For the first three years of his life, Marc was an average kid from a small town in Louisiana. Marc's mother, Hannah, says he loved music, tractors and lawn mowers. He was learning to talk and walk and use the potty.
But then he had his first seizure. And then more seizures in his sleep, where he would gag and throw up. His pediatrician recommended he visit specialists in the Children's Health℠ Department of Pediatric Neurology. There Marc was given anti-seizure medicines, but his seizures got worse.
Six months later, Marc started having myoclonic-atonic seizures every one or two minutes. During these seizures, he would lose full control of his body and fall to the ground, making it dangerous for him to walk or play. Then Marc had his first full-body convulsive seizure, also known as a tonic-clonic (grand mal) seizure. He lost consciousness and his entire body shook.
"My heart hurts for any parent who has had to watch their child have a seizure, especially a grand mal seizure," Hannah says. "There's nothing scarier."
His neurology team at Children's Health ordered a genetics panel. Three months later, Marc's family learned the cause of his seizures.
A rare diagnosis
Marc's genetic counselor, Ryan Smith, delivered the news: Marc had Batten Disease, a very rare condition that can cause cognitive decline, seizures and vision loss in children. Ryan walked Hannah through the details of the disease, answering all the questions she had and providing her with advice on what to do next.
"Batten disease is a neurodegenerative condition," says Saima Kayani, M.D., a pediatric neurologist at Children's Health and Assistant Professor at UT Southwestern. "One of the early signs is seizures, followed by a relentless disease process with progressive dementia, like Alzheimer's disease. Over time, they lose the ability to walk, speak, eat and even recognize people."
The diagnosis completely changed the Long family. Hannah, a teacher, quit her job to care for Marc and his younger brother, Seth, full-time.
"It is a cruel disease," Hannah says. "I've heard it described before as the long mourning. You mourn the loss of things gradually, not in an instant. To mourn the loss of your child gradually every day – you wouldn't wish that on your worst enemy."
A new treatment brings new hope
Fortunately, Dr. Kayani can offer the best for Marc. She is the only doctor in North Texas to offer new enzyme replacement therapy, Brineura®, the only medicine approved to treat Batten disease.
Children with Batten disease are missing a crucial enzyme that helps their cells break down proteins in the brain. Without this enzyme, toxins and proteins build up in neurons (brain cells) and cause the cells to die. As more cells die, children begin to lose abilities, like walking and talking.
"We are racing against time with this diagnosis," Dr. Kayani says. "It's very important that kids get treatment right away. Every month counts to prevent the consequences of this disease."
When Dr. Kayani and her team met Marc, they moved fast to set his care plan in motion. Within days, Marc started the first phase of treatment: a surgery to place a reservoir inside his brain. This reservoir would hold Brineura®, a man-made version of the enzyme that Marc is missing. Dr. Kayani and her team inject medicine slowly, directly into the reservoir in Marc's brain. With the enzyme available, his brain can clear out toxins, preventing neurons from dying.
Six days after the surgery, Marc received his first dose of the medicine. He has continued to receive treatment every two weeks since then. His care team and family have seen the medicine give Marc new abilities and new hope.
"Before infusions, he was not walking," Hannah says. "Since infusions, Marc has been able to walk in a gait trainer fairly often. He's been able to stand up against the couch and relearned how to crawl. I know it has helped with his physical abilities."
While enzyme replacement therapy feels like a miracle for Marc, it is only possible with the outstanding dedication from Marc's family. Every two weeks, his mother drives four hours with Marc to Dallas. They spend the night in the Ronald McDonald House, then spend the entire next day receiving Marc's treatment at the Special Procedures Unit at Children's Health.
It takes an hour and a half for his medicine to thaw once he is checked in, then five hours for the medicine to be infused into his brain. He spends another hour under observation before Hannah drives them four hours back home to Louisiana.
Throughout their stay, Child Life specialists visit Marc with activities and games they know he likes. Over time, the Long family has gotten to know the staff at Children's Health well.
"The staff in general is so wonderful," Hannah says. "I cannot speak highly enough of the 24-hour line nurses, nurses in the procedure unit, the Child Life team, the doctors, they all do such a good job."
Marc also receives physical therapy and speech therapy an hour away from his home. Combined with his infusions, these therapies are helping Marc regain skills he's lost and even gain new skills.
"Every time I see him, he is getting some new words," Dr. Kayani says. "His seizures are under good control. He sits on his own and is willing to take steps with his walker. With therapy, I am optimistic he can continue to make progress."
A hopeful future for children with Batten disease
Children's Health is the only place to receive treatment for Batten disease in North Texas and the closest center to Marc's home in Louisiana. Neurologists at Children's Health are nationally recognized experts. They care for a wide range of neurologic conditions in children, from the common to the extremely rare. Currently, Dr. Kayani and her team treat three Batten disease patients with Brineura®, all of whom travel hours to see her.
All of their patients have made progress with walking and talking. One child, who has received treatments for three years, is even attending kindergarten. But without treatment, these children would likely be confined to a wheelchair and unable to speak.
Today, Marc is 5. While he's improved, he doesn't talk as much. He is no longer potty trained, and he can't use utensils to eat on his own. But for Hannah and Marc's family, there is hope for his future.
"He's a happy child," Hannah says. "He wants to sing and play and go places. We try to do anything that would make him happy."
Currently, clinical trials in Europe are testing gene therapy for Batten disease. This therapy would help the brain make its own enzymes. This treatment, combined with enzyme replacement therapy, may help children, like Marc, make more progress and regain more skills.
Dr. Kayani remains hopeful for this treatment and for Marc's future.
"I hope a gene therapy will become available and he can get that treatment as well," Dr. Kayani says. "I hope for him to have a healthy and happy life where he can walk to school and he and his family get to enjoy his childhood with no seizures."
Hannah, too, holds onto hope and prays each day for the doctors looking for a cure.
"If those doctors who are working on a cure are out there and they read this, we are praying for you," she says. "What you are working on is making a difference for our son and other children who are suffering from this disease."
Learn more about our expert neurologic care
Children's Health℠ offers advanced treatments for children with all types of common and rare neurological disorders. That's why U.S. News and World Report rates our neurology program among the best in the country. Learn how we care for children with neurologic conditions.
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