The Niemann-Pick Children’s Fund is proud to announce it’s participation in the 40th annual Hospital Hill Run in downtown Kansas City, Missouri as a Sliver Charity Partner! HHR has been giving local charities opportunities over the last handful of years to use this stage that is expecting over 9,000 – 10,000 participants on June 1, 2013.

Race Starts in….

Race is Officially SOLD OUT

Hospital Hill Run is the oldest road race in Kansas City and one of the oldest run half marathons in the country. First held in 1974 with a field of 99 runners, Hospital Hill Run grew in size and stature in the ensuing years recently being named one of the top races in the country by Runner’s World magazine. In 2012 Hospital Hill Run hosted its largest field for the fifth consecutive year.

Our first year was 2012 as a Bronze Charity Partner. We primarily participated for the opportunity to raise awareness about Niemann-Pick Type C disease or Niemann-Pick disease in general. We lived and learned the “ins and outs” of the opportunity last year and with the help of the great staff of the HHR team, we have some great things planned for 6-1-2013. We know what to expect now from the event on race day. In total we had 33 runners sign up through our Non-Profit last year who all received 20% discount off their registration at signup. We gratefully thank each one of them! We hope that each one of them would be willing to show their support again this year by helping us raise awareness and a money for research.

2013 Goals

Our goals for 2013 for the Hospital Hill Run is to reach a minium of  50 runners, walkers or volunteers in any combination to support the bigger mission in helping us raise a minimum of $3,000. Each runner or walker will have a task that we will ask them to generously help raise funds.The HHR event only allows us a platform to raise money and awareness. The HHR does not give any proceedings back to the participating Non-Profits but they do give us the opportunity to come up with some strategic placements to help in facilitating those goals.

Benefit For You

We will be offering a variety of “items” to help motivate you in exchange for providing a 20% off discount code. We would like to also focus on “kids” of the day of the event as well with activities on race day. Since our kiddos “only have a childhood to live a lifetime” we thought this would be really awesome.

• Receive 20% off your 5k, 10k, and half-marathon race entry fee
• If you don’t run or walk… You can always help volunteer!
• Support a local cause. It’s a Fatal disease.
• Help us raise awareness in your circle of influence
• Help us raise money towards research on “Childhood Alzheimer’s” (NPC)
• Give more meaning to why you want to participate.

The “Childhood Alzheimer’s”

Niemann-Pick Type C Disease is classified as FATAL with no viable treatment or cure on the market as of this post. The outcome is not so pleasant for the ones involved. More importantly it is rare with only 500 cases diagnosed worldwide EVER! Less than a 100 patients currently in the United States.

Niemann-Pick Disease has generally 3 types… A, B, C. Each of them has a different circumstance on “how it happens” genetically but all are under the same Lysosomal Storage Disorder umbrella.

Race Schedule (before discount)

• Niemann-Pick Type C

• Niemann-Pick Type A & B

**Disclaimer

Niemann-Pick Children’s Fund, Inc has the right to monitor and control the use of their special discount code assigned by the Hospital Hill Run. The neglect and misuse of our discount code is strictly prohibited. The Hospital Hill Run has the right to refuse your entry if this is suspected. Basically, do the right thing and show a little support for your local charity partners. Hospital Hill Run does not provide financial support but only a platform to help raise awareness and fundraising.

We wanted to wish everyone a fantastic celebration of holidays at this time of the year! 2013 is just right around the corner and for many in the rare disease community they are reminded that hope and time may not be on their side. Take extra time in the upcoming days and spend that quality time with your loved ones!

We’ll see you on the flip side in 2013! Thank  you for all your support!

Can you believe it….it is already October!?!? This year marks 20 years and counting of the NNPDF making strides in our rare disease community towards a common goal. We have to remain thankful for those families who early on came together to get this off the ground!

Every year October is set aside as the National Niemann-Pick Disease Awareness Month. Many families in and outside of the disease community, focus on raising valuable dollars used towards the goals of the NNPDF to find a cure for Niemann-Pick Disease.

“Most of the important things in the world have been accomplished by people who have kept on trying when there seemed to be no hope at all.”

Dale Carnegie

I am glad you asked… here are some ideas on how you can help us!

Top 5 Easy Ideas:

These ideas are simple and quick ways to raise awareness of Niemann-Pick Disease and to start a conversation with those who may have never heard of it before.

