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

DANA POINT, Calif., Sept 01, 2010 /PRNewswire via COMTEX/ — 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

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/fund-hope-for-sick-kids 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 for which there are limited drug treatments. In the United States, 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.

SOURCE Children’s Rare Disease Network; The Global Genes Project

Interview: Amy & Chris Martin & Their Involvement with Duchenne Muscular Dystrophy

The following is an interview with Amy & Chris Martin who have a son with Duchenne muscular dystrophy. Amy and Chris have been instrumental in helping bring about the UCLA DMD Research and Clinic. Take a moment to learn more about how and why they are committed to bringing a cure to DMD.

How long ago was your son diagnosed?
3 years ago 

What was your reaction?
Shock, confusion and terror….like a bomb exploding on our house. 

What led you to Cure Duchenne?
Friends introduced me to Stan (Nelson) and Carrie (Miceli). Then I started doing research on the web and came across CureDuchenne. I liked the name.

We met Paul and Debra (Miller) and really liked their approach to finding and funding viable treatments that may help this generation of boys. We also liked the fact that they were in Southern California. There was no need to reinvent the wheel and start our own foundation. We wanted to work together.

What made you decide to get involved in fundraising?
Fundraising is the only thing we can do! We are not scientists. We are not doctors.  We are parents who are very involved in our community and like to give back. When we needed help we got it because of that community spirit. Scientists need money and we can help. Why wouldn’t we?

You’ve done very well with Dealing for Duchenne Celebrity Poker Tournament. How did you get started with such a successful event? (What’s your secret?)
Both Chris and I are very active within our community and at our kid’s schools. We volunteer and coach teams and always help friends in need. When we asked people for help in putting together an event, we got it!  That’s what friends and people in your community are supposed to do for one another.

We feel very blessed to have such wonderful friends. I guess the secret is being a good friend, and also being able to ask for help. People want to help but you have to ask for specific things. No one knows what they can do, you need to tell them.

What would you say to parents who’ve just received the diagnosis?
First I would say, in the beginning it is okay to do nothing. To feel sad, angry, and depressed. It helped me to learn as much as I could about the disease and to also talk to my friends. I didn’t want to get involved in parent support groups. I wanted to live life in the present and do whatever I could to make a difference in my son’s future.  

Everyone handles it differently. There is no right way to grieve. It is a process and ours is especially difficult. It is a burden to live with knowing that your child is dying inside and that there is nothing doctors can do to prevent it. We are not equipped to deal with that.

I cannot explain how hard it is to live with this burden of knowing. It doesn’t get easier, but you do get better at it. Denial is okay sometimes. I do not blame or judge anyone who wants to go away and live life with their child and wait for scientists to find something that will help. Sometimes I want to do that and sometimes I take time to do just that! But I know that the science needs funding, and I have to help – it is the only proactive thing I can do to give my son a fighting chance.

What would you say to people looking to get started with fundraising?
Ask your friends for help! Think about who you know, what they may be able to do to help you, and then ask them. Learn about the disease process, the research being done, and think about why no one knows about Duchenne. Talk about it. Be honest with your friends.

I know that every parent in my situation would do the same thing because we all fight for our kid’s futures every day. We all want to give our kids the best chance at living a full life. I never knew how to throw a gala or charity event. I asked for help. I was honest in saying “I don’t know how to do this, can you help me?”

If you want to do something talk to your friends about ideas, ask them for help, and you will be surprised. CureDuchenne is a great resource and ready to help any parent that wants to get involved.

Any other thoughts you’d like to share with the DMD community?
People need to know what Duchenne is. I have been in the awkward situation of hearing about children in my community who are suffering from Leukemia, cancers, diabetes, and other childhood diseases.

Everyone feels so sorry and sad for them, and yet I want to scream, “I would give anything for a doctor to tell me that my son has an 80% percent chance of survival if we do a horrible (but life saving) treatment for 2 years!” I’d take even a 70% or 50/50 or anything!

Duchenne is a death sentence. So were AIDS, Cancer, Diabetes, and Cystic Fibrosis. If we can’t talk about how bad it is, we will never get enough attention or funding.

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Ryan & Jack Fight Back 5K Run

Ryan & Jack Fight Back 5K Run and Children’s Fun Run

Sunday, October 03, 2010
8:30am start
Masons Mill Park
3500 Masons Mill Road
Huntingdon Valley, PA

The race will be on Sunday, October 3rd at Masons Mill Park and proceeds will go to Cure Duchenne.  The address is 3500 Masons Mill Road in Huntingdon Valley, PA  19006.  The race will begin promptly at 8:30am.  Same day registration will be available from 7:30am to 8:15am.  

Download the Event Flyer here

Download the Registration Form here

In addition to the 5k race, there will be games for children, face painting, and a fun walk. Come join the fun and remember that’s it’s for a great cause!

Please keep in mind the 5K run is a trail course. Strollers/wheelchairs would not be appropriate. The Fun Walk is stroller/wheelchair accessible as it is a concrete path.

Registration is $25 when registering prior to race. It will be $30 for race day registration.

Anyone registering by September 12th is guaranteed a T-shirt!

To register, please Click Here

See registration steps below

If you have any questions, please contact Kristen Mull at kmull8(at)comcast.net.

Background on Ryan and Jack:

When Ryan was 15 months old we were concerned that he was not walking. The Intermediate Unit visited us and said he was fine so we thought nothing of it. At 18 months Ryan did start to walk but soon developed a limp and was not able to climb stairs. We went to see an orthopedic physician who did x-rays of Ryan’s hips, knees and ankles and again saw no problems. He then suggested a neurologist which didn’t make sense but we went as we wanted to find out what the problem was. The neurologist said he had weak leg muscles and ordered blood work – we still thought we had nothing major to worry about.

On June 27, 2008, we were getting ready for our daughter Katie’s 6^th birthday party when the physician called to say that Ryan has high CPK levels – over 30,000. He said an average person has a CPK of 200 and that this along with his other symptoms indicated Duchenne. We did not tell anyone that day as we did not want to ruin Katie’s birthday. Soon after it was confirmed through genetic testing. The physician suggested we have Jack tested, and because we wanted some good news, we did – we thought that Jack is so much stronger than Ryan was that there was no way he would have Duchenne as well – we were wrong.

We are worried about the future of our boys, our daughters, where we will live, and how we will get through this. We are completely overwhelmed with all that we have yet to go through. We should be saving for college for our son’s, not worrying about saving to make our house handicapped accessible! We should be worrying about their schoolwork, what sports to put them in, and their future – but not about how limited their future is!

One line we always read that gets me, from ‘Irish Marriage Blessing’:  “may you live to see your children’s children”. I look at it every day and it makes me cry for this will not be possible unless we find a cure.

We do have a great support group of friends and family that have truly carried us through the past 2 years.

To register, please Click Here

Steps to register:

• Click on the Orange “Get Started” button or “Register For Event”
• Select “Ryan & Jack Fight Back 5K Run”
• Select “Yes register online now”
• Continue through rest of the registration

If you have any questions, please contact Kristen Mull at kmull8(at)comcast.net.

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