Johnathan Spencer has been battling the ups and downs of living with a rare disease referred to as childhood Alzheimer’s. At 5, he will begin a new chapter in his life when he starts kindergarten on August 22 at Rucker Elementary School.
Born with bruises and a yellow-ish tint to him, doctors required Johnathan stay in the hospital for a few extra days. After four years of tests with no end in sight, doctors thought they’d take a precaution and rule out Niemann Pick Type C (NPC). Doctors were 99 percent sure Johnathan did not have the rare disease. Weeks before his fourth birthday, on March 9, 2010 the test came back positive. Devastated by the news, parents Keith and Rebecca Spencer have done everything they can to help Johnathan. The family has flown to Virginia, Maryland and Canada to attend conferences and to speak with others who are affected by the disease.
NPC is a rare disease has been diagnosed to 500 people worldwide, 5 or 6 of which are in the United States. It attacks the body's ability to metabolize cholesterol and other lipids within the cell, 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.
NPC 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 Merrill Spencer. “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. NPC is always fatal, according to the National Niemann-Pick Disease Foundation. It typically claims its victims' lives at a very young age.
“The average age of onset on neurological (damage) is 6 and the average age of death is between 2 and 16,” said Johnathan’s mother, Rebecca Merrill Spencer.
Johnathan is taking an experimental medication called Zavesca (miglustat), which shows the NPC symptoms have slowed down. The medication is supposed to stunt his grown but at almost 45 inches, Johnathan is above average in height and weight. Both Keith and Rebecca are hopeful that the medication will give them time that they need for another treatment to come out.
“He’s on an experimental drug, lets say he was supposed to start neurological at age 6, start loosing his abilities, maybe this will give him until 8,” said Merrill Spencer.
Working tirelessly to raise money for Jonathan and receiving community support, the family has been hopeful and never lost sight of what’s important.
“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 will take Johnathan to his first day at Rucker Elementary School located at 325 Santa Clara Avenue.
The reason behind picking Rucker Elementary School was because Johnathan will be surrounded by family. His grandmother, Patty Spencer is the librarian and aunt, Kristen Lopez both work at Rucker Elementary. Rebecca also 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.
Attending seven days a week from 10 a.m. to 1:15 p.m. with a short day on Wednesday. Like any other parents, Keith and Rebecca are nervous about their child starting at Rucker.
Even Johnathan confessed to his mother that he was nervous to start school.
Johnathan is entering kindergarten knowing his ABCs, how to count and how to spell the first four letters of his name.
Like any other kid starting school, the family went school shopping. They went to Kohl’s and bought pants, shorts, t-shirts and a new pair of black Vans shoes. They are buying a new backpack and lunchbox this weekend.
Looking past kindergarten, Johnathan has big dreams of maybe becoming a doctor one day. He said he wanted to make a better tasting medicine because his doesn’t taste good.
Rebecca asked, “What do you want to put in it?”
“Banana, grape, and one drop of orange juice, two drops, three drops,” said Johnathan.
