Rare Disease | Genetic Testing
Rowan’s story: How genetic testing for a rare condition brought answers and community
Baby Rowan’s seizures mystified his doctors until genetic testing revealed their source and led his family to a life-changing community
The first 18 hours of Rowan’s life were uncomplicated. His parents, Michael and Amber, held him, nursed him, and marveled at the new life they’d welcomed into the world. Rowan’s doctors wanted to keep an eye on a couple of things, nothing too concerning, so they asked the family to stay another day in the hospital. His blood sugar was low, his head was a little puffy, and his arms periodically shook.
During that first day, Rowan’s doctors stabilized his blood sugar, and the swelling in his head went down. He ate and burped like a healthy baby. Everyone got a little sleep.
Then things got complicated.
Rowan’s health mystery begins
Once doctors figured out that Rowan’s arms weren’t shaking because of low blood sugar, they realized that some of what they’d observed were symptoms of seizures. Worse, Rowan was now seizing nonstop. They sent him in an ambulance to the children’s hospital about 40 minutes away. Michael and Amber followed in their car, not knowing they’d spend most of the next month in the hospital.
In the NICU, Rowan struggled. He had trouble breathing, and his seizures would not stop. Doctors couldn’t figure out why. To protect Rowan’s brain, they heavily sedated him, inserted a tube to help him breathe, and tried to control the seizures with medication. “It was a very scary and stressful time,” Michael says. “You do a lot of self-examination.”
Rowan’s doctors performed a battery of tests, but nothing fit. He didn’t have a viral or bacterial infection. It wasn’t a vitamin deficiency. He hadn’t suffered an injury during birth that could explain the seizures. The problem wasn’t metabolic.
As days passed and doctors stabilized Rowan with a combination of anti-seizure medications, Amber and Michael continued to hope that one of the tests would reveal the information they needed to make the right decisions for their baby.
“It was a very scary and stressful time,” Michael says. “You do a lot of self-examination.”
Early on, doctors ordered a comprehensive epilepsy gene panel from Invitae. The test returned 2 weeks later with a possible answer: Rowan had a variant on both of his SLC13A5 genes associated with a rare seizure disorder in infants. From there, doctors were able to diagnose Rowan. He had SLC13A5 epilepsy.
Michael and Amber underwent genetic tests, too. The results showed that each parent had one SLC13A5 gene with a variant, indicating that both were carriers of Rowan’s condition.
Learning about rare epilepsy conditions
Also known as SLC13A5 citrate transporter disorder, this genetic condition interferes with how the body transports citrate. This small molecule helps cells make energy and is highly present in our organs, bones, and teeth.¹
Children with SLC13A5 epilepsy experience multiple types of seizures that begin, like Rowan’s, shortly after birth. As they grow, their motor, coordination, and communication skills develop later than their peers, if at all. They also tend to have underdeveloped teeth.¹ ² Some never reach milestones, and most SLC13A5 kids require 24/7 care for their entire life.
Because of the rarity of this condition, very few studies exist. For example, the first natural history study of SLC13A5 began in 2021, when Rowan was born, and the research is still in motion.³ “Rowan’s doctors weren’t experts on his condition and couldn’t be,” Michael adds.
Genetic testing enables research
Not much changed in the first weeks after Rowan’s diagnosis. The good news was that doctors could stop recommending tests that Rowan didn’t need and focus on stabilizing his seizures. The bad news was that even though they now had a name for the underlying condition, they didn’t know how to treat it.
Michael and Amber began doing their own research using information they gleaned from their genetic test reports. They didn’t have the expertise to read the research, but they could bring it to Rowan’s doctors. “The genetic diagnosis gave us the inside track,” says Michael. “Rowan’s doctors were incredibly open and humble about it.”
Their search for clues also led them to the TESS Research Foundation, a research, support, and advocacy group for people affected by SLC13A5 epilepsy. Michael and Amber reached out — an act that would soon transform their lives.
Finding support in the rare genetic disease community
Plugging into the resources and support of the TESS Foundation “completely changed the game in terms of Rowan’s treatment,” says Michael.
