Q.What is Niemann-pick type C disease?
Niemann Pick Type C is a genetic disease where harmful amounts of cholesterol (called lipids), accumulate in his spleen, liver, lungs and ultimately brain. Cholesterol is getting stuck inside millions of Johnathan’s cells and causing a massive traffic jam in his tiny body. The cholesterol causes his cells to die off prematurely, especially neurons.
Q What are the symptoms?
A child with NPC suffers from symptoms that cause the disease to be referred to as “Childhood Alzheimer’s.” The disease itself renders its victims backward in time and they forget how to perform basic functions, such as talking, walking, eating, chewing, swallowing, and breathing.
What does this mean? It means that Johnathan and other children like him, who suffer from this disease will regress if no cure is found. The baby that learned how to talk, the toddler that learned how to walk, and the young child that learned how to play, forgets how to do all of these things, as they travel backward in time to their infancy, and lose their memories until the disease takes their lives. Children with this disease rarely live into their teenage years.
There is no “norm” to go by with this rare disease. Each child is affected differently and at different rates. But what is certain is that if we do not find a cure, every child with this illness will suffer and eventually this disease will take their lives prematurely.
Q: Is There A Cure?
Currently, there is no cure for Niemann-Pick Type C. There is only one therapy available, with an off-label drug therapy with a drug called Zavesca which Johnathan will be taking soon. This drug does have side effects and is not a magic pill. This drug does not stop the disease, but has been shown to help slow the progression of the disease by a little bit. There are many other compounds that are currently being tested to see if they show help in slowing the progression of the disease as well. Recently hydroxypropyl beta cyclodextrin (HPBCD) was approved under compassionate use by the U.S. Food and Drug Administration (FDA) to treat identical twin girls suffering from Niemann Pick Type C disease. This is very new and only time will tell if this is the answer. The huge steps taken to find this new drug were done by parents of children with NPC. They raised funds from family and friends and they ARE making a difference.
Q How did Johnathan get NPC?
Johnathan was born with NPC. It is passed through genes from his parents who are carriers but because they only have one mutated gene, they are not affected.
How is Johnathan’s health currently?
Johnathan is a bright loving little boy who seems quite healthy from the outside. He enjoys preschool and is learning very quickly. He is very social and enjoys playing with his friends and cousins. But testing will be done soon to see what effects NPC has had on his brain so far.
Physically Johnathan suffers from an enlarged spleen and liver (with symptoms of cirrhosis). Both are currently larger than an adult’s due to the lipids collecting. He will have to be cautious in protecting those organs which is not an easy thing to do when you are a playful 4 year old. Johnathan may need a “spleen” guard to protect his spleen in the near future.
We feel blessed Johnathan is doing so well but that also makes this a race against time. We do not know how much longer we have until he starts showing signs.
WE NEED TO HELP FIND THE CURE before it progresses any further in Johnathan.