Kids Living With Dementia Diagnosis – 4 Year Old Johnathan Spenser’s Story

  Johnathan Spencer has Niemann Pick Type C disease like Addi and Cassi.

Embracing every moment

Thursday, April 29, 2010

By Sara Suddes (ssuddes@gilroydispatch.com):  Photo by: Lora Schraft, Staff Photographer, Gilroy Dispatch  

Every morning, Johnathan Spencer’s mother dissolves the contents of a pill containing an experimental drug into a cup of water, draws the solution into a syringe and squirts the foul tasting liquid into her 4-year-old son’s mouth. With little more than a wince, he swallows the medication, hops down from his stool and resumes playtime.

“Look at him. Does it look like he has a terminal illness?” asked Patty Spencer as she watched her grandson blow bubbles with his cousin, Landon, in her backyard. The boys swatted at a few stray blue and black balloons and streamers, the remnants of Johnathan’s birthday party. Other than a couple inches, few differences separated the two. Johnathan tugged open the sliding glass door and poked his head into the living room.

“Can we swing?” he asked his grandmother.

Doctors at Lucile Packard Children’s Hospital recently diagnosed Johnathan with Niemann-Pick Type C, a genetic disease so rare there are only about 500 known cases worldwide. The disease attacks the body’s ability to properly metabolize cholesterol and other lipids within the cell, causing excessive amounts of cholesterol to accumulate within the liver and spleen and excessive amounts of other lipids – or fatty tissue – to accumulate in the brain.

Sometimes referred to as “childhood Alzheimer’s” because it causes neurological impairment so severe it often renders children bedridden, Niemann-Pick Type C is always fatal, according to the National Niemann-Pick Disease Foundation. It typically claims its victims’ lives by the time they turn 20.

The day Rebecca Merrill Spencer received the news that her son is one of about 150 people in the country with the disease is seared in her memory.

“I swear I relive this phone call so many times a day,” she said.

The geneticist that tested her son warned her not to look up Niemann-Pick – a disease doctors hoped to rule out after drawing a blank on the cause of Johnathan’s chronically enlarged liver and spleen, a mysterious condition he’s had since birth.

“‘We’re 99 percent sure he doesn’t have it,'” Rebecca remembered the geneticist telling her.

After the doctors ran the test, “I forgot all about it,” she said.

“No you didn’t,” her sister, Kim, interrupted. By reading everything she can get her hands on, Kim is working to organize what little information is available about Niemann-Pick into a website telling Johnathan’s story. Sitting on Patty’s couch, the two sisters rehashed “the day we will never forget” – as they refer to March 9, 2010.

The phone rang about 4 p.m. that day. As a blood technician who works nights, Rebecca was sleeping when her nephew woke her up to take the phone call.

“‘Rebecca, it’s not good news,'” Rebecca remembered hearing over the line.

“And I just started screaming,” she said. “I couldn’t breathe.”

Shortly after Johnathan’s birth, he landed back in the hospital with what doctors thought was jaundice. Test results showed that the level of his bilirubin – a brownish yellow substance excreted in bile and urine that is responsible for the yellow color of bruises, urine and the yellow discoloration of jaundice – were more than 10 times normal levels. After a month of needle pricks from daily blood draws, four platelet transfusions and a spinal tap, Rebecca and Johnathan’s father, Keith Spencer, took their infant son home with many unanswered questions. His liver and spleen remained larger than normal, a telltale symptom of Niemann-Pick, but doctors told his parents, “‘Oh, it’s nothing,'” Rebecca remembers. “‘He’ll grow into it.'”

“He was convinced he had a baby in his belly,” said Patty, remembering how her grandson would mimic his aunt, who was pregnant at the time. “We played into it so that he would be careful.”

Other than the enlarged organs, Johnathan’s life returned to normal as the ailments that plagued his infancy faded into little more than a memory.

When Rebecca started a new job at Dominican Hospital in Santa Cruz, her insurance bumped them over to doctors at Lucile Packard who took another stab at identifying the source of Johnathan’s swollen liver and spleen.

Last July, Johnathan underwent a liver biopsy and the geneticist who later informed Rebecca of her son’s disease pushed to run that one final test.

“Looking back, everything makes sense now,” Rebecca said.

Not able to sit still for long after receiving the diagnosis, Rebecca started making phone calls and landed an appointment at the National Institute of Health in Bethesda, Md. One week later, she, Keith and their son were on a plane.

“Johnathan’s blood is like gold,” Kim said, explaining how her nephew’s case is so unique because of how early doctors detected it – before he started showing neurological symptoms.

“The doctors are blunt with us,” Rebecca said. “It’s in his brain. He might not show neurological symptoms at this point, but it’s there.”

Keith and Rebecca aren’t sure their son will live to see his 15th birthday.

“We live every day in hope,” Kim said. “We have to live partially in hope and partially in denial. And occasionally, you fall on the floor. But we can’t spend too much time crying on the floor because we have a 4-year-old to raise.”

Despite the uncertainly and $2,000 in weekly expenditures for Jonathan’s medication, Johnathan’s family is hoping he’ll lead as normal a life as possible. They catch themselves sometimes from searching for symptoms or mistaking his typical childhood clumsiness for the disease. Rebecca held back tears when her son told her about how he wants to become a pilot when he grows up.

“You worry and are nervous about every step he takes,” Keith said. “But you try not to let on to him.”

“All he knows is that he’s got an owie in his tummy,” Rebecca said.

“Well, he knows something serious is going on,” Kim added.

“Because Mommy cries all the time,” Rebecca said, finishing her sister’s sentence.

An outpouring of support from the community and talking to other parents of children with Niemann-Pick helps Johnathan’s parents move forward. The two are divorced but remain best friends and lean on each other in times of need.

“I have my moments,” Keith said. “Sometimes I just lose it. But I’m trying to stay as strong as I can for Becca and Johnathan.”

Family members have dedicated themselves to raising money to put toward research and, one day, hopefully finding a cure.

“We don’t know what tomorrow’s going to bring,” Rebecca said. “We don’t have a timeline. But we do have hope that he’s going to survive, and every prayer counts.”

Visit www.johnathanspencer.org