From left: Kaleb, Barbara, Jaylen, Alex and Mia Diaz. Photo courtesy of Susie Marie Photography
In January 2013, Alex and Barbara Diaz found themselves in an ambulance rushing their 2-year-old son, Kaleb, to the emergency room after a seizure. He had an ear infection and a fever, and the Diazes were told it was most likely a febrile seizure, common in young sick children, usually harmless.
All tests came back normal, and three days later, the family was sent home from the hospital with many questions but few answers. The Diaz family didn’t know it at the time, but the Tri-Village area would become one of those answers.
Just three weeks later, their daughter Mia, a year older than Kaleb, suffered a seizure as well. Barbara took Kaleb, Mia and oldest child Jaylen to Florida to stay with family. Alex, a member of the U.S. Army, was unable to leave their home in upstate New York. A Florida doctor diagnosed Mia and Kaleb with epilepsy, but after trying three types of medications, the children were still suffering seizures regularly.
More tests and months later, it was revealed that Mia and Kaleb’s cerebellums were unusually small. Ten months after Kaleb’s first seizure, they had a diagnosis.
“(The doctor) was just kind of, ‘I’m sorry, I have bad news, and the worst thing is I can’t fix it,’” says Barbara. “He kept saying that part: ‘I can’t fix it.’”
Barbara Diaz with Kaleb. Photo courtesy of Susie Marie Photography
The Diaz family didn’t know it then, but Mia and Kaleb were suffering from late infantile Batten disease, or CLN2.
Batten has 14 types, CLN1 through CLN14 – and it is estimated that all 14 types combined affect only 1,000 children across the U.S. It affects cells’ ability to dispose of wastes, and is passed to the child by both parents. Affected children end up in wheelchairs, requiring feeding tubes and losing their sight. Life expectancy is 8 to 10 years old. There is no cure.
“By age 5, they could be in a wheelchair, on a feeding tube, have massive numbers of seizures, not able to see, not able to walk, not able to feed themselves, not able to communicate,” says Margie Frazier, executive director of Batten Disease Support & Research Association (BDSRA) in Grandview Heights. “Then, often, these kids are gone from us by 10 or 11. It’s heartbreaking and devastating.”
“It just kind of feels like your world stops, and everything (else) keeps going,” Barbara says. “That’s the best way I can describe it.”
Photo courtesy of Susie Marie Photography
From left: Maddox, Matthew, Micah and Misty McCorkle
With the help of BDSRA and families they connected with on Facebook, the Diazes scoured the Internet, searching for anything that might help Mia and Kaleb. They found a clinical trial in progress that might help Mia and Kaleb, but it was only available in Germany.
“We wanted to pack up and leave,” says Barbara.
In early 2014, the trial expanded to a single location in North America: Nationwide Children’s Hospital, to be close to BDSRA. The Diazes had just moved to Colorado Springs, Colo., and Mia was not doing well. In order to accept her into the trial, clinicians requested a video of Mia walking and talking to ensure she was well enough. She was barely eating, and having difficulty walking. She was suffering seizures every 20-40 minutes, six days a week. Then, Mia did the unexpected.
“As soon as we moved into the house in Colorado, the first thing she did was she stood up and she started running around the house,” says Alex.
“Mia needed 10 steps, and she did 18,” says Barbara. “I think that was probably her last chance to get in.”
Mia was accepted into the trial, and immediately, the Diazes relocated to Grandview with the help of BDSRA. However, the Diazes still had Kaleb, who could not join the trial.
“It was bittersweet,” says Barbara.
However, the Diazes’ hopes weren’t in vain. Last July, 18 months after Mia’s trial began, Kaleb was one of six children added to a sibling trial.
“It felt like the world was lifted off our shoulders,” says Alex.
Birth of the Sibling Trial
Misty and Matthew McCorkle were aware of the original Nationwide Children’s Hospital trial, and weren’t disheartened their son Micah wasn’t included in the original three.
“We were told that they weren’t taking any more children, and I was persistent,” says Misty. “When the idea came up of possibly being accepted to the trial, there was no question that we would be moving.”
Micah first suffered seizures in June 2014, and, like the Diazes, he received a diagnosis of epilepsy before the Batten diagnosis in mid-2015. He was losing his speech and ability to walk. Their older son, Maddox, now 8, understood what his brother was going through. When Misty and Matthew left for Ohio in hopes of getting Micah into the trial, Misty says Maddox was ready to move, too.
“He knew what Micah had, and he knew the only possibility to help Micah was to move,” says Misty. “When we left, the first thing he said was, ‘Mommy, please call me and tell me the doctor said yes.’”
Last August, Micah was in the hospital with pneumonia when floodwaters swept through the McCorkles’ hometown of Holden, La. The McCorkles lost their home and most of their possessions. Mere weeks later, they learned Micah would be one of the six new participants. They immediately packed up what the flood had left and moved to Grandview. Misty describes it as “culture shock,” but immediately found a home here.
“We met the special needs teacher, and as soon as we walked in the door, she said, ‘Oh my gosh, it’s Micah, we’re so glad to have you here,’” says Misty. “It’s like family.”
The trial includes children with CLN2 ages 4 to 13. Every two weeks, Nationwide Children’s administers the drug into a port in the children’s skulls. Each infusion takes about four hours. So far, the trial has shocked everyone.
“These kids don’t have the lysosomal capacity to eat this junk, so it’s building up, so it’s a constant battle in their brains,” says Frazier. “When they have that stasis in the brain – when they have that enzyme – they can pick up new things. They can learn a new word. We had kids who weren’t walking well who can now climb steps by themselves. And are very proud of it. Very proud.”
It’s still too early to tell for Kaleb, now 6, but the trial’s impact on Mia, now 7, cannot be disputed.
“We’re going on a year without a seizure,” says Barbara. In unison, she and Alex knock on their wood coffee table.
Not only have Mia’s seizures disappeared, she has relearned potty training, is relearning words and she’s even walking. Micah, now 5, who has only been in the trial since September, is relearning words as well.
“Right after his first infusion – it sounds bizarre – but he started saying mama, daddy,” says Misty. “It sounds so strange. I wish I would’ve recorded it, but goodness. It just – joy. It brought so much joy to my heart.”
Should the trial results continue to progress, Frazier says, the drug will be commercially available in April. However, a cure has still not been found, and 13 more forms of Batten have yet to see a trial as conclusive as this, so BDSRA shows no signs of stopping.
“We’re all thrilled about this, it’ll be a huge victory for our community,” says Frazier. “We will not stop until other families with other forms of the disease have the same opportunity.”
Amanda DePerro is an assistant editor. Feedback welcome at email@example.com.