Is Hannah worth a few clicks of your time?

During the entire month of September, I will dedicate my time to raising awareness for all children who suffer from rare diseases and have no treatments or cures in sight.

According to the National Institutes of Health (NIH), there are approximately 7,000 different rare diseases affecting approximately 15 million children in the United States. This statistic does not take into account the number of children affected with rare disease in the Europe Union or around the world.

According to the FDA, over the past 25 years and since the passing of the Orphan Drug Act in 1983, we’ve had approximately 350 new drugs brought to market for all 7000 rare disorders despite the incentives by the federal government.

Think about this for a moment. 7,000 rare conditions. 15 million rare children in the United States. And only 350 new drugs for rare disease in 25 years? These are mind blowing statistics by any measure.

The Children’s Rare Disease Network and The Global Genes Project are inviting the public to ‘Vote for Hope’ at the Pepsi Refresh Project to kickstart treatments and cures for the millions of kids who suffer from various forms of rare diseases.  There is no better time than now to “Refresh Rare Disease.”

The Pepsi Refresh ‘Vote For Hope’ Rare Disease campaign begins September 1-30 and is designed to drive awareness for the unmet medical needs of the global rare disease community and to encourage pharmaceutical and biotech companies to get more involved in creating treatments for rare diseases.

The Global Genes team hopes for a chance at winning $250,000 to continue the Foundation’s efforts to bring awareness to the issues surrounding the lack of treatments for rare disease and intends to build a platform to help drive “cures in the lifetime of a child.”

That’s exactly what I want — treatments now for Hannah and for other kids suffering from debilitating and life threatening conditions such as Batten, Niemann Pick type C, Progeria, Cystic Fibrosis, Duchenne Muscular Dystrophy, Fragile X, Williams Syndrome, Canavan disease, Joubert Syndrome, Epidermous Bullosa, Medulloblastoma, Ewing’s Sarcoma, Wilms’ Tumor, Krabbe disease, Pompe disease and Giant Axonal Neuropathy.

And that’s only a list of 17 of the 7000 rare conditions affecting children.

From rare neurodegenerative disorders to rare cancers to rare bone diseases, parents and families just like mine are all fighting for the same thing for our children – treatments and cures to keep them happy, out of pain, and most of all, alive.

Please join me during the month of September and take time out of your day to Vote4Hope at the Pepsi Refresh Project.

Millions of kids like Hannah are counting on us to show the world and Time Magazine that, “It Is Time We Paid A Lot More Attention To Rare.”

• Join the Facebook Vote4Hope team here

• Get a Vote4Hope Badge here

• Vote Now For Vote4Hope On Pepsi Refresh

Join Global Genes Project and Get Your Denim Ribbon To Support World Rare Disease Day

World Rare Disease Day 2010 will be held on February 28.  Please join the Global Genes Project to help raise awareness for Rare Diseases of all types by wearing denim on Feb. 28 or holding an event in your local area to raise money for your favorite Rare Disease charity.

According to the National Institutes of Health (NIH), 1 in 10 Americans suffers from a Rare Disease — that’s 30 Million people in the US alone! Collectively, Rare Disease is not so Rare!  Join our campaign to help raise awareness by downloading your jean ribbon today and spreading the word!

Here are some facts on Rare Disease that you may not know:

• A Rare Disease is life-threatening or chronically debilitating disease which is of such low prevalence that special combined efforts are needed to address them (ie. such as neuronopathic Gaucher’s disease)
• Approximately 7000 different Rare Diseases exist, with countless awaiting researchers to identify
• Today, Rare Diseases are not being invested in by pharmaceutical companies because of small patient populations and lack of financial incentives to Pharmaceutical and Biotech companies
• Pharmaceutical companies have only developed treatments for 200 of the 7000 rare diseases causing a healthcare crisis
• Approximately 75% of Rare Diseases affect children (22.5 million in the US)
• 50% of the identified Rare Diseases have no foundations, support groups or community support for the families

Let’s never give up Hope! It’s In our Genes!