TESS Research Foundation’s founders, Kim and Zach Nye, are the parents of two children with SLC13A5 epilepsy. Their efforts to find a diagnosis for their children led to the discovery of SLC13A5 as a cause of epilepsy in 2014. In 2015, they founded TESS to support and speed the development of treatments and cures by funding research and creating a network of patients and families affected by the condition.⁴ ⁵
The rarity of SLC13A5 epilepsy means that patients and families tend to be far-flung and isolated, a feature of many rare genetic diseases that can make studying them difficult. While a rare genetic disease is rare on its own, 300 million people across the globe have a rare genetic condition of some kind. That’s because up to 10,000 different rare genetic diseases exist, making them a major health concern.¹
Thanks to TESS, people worldwide could connect for the first time to share experiences and contribute to a growing body of knowledge about the condition — people like Rowan, Michael and Amber.
The TESS Foundation community helped Michael and Amber understand the science behind Rowan’s condition. The foundation also suggested treatments and therapies that worked for other children. A tip from TESS led Rowan’s medical team to prescribe valproic acid, which proved to be very effective at reducing his seizures.
In the days after Rowan’s birth and diagnosis, Michael and Amber felt like shipwreck survivors stranded in the middle of uncharted water, unable to find land. Thanks to genetic testing and the support of TESS following Rowan’s results, they were able to find what they needed to make their way back.
“TESS was like a lifeboat that came along and pulled us up,” Michael says. “Not only did they introduce us to people who shared our experiences, but they also know where they are going.”
Genetic testing helps make diagnosing a rare condition like SLC13A5 epilepsy possible in the first place. It also makes communities like the TESS Foundation possible. Instead of struggling alone, families with a genetic diagnosis can work together to find treatments and, maybe one day, a cure.
A happy, healthier child
Finding the right combination of medications is a challenge for any epilepsy condition, and Rowan’s was no different.
After carefully trying six medications, Rowan is now stable. He has already weaned off one medication and will soon wean off another. He still has breakthrough seizures, but for the most part, Michael says, “We have a lid on them.”
Today, Rowan is a cheerful and resourceful 2 ½-year-old. “He figures out what he can do with his limited tools and accomplishes what he wants to,” says Michael with pride. He’s a big fan of Ms. Rachel (a YouTuber who creates educational videos for toddlers), and all kinds of music make his face light up.
“Even after being poked a million times in the hospital, he’ll turn on a smile and be happy to see whatever doctor or nurse comes in,” says Michael. “He’s an extremely happy kid.”
Since first reaching out to TESS, Michael and Amber have become deeply involved with the foundation. Amber is their operations manager, and Michael serves as vice chair of the board, helping with good governance and developing communication strategies for making the science behind SLC13A5 epilepsy accessible.
“Even after being poked a million times in the hospital, he’ll turn on a smile and be happy to see whatever doctor or nurse comes in,” says Michael. “He’s an extremely happy kid.”
“Genetic testing brought us from a wasteland of knowledge into so many more resources,” he says. “Getting it was a no-brainer.”
Invitae offers genetic testing for all stages of life. To explore genetic testing options that are right for you, visit us online.
To find more patient stories from people like Rowan, visit us here.
References
- Spelbrink EM, et al. Frontiers in Genetics. 2023;14:1109547.
- SLC13A5 Citrate Transporter Disorder. National Organization for Rare Disorders. December 21, 2023. Accessed February 7, 2024. https://rarediseases.org/rare-diseases/slc13a5-epileptic-encephalopathy
- SLC13A5 Deficiency Natural History Study — Remote Only. National Library of Medicine. November 22, 2023. Accessed February 7, 2024. https://clinicaltrials.gov/study/NCT04681781
- Digitale E. Breaking the code. Stanford Medicine Magazine. November 22, 2016. Accessed February 7, 2024. https://stanmed.stanford.edu/how-scientists-diagnose-rare-diseases-including-a-citrate-transporter-disorder
- About. TESS Research Foundation. Accessed February 7, 2024. https://www.tessresearch.org/about/
