Every parent loves to watch their child fly like a butterfly and discover the world. Although five-year-old Ollie’s variation of CACNA1C means he is developmentally one year old, he plays independently, attends half-days at school, and loves books, especially ones that contain faces.
“Ollie loves people, he loves faces,” says Erica, his mother.
This is Ollie’s story summarized, because otherwise it would indeed be a book, one filled with the rainbow of friendly faces who’ve helped him and his parents on this rare disease journey.
When You Can’t Just Take a Look Online for Symptoms
Ollie’s developmental milestones were on track for his first few months, but then he began slipping. For example, he would gag on his food, and he reverted from pronouncing consonants to babbling. The family’s first pediatrician, however, said everything was fine.
Because she was also struggling with postpartum depression and anxiety, Erica was questioning herself, despite ample other resources, such as books and family members, telling her that she and her husband, Brian, were right.
Attending a class on weaning a baby confirmed their suspicions.
“I sat in this class for an hour trying really hard not to cry because my son was almost 11 months old and doing none of the things they said a baby should be doing when it’s time to wean at about five or six months,” Erica says. “I went home and just, like, fell apart on my husband said, ‘Well, I think we have to acknowledge that something is wrong and we have to stop.’”
Erica and Brian learned about early intervention services through another parent. These are publicly funded programs offered in the United States for babies and young children with developmental delays and disabilities. They booked Ollie’s evaluation for a few days after his first birthday.
On Ollie’s birthday, he experienced his first seizure, adding another piece to the puzzle of his condition and its cause. The therapist at the early intervention assessment, whom the family is still friends with today, validated Erica and Brian’s concerns.
“We’d been losing our minds for a year, thinking something was wrong with us,” Erica says. “The therapist who did the evaluation, she’s sitting on the floor with me in the living room, and she starts crying with me. She says, ‘So, the good news is that you’re going to get the help you need because the bad news is, developmentally, he is at 35% of where he should be.’”
No Longer Just Going Anywhere: Genetic Testing Points to CACNA1C
Their concerns finally acknowledged, Erica and Brian could begin the diagnostic journey.
They opted for the first level of genetic screening, which is the most thorough, though the most expensive in the US. However, it would cover every possibility and therefore hopefully help Erica and her family find an answer sooner. Because CACNA1C variations are not a common childhood condition, Ollie’s diagnostic journey could take a very long time: all other tests related to his unknown condition had returned normal thus far.
Choosing the first-level test had proved to be a good decision. It showed the CACNA1C variation. The only problem: No one on record had the same variation, which meant the geneticist had to say that, scientifically, she couldn’t confirm that the CACNA1C variation caused Ollie’s problems.
“But our neurologist said, ‘Based on other CACNA1C kids that I see,’” Erica says, “‘you should feel free to stop this diagnostic journey and feel like you’ve found what’s causing the issue. You should feel free to now start addressing the symptoms.’”
Erica has one critical piece of advice for special needs parents in the US: Anytime you ask your insurance company if something will be paid in full, get a paid-in-full statement. Her insurance company had said they would cover the cost but had not issued the commitment in writing. Eleven months after the genetic test, Erica and her husband were saddled with a $27,000 bill.
Reading About Seizures: What Can the Moro Reflex Look Like?
The Moro reflex for most parents is that cute startle reflex babies have when a loud noise or other sudden stimulus causes them to splay their hands and feet out quickly. In healthy children, it usually disappears by two months of age.
“Ollie still had it at 18 months,” says Erica.
Erica began what she calls “investa-Googling.”
“Let’s be clear,” she says. “It’s not research. I’m a layman. But I just needed the right term to go down the next rabbit hole.”
By searching for what a Moro reflex can look like, she discovered that Ollie could be experiencing seizures. More talks with specialists, followed by tests, and she learned she was right.
It took some time, but Ollie was diagnosed with Lennox-Gastaut syndrome (LGS). It is a rare disease and rare form of epilepsy that usually includes several types of epileptic seizures.
“Lennox-Gastaut is a genetically diverse syndrome. It basically means you have these sets of seizures. Ollie has five different types of seizures,” Erica says. After more online searching and discussions with specialists, they found dietary guidelines that, when combined with medications specific to Ollie, help control many of his seizures.
You can learn more about LGS by listening to our podcast with Dr. Tracy Dixon-Salazar, the executive director of the LGS Foundation. You’ll find that episode of Real Talk, Real-World Data here.
Getting to Know New Friends
Throughout their journey, Ollie, Erica, and Brian have made new friendships through their new healthcare teams. They also moved to a new state to find a school system that supported Ollie’s needs, and he now attends school half-days. For any healthcare needs, though, they still travel back to their home state, because the team there is so exceptional.
But the family has also found more friends thanks to the Timothy Syndrome Alliance (TSA), a charity dedicated to families living with a CACNA1C genetic variant. It also runs a patient registry.
Sophie Muir, the chair of the TSA, invited Erica to join. Erica eventually registered Ollie with the CACNA1C patient registry, and they soon discovered that another family with Ollie’s exact variation had just registered.
They had found what’s called Ollie’s variant twin, which has huge benefits for both families, because now they can share information with each other, if both families consent.
“That’s why we are so, so interested in being a part of the CACNA1C community and interested in finding his variant twin,” says Erica. “It’s impossible to know the full scope of what’s going on until you know what’s connected to the gene and you know how to treat the condition that resulted from that variation. And the only way to do that is to be involved in this very, very tiny community.”
How to Grow from Here
A patient registry becomes more successful as it grows.
“The more we can get people registered, and the more that people are doing whole exome or genome screenings, the more we’re able to get a bigger picture and truly understand what’s going on with these kids,” says Erica. “Because when our variation came back, it didn’t mean anything because nobody else had it.”
A patient registry is perhaps like a book filled with faces, showing the rainbow of people out there. This is especially important with a rare disease, when the community doesn’t have millions of people with the condition to potentially draw from for research.
Erica and Brian believed they were alone because they had no way of finding anyone else with Ollie’s variant on this planet of 8 billion people. But once Ollie and his variant twin registered, it felt like anything was possible.
How to Join the CACNA1C Patient Registry
Called the CACNA1C Community Registry, it’s available to patients from around the world with access to the Internet and a web browser. No special technology is otherwise required. It’s free and voluntary for anyone with a documented variation in the CACNA1C gene. It also follows extremely stringent data security and privacy regulations, and participants own and are in control of their data at all times.