The Global Genes Project Aims to Battle Rare Disease Through the ‘Vote4Hope’ Campaign and Pepsi Refresh Competition

The Global Genes Project Aims to Battle Rare Disease Through The ‘Vote4Hope’ Campaign and Pepsi Refresh Competition

Over 15 Million Children in America Are Estimated To Suffer From 7000 Unique Rare Diseases; Children Unite As ‘Ambassadors of Hope’ To Win $250K Pepsi Grant For The Global Genes Fund

DANA POINT, CA – September 1, 2010 – All Kids Deserve To Have Hope For A Cure – The ‘Vote4Hope’ Pepsi Refresh Rare Disease Campaign starts today. The Children’s Rare Disease Network (www.crdnetwork.org) and The Global Genes Project (www.globalgenesproject.org) are inviting the public, as well as caregivers, family and friends of the millions of children who suffer from rare diseases and disorders, to ‘Vote4Hope’ throughout September during The Pepsi Refresh Project.

The ‘Vote4Hope’ Rare Disease campaign is designed to help drive awareness for the unmet medical needs of the global rare disease community, and to support the development of the Global Genes Project. The Pepsi Refresh ‘Vote4Hope’ campaign opens today at http://www.refresheverything.com/fundhopeforsickkids and will continue through September 30.

“We entered The Pepsi Refresh grant competition with the goal of continuing education surrounding rare diseases and to generate the global awareness the rare disease community deserves,” said Nicole Boice, founder and president, Children’s Rare Disease Network and the Global Genes Project. “Many rare diseases affect small numbers of patients and because of the rarity of each condition, the public is often unaware of these chronic and life threatening conditions. However, collectively millions of people worldwide have rare diseases and everyone knows an adult or child suffering from a rare condition.”

If the Global Genes Project wins The Pepsi Refresh grant competition, funding will go to support further development of the Global Genes Fund. The Global Genes Fund is an innovative platform, which promotes as number of rare disease initiatives including ‘in-a child’s-lifetime’ research and therapy development. The development of the Global Genes Fund will provide tremendous value to the millions of children, families and rare disease organizations that support them.

Time To Refresh Rare Disease Facts

A staggering 250 million people worldwide are estimated to suffer from approximately 7,000 different forms of rare diseases with the vast majority having no therapies at all. In the United States, FDA statistics show that approximately 350 new drugs have been developed for the entire rare disease patient population since the passing of the Orphan Drug Act in 1983 despite incentives put in place by the federal government.

According to the National Institutes of Health (NIH), 30 million Americans are afflicted with a rare disease, or 1 in 10 people. The National Organization for Rare Disorders (NORD) estimates that of the 30 million people in the United States suffering from rare diseases, 50 percent or approximately 15 million, are children. Many rare diseases appear early in life, and about 30 percent of children with rare diseases will die before reaching their fifth birthday.

Rare Kids Become ‘Ambassadors of Hope’

Throughout the month of September and during the “Vote4Hope” Pepsi Refresh Rare Disease Campaign, pictures, stories and videos of children living with rare diseases will be featured on a daily basis on the Vote4Hope website: http://www.vote4hope.org/.

Called the ‘Ambassadors of Hope’, these children are representing the 7000 different rare conditions and suffer from diseases including: Ataxia-Telangiectasia, Autosomal Recessive Polycystic Kidney disease, Batten disease, Branchiootorenal Syndrome, Canavan disease, Cystic Fibrosis, Dravet Syndrome, Duchenne Muscular Dystrophy, Fibrous Dysplasia, Joubert Syndrome, Mitochondrial Encephalomyopathy, Niemann Pick Type C, Hutchinson–Gilford Progeria, Spinal Muscular Atrophy, Subcortical Band Heterotopia, Tay-Sachs and Type 2 Gaucher’s disease. To submit a child with a rare disease to the Ambassadors of Hope program, please visit the Vote4Hope website at http://www.vote4hope.org/.

“The ongoing lack of treatments for thousands of rare diseases has created an immense burden on the U.S. healthcare system and leaves millions of children and their families in despair,” added Boice. “At the Global Genes Project, our focus is on creating a unified voice and a platform for hope for this community, with continued efforts on educating the public and our government leaders on the importance of creating a national strategic plan for rare disease.”

About The Global Genes Project

The Global Genes Project is a campaign of the Children’s Rare Disease Network and is a grassroots effort with the goal to increase awareness about the prevalence and lack of treatments for rare diseases worldwide. The Children’s Rare Disease Network is a registered 501c3 non-profit organization. For more information, visit http://www.crdnetwork.org/ or http://www.globalgenesproject.org.

About The Pepsi Refresh Project

The Pepsi Refresh Project is giving America the power to decide how to fund good ideas, big and small, that help refresh our world. In an effort to support those who generate innovative, optimistic ideas, the Pepsi Refresh Project http://www.refresheverything.com, will award more than $20 million in 2010 to move communities forward. Each month, The Pepsi Refresh Project accepts 1,000 ideas and asks America to choose which ideas will win a Pepsi Refresh Grant.

For more information contact:
Jacqueline Tanzella
Spark Public Relations
jacqueline@sparkpr.com
415-321-1889

Nicole Boice
Global Genes Project
nicoleb@rareproject.org
949.248.RARE (7273)

Sometimes dogs are the best medicine, for bone pain.

2:32 a.m. That’s the time of night (or super early morning) that Billy wakes up. I hope it’s a bad dream from too much Scooby-Doo. I listen to the monitor for a minute or two to see if he’ll fall back to sleep. I count on my fingers – January, February, March. Not long enough. I was really hoping we’d get to June before he needs more pain medicine for his bones (by IV infusion, about 5 hours).

