Below you can view our letter informing the public on the event or also print the order form if not ordering via www.NPCFund.org/MidwestClassic-Tickets
Midwest Classic Ticket Sales Aug 15-21 2011

Order Form | Midwest Classic Golf Tournament

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Niemann-Pick Type C is essentially a generic flaw keeping lipids trapped in the cell and prevents cells from using the lipids appropriately. The destruction of brian cells, which is the most crucial area, typically kills the affected individuals by their teenage years. NPC strikes approximately one in every 150,000 births. NPC is a genetic inherited neurological disorder that involves the lack of cholesterol metabolism within the cells.

A recent claim published by Olaf Wiest and Paul Helquist of the Univeristy of Norte Damn and Frederick Maxfield of Cornell University says that a histone deacetylase inhibitor (HDAC) corrects the damage done by NPC and allows the previous diseased cells to function normally.

This obviously would appear like wonderful news except we have to remember not to jump to premature conclusions drawn from this press release. This whole disease and finding a suitable treatment is so complicated. There have been many times in the past that something in the lab has shown to cure NPC but only to later show that it wasn’t feasible in actual humans or animal studies.

One of the leading Niemann-Pick Type C experts Marc C. Patterson, M.D., Chair of the Division of Child and Adolescent Neurology at Mayo Clinic, also a member of the NNPDF’s SAB, urged caution on premature assumptions:

The work was done in cultured fibroblasts, so one should be very cautious about extrapolating these data to animals or humans.  Moreover, the work was done in cells expressing one or two I1061T NPC1 mutations, and may not be relevant to other mutations; it was not effective in an NPC2 mutant cell line.  Of note, the late Dick Pagano showed dramatic reversal of trafficking abnormalities and filipin staining in NPC fibroblasts in which rab 7 and 9 were overexpressed, but much more modest results in transgenic mice with NPC1 mutations and rab overexpression.

Mouse studies could certainly be justified, but it would be premature to assume that this approach will be applicable in humans with NPC.

If there was ever a time to have a child or loved one with Niemann-Pick Type C, it would be in our current timeline. Research is making head way but that head way has to be weighed by the fact that in research time it might be moving fast but to parents that timeline will never be fast enough to help their dying children now.

To view more detailed information about this press release and feedback: http://www.nnpdf.org/npdisease_14.html#ValproicAcid

Photo used under Creative Commons from jepoirrier.

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Michael and Jennifer Stults who’s two eldest son’s Brisan and Parker were diagnosed with this rare neurodegenerative disease in August/September 2008 after years of aggravating doctor’s visits trying to understand what is wrong with their children, organized the Niemann-Pick Children’s Fund, Inc. The concept was simple, how do they do their part and help fight this monster of a disease? How do they give back? With like minded individuals and close friends they formed NPCF to bring hope and opportunity to families that uniquely understand these pressures that burden their lives every day.

To read more: http://www.npcfund.org/about-us.html

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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]

Incidence (annual) of Rare diseases: Less than 200,000 people in the USA by the definition of “rare disease” (in many cases much less)

Incidence Rate: approx 1 in 1,359 or 0.07% or 200,000 people in USA [about data]

Incidence extrapolations for USA for Rare diseases: 200,000 per year, 16,666 per month, 3,846 per week, 547 per day, 22 per hour, 0 per minute, 0 per second. Note: this extrapolation calculation uses the incidence statistic: Less than 200,000 people in the USA by the definition of “rare disease” (in many cases much less)

Read more at http://www.wrongdiagnosis.com/r/rare_diseases/stats.htm?ktrack=kcplink

This years focus for 2011 (http://www.rarediseaseday.org) is “Rare but Equal”. Here is more:

This year, EURORDIS member national alliances in 22 countries are combining their efforts to put the spotlight on “Rare Diseases and Health Inequalities.”

More specifically, in 2011, Rare Disease Day will seek to draw attention to the:

• Gaps in health that exist for rare disease patients between and within countries in the EU
• Gaps in health that exist for rare disease patients compared to other segments of society

The campaign will serve to advocate for:

• Equal access for rare disease patients to health care and social services
• Equal access to basic social rights: health, education, employment, housing
• Equal access to orphan drugs and treatments

To learn more about how to get involved please visit Rare Disease Day 2011 website.  Below is a featured video on Rare Disease Day’s YouTube channel featuring video of families suffering from Battens Disease.

[ To view: http://www.youtube.com/watch?v=AZa8kw3AHz4]

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To read more posts: http://bit.ly/NPCF_Blog

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Having a horrible disease such as Niemann-Pick Disease, families are limited with the amount of time they have with each loved one. Now this can vary between Types A, B, C/D but the overall feeling is you as a loving parent would like to capture memories that can last forever. The reason we will take applications is we will be giving each applicant (we are still determining how many Flip’s we will give away) the Flip Camcorder to record their memories. In exchange for the Flip Camcorder we will ask that you share some video/ pictures with us for our awareness projects for Niemann-Pick Disease.

The Niemann-Pick Children’s Fund’s whole goal besides helping raise money for research and etc is to bring awareness to this rare fatal disease. One of our recent videos we put together netted us from social sharing online a large donation. We hope over the course of the year coupled with several video projects that we can help bring money into the disease to be used effectively. We are all in this together no matter what the name of the organization is.

