Researchers at the University of Oxford in the UK have developed a new blood test to help people diagnosed with the lysosomal storage disorder, Niemann-Pick Disease type C (NPC). The progressive and fatal inherited disease occurs in one in every 150,000 children and is a cholesterol metabolism disorder. Affected persons are unable to break down the cholesterol and other lipids in their body so this leads to an accumulation in the liver and spleen and a build- up of fat in the brain. It causes delayed motor skills in infants, lung and liver failure, ataxia, seizures and memory loss. The disorder results in a gradual loss of neurological functioning and leads to dementia. For this reason it is sometimes referred to as ‘Childhood Alzheimers’. It is always fatal. Life expectancy depends upon when the condition presents itself. Children can develop symptoms from birth but it may not manifest until the teen years.

Research into NPC

Due to the fact that NPC is so rare, it can be difficult to obtain funding for research. In the UK, where the new blood test was developed, there are only 100 children who have been diagnosed with NPC so there are few treatments and no cures. This is an agonizing situation for parents and loved ones who are forced to watch their children decline and can do very little about it. Some parents have become their children’s researcher and set out on quests to discover a cure for themselves. This situation isn’t acceptable and it’s vital that more money is put into NPC research and more publicity is given to it so that the general public know more about cholesterol metabolic disorders and the plight of those who have them.

New Blood Test

Now, the children’s charity Action Medical Research has funded Oxford University’s work in formulating the blood test. The team, led by Professor Platt, has identified a biomarker that can be used to determine how quickly the child’s disease is progressing and how well they have responded to treatment. The researchers are hopeful that the test could be used as a diagnostic tool so that the condition can be identified sooner, leading to better treatment and disease monitoring.

Professor Platt said

“We hope that the new blood test will benefit people with NPC of all ages – babies, children and adults. It could potentially help when diagnosing the disease. Perhaps more importantly, it could also be used to monitor how someone’s illness is progressing over time. This could enable doctors to assess the benefits of experimental treatments – to find out whether a new drug seems to be working or not. It could also help when trying to identify what dose of a drug works best.”

This is significant because of the pitifully few treatment options available to affected families and it may represent the first step towards a successful treatment or cure.

Currently the only way to diagnose a child with NPC is by doing skin biopsies to see how the skin stores cholesterol. A DNA test to look for the two genes associated with NPC may also be done.

Current Treatments

The only treatments available at this time are medications to control seizures and other symptoms and Miglustat, a drug developed in recent years by Oxford Glycosciences. It was originally developed to treat patients with Type 1 Gaucher Disease (GD1), a disease in which lipids accumulate in cells and organs. As this drug benefited GD1 patients, tests were done to see if it would also benefit NPC patients and it is now used as a disease modifying agent for NPC.

A low cholesterol diet is also recommended to try and delay the accumulation of cholesterol but there is no scientific evidence that this dietary approach is effective. Statins are also given. Physical therapy and massage can be done to maintain muscle strength for as long as possible and as a pain killing method.

If the blood test is used as a diagnostic or screening tool it could potentially be used before a patient develops any symptoms, allowing medications to be started straight away and possibly delaying the onset or lengthening the lifespan of the child. Until gene therapy advances and offers a permanent cure, this is a step in the right direction.

Citations and further useful reading:

Niemann-Pick Children’s Fund, accessed July 7, 2014, http://www.npcfund.org/

Niemann-Pick Disease, University of Maryland Medical Center, accessed July 7, 2014, https://umm.edu/health/medical/ency/articles/niemannpick-disease

Important New Blood Test for Devastating Rare Disease, Action Medical Research for Children, accessed July 7, 2014, http://www.action.org.uk/press_release/important_new_blood_test_devastating_rare_disease

Relative acidic compartment volume as a lysosomal storage disorder–associated biomarker, Danielle te Vruchte et al, J Clin Invest. 2014;124(3):1320–1328, accessed July 7, 2014, doi:10.1172/JCI72835, http://www.jci.org/articles/view/72835

Effective Ways to Treat Oxycontin Addiction, treatment4addiction, accessed July 7, 2014, http://www.treatment4addiction.com/addiction/painkiller/oxycontin

Understanding NPC, Niemann-Pick Type C Research, University of Notre-Dame, accessed July 7, 2014, https://niemannpick.nd.edu/understanding-niemann-pick-disease/

Patterson MC et al, Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol. 2007 Sep;6(9):765-72, accessed July 7, 2014, http://www.ncbi.nlm.nih.gov/pubmed/17689147

The post New Blood Test for Niemann-Pick Type C first appeared on Niemann-Pick Children's Fund, Inc.

