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Rare Disease Symposium connects families, doctors and scientists looking for answers

Gracie Omler and her son Damian, 13, attend a program for people with rare diseases organized by Sanford Burnham Prebys.
Gracie Omler and her son Damian, 13, attend a program for people with rare diseases organized by La Jolla-based Sanford Burnham Prebys.
(Nancee E. Lewis)

Sanford Burnham Prebys of La Jolla and nonprofit CDG-CARE organize the gathering to help families dealing with rare ailments know they’re not alone.

For Diana and David Papworth, it took 33 years to get a definitive diagnosis of the disorder afflicting their two children.

Since birth, Shaun Papworth, now 39, and his sister, Lauren, 37, had poor muscle tone and delayed development. Both suffered grand mal seizures by the time they were 16 months old.

For years, neurologists were baffled. The best nomenclature they came up with was undiagnosed seizure disorder with developmental delays, mild cerebral palsy and autism.

“We were in uncharted waters. We did all kinds of research trying to figure out what they had,” Diana said. “At first with Shaun, the doctors told us there was a one-in-a-million chance it would ever happen again. It was OK to get pregnant. And then when Lauren was born, it was, ‘Oh, it’s genetic.’”

The San Diego family joined about 200 other people last weekend at The Dana on Mission Bay hotel for the 12th annual Rare Disease Symposium organized by the La Jolla-based Sanford Burnham Prebys research institute and nonprofit parent organization CDG-CARE.

Standing from left, Lauren Papworth, "Frozen" characters, scientist Hudson Freeze, Shaun Papworth and Grace Thoma
Standing from left, Lauren Papworth, “Frozen” characters, Sanford Burnham Prebys scientist Hudson Freeze, Shaun Papworth and Grace Thoma attend the 12th annual Rare Disease Symposium.
(Nancee E. Lewis)

The two-day conference wrapped up Feb. 27 with a family event that brought together parents and children with doctors and researchers working on conditions related to CDG, or congenital disorders of glycosylation.

CDG involves mutations that affect the addition of sugar building blocks, called glycans, to proteins in cells throughout the body. The addition of glycans to proteins is critical to the healthy function of cells.

Estimates place the number of patients diagnosed with the most dominant subset of CDG at over 1,000, but the true number is probably higher.

There are at least 170 subsets of CDG — with many of them very rare, said Hudson Freeze, a professor of human genetics at Sanford Burnham Prebys and chairman of the Rare Disease Symposium.

The family event aims to help those dealing with the uncommon disorders know they’re not alone.

“You have the opportunity, because of social networking, because of family support groups and because we have meetings like this, to have a place to belong,” Freeze said. “That is the thing that makes the difference.”

Damian Omler, 13, has been attending the conference every year since 2016 with his parents, Donnie and Gracie Omler of Linda Vista. Damian is the only known patient in the world with the mutation known as GET4-CBG.

Damian is nonverbal. He is getting ready to start high school next school year. The Omlers attend the conference to learn and be part of the community with people in similar circumstances, Donnie said.

Because CDG-based diseases are so rare, drug companies typically don’t invest in research or drug trials. Regulators follow “rather stringent criteria” for evaluating drugs that were approved for other ailments but might benefit people with CDG, Freeze said.

“When 20 people in the country have a disorder and you insist on placebo-controlled experiments ... the FDA is kind of hamstringing this,” Freeze said. “It is clear that there are some fairly simple, straightforward therapies that could be put in operation pretty quickly.”

Advances in testing found that Shaun and Lauren Papworth had a subset called ALG 3-CDG. When they were diagnosed six years ago, they were the 15th and 16th people in the world identified with that mutation.

“It was scary,” Diana said. “We didn’t know what to expect. We didn’t know what things would come up.”

She tried vitamin therapies and removing wheat from her children’s diets. There were many sessions with physical, occupational and speech therapists.

But today Lauren has outgrown her seizures and is no longer on medication. She helps at a stable, among other activities. Shaun, who likes to wear rings and play drums, remains on medication. But he’s been seizure-free for four years and works part time a few days a week.

“Because our children are the oldest in the subset, we have parents who look to us with questions,” Diana said. “I had three different mamas come up to me and say that when they see our kids, it gives them so much hope for their children.” ◆