Key Takeaways
- Developmental delays can sometimes be caused by rare genetic conditions.
- When initial genetic tests fail to identify the cause, exome sequencing may help uncover answers.
- A genetic diagnosis can help families access medical support, educational resources, and community connections.
- For Bodhi’s family, persistence—and exome testing—finally led to a diagnosis after years of uncertainty.
When Developmental Delays First Appear
When he was a baby, Bodhi loved to cuddle.
Yet he didn’t progress through developmental milestones as quickly as most babies. Before he was a year old, he began showing signs of developmental delays.
His mother, May, recognized them immediately.
“He wasn’t sitting up, rolling over, or doing much babbling,” she says.
Bodhi also experienced regular sensory meltdowns and was especially sensitive to light, sounds, and smell.
May and her husband Gene began searching for ways to support him.
They found a pediatrician willing to work with them and enrolled Bodhi in a developmental preschool program that included physical therapy, occupational therapy, and speech therapy.
While those services helped Bodhi, his parents still had an important question:
What was causing his symptoms?
Searching for Answers Through Genetic Testing
May and Gene connected with a pediatric neurologist who first ordered testing for fragile X syndrome.
Fragile X testing looks for changes in a single gene.
When the test came back negative, Bodhi’s neurologist recommended a slightly more comprehensive genetic test.
Although that test detected some genetic changes, the results still did not explain Bodhi’s symptoms.
“It was suggested that we stop there,” May recalls. “But we wanted answers—and I’m so glad we didn’t listen to that advice.”
When Exome Testing Becomes the Next Step
Deep down, May felt certain Bodhi’s symptoms had a genetic cause.
She and Gene sought out a geneticist, who recommended exome trio testing—a test that analyzes the DNA of the child and both parents to better understand which genetic variants may be responsible for symptoms.
Yet getting the test approved was not easy.
Their insurance company required the referral to be faxed in.
The family sent it multiple times, but the insurer repeatedly claimed they had never received it.
“It was bewildering,” May says. “It had already taken so long to get to this point, and now it felt like we hit a wall.”
Going Full “Mama Bear” to Get Answers
Determined to move forward, May tried a different strategy.
She faxed the referral again, shipped a physical copy using signature confirmation, and even asked her mother-in-law to personally deliver a hard copy of the referral to the insurance company’s headquarters.
That persistence finally worked.
Bodhi’s exome test was approved.
A Diagnosis After Two Years of Searching
After two years of searching, Bodhi’s exome test finally revealed the answer.
He had X-linked intellectual disability, Cabezas type, an ultra-rare condition caused by changes in the CUL4B gene.
“It felt validating,” May says.
“Although we understood there was an uncharted road ahead, we finally had a name—a diagnosis—and a way to understand our experience with our son.”
“Getting a diagnosis was like having a direct prayer answered.”
The diagnosis also brought a huge sense of relief.
Doctors confirmed that Bodhi’s condition was not degenerative, easing fears that his symptoms would worsen over time.
How a Diagnosis Changed Bodhi’s Care
Having a confirmed genetic diagnosis transformed how doctors and educators supported Bodhi.
His diagnosis helped:
- Validate his symptoms with clinicians
- Secure an Individualized Education Program (IEP) at school
- Provide access to additional educational resources
- Enable the family to receive disability support services
The family also gained access to respite care and an augmentative and alternative communication device for Bodhi.
Connecting With a Rare Disease Community
At the time of Bodhi’s diagnosis, only 126 children worldwide had been diagnosed with X-linked intellectual disability, Cabezas type.
Through online communities, May was able to connect with other families facing the same condition.
As exome testing becomes more widely available, additional children are being diagnosed and families are finding each other.
In the past two years alone, 15 more children have been diagnosed.
Life Today
Today, Bodhi is thriving.
“He’s just his own little guy,” May says. “Super sweet, funny, and full of energy.”
He’s especially obsessed with Monster Jam.
“Both Bodhi and his dad have these really big laughs and a great sense of humor.”
Advice for Parents Searching for Answers
May encourages other parents to trust their instincts.
“Trust yourself,” she says.
“All the hoops you have to jump through are incredibly time-consuming. But exome testing can make all the difference—and you shouldn’t have to wait years for it.”
Wondering if Exome Testing Is Right for Your Child?
The first step toward comprehensive genetic testing is talking with your child’s doctor.
For families who have difficulty accessing testing, GeneDx also offers a telehealth pathway that connects parents with genetic experts who can discuss symptoms and, when appropriate, order exome testing.
Medical guidelines recommend considering exome testing for children with:
- developmental delays in milestones such as rolling over, walking, or speaking
- intellectual disability
- unexplained epilepsy or seizures
- congenital anomalies or birth defects
Inspired to Share Your Story?
Patient stories can help other families recognize the signs of rare disease and seek answers sooner.
Note: Names in this story have been changed to protect patient privacy.
