Rare disease gathering connects families, doctors, scientists looking for answers

SAN DIEGO –

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

Since birth, Shaun Papworth, now 39, and his sister Lauren, 37, exhibited 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,” said Diana Papworth. “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 200 or so people this weekend for the 12th annual Rare Disease Symposium, sponsored by the Sanford Burnham Prebys Medical Discovery Institute and held at a Mission Bay hotel.

Standing from left, Lauren Papworth, Frozen characters, scientist Hudson Freeze, Shaun Papworth and Grace Thoma.

(Nancee E. Lewis / For The San Diego Union-Tribune)

The two-day conference wrapped up Sunday with a family event that brought together parents and children with doctors and researchers working on conditions related to CDG — Congenital Disorders of Glycosylation.

CDG is related to 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 exceedingly rare, said Hudson Freeze, a professor of human genetics at the Sanford Burnham and chair of the Rare Disease Symposium.

The family event aims to help those dealing with these uncommon disorders know that 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,” said Freeze. “That is the thing that makes the difference.”

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

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

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

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

“We had no one like us,” said Diana Papworth. “It was scary. 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 therapists, occupational therapists 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,” said Diana Papworth. “I had three different mamas come up to me and say when they see our kids, it gives them so much hope for their children.”

source https://www.bisayanews.com/2022/02/28/rare-disease-gathering-connects-families-doctors-scientists-looking-for-answers/