Chase The Cure
The Reedy-DiGiovanni Family
Colchester , VT 05446
COD82109
Niemann Pick Type C impacts more families than you may think.
This disease has been called Childhood Alzheimers, it has parallels with Adult Alzheimers & Parkinsons. Research on the NPC1 gene impact diseases like HIV! Look for brand new links and every paper out there, coming soon. We all have a lot to talk about!
Chase the Cure Inc: The Mission
After a two year journey, 2 year old Chase Owen DiGiovanni has received a diagnosis that has 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,
C.O.D,
Ray ( Dad,) Shannon (Mom,) Cameron (Brother ) & Donna ( Grammy)
Alert! Fundraiser for Chase at Lincoln Woods
BBQ Cookout on June 2nd 2012.
See the fundraiser tab for details
Chase the Cure Inc: The Status Report 3.12
We are 90 days into an individual investigational drug trial infusing HpBCD under a compassionate use protocol approved by the FDA. Our hero is measurably happier and well adjusted. For approximately 72 hours post infusion his energy level increases dramatically. Post Infusion he chews and swallows with ease. Until beginning the infusions , Chase at 2yrs 5mos was only able to consume pureed foods. Wednesdays are now pizza nights, he prefers dunking the crust in sauce. He is able to stand well with his braces on at his toys and walk down our hall holding onto someone's hands. The dose escalation is mercilessly slow for us as we see the changes happening first hand. We will soon be batching samples taken at Chase's infusions so we can get evidence to prove his treatments are working.
Status Update:
May 21, 2012
Little Chase hasn't been feeling well lately. He has spent most of the past thirty days in the hospital battling pancytopenia and a very uncomfortable enlarged spleen. Our little guy is immuno-compromised and catches everything. Extensive testing by physicians eager to get to the bottom of what ails him have uncovered antibodies proving he has caught certain viruses since birth. He is presently battling Norovirus.
His blood counts are beginning to stabalize and improve. Our next step is to get him back on his Cylodextrin infusions, which he has not had since April 9th. His ataxia and dystonia have gone from arrested to present again and he is uncomfortable. He is starting to smile again though!
5/25/12
We are hopeful Chase will be able to be transfered home to VT for a couple days in the hospital there by the beginning of next week. He has a NJ tube placed for additional feedings right now to help him put back some of the weight he has lost with two back to back viruses. He's expressed his displeasure with the tube taped to his cheek by yanking it out once already. Chase is eating very well on his own so we are rooting for him to put back the 1lb and a half he lost plus a few more to help him be stronger. Unfortunately Chase's visitors and outings will be limited for quite some time to come.
What is Niemann-Pick C?
NPC is a Lysosomal Storage Disease with approximately 500 reported cases at this time, it is presently a fatal disorder.
This autosomally recessive genetic disorder causes progressive deterioration of the nervous system. It typically affects children by interfering with their ability to metabolize cholesterol. Adult onset can also occur but tends to progress far more slowly. Cholesterol accumulates in the liver, spleen, and brain. Presently Niemann Pick C is a fatal metabolic disorder. To help put it in persepective, its also referred to as Childhood Alzheimers.
Niemann Pick has varying degrees of progression and varying ages of onset. The time the children have to enjoy life seems to correlate to the age of onset. The younger the children are when symptoms become apparent the faster the disease seems to move.
Here are typical NPC symtoms (courtesy of Actelion Pharmeceuticals) :
 | Clumsiness and gait disturbance progressing to obvious ataxia |
| Vertical supranuclear gaze palsy (VSGP) is a common early, and disease defining, neurological symptom |
| Gelastic cataplexy in up to 50% of children |
| Partial/generalized seizures in 33-54% of children |
| Dystonia, eventually involving all limbs and axial muscles |
| Progressive dysphagia and dysarthria - speech and swallowing are progressively affected, and oral feeding eventually becomes impossible |
| Progressive and insidious cognitive decline, and behavioral problems
|
Help spread awareness and raise funds to help get treatments out of the lab and into our children. Donate to Niemann Pick C research by clicking here or going to our donations page. Thank you!
Want to know what a bunch of medical - types and institutions think about Cyclodextrin use? You could click the ring below and check it out!
Passing of a Princess
Monica Tallifer, beloved daughter of Heather and Simon Tallifer of Canada passed away Wednesday May 2nd at home. Monica is one of those amazing miracles you hear about from time to time. She was not expected to survive long after birth due to extensive liver disease associated with her Niemann Pick C diagnosis. Here, with her family, she would have been 33 months old this month. Her mom baked her an amazing cake to celebrate each month she spent with them. Monica lived a very happy life- read more here
In lieu of flowers Monica's Mommy and Daddy ask you to send teddy bears so that they can be donated to the Shawinigan Hospital where Monica went weekly for her care. The teddy bears can then be distributed to newborns or sick children with a message attached to them "You have an angel princess named Monica watching over you"
Bears can be mailed to:
Princess Monica Taillefer
841 2E Avenue
Grand-Mere, Quebec
G9T 2X4
Copyright 2012 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
Colchester , VT 05446
COD82109
