Key Takeaways
- Seizures and neurological symptoms can sometimes be caused by rare genetic conditions.
- When initial testing fails to identify the cause, genome sequencing may uncover answers.
- A genetic diagnosis can help families understand the future and guide treatment decisions.
- For Ben’s family, a genome diagnosis transformed uncertainty into advocacy and community support.
When Ben’s Symptoms First Appeared
Ben was a happy, healthy baby for the first six months of his life.
Then one morning Ashley heard him fussing and went to check on him.
As she laid him on the changing table, his body suddenly went limp and began to shake.
“Ben kind of left his tiny little body for a moment,” Ashley recalls.
Doctors initially believed the episode was a febrile seizure caused by a fever.
But it turned out to be the first of many seizures.
Searching for Answers
A CT scan revealed small calcifications on Ben’s brain, something doctors could not explain.
Over the next several years, Ben underwent numerous tests:
- EEGs
- MRIs
- blood tests
- a spinal tap
Yet doctors still could not determine the cause.
A genetic panel test was ordered but also came back inconclusive.
“No one could tell us why Ben was having these symptoms,” Ashley says.
The family was left with medications to manage seizures—but no explanation.
Living With Uncertainty
As time went on, Ben’s MRI scans showed increasing calcifications in his brain.
Without a diagnosis, doctors could not explain what was happening or how to stop it.
Ashley remembers being told to watch for signs of lost function.
Doctors warned Ben could potentially need a wheelchair by age ten.
But Ashley refused to accept uncertainty as the final answer.
She continued pushing for more testing and more information.
Genome Sequencing Provides an Answer
After seven years of searching, Ben finally received a genome sequencing test.
The test identified a variant in the SNORD118 gene, confirming a diagnosis of:
Leukoencephalopathy with calcifications and cysts (LCC), also known as Labrune syndrome.
Leukoencephalopathy with calcifications and cysts (LCC) also known as Labrune syndrome.
This ultra-rare condition affects the brain’s white matter and can cause seizures, movement disorders, and developmental challenges.
For the first time, Ashley had an explanation.
“Even though the prognosis was difficult, it came with an overwhelming sense of relief,” she says.
Now the family could understand what was happening and prepare for the future.
Moving Forward With a Diagnosis
Today, Ben uses a wheelchair as his doctors predicted years earlier.
But his family is grateful to finally have answers.
The diagnosis helped them:
- understand Ben’s condition
- identify medications that best control his seizures
- advocate for research and treatment options
“We have a path forward, even if it’s a hard one,” Ashley says.
When a Diagnosis Impacts the Whole Family
Genetic testing also revealed that one of Ben’s brothers carries the same SNORD118 variant, even though he had not shown symptoms.
Because Labrune syndrome can vary widely, some individuals develop symptoms early while others remain symptom-free for decades.
Now Ashley knows what signs to monitor and who to call if symptoms appear.
Turning Diagnosis Into Advocacy
Rather than letting the diagnosis define their future, Ashley decided to help other families facing the same rare disease.
She founded the LCC Foundation, a nonprofit organization dedicated to:
- supporting families affected by Labrune syndrome
- funding research
- building a global community
“Our mission is driven by our personal experiences and the unwavering love we have for our children,” Ashley says.
“With a diagnosis and a community, everything is different—and so much better.”
A Diagnosis That Created Purpose
“This diagnosis has given me power,” Ashley says.
“It’s given me drive. It’s given me passion. It’s given me a life purpose.”
“I feel like I found what I was meant to do.”
Inspired to Share Your Story?
Patient stories can help other families recognize the signs of rare disease and seek answers sooner.
