Danny, Titus, Bekah and Ely Bowman are pictured in September 2016. (Team 4 Titus & Ely)
When doctors told Bekah and Danny Bowman that a neurodegenerative disease was robbing them of their then 5-year-old son Titus, they never imagined it would strike his little brother, 3-year-old Ely, too. But on June 26, 2015, just two months after Titus was diagnosed with Batten disease, the Bowmans were devastated all over again.
"We experienced all of that extreme regression and loss and grieving over that, and then we got the diagnosis for Ely at the end of June,” Bekah, 33, told Fox News. “I was at my in-laws in Idaho, I got a phone call and stepped outside, and collapsed on the sidewalk. I had never been that emotionally broken before."
There are 14 different forms of Batten disease that resemble other progressive neurodegenerative diseases, such as Parkinson’s, Alzheimer’s and Huntington’s, Dr. Raymond Wang, a metabolic geneticist who has been working with the Bowmans at Children’s Hospital of Orange County (CHOC) in Orange, California, told Fox News. Titus and Ely have what scientists call late infantile Batten disease, also known as CLN2.
CLN2 is an inherited genetic disorder in which the brain cells are missing an enzyme called tripeptidyl peptidase 1 (TPP1), which causes waste buildup in the cells’ neurons. As a result, the cells gradually lose their function and die. Patients begin exhibiting symptoms with developmental delays in speech, and then progress to loss of motor skills, unsteady gait, visual impairment, seizures and eventual death. There are no curative treatments approved by the Food and Drug Administration (FDA), and patients typically die before they reach adolescence.
Titus began showing symptoms of the disease in 2013, around the time he turned 3. However, because they were no other indications of a serious condition, the Bowmans were hopeful that early-intervention speech therapy would help him develop in line with his peers.
“We were pretty encouraged at the time that that was all we would need,” Bekah, 33, told Fox News. “Looking back now, I know what it was, but at about 3 [years old] I thought he was just a rough and tumble boy— he would plow through things and fall a lot.”
Titus was eventually outfitted with a helmet to protect him from falls, but on Feb. 10, 2014, he had a seizure that would set the Bowmans’ lives on a different course. Although he was immediately diagnosed with epilepsy, 14 months later, a genetic test revealed Titus had CLN2. Wang said CLN2 patients experience a rapid decline once seizures begin, and at one point Titus was experiencing up to 100 per day.
“Right before [the first seizure], he was losing skills. He couldn’t name colors, shapes, letters of the alphabet. He was having a really hard time with that, and his eyesight was not doing well,” Bekah said. “He would fall with muscle spasms, and it got to the point where it was really scary and we didn’t know why.”
Titus was diagnosed in April 2015, and by the end of May, he couldn’t talk, walk or eat by mouth. He died September 17, 2016, when he was 6 years old.
“Titus’ diagnosis was obviously really hard,” Bekah said. “I had spent the night before researching every disease that the test we did tested for, and I actually found CLN2. When I read it, I just knew in my heart that was what we were going to hear because he was textbook.”
Wang said CHOC has treated six children with Batten disease, and the typical course of treatment is supportive care. Even though Ely wasn’t showing symptoms as severe as his brother’s when he received his diagnosis, the confirmation was no less devastating for the Bowmans. What’s different for Ely, though, is a clinical trial sponsored by BioMarin Pharmaceutical that came too late for his brother.
“They developed a manmade version of the TPP enzyme that the boys are missing,” Wang said. “I got ahold of BioMarin and told the Bowmans, ‘I’m going to do everything I can to make sure I can get this to your boys.’”
Once a patient is enrolled in the trial, doctors perform surgery to insert a reservoir device into the patient’s brain that will directly inject the medication into the brain’s ventricles. The enzymes are injected during a four-hour process every two weeks in a hospital where the treatment is offered. Though the FDA has yet to approve the treatment, it is only option available to patients like Ely.
Thus far, the treatment has shown promise in holding the disease at bay, which buys researchers and families more time to find a cure. Some of the patients have even shown improvement in motor skills that had begun to regress. Titus’ disease was too far advanced for enrollment, but Ely was accepted into the early-access program and his first week of treatment was in October 2016.
Since then, Bekah and Ely have boarded a plane every 10 days to travel from their Irvine, California, home to the Nationwide Children’s Hospital in Columbus, Ohio, which is the only center in the United States that offers the treatment. A GoFundMe page has helped them cover travel-related costs, and Bekah regularly blogs to help cope and connect with other Batten disease families. Wang is working with BioMarin and his hospital’s staff to bring the trials to their center, which would help make it more accessible to others. There is no confirmed timeline, but he is hopeful that they will begin enrolling patients within the coming months.
“This medicine was able to buy the kids time, and having to see kids decline so rapidly and see the families have so much heartbreak— it’s a very emotional thing,” Wang said. “I felt like I needed to fight, especially for Ely.”
Although it may be too soon for the Bowmans to notice the treatment’s impact on Ely, he is still able to walk and attends school with his peers. The true test, Bekah said, will come this spring when Ely reaches the age that Titus was when the seizures began. For now, she is focused on sharing their story so families are aware of CLN2 and the trial underway.
“I hope through our story we can raise awareness and maybe help kids get an earlier diagnosis,” she said. “Titus was too far along for this treatment, and that was heartbreaking— but because of him, Ely’s was caught early. We want to be a part of that movement to get early diagnoses for these kids.”