Just two clicks could make a difference

Would you give just two “clicks” of your time to help Hannah?  Chase Financial institution is giving away $25,000 to charities based on the number of votes they get.  

When you have such a rare disease like nGD, you don’t have the support (financially and people-wise) that the bigger causes do.  Here is our chance to get a real piece of support financially and in terms of people learning about nGD.  Do you have any idea what $25,000 would do towards research and support for Hannah and the other kids with neuronopathic Gaucher’s disease?  It would be a HUGE start!!

Please just take a moment, two clicks of your time, and vote to give us a chance at this huge gift?  (And please tell your friends)

10/26, Golf Tournament and Auction, San Jose, CA!

Coldwell Banker Residential Brokerage will hold its 13th annual Gregory Austin Macres Memorial Golf Tournament on Oct. 26 at the Palo Alto Hills Golf & Country Club, 3000 Alexis Drive. Registration is $135 and is open until Monday. A raffle and silent auction will also be held at the event.

The event is a fundraiser for the Children’s Gaucher Research Fund. Children’s Gaucher Disease is a progressive debilitating genetic disease that attacks children and causes a variety of systemic and neurological medical complications. The public is encouraged to participate in the tournament and may register by contacting their local Coldwell Banker Residential Brokerage office or sales associate. For more information on the Children’s Gaucher Research Fund, please visit www.childrensgaucher.org.

For more information on the Gregory Austin Macres Memorial Golf Tournament, call 925-275-3085.

Addison Bower Walk (Video)

Addison Bower Walk

Sept 20, Neuronopathic Gaucher Fundraiser – Virginia!

For anyone around the Fisherville, Virginia, area, please consider participating in this event.  This event will DIRECTLY help children like Addison (for whom the walk is named), Hannah, and all the other children diagnosed with Gaucher’s disease, types 2 and 3.

You can find complete details here, but are some of the details…

Amanda Bower Walk
Sunday, September 20th

Wilson Memorial High School
189 Hornet Road
Fisherville, Virginia

Registration, 1 to 2 pm
Start time:  2 pm

Registration fee (day of event):  $35
Early online registration:  $30
Children 2 – 12:  $15
Registration Fees include a Tshirt

Creating a plan of attack with the National Gaucher Foundation

Unfortunately there is a lot that I have been doing for the past few months that I can’t blog about.  But I have been talking to researchers all over the country, different lysosomal storage disease organizations, as well as trying to reach out to the media.  I really only post when it is something that is “nonpolitical” or published. 

Today, I had a wonderful conversation with the head of the National Gaucher Foundation for about 45 minutes.  They have been so incredibly supportive of our fight against GD23, and they have opened their arms wide open to our families.  For the past 10 years or so, there was an agreement that the Children’s Gaucher Research Fund would fund and support GD23 families, and the NGF would fund and support GD1 families.  So, to take us in with such passion and care after a decade, it has just been fantastic.

She and I are going to work together to come up with a sensible plan to get a real formalized research plan and structure together.  She has some ideas that she is going to work on during the next week, and I have a lot of ideas and contacts to bring into the mix.   I really think she and I will work well together.  She supports my passion and drive, yet I feel comfortable enough with her because she is not afraid to be honest with me about how things “work” and keeps my feelings in check as to not to get my hopes up. 

Our concept is instead of having a few researchers here and there doing their own thing, we are going to attempt to create a huge umbrella with all the Gaucher organizations and other related diseases working together,  get a common point where all the research information is kept updated, and work on finding research that could make a difference for kids like Hannah who are here today, still fighting. 

Bottom line, our goal is to get work towards finding a treatment for our kids.

With the power and expertise of the National Gaucher Foundation behind us, I really believe we have the chance to get some real research done.  Keep your fingers crossed…

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