I plod down the stairs to his room and offer him some water. He quiets. I trip back up the stairs and try to sleep, heart pounding from steps in the dark and worry. He cries out again (repeat above).

He cries out again. This time I just stay in his room pushing the dog into a tighter curl-up at the end of the bed as I perch on the edge of the twin mattress. I can’t really sleep at this point. And think how much I hate bone disease. I hate the surgery scars (make me wince, on the inside, every time I see them). But what I hate the most is the pain.

I won’t know for sure for a few more nights. Fingers crossed it’s just a bad dream.

I wrote this in May but was too superstitious to post it. It was pain, and Billy did more infusions. I was talking with one of my favorite researchers today about the pain. Apparently, Billy has it worse than most. Maybe he feels okay about 80 percent of the time and then miserable with pain 20 percent of the time? That 20 percent haunts me.

One of the reasons we (me) went for getting  a companion dog for Billy was because I read that pets can help with pain, pets make people feel better. Everyone, pretty much, thought I was out of my mind to add another responsibility to my day to day life. Now everyone loves Picasso and has no doubt he is great for Billy, especially when Billy sings songs to Picasso like “you are my buddy, you are my pal” as he gives him sweet pets.

Slow with a cup of milk on the side.

When you have a medically fragile child, it seems like every part of your life slows down, almost to a freeze.

I learned quickly with a few pulled back muscles that I have to use my legs to lift my son (about 40 pounds at diagnosis, now about 90 pounds). His gear is big and bulky – a walker with wheels and built-in seat and lightweight wheelchair (less than 30 pounds). A transfer board helps when he has a leg cast or is post-orthopedic surgery (yes, you can love things like transfer boards, really love). We do everything slow, even if it means we are always late.

My son’s weight is a battle. The leaner he is – the better for his fragile bones. But, the catch is that when you have no thyroid (removed, disease related issue) and spend most of your time unable to move much because of pain, injury or surgery, weight management becomes a whole different animal (oh, and when son’s favorite foods are pizza, cheese burgers and Cheetos, extra complicated).

I dread his medical check-ups because I know each and every doctor will frown at me when his weight climbs. It’s like getting an F on top of a pile of F’s. When his bone doctor (who I really love, even more than the transfer board) quips that he looks “um, like he might have gained some weight,” it takes everything I have to not look him in the eye and say “listen up doc, you have no freaking clue what it takes just to keep this kid in one piece, no freaking clue?”

But, I have good news, maybe even great news.

For the first time in over four years (four years) my son weighed in at a loss. He grew taller and did not gain any weight during the past four months.

It has taken lots of friendly nagging. “Is that a good food choice?” “Can you ride the stationary bike for just two more minutes?”

I listened in on a web presentation last week through Mamapedia and the California Milk Advisory Board that confirmed some of my tricks – baking together, slowing down to enjoy our food, eating together, new foods in new ways and the like. So as it turns out, our whole being the slowest family ever, that can be a good thing. I’ll take this win for as long as it lasts – gobbling up some delicious A’s for the first time in a long time.

// CC

Movers and Shakers – well sort of.

Hi, I’m Catherine Calhoun.  I live in Louisiana and learned almost three years ago that my son, Billy, now 7-years old, has McCune-Albright syndrome/fibrous dysplasia.  MAS is rare and characterized by fibrous dysplasia (fragile bones), endocrine and other problems and café-au-lait skin markings.  It is caused by a chance mutation in GNAS coding for the protein Gs alpha.  The Gs alpha is constantly on (like a jammed accelerator) – this causes over-production of several hormones and abnormal bone growth.  It’s progressive.  For Billy, the fibrous dysplasia is crippling, deforming and painful.  MAS/FD shows my son little mercy.

We’ve been in the trench of medical need for almost three years.  And somehow in the past few months, I’m not sure why or how, I feel that I really must get more involved.  Instead of crying (so much), organizing Billy’s medical information repeatedly, and re-reading medical journal articles, I want action.

I attended a conference in Bethesda, Maryland at the National Institutes of Health (NIH) in July 2009 on rare disease and was absolutely blown away with what other patient advocacy groups for rare disease are making happen.  I decided to take matters into my own hands literally – I started writing letters and emails to my senators and representatives.  I asked my family and friends to do the same.  We asked for continued and increased funding for NIH during the appropriations process.

And then when I learned that my representative would be home from Congress on break – I really stepped up my parent advocacy work.  I emailed him.  My family and friends emailed him.  And some people I don’t even know emailed him.  When I came across proposed legislation on bone health backed by the “big guys” of bone disease (i.e. osteoporosis), I stepped it up even more with handwritten notes from Billy and his big sister, Ella (photos of Billy and Ella were included).  I followed their notes with a fax from me providing additional information on the bone health proposed legislation and the need to include rare bone disease – and I also explained that I want to model engaged and empowered citizenry for my children.  I believe in the process and want to grow that same belief in Billy and Ella.

Honestly, I wasn’t sure what would happen.  I’m small potatoes and as much as I do believe in the process – I just didn’t know if we would succeed this round.  And then on Wednesday afternoon, we got the call.  We will meet with our representative (Dr. Bill Cassidy, R-LA) tonight before his town hall meeting.

Billy and Ella are pretty excited about a face-to-face meeting with Dr. Cassidy.  I hope they share their story because it is an important one – and ask Dr. Cassidy to be a voice for the little guys of bone disease.  There is a vast need for best practices in care, research, better treatments, etc.

The stakes for rare disease are high (see this post at Disruptive Women).  I consider tonight’s meeting a triumph and privilege – wish us luck!  Catherine Calhoun

P.S. You know I’m running a pretty low-tech political machine over here when the only piece of paper I can find to scratch Dr. Cassidy’s coordinator’s number on is American Girl puppy paper (featuring “Coconut,” I believe).