If you haven’t signed up, the spots have gone very quick for the run. There are a few spots for the 10k and half marathon’s if that is what you are shooting for . A big thank you for everyone that has shown support thus far! We will be sending out an email within the next week on where to pick our shirt we will be giving you. As always… you still get all the fringe benefits from the great people in charge of the Hospital Hill Run!

Many Thanks!

Please consider a kind donation: Click Here

Related posts:

1. 2012 Hospital Hill Run (discount)
2. 37th Annual Hospital Hill Run

This special occasion will be held in Nashville, Tennessee on August 16-19th! More details will develop here in the upcoming future on “the skinny”.

Twenty years ago, there wasn’t much of anything to really help support families living and receiving the diagnosis of Niemann-Pick Disease. The information was scarce to say the least. Now looking forward, there is a wide range of available information that will help point families in the right direction.

Although there is no FDA approved cure or effective treatment at this time, having the support and a better understanding to what this disease causes for families does help in some way although the outcome is grim. Currently there are 400+ families including all three types of Niemann-Pick A, B, C that are apart of the disease community that benefit from the NNPDF’s comprehensive collection of information.

The Niemann-Pick Children’s Fund helps spread awareness, raise money for research, and provide an additional arm of support for families but also leverages existing channels to help give it a team effort. More Information

Related posts:

1. 2011 NNPDF Medical & Family Conference
2. NIH Clinical Trial of Cyclodextrin Update
3. Social Security Adds 38 New Medical Conditions that Qualify for Disability

A rare disease affects less than 1 in 2,000 people. Chances are, you know someone right now and you might not see them. There are more than 6,000 rare diseases. These loved ones, neighbors, strangers, and people on the opposite side of the earth face a different problem because they have challenges unrelenting. Sadly, they face the same problems. In total, there are hundres of millions of people around the world that are affected by one of those 6,000 rare diseases.

No one wakes up in the morning and says, “I want to have a rare disease today” but rather gets thrown into the “club” that no one wanted to join. So many families face struggles and burdens that are overwhelming. They deal with issues of getting health insurance companies to approve medications and treatments. They struggle financially to pay for these medications/ treatments and even have to some times quit work just to take care of their loved one. Has this been you? Do you know someone that you’ve seen this struggle take place? Why not lend them a hand and give them confidence that you can help in some little way?

The Niemann-Pick Children’s Fund was started because of one of those 6,000 rare diseases. It’s name is Niemann-Pick Type C. Our world changed on August 8, 2008 while everyone else in the world was watching the opening ceremonies of the Beijing Summer Olympics. The doctor answered when we asked, “what can we do”? After her long pause after looking at the ground, “you take them home and love them the best you can”. No parent who receives news like this deserves to have that experience! Granted, there is no cure or effective treatment at this time but just knowing that they will have a shortened life and superdad or supermom can’t fix it? blah.

Hug someone you love today. Hug someone who has a disability and look them in the eye and tell them that “they are loved”.

Check out this Facebook Page: Global Genes Project and Fund’s

If you are running in the 2012 Hospital Hill Run presented by Price Chopper here in Kansas City, check out our Facebook Page for a discount!

Related posts:

1. Not So Rare | Rare Disease Day February 28 2011
2. Your Vote Can Save Lives | Rare Disease
3. Why Rare Diseases OUR Important

Each and every holiday whether that is Christmas or Valentines day, we ought to seek out and remember the basic principles of each of those days. The “love” and “thanks” that is part of the root meaning should reminds us to tell our loved ones that we love them. Even if we dislike them at the moment, we should express the gratitude for them! (Easier said and done, huh?)

Something To Consider

Families that live with a rare disease like Niemann-Pick Type C understand the importance of cherishing everyday. Not to say that families who don’t have a Rare Disease like NPC don’t carry through with this notion but life puts things in perspective sometimes when these occurrences happen. We at the NPCF would like to say Thank you for all your support but more importantly remind you to simply give your loved one(s) a big ol’ hug and tell them you love them! You just don’t know how much time you have with someone.

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We are looking for participants for the UMKC School of Medicine 5k Run\ Walk, 10k Run\ Walk, or the Half Marathon for the NPCF. As a courtesy to those who will Run or Walk, we have the ability to offer 20% off your Race Day entry fee!

Niemann-Pick Type C Disease is a rare fatal neurological degenerative disorder that causes the inability for cells to metabolize cholesterol. Therefore it accumulates these fatty lipids in the brain, liver, and spleen causing a domino effect until ultimately it claims their lives. It currently affects less than a 100 people in the United States. Sometimes referred to as the “Childhood Alzheiemer’s”.

Benefits To You:

1. Get a Discount!
2. Get an additional shirt from us!
3. Help spread awareness!

Would you like to additionally raise money for our organization? Visit FirstGiving.org to start your own fundraising page!

Click on the button below and sign up to notify us that you want 20% off your race entry fee! Your code will be emailed to you along with a sign up link! (Hospital Hill has asked us to not publicly promote this discount code).

