When a cerebral palsy diagnosis isn’t diagnosis enough: How one mom’s tenacity got her daughter exome testing—and answers

When Ashley was pregnant with her second child, Evelyn, it wasn’t as easy as it was with her first. This baby was smaller, so Ashley had weekly ultrasounds. Then at the time of delivery, she had a C-section. Right after her daughter was born, Ashley noticed that Evelyn’s head seemed small.  

“Then, when they came to do the newborn assessment at midnight, the nurse noticed Evelyn’s color was off,” Ashley explains. “She measured her oxygen, and it was down in the 70s, so they transferred her to the NICU. They ran all the tests, and after a few days, discharged her without giving us much information.”

At two months, Evelyn was missing milestones.

Two months later, Evelyn started missing milestones. She wasn’t rolling over. She was struggling to gain weight. Her arm was straight and stiff, and she was not able to hold a bottle. “I felt like she wasn’t on the right path. At that point, my husband Brad and I began digging for answers.” 

They got one from Evelyn’s physiatrist, a doctor trained in physical medicine and rehabilitation, who was helping her with mobility issues. She told them that Evelyn had cerebral palsy. When Ashley asked her neurologist about it, he said it could be cerebral palsy, but it usually isn’t diagnosed at such a young age.   

Like any mom, Ashley wanted a definite answer. “So when I told the physiatrist I was going to see if Evelyn could get a genetic test, I was surprised to hear her say, ‘No, Evelyn has CP and that’s all she has. You’re wasting your time and wasting your money on genetic testing. She is 100% textbook CP, and I am sure of it.’”   

Only Ashley disagreed.

A year’s wait to see a geneticist—or a four-hour drive?

The family lives in Knoxville, Tennessee, and there is only one geneticist nearby. The wait to see him was a year, so they opted to drive four hours each way to get a test sooner. First, they did a gene panel test, which came back negative.  

“Evelyn was a little over a year old when we finally got in to see the geneticist who ordered a GeneDx exome test. He said it was very unlikely that it would come back with anything, but we’d do it.”   

The exome test did come back positive: Evelyn had a change in the CTNNB1 gene. 

It’s worth noting that not all genetic tests are the same. For example, panel tests look at a limited number of genes. As a result, they typically don’t catch as many genetic diagnoses as a test like exome sequencing. An exome test can look for changes in approximately 20,000 genes at once; this includes all the genes currently known to cause cerebral palsy today.  

Getting a diagnosis and a glimpse of the future.

Ashley describes the moment the geneticist called her with the test result: “I just remember her saying something about the CTNNB1 parent Facebook group. Before I even hung up, I went to the website and looked at what an older version of Evelyn might be. I learned that for her condition it’s a spectrum: some of the kids are running around, some of the kids are in wheelchairs, some of the kids are talking. It’s a wide range.” 

At that time, she was told only 200 children had been diagnosed with CTNNB1 worldwide. Now the number is thought to be as high as 500 people—and likely many cases have not been diagnosed yet. From the Facebook group and another CTNNB1 support group that Ashley found, she first heard about two serious potential complications: tethered spinal cord and retinal detachment that can potentially cause blindness. 

When a condition is this rare, the parents become experts.

Because CTNNB1 is so rare, there’s no scientific literature or medical guidelines about the condition. Since so many other kids in the Facebook group had a tethered spinal cord, Ashley asked her doctors to do an MRI of the spine just in case. Sure enough, it showed a tethered spinal cord. Evelyn needed surgery.  

“It was clear as day. Before the surgery, every time I picked her up, she would cry. Her body was so stiff. We thought that was because she had all these tone issues. Now, I think that was her spine pulling the fat sack on the back, and I just didn’t know that because she is nonverbal,” she says.  

“For us, to get that surgery, and for her not be in chronic pain, and to help her not have that permanent nerve damage—that was really important. And that was all possible because we had a diagnosis and the Facebook group.”

But it didn’t end there. Other parents also recommended checking Evelyn’s eyes. 

“All the parents in the Facebook group were talking about FEVR, a condition where your retina is detached and you can go blind. So I asked my ophthalmologist about it. She told me there is no literature associating CTNNB1 with retinal detachment,” Ashley says. “I insisted—and so she gave me a referral anyway. We don’t have a retinal specialist in our area, so this time, we drove three hours to see a specialist.”  

Fortunately, the specialist had already treated another patient with CTNNB1 for FEVR and thoroughly understood Evelyn’s condition. Now Evelyn is tested regularly for retinal detachment. “It’s just another example of the power of a genetic diagnosis and how that changes care. I cannot imagine Evelyn not having that diagnosis and losing her eyesight. If your child is non-verbal and then can’t see, that would make this hard so much harder. The diagnosis enables us to advocate to get her the best quality of life.”

For children like Evelyn, getting an exome test can make all the difference. That’s because:  

• Cerebral palsy is one of the most commonly diagnosed motor disabilities in children. Yet for most of the 10,000 children diagnosed with cerebral palsy each year, the cause is unknown.   

• An exome test is recommended as a first-line test for many conditions that often co-occur with cerebral palsy, including epilepsy, developmental delay, intellectual disability, and congenital anomalies.  

• For up to one third of patients with cerebral palsy, the underlying cause is a genetic condition that can be identified through exome.