Discover SPARK

First a Cleft Lip, then Autism

Emily Singer

Date Published: July 2, 2020

More than three years after a genetic diagnosis, Brody Eidam has surpassed doctor’s expectations. But he and his family still face lots of challenges.

Brody Eidam was 18 months old when he learned to walk. It was an especially joyous moment for his mother Sara Heller. About five months into her pregnancy with Brody, a doctor told Heller that Brody was unlikely to ever walk on his own.

Brody, now 3, loves nothing more than to run around the backyard. “It’s everyone’s favorite thing about Brody,” Heller says. “He wasn’t supposed to walk, now he’s running.”

The doctor’s grim prediction was sparked by an ultrasound at 24 weeks showing that Brody had a cleft lip and palate. Genetic testing revealed that Brody was missing a piece of one of his chromosomes, structures in our cells that house our genes. This type of genetic change is called a deletion.

Brody’s missing piece, on chromosome number 9, was extremely rare. At the time, fewer than 10 other people who have similar changes on chromosome 9 had been described in the medical literature. And none of them shared the exact same chromosome change as Brody.

Based on those few cases, doctors tried to give the family a sense of what they might expect. Most people missing that part of chromosome 9 had some combination of autism, epilepsy, low muscle tone, developmental disability, behavior issues, and speech and language challenges.

“We knew all of those things could be a possibility, but we didn’t want to focus on the ‘maybes’ as much as the ‘certains’,” Heller says. “The biggest thing we took from that meeting was that these are similar cases but not exactly what Brody would have.”

They knew, for example, that Brody would have a cleft lip and palate, so they first focused on that. In his first year, Brody went through numerous procedures for his cleft lip and palate. He started early intervention therapy when he was just a few weeks old, in part to help him learn to move his mouth to eat. By 6 months old, he was doing physical, occupational, speech, and behavioral therapy.

An Evolving Picture

As Brody’s cleft lip and palate improved, other challenges became more pressing. Heller says that Brody first started showing signs of autism around 1 year old. He loved to spin things, which can be a common behavior in autistic children. He was slow to communicate both verbally and non-verbally, and his fine and gross motor skills were delayed.

A year after symptoms first started, Brody received an official diagnosis of autism.

The family joined SPARK soon after, on the recommendation of the psychologist who diagnosed him. They wanted to help other families and to help scientists better understand autism. “What we’re doing with Brody is giving doctors and researchers so much more information,” Heller says. “Hopefully it will help many more kids in the future.”

Heller knows of no one else with the exact same change in chromosome 9. That’s not surprising, says Heather Mefford who has studied this part of the genome. Mefford is a geneticist at the University of Washington, in Seattle, and a member of SPARK’s scientific advisory board and medical genetics committee. Some parts of the genome tend to break in predictable spots. But in other regions, like this part of chromosome 9, breaks seem to happen randomly.

Deletions like Brody’s often include several genes. Studying people who have different deletions covering different genes can be helpful for understanding the role each gene plays. By comparing each person’s genes and symptoms, scientists can figure out if specific symptoms are tied to specific genes. “As we collect patients with overlapping deletions, it helps us understand which genes might be related to which parts of the syndrome,” Mefford says.

For example, people who have small changes in a part of chromosome 9 that includes a gene called RORB often have epilepsy and developmental disorders. Even people who have very small changes within the RORB gene can have epilepsy. People who are missing larger segments of DNA might have other issues.

Some families find it helpful to connect with others who share the same or similar genetic changes. But Heller says she hasn’t sought out others. “I want to let Brody tell me what it’s going to be like,” she says. “I don’t want to hear from another mom how he’s going to develop.”

When other parents — most with children who have smaller deletions — reach out to her, she gives them the same advice a geneticist gave her when Brody was given his prenatal diagnosis. “Love and nurture your baby until you know more… but do early intervention.”

Coping During the Pandemic

Like many other families, Brody and his family have struggled with the halt in therapies and services that was triggered by the COVID-19 pandemic. Brody couldn’t pay attention long enough to benefit from telehealth services, and both his behavior and development have regressed. They also miss their normal activities. “Closed parks have been a nightmare,” Heller says.

In late May, some outpatient therapy re-opened in their state. But the family learned that Brody couldn’t participate until he could tolerate wearing a mask. “COVID is just like Brody’s behavior or development,” Heller says. “We think we are moving forward and then get stalled.”

To cope with this and other challenges, the family focuses on celebrating Brody’s small victories, like walking. “It’s so much harder for him to learn those things,” Heller says. “When he does, it’s so much sweeter than it would be if he didn’t have autism or cleft lip.”

Heller hopes to soon get back to Brody’s favorite therapy — riding horses. Brody doesn’t talk yet, so he uses a Dynavox device to communicate with the horses, telling them to stop or go.

“We would have never been here, seeing this smile, without autism,” Heller says. “We met so many people and so many great providers.”