‘Death by papercut’: O’Fallon family cares for son with rare disease

Jim and Chrissy Johnson have a few large photos framed in the living room of their O’Fallon home. In two of them, their younger son, Boston, is only a few years old and walking on his own. In one, he wears a hint of a smile on his face.

In another area of the same room, Boston, now 8, sits in a wheelchair, unable to speak, move or eat by himself. He has lost all motor skills. But, sometimes, he can still smile.

“I heard someone once say ‘death by papercut,’ and I thought of Batten’s,” Chrissy said on the disorder Boston has because that’s how his disease progresses — slowly, then all at once.

Batten disease is a rare, genetic and usually fatal disorder that preys on the nervous system. According to the National Institute of Health, the body’s cells aren’t able to dispose of waste, so the proteins and fats that are meant to be disposed are instead built up within the cells.

Batten disease, also known as Spielmeyer-Vogt-Sjögren-Batten disease, is named after the British pediatrician Frederick Batten, who first described it in 1903.

Boston was diagnosed with the disease when he was 2.

Batten appears mostly in young children, although an adult variation exists, and starts seemingly out of the blue. One day, the affected person may be normal. The next, he or she could be having seizures.

Those first symptoms often include vision loss and behavior changes followed by seizures and loss of motor skills. Eventually, the patient is expected to die. With Boston’s variation of the disease, CLN1 or infantile onset, he was only expected to live to the age of 5.

“He was born normal. We didn’t think anything was wrong, until he did start having seizures at 2 1/2. But over the course of 11 months, he lost his motor skills, he lost his speech, was unable to walk, his seizures got worse,” Chrissy said.

Jim recalled the first few incidents that made them realize something might be wrong. Two-year-old Boston had fallen over a toy, and his arm started trembling. The next few weeks he started tripping and stumbling more often.

“There could be one toy in a room, and he would trip over it,” Jim said, as the disease takes away the patient’s vision and depth perception. Boston is now considered legally blind.

Those incidents began an 11-month saga to find a diagnosis. Since only two to four out of every 100,000 people have Batten disease, most doctors don’t immediately test for it. They usually misdiagnose the symptoms, like in Boston’s case, as autism, blindness, or epilepsy.

The rarity stems from the fact that the disease only appears when two affected genes — one from each parent — are paired together. The couple’s child would then have a 25 percent chance of having the disorder. For instance, the Johnson’s older son, Braden, 15, does not have Batten.

“When they get the diagnosis, our families usually tell us they are in a blur,” said Margie Frazier, executive director of the Batten Disease Support and Research Association (BDSRA). “Their kids look normal, and they are in shock when their doctors tell them that it’s Batten.

She added, “Grieving usually begins at diagnosis.”

With Boston’s regression during those 11 months, however, it didn’t surprise the Johnsons that they were dealing with something menacing. They had to “slowly mourn” each skill Boston had lost. It was heartbreaking to know their once “mischievous” little boy would not be able to kick a ball anymore, lie down with their two dogs (Brick and Stoney), or play football, as big brother Braden, a sophomore at O’Fallon Township High School, does.

“There are kids the same age as Boston. To see them play and see Boston not be able to, that’s hard,” Jim said.

Since no treatments outside of clinical trials currently exist, the affected person worsens over time. In most cases, that’s the reality that families face, especially since many trials for the infantile variation require an early diagnosis.

This has empowered the Johnsons to raise awareness for Batten disease. An early diagnosis for Boston wasn’t possible, so he undergoes no treatment for the disorder, and his medication focuses solely on containing his seizures.

He once had an estimated 100 seizures every day, which curbed down to around 30-40 with some medication. Since starting the Ketogenic diet, a high-fat and low-carb regime, he has had none.

He also undergoes physical and occupational therapy once a week and respiratory therapy a few times a day. Next to Boston’s wheelchair, Jim and Chrissy have a suction machine that they use on Boston several times an hour. The machine prevents Boston from choking on his own saliva, since he no longer swallows.

“To us, this is normal because we’ve been dealing with it for so long,” Jim said. “You do what you do for your kids.”

The family still camps with Boston, and when football season starts at O’Fallon, they take him to practices and games to watch his older brother on the varsity team play. It’s important for them to not dwell on what’s to come and to take each day at a time.

Jim and Chrissy’s friends understand why it’s challenging for them to go out, and Braden’s friends are supportive. But every year the family goes to an annual BDSRA conference to meet other people going through the same struggles.

This year’s conference was last week in St. Louis and the participants attended different events and engage in various activities. Chrissy calls it their “yearly therapy” because it’s the only time in the year when they can talk to families just like them.

“Everybody (else) says, ‘I don’t know how you do it.’ He’s not an old newspaper, he’s our son,” Jim said.

But Jim and Chrissy try to be as normal as possible for another reason: Braden. They worry about how the disease affects their older son, especially since he and Boston were so close when they were younger. The conference offers separate sessions for the siblings, where they get together, go to sporting events and talk about their experiences.

“We have to show him we can overcome things like this,” Chrissy said, “and just be normal.”

Sometimes, it almost feels normal, too. Boston might not be climbing over furniture like he once did, but when he’s in the mood and hears his dad’s voice or other certain noises, he could still respond with a smile.

“I think smiling is fully the only thing he hasn’t lost. His smile actually keeps us going sometimes,” Chrissy said, “letting us know that he’s still there.”

This story was originally published July 25, 2016 at 7:00 AM with the headline "‘Death by papercut’: O’Fallon family cares for son with rare disease."