If you are a parent of an affected individual please contact us at info @ npcfund . org. We will be working on completing the application form online shortly.

Check out our resources page for additional websites regarding Niemann-Pick Disease. Go here for additional information about Niemann-Pick Type C disease.

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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.

———————————————————————————————————————————

NNPDF COLLABORATIVE STUDY – KAREN QUANDT, RN, MN

Neurodegenerative Disease in Family Members of Patients with Niemann-Pick Type C

Final Progress Report – Lay Summary

Thank you to all the families that participated in my recent research survey. Thanks also go to the National Niemann-Pick Disease Foundation, The Niemann-Pick Disease Group of the United Kingdom and to the Ara Parseghian Medical Research Foundation, all of whom assisted with this survey. Today I closed the survey titled, “Neurodegenerative Disease in Family Members of Patients with Niemann-Pick Type C”.

Here is a summary of the results:

• 57 families answered the survey
• 29 families had a family member with another neurodegenerative disease- 50.9%
• 28 families did not have a family member with another neurodegenerative disease – 49.1%
• Summary of other neurodegenerative diseases that the families have in their health history:
• 17 cases of Alzheimer disease- in 14 different families
• 8 cases of Amyotrophic lateral sclerosis-(Lou Gehrig’s disease) – In 6 different families
• 8 cases of Parkinson disease
• 4 cases of Multiple Sclerosis – in 3 different families
• 2 cases of Huntington Disease- in the same family
• 1 case of Multiple System Atrophy
• Several families had 2 different neurodegenerative diseases in their family health history.

I discussed the findings of my recent Niemann-Pick type C (NP-C) family health history survey of neurodegenerative diseases with Dr. Ellen Sidransky and Joie Davis, nurse practitioner, both of whom work at the National Institutes of Health.

Dr. Sidransky and Joie are interested in investigating the possible association of Parkinson’s disease, ALS (Lou Gehrig Disease) and Alzheimer’s disease (diagnosed before the age of 65), present in the families who also have a relative with NP-C.

Thank you,

Karen Quandt, RN,MN

http://www.nnpdf.org/familyservices_15.html

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Niemann-Pick Type C disease (NPC) doesn’t send Christmas cards, celebrate birthdays, love you unconditionally nor does it bother to hold back in it’s relentless attack on the bodies neurological mainframe. Can affected individuals live past their teenage years? Well sure…anything is possible. The cold truth is the earlier neurological symptoms present and accelerate, the increased likely hood that patients will have a shorten outcome of life. Very sad realization to come to. No survivor stories yet; it’s fatal. Your help could change that.

[ Video link: http://bit.ly/egmBKX ]

As your watching the video please think of creative ways you can help spread the message. It might not be monetarily but it could be through other random acts of kindness. Keep in mind that Niemann-Pick Type C holds a lot of valuable information that could unlock doors to other common diseases that are cholesterol related.

Thank you for taking time to read this post and watching our video.

You can find us on Facebook: Niemann-Pick Children’s Fund

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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.

Several times the comparison has been presented to us for Von Willebrand Disease but every test comes back negative or inconclusive. Thus far it is being treated as an undiagnosed Platelet Dysfunction Disorder. One drug that they inject intravenous is Desmopressin also known as DDVAP. It’s original purpose is to help people who have issues bed wetting. What they discovered was it helped temporarily boost the Von Willebrand factor in the blood.

Here is a quick video from the infusions on Thanksgiving 11-25-2010. Unfortunately our last infusion is 11-29-2010 due to one of the two manufacturers closing their plant down. So this creates a shortage and is on indefinite hold until. We are currently in “limbo” on what other options that exist. So far DDVAP was the only one that worked efficiently.

Desmopressin (DDVAP) Infusions | Niemann-Pick Type C | Brisan & Parker Stults from Michael Stults on Vimeo.

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On July 30th I received an email back:

“Your story would be great for this. It’s unfortunate, and I’d hope that in telling the story there’d be some uplifting successes along the way, but it would certainly be a good cause for raising awareness. Basically this program is all about showing people doing good things, inspiring things, ambitious things…and how Palm can help do more by being better connected.”

We were elated that we had this opportunity! In conjunction we started our Facebook Page for the NPCF. We already had a “Cause” page but Palm wanted us to have more of a hub for information and sharing. You can visit our Facebook Page here and Like it : Niemann-Pick Children’s Fund.

Niemann-Pick Type C Disease is a rare neurological disease that affects very few. Maybe 75 in the United States currently. To put  into perspective there are well over 300 million people here in the United States. To say this disease is “rare” is an under statment.

With no cure or effective treatment as of today, this disease will claim the lives of mainly children and a handful of young adults. NPC stems from chromosome 18 where each patient has two mutated genes. One inherited from each parent. Those chances are one out of four with each pregnancy. Most carries of this gene are unaware and most medical professionals are equally unaware because of the “rareness” of NPC.

The core issue is the cells inability to metabolize cholesterol. To put it simply, something in the “recycling factory” of the cell malfunctions.  This is the good cholesterol your body needs to live. It is essential to everyone reading this post. You and I have the same gene (maybe not mutated).

Through this experience we will be sharing photos, videos, links, and posts with our Palm Phones. Our overall goal is to raise awareness. October is Niemann-Pick Disease Awareness month.

Read the full article here:  Palm Gives 500 Pre Plus Phones to Good Causes

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