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Ben’s illness started with seizures when he was just six-months old. His mother, Ashley, never stopped searching for answers—and finally found them with a genome test.
October 24, 2024 • 5 min read
Ben was a happy healthy baby for the first six months of his life. Then one morning, Ashley heard him fussing and went into his room to see what was wrong. As she laid Ben on the changing table, his body went limp, his head rolled to the side, and he shook a little. Ashley recalls every painstaking detail. “Ben kind of left his tiny little body for a moment, and then the shaking stopped. We called an ambulance. The doctor thought it was a one-off febrile seizure from a fever.” Only it turned out to be the first of many seizures.
Ben’s CT scan revealed small calcifications on his brain. His doctors could not explain why. After numerous EEGs, MRIs, blood tests and even a spinal tap, Ben and his care team were still searching for answers. The next step was a genetics panel test, which also came back inconclusive.
“No one could tell us why Ben was having these symptoms,” Ashley says. “We were given anti-seizure meds and told that Ben should have an annual MRI. That was it. We were left hoping the problem would just resolve itself. We were filled with anxiety. It was just so scary.”
Ben’s next MRI showed additional calcifications. “Without a diagnosis, there was no way to stop the calcifications from spreading. Instead, the doctor told me to watch for any loss of function and said it was possible that Ben would be in a wheelchair by the age of ten.”
“I thought to myself there’s no way that’s going to happen. I wasn’t going to dwell on it, since it didn’t make sense without a diagnosis. I just kept asking for more information. I wanted to get to the root cause and understand why my child was ill. But the doctors could offer nothing more.”
The family lived with uncertainty. Ashley noticed Ben’s speech and motor skills declining. He started using a walker. She kept pressing the doctors for answers. And when she asked for another, more comprehensive genetics test, she got one.
The genome test identified a variant in the SNORD118 gene, which is associated with leukoencephalopathy with calcifications and cysts (also known as LCC or Labrune syndrome). LCC impacts the brain’s white matter, which plays a crucial role in transmitting information within the brain. The formation of calcifications and cysts in the brain can lead to seizures, dystonia, movement disorders, and global developmental delays, among others.
For the first time, Ashley had a diagnosis. “Even though the prognosis was difficult, it came with an overwhelming sense of relief. Before our genome results, we had no idea what the future would hold. Now we know. And that knowing has a lot of benefits for Ben: the psychological benefits from knowing why. The ability to identify the right meds to control his seizures. Knowing what to expect for the future. We can fight for more research and to find better treatments.”
Today, Ben is using a wheelchair, as his doctor predicted years ago. But Ashley and her family are thankful for the answers they now have. “We have a path forward, even if it’s a hard one.”
Recently, Ashley learned that some siblings of children with LCC also have the SNORD118 variant, even without having symptoms. “I tested my other three boys, and my oldest tested positive for Labrune, too.That was a crushing blow,” she says.
LCC is highly variable, with some children developing symptoms early in life, like Ben, and others remaining asymptomatic into their 40s and 50s. When they first got her oldest son’s results from GeneDx, Ashley was hoping he would remain symptom-free for decades to come. And while that’s been the case so far, a recent MRI showed a small calcification. “Thankfully, if he starts showing symptoms, now I know what to do. I know who to call.”
Unwilling to leave the future of her sons’ health in others’ hands, Ashley now spends much of her time advocating for people with LCC. She recently founded the LCC Foundation—a nonprofit that raises funds for research and future treatments, while also providing families with a community.
“Our mission is driven by our personal experiences and the unwavering love we have for our children,” she says. “It’s a place where people can come together, share their experiences, and support one another. Without a diagnosis, without talking to other parents, there’s so little sense of control. With a diagnosis and a community, everything’s different—and so much better.”
— Ben’s mother, Ashley