Additionally you may contact us at info@NPCFund.org for additional information! We will email you leading up to the race to inform you of any details!
Beginnes Info (new to this all!)
Training Advice
Training Program

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1. 37th Annual Hospital Hill Run
2. Vegas in Kansas City Casino Night Fundraiser 11-11-11
3. Vegas Casino Night Update

The NNPDF does a wonderful job of keeping families and people interested up to date on how things are progressing in the disease community for Niemann-Pick Type C. You can visit updates on their page here: http://www.nnpdf.org/aboutus_14.html

Cyclodextrin

A few families have taken a different approach in individually seeking the approval of the FDA to start an individual trial. Some of their hard work contributed in helping promote the upcoming Cyclodextrin trial.  Cyclodextrin could be one of many therapies needed in the future to help NPC patients manage the disease progression.

Letter From TRND

Dear families and friends of the NPC community,

The collaborative group planning a cyclodextrin clinical trial at the National Institutes of Health (NIH) for the treatment of Niemann-Pick type C (NPC) disease met with the Food and Drug Administration (FDA) on Tuesday, December 13, 2011 as a follow up to the recently held November pre-IND meeting.  On November 1, we met with the FDA Review Division staff to discuss the proposed development plan for cyclodextrin and needs for the IND application package.

Representatives from the Therapeutics for Rare and Neglected Diseases (TRND) group at the NIH, as well as several NPC researchers, Johnson & Johnson, and consultants from RRD International, LLC, participated in this meeting.

While the November meeting focused on the drug safety and toxicology data, the purpose of the December meeting was to discuss the proposed clinical trial design.  Overall, the feedback from FDA was very positive and their comments and guidance will assist us in the generation of an IND application that is agreeable to FDA, thus allowing us to move forward with the initial clinical trial as soon as possible.

Preclinical toxicology and safety studies in animals are ongoing, and additional studies will be initiated shortly.  These required nonclinical studies will guide the selection of drug doses for the initial trial and will provide essential safety information.   In the upcoming months, we will be evaluating these study results and will incorporate them into the  IND application and initial clinical protocol, which will then be submitted to FDA and the NIH Institutional Review Board (IRB).  Once we have agreement from FDA and approval from the NIH IRB, we can share the specific details of the initial clinical trial, such as patient inclusion/exclusion criteria.

We are very excited about the progress we have made thus far and are encouraged by our recent meetings with FDA.  We understand that the community is eager to start this initial trial as soon as possible and we do not have time to waste.  Following the meeting, we believe that FDA shares our sense of urgency and we are grateful that they are willing to work closely with us to get this important initial trial started.  As always, your support of NPC research is the final piece that will help us impact this disease.  Thank you for your enthusiasm, your patience, and especially for trusting that we are making every effort to help individuals and families affected by NPC.

The TRND Team

Press Release:

NIH Therapeutics for Rare and Neglected Diseases Program announces next round of drug development projects

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1. Orphan Drug Designation for Cyclodextrin | NPC
2. Vegas Casino Night Update
3. Gene Therapy Halts Brain Disease in Two Boys

View Photo Gallery

NBC Action News and Christina Medina were so very kind to come out to share a bit of our story with Kansas City. You can find the link below:

Grain Valley family fights to find a cure for rare disease

Matthew Lesko was a big hit and everyone loved his smiling personality! We appreciate you coming out Matthew!

Thank you to each and everyone of you for supporting us and our event whether that was donating an item, your time, or even just donating monetarily.

See you next time!

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1. Matthew Lesko in Town For Vegas Casino Night
2. Vegas in Kansas City Casino Night Fundraiser 11-11-11
3. 37th Annual Hospital Hill Run

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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The money raised from the Casino Night will help further the fight against a horrible fatal disease called Niemann-Pick Type C.  NPC is the cells inability to metabolize cholesterol that stores fatty lipids in the brain, liver, spleen, and bone marrow causing a domino effect of neurological problems that lead ultimately to their untimely death.  No cure. It’s a 100% FATAL.

With less than 50-75 cases currently in the United States, statistics state that there has only been 500 cases diagnosed worldwide EVER!

The importance of educating and creating awareness as much as possible is the insight it can bring to more common disorders like Stroke, Adult Onset Alzheimer’s, Atherosclerosis, and even HIV/Aids. Each of these disorders has a problem with cholesterol. We all know someone that has been affected by this haven’t you?

Tickets are for sell online at www.NPCFund.org/VegasNight. We have several options. General admission is $25. You get entry into the fundraiser, 1 drink ticket, 1 raffle ticket, and a 5,000 chip voucher to start having fun!  Tickets and sponsorships go up to $250 with different options.

You should expect at the event:

• Blackjack, Poker, Texas Holdem, Craps, Roulette, and a Money Wheel (Sponsored by FUN Midwest)
• Black tie affair (Over 21 yrs of age only)
• Hor d’ourves (Some nice stuff)
• DJ / Emcee (Bryan Truta – morning DJ on 105.1 JACK FM)
• Prizes, Raffles, and Silent Auction Items

Niemann-Pick Children’s Fund Inc. is a Missouri 501(c)3 non-profit EIN 80-0317862. Your donations are tax deductible under the IRS tax code. Please consult with a tax preparer to determine the eligibility.

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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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