyond that, it's all unknown," Omler said. "It scares Gracie and I that we don't know what will come with this specific mutation."
Freeze said that since Damian received his diagnosis of GET4-CDG, he has scoured the world for patient No. 2, "but we haven't found anyone."
"We hope that by sharing this knowledge more people will come forward and we might find someone else with GET4-CDG. This is the first Rare Disease Day symposium Damian and his family will attend where they have a definitive answer. Before, they were only able to say he has 'a type of CDG.' So it's a very exciting symposium for many reasons and we might be able to help others who still don't have a diagnosis."
Looking back, Omler said that he and his wife realized there was something wrong with Damian when he started missing his developmental milestones in his first year. When he was 3 years old, the family met Dr. Bruce Barshop, a metabolic geneticist at Rady Children's Hospital, who was the first to determine Damian had a glycosylation disorder. CDG is randomly occurring, but both parents must carry the gene associated with it. The Omlers' 9-year-old son, DJ, does not have CDG but he does have that carrier gene.
CDG is what's known as an orphan disease, meaning it's so rare that drug companies typically don't invest in research or drug trials. Omler said many doctors told him and Gracie to classify Damian's disorder as "cerebral palsy-like" so they'd have better luck getting insurance-funded equipment and therapies.
Because of the challenges the Omlers have faced in finding information and specialists on their son's disorder, they're grateful for the international community of families they've met at past Rare Disease Day events in Argentina and Portugal.
"It's amazing how close-knit everyone is in the community," Omler said. "Whenever anyone in the community has a child with an issue or who is sick, you can be consoled by all the different parents who know what this is about and everything else. It's a great tool to have. We basically treat each other like family. If something happens to one of their children, we react as if it's one of our own."
This year's symposium featured two days of sessions on research, drug discovery and clinical trails for different disorders. Freeze said that many people don't realize that rare diseases, collectively, are very common. One in 10 Americans, about 30 million people, have a rare disease.
"You likely have a loved one, friend, neighbor, colleague or someone else in your life who has a rare disorder," Freeze said. "Rare Disease Day is an important day to speak out and educate ourselves about this large group of unexpectedly common conditions."
Omler said he and his wife are always excited to reconnect with other CDG families and stay on top of the latest research at the gatherings. And now, as veterans of the symposium experience, they like to serve as mentors for families who are new to the process.
"It's really intriguing to meet the new families," he said. "They come in and look like deer staring in the headlights. It's a lot to take in. We find great joy in welcoming those families into the community. It's humbling. We were them once. We were that family who didn't know what to expect. Now we like to sit there and hear all the great stories of what's happening to these families."
