Chase The Cure
The Reedy-DiGiovanni Family
Cumberland, RI 02864
shannon
Chase the Cure Inc: The Mission
After a two year journey, 3 year old Chase Owen DiGiovanni received a diagnosis that changed everything. Our mission is simple, Chase the Cure for Niemann-Pick C Disease until we catch it. This happy, loved little boy has a family that is focused on one thing only and we need all of you to help us fund research and experimental treatments to help Chase. Researchers are getting closer but NPC still has the lead. Join us please.
Thank you,
Chase Owen DiGiovanni,
His Family & his large network of friends.
What is Niemann-Pick C or Childhood Alzheimer's?
NPC is a Lysosomal Storage Disease with no approved treatment, it is fatal.
Children who have Niemann Pick Type C (NPC) inherit it from their parents. Each parent has to carry the gene. It is rare,
right now there are about 500 children with it in the developed world. The Chromosome that is responsible for teaching
cells how to recycle cholesterol and lipids that the body makes gives the cells misinformation. The lipds and cholesterol
get stuck in the cells and attack the spleen, liver and lungs. Cells accumulate all over the body and eventually attack the
nervous system.
This disease usually has a delayed diagnosis. Parents begin to notice children getting clumsy, losing speech or
not hitting milestones. Some are born with large livers and spleens but the diagnosis is missed, like Chase.
If onset is slower the kids will have behavioral problems and repeat grades. Some may never learn to speak or walk,
Chase only had a few words before his onset.
As the disease progresses these children are too weak to stand and need wheelchairs or are bedridden. Many begin
to choke on food or their own saliva and require feed tubes and trachs. They lose touch with their surroundings and
have difficulty recognizing loved ones. It is most often respiratory infections that take their young lives.
Search Words: Niemann Pick, Type C
We have hope for Chase in the form of a drug we have been infusing under an Individual Patient Trial! Want to know what a bunch of medical - types and institutions think about Cyclodextrin use? You could click the molecular sugar ring below and check it out!
PHOTO TAKEN AT BOSTON CHILDRENS, 11SOUTH MLB UMPIRES VISITED ON 5/29/12 AND BROUGHT BEARS! |
Help raise funds to help get treatments out of the lab and into our children.
Thank you!
Click this Icon to hear Dr. Forbes Denny Porter talk about Niemann Pick C and its potential for therapies. A trial using HpBCD, the orphan drug Chase is on under a compassionate use protocol, launched at the National Institute of Health in January 2013. Nine Children, with a minimum age of 7 have been selected for Phase 1. If the trial is successful over the next several years and efficacy of HpBCD proven then the treatment will be accessible to far more patients. In May of 2013 the NIH put the trial on hold citing the FDAs need for more safety information to move from an Ommaya Port Delivery method to Interthecal Delivery. The first cohort of patients (a group of 3) had infections or suspicion of infections and an adverse event occured in Cassidy Hempel as well, outside of the NIH trial. These events had nothing to do with the safety of the drug. At the NIH contamination from bacteria was suspected. In Cassidy a reaction that occurs in approximately 13% of Ommaya Port Cases happened
Copyright 2013 Chase The Cure, Inc. All rights reserved. Our Foundation is a Non Profit Organization operating under an organizing document in the State of Vermont, USA
The Reedy-DiGiovanni Family
Cumberland, RI 02864
shannon
