Watching Johnathan Spencer and his friends race around his back yard you can’t tell which of the four boys suffers from Niemann Pick Type C (NPC), a.k.a. “Childhood Alzheimer’s.” Although Johnathan’s spleen, liver, and lymph nodes are enlarged, he shows no neurological damage except for some hearing loss.
The disease is extremely rare, and most children are diagnosed between 6 and 10 years of age, according to Johnathan’s mother, Rebecca Merrill Spencer.
“He has hit magic 6,” his mother said, 6 being the average age at which many NPC patients begin to show neurological symptoms. “We worry all the time, but do our best to stay positive.”
NPC patients aren’t able to metabolize lipids, so cholesterol builds up in the liver and spleen, and other lipids accumulate in the brain. The disease is known as Childhood Alzheimer’s because the progressive decline caused by lipid buildup can result in dementia.
As of now, NPC has no cure or approved treatment and is fatal—unless a cure is found.
In an effort to find a cure Rebecca is holding a blood drive on April 21 at Gilroy’s . She’s hoping healthy children between the ages of 3 and 11 will attend so their blood can help researchers find a solution.
“The sample we need is very small,” Rebecca said. “Just two tablespoons of blood. Some people seem angry when we ask that children donate blood, but this is a childhood disease. Adult blood won’t help researchers find a cure.”
Local heroes Talan Santos and Conner Cook, both 6, and 8-year-old Tadan Cook are ready to brave the needle and give small samples of blood to help their buddy, Johnathan. To make the blood drive a success, though, Rebecca is hoping to have 50 children participating and 25 children who actually give a sample of blood, she said.
Johnathan’s mother is fighting the disease not just for her son, but for other families facing the devastating diagnosis as well.
“Many of the friends we’ve made who have NPC have passed away,” Rebecca said. “We hope that researchers can find ways to help Johnathan and other children who have NPC, but also develop infant screening tests to help families know that their children may be at risk for the disease.”
Because NPC is so rare, it’s extremely difficult to diagnose. A child can have unexplained liver and spleen issues for years before doctors discover that NPC is to blame. In Johnathan’s case, he showed health issues at one month old, but despite a battery of tests, it took four years before doctors were able to diagnose him.
A Day of Fun
On April 21, children brought to the event will have pizza (donated by Rebecca), carnival games run by the South County Derby Girls and donated by First Baptist Church, as well as toys and prizes.
“We’re seeing this as a day of fun and of hope,” Rebecca said. “The sample we need is so small—we hope what people remember at the end of the day are the games, the prizes, the pizza, and the fun.”
To participate, bring your child between the ages of 3 to 11 to First Baptist Church on April 21 between noon and 3 p.m.
Johnathan’s family would like to thank the Gilroy community for the support shown for Johnathan, whose story can be followed here.
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