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.”