Gilroy child with rare disease reaches kindergarten milestone

Johnathan with dad Keith Spencer in a recent photo.

Five-year-old Johnathan Spencer has been battling the ups and
downs of living with a rare disease referred to as childhood
Alzheimer’s. But Monday was a new chapter for Johnathan. It was the
day he became a Rucker Elementary School kindergartner.
Five-year-old Johnathan Spencer has been battling the ups and downs of living with a rare disease referred to as childhood Alzheimer’s. But Monday was a new chapter for Johnathan. It was the day he became a Rucker Elementary School kindergartner.

(Read a past story about Johnathan from April 2010.)

His parents, Keith and Rebecca Spencer of Gilroy, were devastated by the news in 2010 that then-4-year-old Johnathan tested positive for Niemann Pick Type C. It’s a rare disease that has been diagnosed to just 500 people worldwide, five or six of whom live in the United States. It attacks the body’s ability to metabolize cholesterol and other lipids within the cells, causing large amounts of cholesterol to accumulate within the liver and spleen and excessive amounts of other lipids, or fatty tissue, to accumulate in the brain.

The Spencers have done everything they can to help Johnathan – flying to to Virginia, Maryland and Canada to attend conferences and to speak with others who are affected by the disease.

The disease is often referred to as “childhood Alzheimer’s” because it causes neurological impairment and often causes children to be bedridden.

“Most children don’t get diagnosed until neurological hits because they don’t know anything is wrong with them, they’re so normal except for their liver and spleen,” said Rebecca. “Most children don’t get diagnosed until they start hitting walls and they’ll forget who you are.”

Needle pricks and experimental medications are a constant reminder that there is still no cure for NPC, a genetic neurodegenerative disease – and it’s almost always fatal, according to the National Niemann-Pick Disease Foundation.

“The average age of onset on neurological (damage) is 6 and the average age of death is between 2 and 16,” said Rebecca.

Johnathan is taking experimental medication called Zavesca, which has slowed down his NPC symptoms. The medication is supposed to stunt his growth but standing at almost 45-inches right now, Johnathan is above average in height. Both Keith and Rebecca are hopeful that the medication will give them time that they need for another treatment to be released.

“We had the two benefits that were amazing, we raised over $25,000 for Niemann Pick. The community has been the most amazing this past year,” said Rebecca.

On Monday, Keith and Rebecca took Johnathan to his first day at Rucker Elementary on Santa Clara Avenue. The reason they chose Rucker was because Johnathan will be surrounded by family. His grandmother, Patty Spencer is the Rucker librarian, and Aunt Kristen Lopez works there also. And, Rebecca grew up with Johnathan’s kindergarten teacher.

“He’s going to have eyes everywhere. That’s where they’re going to see it first (neurological symptoms),” said Rebecca.

Like any other parents, Keith and Rebecca are nervous about their child starting at Rucker.

“If it was up to me he wouldn’t be going,” joked Rebecca. “I would have him stay home.”

Even Johnathan confessed to his mom he was nervous to start school. But, he’s been practicing even still; Johnathan started school Monday knowing his ABCs, how to count and how to spell the first part of his name.

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