1. Use the NNPDF’s 20th Anniversary logo on your email signature, your Facebook page, your blog, etc. JPG

2. Distribute PERSEVERE wristbands to 20 friends, family members and co-workers. Order form

3. Purchase a PERSEVERE window decal and display it on your vehicle. www.etsy.com/shop/victorydecals

4. Hand out NNPDF brochures to 20 people who have never heard of the disease before. NPC   ASMD Order form

5. Display a poster about Niemann-Pick Disease at your workplace, church or organization’s meeting room. Order form w/pics

Gregory Crawford

Dean Greg Crawford is an amazing individual. If you asked if he felt amazing about what he does for the Niemann-Pick Community, he’d possibly beg to differ because of his humble attitude. Over this summer, Greg has ventured on a coast to coast tour to help raise money for Niemann-Pick Type C for research.

A more official intro, Gregory P. Crawford is the dean of the College of Science at the University of Notre Dame. For the third consecutive year, he set out on a remarkable bicycle ride this past summer to support research seeking treatments and a cure for Niemann-Pick Type C (NPC). NPC is a rare and deadly neurodegenerative disease that primarily strikes children before or during adolescence.

A few weeks back, I had the pleasure of speaking with Greg more about his journey and to also share a little bit about our family. Greg felt a calling to get involved but wasn’t for sure what he could contribute. Since he was good at biking, he choose that as a means to create awareness and fundraising to achieve a bigger goal.

Here was his rigorous schedule:

Date Arriving

5/21/2012 From Boston, MA to Sturbridge, MA (75 miles)

5/22/2012 Lakeville, CT (100 miles)

5/23/2012 Walton, NY (130 miles)

5/24/2012 Corning, NY (125 miles)

5/25/2012 Salamanca NY (105 miles)

5/26/2012 Meadville, PA (100 miles)

5/27/2012 Elyra, OH (100 miles)

5/28/2012 Bowling Green, OH/Montpelier, OH (100 miles)

5/29/2012 Granger, IN (95 miles)

5/30/2012 Matteson, IL (100 miles)

5/31/2012 Mendota, IL (100 miles)

6/1/2012 Davenport, IA (85 miles)

6/2/2012 Oscaloosa, IA (125 miles)

6/3/2012 Creston, IA (110 miles)

6/4/2012 Bellevue, NE (96 miles)

6/5/2012 York, NE (110 miles)

6/6/2012 Holdredge, NE (120 miles)

6/7/2012 McCook, NE (80 miles)

6/8/2012 Yuma, CO (100 miles)

6/9/2012 Byers, CO/Denver,CO (100 miles)

6/10/2012 Denver, CO – ND Club Tour

6/11/2012 Granby, CO (95 miles)

6/12/2012 Craig, CO (120 miles)

6/13/2012 Rangely, CO (90 miles)

6/14/2012 Altamont, UT (95 miles)

6/15/2012 Park City, UT (90 miles)

6/16/2012 Wendover, NV (160 miles)

6/17/2012 Ely, NV (120 miles)

6/18/2012 Fallon, NV (100 miles)

6/19/2012 South Lake Tahoe, NV (100 miles)

6/20/2012 Elk Grove, CA (100 miles)

6/21/2012 Livermore, CA (100 miles)

6/22/2012 Monterey/Pebble Beach CA (100 miles)

More importantly than Greg’s cross country journey to help give back to help fight Niemann-Pick, is Greg’s compassion for the situation and the time he took with multiple families. Greg stated he found these three things in common:

• Passion for their kids
• Not Angry about the situation and having lots of faith
• Can never pretend you know what it really is like to have a rare disease like NPC if you’re not in that parents shoes.

Here is a picture of some of the inspirational wristbands Greg wears to remind him of what he and others are fighting for. Thank you Greg for taking time to speak with us!

Hello everyone! Tomorrow will be the last day that the Niemann-Pick Children’s Fund can offer the 20% discount code for the 39th annual Price Chopper Hospital Hill Run. In preparation in ordering your shirts, we need to make this the final day.

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

This year is the National Niemann-Pick Disease Foundation’s 20th year of providing services to families affected by Niemann-Pick Disease, raising awareness, and the crucial part of funding for research.

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

February 29, 2012 is National Rare Disease Day. Even on leap year, we can make this day a special day! What isn’t so RARE about rare disease is the fact that it affects all of us. Although that sounds like a vague statement, let’s think about this a bit more.

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!

Happy Valentines Day from the Niemann-Pick Children’s Fund!

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.

The 39th Annual Hospital Hill Run presented by Price Chopper is taking place on June 2, 2012 and the Niemann-Pick Children’s Fund has a great opportunity to help promote awareness of Rare Disease!

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).

TRND (Therapies for Rare and Neglected Diseases) and the NIH team met with FDA representatives on December 13^th to discuss the progressive plans to bring Cyclodextrin to a clinical trial in 2012. For TRND, Niemann-Pick Type C is one of six pilot projects that were selected.

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