Johnathan's Story
Johnathan was born on March 25th 2006 to his parents Rebecca (Becca) & Keith Spencer. Other than his mom suffering from a strong case of PUPPP (a type of rash common in the third trimester of pregnancy), both mom and baby did beautifully through his birth.
But shortly after his birth the test showed he had a high direct bilirubin. Most babies have high indirect bilirubin but at the time we didn’t understand the difference so we were only slightly alarmed. He was kept for a couple extra days but they released him with without any real answers.
A few days later his color didn’t seem to be improving (he was yellow from the jaundice) and Becca felt something was really wrong (he appeared more yellow and had a fever of 101*). On April 4th 2006 Becca and Keith took him to get looked at. When his pediatrician saw Johnathan, he told them to go up to the hospital immediately. When they arrived at the hospital a room was already ready for Johnathan and they were told “he’s just a little jaundiced” so put him under lights and took blood. About an hour later the results were back but they didn’t seem possible so the doctor re-did the blood work. The test came back the same- When he left the hospital after birth his level was 1.6 and it then rose to 17.5 direct bilirubin level and we were told it was life threatening. The nurses came in and took him out from under the lights and put in an IV. They told them he would need a spinal tap because they believed he had bacterial meningitis and he had less than 2000 platelets when a normal level is from 150,000-450,000. This meant at any time he could have a brain bleed and we could lose him. They were told that they were not able to care for critical patients at their hospital and they needed to transfer him. When they arrived at the pediatric ICU in Santa Clara, the new doctor came in and told them that the tests were wrong- there was no way Johnathan could be this sick. According to the test results, Johnathan should have been stiff, and non-responsive. At 10 days old Johnathan was very alert, feeding well, and holding up his head. All of the doctors were shocked at how well he appeared. The new tests results came back and confirmed the original findings. At that point the doctors immediately ordered platelet transfusion and started a high dose of IV antibiotics. Normal babies usually only need one platelet transfusion to restore their levels to normal, Johnathan needed FOUR because they would go up slightly then fall back again.
Over the next month Johnathan had around ten IV's, two picc line attempts, a central line, four transfusions, a HIDA scan, a spinal tap, many ultrasounds and daily blood draws that collapsed all of his veins. He looked like a severely beaten baby. And if that wasn't bad enough, they told us that there was a high chance of brain damage and he might be developmentally delayed. 
Johnathan underwent all these numerous tests and procedure to try and determine the cause, which they never found out. Johnathan returned home with many unanswered questions. Throughout his first year his liver and spleen remained enlarged, his liver enzymes were high and his direct bilirubin was still above the normal range. He also went through RSV and semolina poisoning.
Even with everything Johnathan went through that first year, he hit all his major milestones.
He was a happy beautiful baby and the joy of his parents’ lives.
Over the next three years Johnathan continued with Kaiser and were sent to GI specialists. With his liver and spleen being so large, Becca and Keith were still concerned yet still getting no answers. At one point they were told by the GI doctor that he had seen many children with enlarged spleens and livers and “it was nothing and they turned out perfectly healthy”. Often times they were dismissed and told that Johnathan would “grow into his organ size” but none of that seemed right. With Johnathan appearing to be a normal happy healthy toddler this made it even more difficult for his internal issues to be taken seriously.
An ultrasound was done at one point that showed Johnathan’s liver to be “fatty” from what they could see. But nothing was ever done and still no answers.
Meanwhile Becca went on to become a Phlebotomist and started a new job at Dominican Hospital. This meant a change in Johnathan’s insurance and new hope that our fears would be put to rest by finding and answer to Johnathan’s medical issues.
Johnathan was quickly referred to Lucile Packard’s Children’s Hospital shortly after the switch. The doctors took on the task with determination to find the cause of Johnathan’s medical issues. They did a liver biopsy on him and while it didn’t “look right” there were no answers. The doctors did not give up though and said they would continue to look for the cause. Meanwhile the genetics department at Lucille Packard preformed every genetic test they could possibly think of. Everything kept coming back normal. In early 2010 Becca was asked once again to take Johnathan for another genetic test for a rare disease. The doctor was certain he did not have this disease but wanted to rule out everything. Becca wasn’t alarmed as he had done so many tests but was told not to look this disease up because the outcome was so terrible. Becca looked it up anyway and was horrified by this genetic disease but was certain her little boy didn’t have it.
On March 9th 2010 Becca got a call and our entire world was shaken by the news- Johnathan has Niemann Pick Type C (NPC) a genetic neurodegenerative disease that has no cure or approved treatment and is fatal. I am not sure a parent could get worse news.
The first month after getting the gut wrenching news flew by because it will filled with phone calls, appointments and outreach of support throughout the entire community.
After much thought and research we felt our best bet was starting Johnathan on Zavesca (miglustat) which has not been approved by the FDA. We were hopeful but worried that insurance would not cover this medication. After about a week wait we got word that they would cover the drug under “off label” and this would save our family over $100,000 a YEAR! Zavesca (miglustat) is not a cure but it shows hope of slowing down the disease (we hope until a cure is found).
Johnathan also started a clinical trial in Washington DC with the National Institute for Health. He has undergone a battery of tests to get a baseline before starting the medication and he will then be retested in six months to see where he is at.
So far Johnathan’s NPC symptoms are few- enlarged fatty liver, enlarged spleen and some neurological high frequency hearing issues that doesn’t affect his daily life. We hope that we are able to keep him this healthy but unless something new is found he will deteriorate. Please help us save Johnathan and all the other children suffering out there with NPC!