This upcoming Feb. 28th is representing the seventh annual event!

How can you help?

We thought you'd never ask! A great resource is GlobalGenes.org. They do a fabulous job of creating opportunity such as wearing blue jeans the day of, wearing the gene's ribbon as a symbol of support, ideas on planning events, and also an upcoming Rare Disease Legislative Advocates (RDLA) in Washington, DC February 25-28, 2014.

Niemann-Pick Type C disease is one of many of the lysosomal storage diseases out there. These families just like the others experience extreme hardships, limitations on enjoying life to the fullest, and being able to support the burden placed upon their shoulders to care for their loved one(s). These families are like you and me…. they still have to provide income for their family, they get up each morning, and they try to wear a face of confidence to get throughout the day.

Your support in any generous way is extremely encouraged. It isn't always a monetary value to symbolize helping but other little actions like writing a blog post, hanging a flyer about the disease up in your break room, or simply a quick post on your social media sites.

Genes, we all have them.

World Rare Disease Day 2014

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The thought behind the focus is to highlight those in our community and celebrate these patients afflicted with NP-D. A time to arrange fundraising activities, create a publicity event to further educate our surrounding communities.  Education is key for our smaller disease but really any rare disease. Thank goodness we have a disease name we can pronounce? Our disease does have a lot of correlation with other more commonly known diseases. The thought and hope is to get research to “play nice together” and share even more information.

Throughout the past few years some exciting news has came about with the cyclodextrin treatments and even the drug trial started earlier this year by the NIH.

Through contributions from others, we can continually advance research and find effective treatments with eventually a cure for Niemann-Pick Disease!

Remember — awareness drives donations, donations drive research, and essential research will find effective treatments and a cure for Niemann-Pick Disease!

Some Ideas For Fundraising

• Bracelets
• Recipe Book
• Bumper/ Window Stickers
• Candles
• Banners
• Small leaflets
• Brochure
• T-Shirts / Hats / Hoodies
• Local Press Release
• Bowl-a-thon
• Car Wash
• Neighborhood Clean Up
• Shave your head if you raise “x” amount
• Governors' statewide proclamations
• Mayors' citywide proclamations
• Friends and Family letter campaigns
• Persevere wristband sales
• Casino night
• Family luncheon in celebration of a loved one with NPD
• Yankee Candle fundraiser
• NP day at the amusement park
• Classic car show
• Distribution of brochures
• Spaghetti dinner fundraiser
• Walk-a-thons, 5K and 10K run/walk
• School poster campaigns
• Golf tournaments
• Silent auctions & raffles
• Chamber of Commerce mailing
• Penny challenges at elementary schools
• Add NNPDF web site logo & link to your e-mail signature line. Click here for info

You can visit: http://nnpdf.org/aboutus_19.html for more information.

The post 12th Annual Niemann-Pick Disease Awareness Month first appeared on Niemann-Pick Children's Fund, Inc.

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.

The post 2013 Hospital Hill Run Discount (40th Annual) first appeared on Niemann-Pick Children's Fund, Inc.

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

The post Happy Holidays first appeared on Niemann-Pick Children's Fund, Inc.

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

The post 2012 Niemann-Pick Disease Awareness Month first appeared on Niemann-Pick Children's Fund, Inc.

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!

The post Road To Discovery 2012 - Greg Crawford first appeared on Niemann-Pick Children's Fund, Inc.

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

The post Discount Deadline Update for Hospital Hill Run first appeared on Niemann-Pick Children's Fund, Inc.

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

The post 20th Annual Family & Medical Conference first appeared on Niemann-Pick Children's Fund, Inc.

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!

The post Rare Disease Day 2012 first appeared on Niemann-Pick Children's Fund, Inc.