Niemann-Pick Disease Conference
On July 28th-30st the National Niemann-Pick Disease Foundation held their 19th annual Medical & Family Conference. It was a place where families who didn’t sign up to be in “the club” of Niemann-Pick Disease Types A, B, C gathered to connect with families and meet the some of the researchers involved in finding a potential cure. The conference was held in the great area of Norfolk, VA right on the bay!
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Rare Disease Day 2011
Definition of Rare Disease: “A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.” (wikipedia)
After all why would we refer to “rare disease” as rare when in fact we all are affected by disease? At some point in our life we have heard of someone or even have known a person who has suffered with a rare disease. To put into perspective what a rare disease means here are some statistics from WrongDiagnosis.com:
Prevalance of Rare diseases: about 25 million Americans (ORD); each disease less than 200,000 Americans by definition.
Prevalance Rate: approx 1 in 10 or 9.19% or 25 million people in USA [about data]
Karen Quandt is the Board Chair for the NNPDF.org. A few years back she was completing a study about neurodegenerative disease in family members of patients with Niemann-Pick Type C (NPC). There differently is a relationship between NPC and other diseases. At this given time ,the current discoveries that scientists are making to further develop treatments for NPC are providing critical insights into our understanding relating to a few of the most common diseases that have been shown to be debilitating to life.
Thank you Karen for allowing us to share.
We have put together a short video of Brisan and Parker Stults to help raise awareness through social media outlets. The upcoming 2011 year should bring hopefully other insightful videos that can be shared with our friends, family, coworkers, and complete strangers. The whole object with any rare disease is to explain a message in the shortest amount of time to help create emotion. We all act upon our emotions and that has done an incredible amount of good in our society.
Brisan and Parker Stults are our two eldest sons’. In combination with Niemann-Pick Type C disease they also have an underlying Platelet Dysfunction Disorder that when they bleed they have a severe delayed clotting time. Essentially the clot won’t stick and creates a very time consuming situation to control. Typically in Niemann-Pick Type C (NPC) patients bleeding isn’t associated with the disease in this regard. It has been brought up as a concern with a handful of other affected families.
For Brisan and Parker the understanding is NPC is not the complete picture of the issue but is something additional that they have. Although patients with NPC suffer a great deal of loss and affects everything most people take for granted, they can still have additional issues on top of NPC.
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