Her advice to other CP parents: ask for an exome test upfront and always trust your mom gut.
March 7, 2025 • 8 min read
Emily and her husband, Cody, had been trying for over a year to have a child when Emily finally got pregnant with Savannah. Emily describes her pregnancy and birth as completely normal. As first-time parents, everything was new. So they were surprised when just four months after Savannah was born, the pediatrician flagged that she was not on the trajectory to meet developmental milestones.
“We weren’t too concerned, because we were also being told it was fine. Every child is on their own timeline. And she’d catch up, Emily says. “So I will never forget the six-month appointment with our pediatrician, when she said something was definitely wrong, and that she was going to help us figure out what it is.”
At the time, Savannah’s eyes were crossed. While she could roll over, she wasn’t trying to sit up. She also had low muscle tone and was floppy. “The pediatrician referred us to ophthalmology, neurology, and genetics—and told us there was chance that it was nothing. Since referrals sometimes take a while to get on the books, she wanted us to get on the waitlist right away. We were fortunate that she referred us to a geneticist early on.”
The wait was actually better than expected: within two weeks, the family met all the specialists. The neurologist told them he “saw” something but wanted to wait for test results. The ophthalmologist said Savannah needed glasses and maybe surgery. The geneticist ordered a genetic test called a microarray, and Savannah started physical and occupational therapy.
In between all those appointments, Savannah started having seizures. “I noticed Savannah’s head was making these very subtle head drops—only other people weren’t seeing it, so I felt like a crazy person. My mom gut said there was something not right with these movements, and I should go to the E.R. We were in the midst of moving, and it was the day before we were supposed to close on the house. I told my husband, ‘The person who is buying our house has to wait. I am taking Savannah to the emergency room. We will not be out of this house on time.’”
At the hospital, the EEG confirmed the seizures and Savanna got anti-seizure medication. The family moved, and right after that, the microarray test came back: normal.
“I remember being confused and thinking oh, so this means nothing is wrong? And they said no it doesn’t mean nothing’s wrong. We need to do another genetic test, an exome test,” says Emily. “I was frustrated and wondering why we just didn’t do this test in the first place?”
A microarray test doesn’t catch nearly as many genetic diagnoses as exome sequencing. For example, microarray does not look specifically at individual genes but examines only extra or missing pieces of DNA. An exome test can look for that and also looks for changes in approximately 20,000 genes; this includes the genes currently known to cause disease today.
For children like Savannah, 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 sequencing.
After the geneticist ordered the second test—a GeneDx exome test—Emily was sent a GeneDx sample collection kit for Savannah, Cody and herself. They each swabbed the inside of their cheeks and sent the samples to GeneDx’s lab in Maryland. This type of “trio” testing is more likely to find a genetic diagnosis for the patient compared to testing the patient’s sample alone.
Savannah was ten months old when they got the results back. Emily recalls, “I don’t cry any more when I talk about it, but it was the most life-changing second of my life. I was home alone with Savannah, and I got an alert on my phone telling me that I had a new test result on MyChart. In hindsight, I probably should have waited to open it until I was around other people. I was in my kitchen, and when I saw positive, I just fell onto my countertop holding my cell phone. I couldn’t even stand up. I called my husband immediately and said, ‘the results are in. I need you to come home right now; I have no idea what CTNNB1 syndrome is.’ I started frantically googling, called my best friend, and cried on the phone with her until my husband got home.”
Emily continues, “There was an ounce of relief in that moment, because we had been waiting for answers and now we had them. We now had some sort of direction, too.”
Fast forward to a month later, when Emily found the CTNNB1 Facebook group. “I realized we are not in this alone. There is this community of people going through the same exact thing we did. They had their diagnosis day. They read the results just like I did, and then maybe fell on their counter, too.”
The diagnosis explained the genetic cause for Savannah’s cerebral palsy. Yet, because CTNNB1 syndrome is a rare disease, doctors are still learning the best treatments.
Through the Facebook group, Emily learned there were some treatments in the pipeline. “That’s when the hope really started shining in. I got involved with the group. And was like let’s make this hopeful stuff happen, let’s go!” Like so many mothers with children who have a rare disease, Emily soon became one of the leading experts on it.
Emily warns, “We learned that there are symptoms associated with a genetic diagnosis that, if not caught early enough, are very detrimental. For example, there are two serious conditions that we would have never known about without a genetic diagnosis. One of those is a retinal disease that can cause retinal detachment and lead to blindness; you would not routinely screen a CP patient for that. The other is tethered spinal cord. More and more patients are getting MRIs to check for that.” After the genetic diagnosis, Savannah had surgery to detether her spinal cord, preventing permanent nerve damage.
Today, Savannah is three years old and her younger sister Nora’s favorite sidekick. She just started a special pre-K program and is learning how to use an AAC device.
“That has been a big burst of hope for the family. It just blows my mind how much is in her mind that is not coming out verbally. It’s really been amazing to see that as an outlet for her to learn how to communicate and express her needs.”
Emily is now president of the CTNNB1 Connect and Cure organization. She notes that the CTNNB1 gene is one of the most common gene variants that shows up in cerebral palsy. There are about 450 patients around the world with CTNNB1 syndrome; 250 are located in the US. The organization raises awareness, provides education, and supports individuals with CTNNB1 syndrome. Learn more about the organization.
Savannah’s symptoms included missing milestones:
An exome test is recommended as a first-line test for many conditions that co-occur with cerebral palsy. The first step to getting a comprehensive genetic test like exome is to talk with your child’s doctors. For families that have trouble accessing testing, GeneDx offers a telehealth pathway that connects parents directly with genetic experts who can discuss your child’s symptoms via a telehealth appointment and, if appropriate, order exome testing. Learn more.
