Boise Family Focused on Here-and-Now After Daughter’s Batten Diagnosis

September 13, 2015

Hannah Rodgers was already having seizures and going blind by the time her parents met a neurologist who could care for their daughter.

But the Boise couple had a diagnosis to finally explain the bizarre problems that were setting their child apart from others on the playground.

Her parents, Trina and Bob, had observed that there was a standstill in their daughter’s ability to learn certain letters. She was having unexplained seizures.

By first grade, her teachers noticed she was holding everything inches from her face. An optometrist took one look at her retinas and knew something was seriously wrong. She referred the young girl to a special ophthalmic practice in Portland, Ore., and the devastating news came back: a rare progressive neurodegenerative condition called Batten disease.

And then the only neurologist willing to take on Hannah’s care told them up front that he had only read about Batten disease in a medical textbook.

Hannah Rodgers, now 10, is the only person in the state of Idaho with the disease.

This is a story of one family’s hunt to understand their daughter’s abrupt change of life. It is the story of love and coming to terms with the worst news a parent can hear: Your child has a fatal condition that looks terrible now but is just going to get worse. It is a story of fortitude and wanting to give Hannah everything a shortened life has to offer.

There may not be a sweet 16, but she had a blowout princess party for her 10th birthday. And she rides a bicycle for two that gives her the freedom of a sighted person. She has swim lessons to keep her afloat. Her parents have been spending months building a bedroom and bath in the space that was once their garage. It will be able to accommodate the inevitable wheelchair and all the medical equipment that will be necessary when she is no longer able to feed herself. The walls will be pink — Hannah’s favorite color.

Trina and Bob Rodgers are making a life worth living for their daughter, who lost the genetic lottery and inherited two copies of a genetic mutation unknowingly passed on by both of them. “We will do everything to keep Hannah happy,” said Trina, who knows what it means to take charge of an illness. “No one in Idaho knows anything about Batten. I have had to learn a lot, and teach a lot.”

‘Something serious’

Hannah was 2 years old when she convulsed in her mother’s arms, only seconds after waking from a nap. Her body turned stiff and she was shaking violently. The ambulance was summoned and by the time the medics arrived Hannah was fine. Her doctor chalked it up to febrile seizures, which are not uncommon in infants fighting an infection. Two years later, there was another grand mal seizure, but again her pediatrician didn’t think it was anything to worry about. “Hannah, can you skip for me?” the doctor asked. She did. And the neurologist smiled and turned to her mother.

“She’s fine,” he said.

In hindsight, Trina thinks that Hannah had drop seizures when she was a toddler. She would space out and drop to the ground. In seconds, she was up again, happy and running around.

But by age four, this second seizure seemed to have left some subtle damage. Hannah was no longer able to recite her phone number or her address. She had trouble naming colors or objects. “Whatever was going on,” Trina now says, “I knew it was something serious.”

The first neurologist to examine Hannah said “that I was making this all up and that there was nothing wrong,” Trina explained. All she wanted was a test to confirm her daughter had seizure disorder. “She was losing information. Her handwriting was getting worse, not better.” And then she had another seizure at home. An ambulance was summoned and the child was in a trance but screaming, “I can’t see.”

Batten disease is rare, occurring in two to four of every 100,000 live births. Children appear to develop normally, but symptoms of vision problems or seizures begin between ages 5 and 10. The children may have behavior and personality changes. Learning slows. There is a progressive loss of sight and worsening seizures. In time, the children are bedridden and demented. It is fatal by the teens or early 20s.

The condition is made up of a group of genetic mutations that are called neuronal ceroid lipofuscinoses, or NCLs. When both parents are carriers of one defective gene they have a one in four chance of passing the disease on to their children. Their healthy children have a 50 percent chance of being a carrier as well.

The symptoms are triggered by a build-up of cellular debris, fats and proteins, that can’t be cleared away. These lipopigments build up in the brain and the eye and in skin and muscle.

There are no known treatments that stop this degeneration, although there is research ongoing to develop enzyme replacement therapy, gene therapy or stem cell therapy and drugs that might be able to clear out the abnormal accumulation of the fats and proteins.

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