Amber Black’s pregnancy and delivery were unremarkable, and her doctors did not foresee anything out of the ordinary. For a few hours after their son Rowan’s birth in June 2021, Amber and her husband, Michael, relaxed in a “happy glow.” That changed when Rowan started grunting and shaking his arms. He was brought to the neonatal intensive care unit (ICU), where he was heavily sedated while doctors tried to control his seizure.
Rowan was able to go home after a few weeks but ended up back in the hospital, this time in the pediatric ICU, when he began having trouble breathing. Rowan underwent genetic testing and was diagnosed with SLC13A5 citrate transporter deficiency, a rare disorder caused by changes in the SLC13A5 gene that results in seizures within the first months of life. Amber and Michael also underwent genetic testing and learned that they both carry the abnormal SLC13A5 gene. That means that any children they had in the future would have a 1 in 4 chance of developing the condition, according to the TESS Research Foundation, a nonprofit group in Menlo Park, CA, that raises awareness and funds for research and provides support to people affected by the disorder.
People with the disease can have hundreds of seizures each day, some lasting several minutes or even hours, as well as behavioral and developmental delays and problems with speech, movement, balance, sleeping, and eating, according to the National Organization of Rare Disorders.
Michael and Amber, who live in Ontario, Canada, are sharing their story to raise awareness of epilepsy on Purple Day, a worldwide observance of the condition that occurs annually on March 26. People are encouraged to wear purple and hold special events, such as fundraising walks, concerts, or public talks, to support those with epilepsy. The Black family is wearing purple, sharing information about their son’s condition on social media, and encouraging friends and family to educate others about epilepsy. “It’s good for people to have a better sense of what it’s like for families affected by this disorder and disorders in general,” says Michael, a digital technology professional.
Now 2, Rowan has tried various medications since his diagnosis, changing them as recently as this month, as his doctors look for the right combination. He currently takes valproic acid (Depakote), clobazam (Sympazan), lacosamide (Vimpat), and levetiracetam (Keppra). The toddler still has breakthrough seizures, but his parents can control them with rescue medication—and they keep an oxygen monitor and secondary breathing camera on Rowan while he sleeps.
Like most children with the disorder, Rowan is non-verbal and uses a gastrostomy tube—which delivers food directly into his stomach—and he is still trying to reach childhood milestones like sitting up. He receives occupational and speech therapies as well as myofunctional training, which works to strengthen muscles around the face, mouth, and tongue to help with talking, eating, or breathing.
In addition, a special kind of physical therapy designed for children with developmental motor delays affected by the central nervous system has made Rowan stronger and improved his ability to move. The 2-year-old is a typical active boy who enjoys playing with his cousins and swimming and is “very aware of what’s going on around him,” his father says.
Michael and Amber have advocated for Rowan and children like him since Rowan’s diagnosis. Amber is the operations manager and Michael is the vice chair and webmaster for the TESS Research Foundation. Getting involved with the foundation has been “a good way to channel our energy into something bigger than our family,” says Michael.
