Families find answers, and community, through the Undiagnosed Diseases Network – Scope

An article in Stanford magazine tells the stories of four families, their quests for answers, and the hope they found through the Undiagnosed Diseases Network, a research initiative created by the National Institutes of Health that now has a dozen clinical sites, including at Stanford.

The Millers

Danny Miller noticed that his infant son, Carson, was developing differently from other babies, but tests by neurologists and behavior specialists detected nothing unusual. His own research led him to suspect cerebral palsy, and doctors agreed, diagnosing Carson when he was 15 months old.

But when the Millers' second son, Chase, began to show similar symptoms, cerebral palsy seemed unlikely for both boys. The condition occurs in about two out of 1,000 births; and the odds of both of the Millers' sons having it were one in a million.

'It was very scary,' Miller says, recalling the years of searching for answers and coming up empty. 'As a parent, you go through a lot of self-doubt, a lot of blame. You wonder, 'What did we do wrong?' ... We were both really determined to try to find answers, and we weren't getting them.'

The Millers' luck changed when they were admitted to Stanford's branch of the Undiagnosed Disease Network. There, whole-genome sequencing revealed that both boys had a genetic disease known as MEPAN syndrome that caused their mitochondria -- the parts of cells that produce energy -- to function poorly, leading to severely impaired movement.

The network put the Millers in contact with other people with MEPAN syndrome. As the article reports, "Miller acknowledges how scary it was to find out that their sons have a rare genetic condition with no proven treatments, but he was relieved to know what they faced."

The Wongs

Lauren Wong's story is similar. She and her fraternal twin, Nathanial, were born prematurely in 2015. When her parents noticed that Lauren wasn't developing normally, the family neurologist diagnosed cerebral palsy, but later ruled it out.

Lauren was accepted at the network in 2017 and within a month, the team at the Stanford center identified a defective a copy of a gene called ALG13. As it turns out, at least 40 to 50 other children in the world -- most of them girls -- have the same mutation. Some were like Lauren, who has severe cognitive and physical challenges and is fed via a tube in her stomach. Others were more active, and one was even able to walk and run.

As Lauren's mother, Mary Wong, says in the article:

Even with the diagnosis, we're still not sure where this is going to take us. But at least we have a group of people that have the same diagnosis, and we can go to them for advice.

The Villaneuvas

Shortly after Anahi Villanueva's birth, her mother noticed that she was just sleeping -- "She didn't even cry." Doctors soon realized that Anahi had gone into a coma. Blood tests results indicated a heightened level of lactic acid, a hallmark of mitochondrial disorders.

The network accepted Anahi when she was 6. When she was 9, doctors diagnosed a new mitochondrial disorder based on a genetic mutation she had that had been previously undocumented in scientific literature.

Anahi's allows her to walk and speak as long as she avoids taxing activities. Though Anahi now has a diagnosis, she is one of only two people with her condition. Their symptoms and mutations aren't exactly the same, so it remains unclear how her disease will progress in the future.

The Bejars

Miguel Bejar was born in 2015 with heart deformations that limited his blood flow. Doctors successfully performed heart surgery, but three months later, new symptoms appeared and a genetic test indicated a rare chromosomal anomaly. As he grew older, doctors discovered that Miguel's brain was underdeveloped, and his muscles were weak. As a preschooler, he fell easily and still couldn't speak.

Miguel's father, who works as a lead operating room assistant at Stanford Health Care, applied to the Undiagnosed Diseases Network in 2018 and Miguel was accepted within weeks. The network team is sequencing his DNA and looking for multiple syndromes that could explain all of Miguel's symptoms.

While Miguel's father awaits the results, he tries to reconcile the pain of uncertainty with the tenderness he feels for his son. As he says in the article,

[I]t's one of the best experiences, taking care of a child with necessities. It brings the best out of your human side. You go beyond a lot of your limits on the way you love life, and the way you appreciate life and people.

Photos by Timothy Archibald

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Families find answers, and community, through the Undiagnosed Diseases Network - Scope