March 9th 2010 our family received devastating news, our 3 year little man Johnathan had a rare and incurable disease called Niemann Pick type C. We were told by all the doctors that Johnathan would most likely not survive to see his teenage years and it would be a horrible death. He would slowly lose everything; his ability to walk, talk, eat, have horrible seizures and ultimately pass. They cruelly call this illness "Childhood Alzheimer" because it robs children of everything. Our family and friends were devastated.
Now almost 4 years later we have HOPE. Unfortunately it has not come fast enough and we have watched too many children lose everything, including their lives. It has broken our hearts. Our NPD community is amazing and has become family. Every time we lose a child or a child is suffering, we all try to support one another. Without our NPD family we would be lost.
Our small community has raised tens of thousands of dollars and our children have donated blood for a cure. It has been more incredible than words.
As of today there is still no cure but they are getting closer to finding one. Johnathan has been on a non FDA approved medication that has helped slow down the progression. While Johnathan does show some signs of NPC, like an enlarged liver and spleen, and more recently some hearing loss as well learning disabilities, but we are so blessed that is all.
Recently we got the news amazing news that Johnathan has been accepted into a trial at the NIH in Maryland. While it is not a cure and it is in the beginning stages of its approval, we are praying it will help take the cholesterol out of the brain and help give us more time using a medication called Cyclodextrin.
Johnathan will be the youngest patient to be in the trial as of now. He will be getting Cyclodextrin injected it to his spinal cord through a spinal tap. We will be travelling to Maryland once a month for at least the next year (then we hope to get them done closer to home). Our first trip will last 2 weeks and then each month we will be there for one week of the month. While there are some risks, and Johnathan will have to have to be put through numerous tests MIR, hearing screenings, swallowing test, skin biopsys ,spinal taps, IV's, blood draws and go under anesthesia, but this is only way to save his life. He will also be helping other children in the future.
When we first found out about Johnathan’s illness, together with our family and amazing friends, we started “Johnathan’s Dreams.” Now his dreams might be coming true so support and awareness is critical. Prayers and positive thoughts are wanted!I will keep you all updated on Johnathan s Journey!!!!