Passion To Help

For well over 30 years, Matthew has been on a quest to educate the public. At times we may think he is over the top but he has went up and beyond what most of us would do to fulfill not only our passion but to get people to notice him. I have to say that is admiring. We face the same challenge with a disease like Niemann-Pick Type C. It is rare and not a lot of people are aware. So we need to bring awareness to the matter to further educate about this rare disease that could open the doors to other well known diseases that plague our society. Our Vegas Casino Night is one of our attempts to draw the Kansas City community into a night of fun but equally important generating knowledge to the public.

Matthew will be presenting attendees with his American Benefit Plan (Value of $350) as a courtesy gift. He truly likes to give back.

What is Niemann-Pick Type C?

Niemann-Pick Type C is a genetic disorder that affects the cells ability to metabolize cholesterol. It is extremely rare and consequently always fatal. Although the age of death varies, it generally strikes in adolescents and childhood. To learn more visit here: About Niemann-Pick Type C

PR release by Evans Media Group: http://www.npcfund.org/LeskoInTown

More Lesko: http://www.Lesko.com or http://questionmarkguy.blogspot.com/
Brisan and Parker: http://www.BriParDun.com

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Gavin and His Mother’s Heartbreaking Story

Kristen and Fernando Lopez have 3 children from Little Elm, Texas. Gavin there oldest son has Niemann-Pick Type C disease. Recently they were on the TV show The Doctors talking about their guilt about having a child with Niemann-Pick Type C. This is very normal to have these feelings because we as parents love our children so much that we want to fix them even with a rare disease. The show was focusing around Overcoming Guilt.

Gavin was a healthy baby boy and by the age of 2 he started having issues with his speech, muscle’s going limp, and worrisome changes that had them concerned. For about a year they searched on what may be the reasoning behind it all. Kristin came across The Doctor’s TV show about Addi & Cassi Hempel who also has Niemann-Pick Type C disease. She felt that this was exactly the diagnosis she was seeking. After several tests and the whole process it was confirmed…Niemann-Pick Type C disease. For many this is a death sentence that no parent wants to here. Learn more by clicking here about Niemann-Pick Type C disease.

Here is the intro about the Lopez’s story:

How Niemann-Pick Disease Type C Affects the Body

E.R. physician Dr. Travis Stork explains how Niemann-Pick Type C affects the body.

Words of Hope for Niemann-Pick Type C Patients

Chris Hempel sharing words of hope for all patients and family currently coping with Niemann-Pick Type C.

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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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It has been almost 13 years in July 2010 that the NPC1 gene, on Chromosome 18 for Niemann-Pick Type C was shared with the world on its discovery. This was a huge step and monumental discovery with associating cholesterol with a certain gene/chromosome at that time. To arrive at this point, it took decades of work which shed an abundant light into how a cell metabolizes cholesterol. In short, Niemann-Pick Type C causes progressive deterioration of the nervous system by blocking the movement of cholesterol within cells.

From a press release dated July 10, 1997 from Bethesda, MD:

“This discovery is an excellent example of how research on rare brain disorders often pays off in other ways,” says Zach W. Hall, Ph.D., Director of the National Institute of Neurological Disorders and Stroke (NINDS). “By identifying this gene, we not only take a crucial step forward in understanding this devastating disorder, but also gain insights into problems that affect every one of us.”

In 2001, cardiovascular disease was responsible for more than 39 percent of all deaths in the United States (American Heart Association: Heart Disease and Stroke Statistics 2004). Atherosclerosis is a disease where plaque builds up in your arteries. We all know those aren’t important to our lively hood at all. OK, just joking but plaque is made up of fat, calcium, cholesterol, and other substances found in our blood that over time builds up but hardens in the passage ways of our arteries. Imagine if you’re driving through a two way tunnel but one side is now closed off?  It would be kind of hard to get through to the other side in a timely and relaxing manor with additional objects in your way? Just like that situation, this affects how we get our blood to important areas in our bodies. With millions of people dying each year, this is a huge number of people. What if Niemann-Pick Type C could provide some insight?

Other diseases such as Adult onset Alzheimer’s, Stroke, Cystic Fibrosis, Duchenne Muscular Dystrophy, and even HIV-Aids will benefit from the research into Niemann-Pick Type C. Did you know that children can experience dementia to? Crazy to imagine because most of us think that only our elderly family members get that! With the combination of deaths due to these diseases, could you imagine if we had a more collaborative research environment? Unfortunately big companies aren’t going to sacrifice revenue opportunities to help a blip on the radar screen but they will invest if they see it helping thousands of people; this means a return on their investment. This reality is sad but true.

Rare diseases OUR important to you, me, and everyone we know. Each of us has a Chromosome 18 that is vital to us being a living human being.  I encourage you to help out in some way. That could be donating to several charities that fund research for NPC like the National Niemann Pick Disease Foundation, Ara Parseghian Medical Research Foundation, Hide and Seek Foundation or the Niemann-Pick Children’s Fund. That could be becoming and advocate in lobbying our government for better health care. It could be you just passing the word and spreading awareness.

We all are in this together and have been affected in some way by one of the diseases mentioned in this post. One person can make a difference in the world and that person could be you.

Additional Resources:

• http://www.lef.org/protocols/heart_circulatory/coronary_artery_disease_atherosclerosis_01.htm
• http://www.ninds.nih.gov/news_and_events/news_articles/pressrelease_fatal_childhood_niemannpicktypec_071097.htm
• http://www.strokecenter.org/patients/stats.htm
• http://www.ninds.nih.gov/news_and_events/news_articles/pressrelease_fatal_childhood_niemannpicktypec_071097.htm
• http://www.cdc.gov/nchs/FASTATS/deaths.htm

*All pictures belong to their respective parties.

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