Caitlin and Chad Calder long suspected that their daughter Della had autism. But they didn’t get an official diagnosis until they learned she had a change in the ASXL3 gene.
When Caitlin and Chad Calder’s daughter Della had to get a feeding tube in the summer of 2017, Caitlin was apprehensive. The person who put in the tube gave her a brief summary of how the device worked but little information on what to do if something went wrong. Fortunately, the Calders had a network of families to turn to who’d been through similar experiences.
That hadn’t always been the case. Della has Bainbridge-Ropers syndrome, a rare genetic condition caused by changes in a gene called ASXL3. It is linked to feeding difficulties, low muscle tone, intellectual disability and sometimes autism. When Della was first diagnosed in 2012, she was one of just four people known to have the condition. Doctors knew little about it. And the Carters had no other families to turn to for advice.
Determined to change that, Caitlin began to build a community of families with children with ASXL3 changes. She launched a Facebook page and other resources, creating a network of more than 200 families. Today, Caitlin estimates they hear from roughly two families per week with a new ASXL3 diagnosis. “Those are just the people who bother to contact us,” Chad says. “We have no idea how many there are.”
Caitlin says that having so many families to consult with has been comforting. “It’s a relief to talk to someone who knew exactly what I was going through,” she says. “I can text families and ask if this is normal, or vent about how much work it took. That’s the nice thing about community — they can help with things you didn’t even know you need help with. We lacked that for a long time.”
A NEW DIAGNOSIS
The Calders struggled for years before they figured out what was wrong with Della. At 8 months old, she couldn't sit up on her own and wouldn't bear weight on her feet. She was often sick with colds and ear infections. Concerned about possible neurological or metabolic issues, her physicians conducted a series of genetic tests. But nothing unusual stood out.
After several years of inconclusive testing, the Calders enrolled in a clinical trial at Texas Children's Hospital and the Baylor School of Medicine Genetics Clinic. The study used exome sequencing — decoding the portion of the genome that codes for genes — to try to uncover genetic changes in children with unknown diagnoses.
Geneticists discovered that Della had a genetic change in ASXL3. Geneticist Matthew Bainbridge and collaborators described Della’s case and three others in a paper published in 2013, outlining an entirely new condition. The other children in the study had issues similar to Della’s — developmental delay, serious feeding difficulties and neurological differences. At the time, doctors had little information to offer. “Dr. Bainbridge was very candid with us in terms of saying we don’t know what to expect, how long these children will live,” Chad says.
That uncertainty has begun to decrease in the last five years, as more and more children are diagnosed with changes in ASXL3. As of early 2018, researchers had described more than 50 cases of people with variations in the gene. They’ve developed a better description of the common symptoms — few children with ASXL3 changes talk, some walk, some have a feeding tube. Life span is still unclear.
Looking back, the Calders were struck by the similarities among ASXL3 children. “We never thought our daughter had physical manifestations,” Chad says. “But now as we get photos of kids with ASXL3, we can see it right away: That’s an ASXL3 kid.” Children with Bainbridge-Ropers syndrome often have distinctive facial features, such as a prominent forehead and arched eyebrows, as well as low muscle tone. Many also have a characteristic head shake, which Caitlin describes as resembling Stevie Wonder.
Despite their similarities, children with ASXL3 changes also differ, falling along a spectrum as in autism. “Some children don’t walk at all, some do. Some have limited vocabulary, some attend high school and are fairly streamlined,” Caitlin says. “Della is in the middle, and most kids are like her.” Bainbridge, one of the scientists who first described the syndrome, suspects this diversity is why the syndrome went unrecognized for so long. He says it’s very difficult to predict how severe an individual’s symptoms will be based on that person’s specific genetic change.
ASXL3 AND AUTISM
Della is among the roughly 50 percent of people with Bainbridge-Ropers syndrome who also have autism. From a young age, she engaged in repetitive behaviors, such as shaking her head, made poor eye contact, had difficulty with language and disliked changes to her routine.
Despite these symptoms, Della was officially diagnosed only last year. The autism assessment came thanks to a free program at the University of Houston, where Caitlin is studying to become a speech-language pathologist. “Her genetic diagnosis overshadowed everything else,” Chad says.
Having an autism diagnosis in addition to the genetic diagnosis helped the family get access to autism-specific services, such as applied behavioral therapy (ABA). “We just started ABA over the summer. That would have been really helpful a long time ago,” Caitlin says.
Today, Della, is a strong-willed 11-year-old who is adept with her iPad, often accessing a cartoon her parents don’t want her to watch. “She knows exactly how to find it, even when we delete the history,” Caitlin says. “She shows us the iPad history to show us she watched it.” Della doesn’t use a lot of words, but she’s very expressive in other ways. “You can read exactly what she is thinking on her face,” Caitlin says. “She surprises me; I always underestimate her.”
One of the most helpful aspects of the Facebook group is sharing strategies for dealing with difficult behavioral issues, such as fecal smearing, that can come up in children with ASXL3 changes. “Parents just getting into that stage don’t know what to do,” Caitlin says. “We have list of ideas we send to each other, like putting on leggings and a swimsuit.”
Della is now perched on the brink of puberty. That stage can be difficult for any family but is especially challenging for individuals with developmental delay. “No one tells you your child will have a period like other girls. Other parents are so helpful on what they did or options they had,” Caitlin says. “When Della starts her period, we have a plan in place.”
ASKING FOR HELP
Chad and Caitlin are very open about the effect that Della’s diagnosis has had on their relationship. “It’s something we are passionate about, how difficult it is on parents,” Caitlin says.
Early on, Caitlin took responsibility for most of Della’s day-to-day care and doctor’s appointments. Chad, meanwhile, worried about making enough money to cover Della’s medical costs. Both eventually reached a breaking point and realized the division of labor didn’t work. “It was isolating,” Chad says.
The couple sought therapy, which they found extremely helpful. “We always encourage parents to go, even by themselves,” Caitlin says. “Getting help is kind of embarrassing, but it can help solve problems. I would mortgage my house to pay for it.”
To repair their feelings of isolation, the couple merged roles. Caitlin went back to school to expand her professional opportunities. Inspired by her experience with Della, she is studying augmentative and alternative communication methods. Chad works from home so that he can help with childcare and medical appointments. “It wasn’t until we shared the jobs that we understood how important they were,” Caitlin says.
They hope that communicating the challenges they’ve faced will help other couples. “Someone recently said to us, your marriage is so great, you’re lucky to have each other,” Chad recalls. “I was quick to say, no, we almost got divorced. We made this.”
Scientific papers on ASXL3: