Denim Blue Jeans Ribbon To Symbolize Rare Disease Awareness; New Campaign of Jeans and Genes A Perfect Fit!

The Rare Disease community now has a powerful and universal new symbol to rally around — a blue jeans denim ribbon created by the Global Genes Project and the Children’s Rare Disease Network.  The worldwide initiative lauched today and is focused on raising awareness for millions of children living with rare and debilitating diseases like Addi and Cassi.  

Just like the pink ribbon symbolizes breast cancer awareness and the red dress created by the American Heart Association symbolizes heart health, the denim jeans ribbon is a perfect fit to symbolize the countless illnesses that involve gene defects like Niemann Pick Type C, Cystic Fibrosis, Prader-Willi, and Fragile X.

Numerous Corporations, Non-Profit Foundations, Research Institutions, Hospitals and Advocacy Groups are supporting this new demin campaign for rare disease.  Below is the press release announcing the initiative which is just in time for World Rare Disease Day 2010.

DANA POINT, CA – February 1, 2010 – Hope – It’s In Our Genes.™  The Children’s Rare Disease Network (http://www.crdnetwork.org) today announced the Global Genes Project (http://www.globalgenesproject.org), an initiative designed to raise awareness about the prevalence of rare diseases that afflict millions of children worldwide. Rare disease advocates organizing the campaign selected a blue jeans denim ribbon as the international symbol of hope for children suffering from life threatening and chronically debilitating rare diseases.

More than 90 corporations, non-profit foundations, research institutions and children’s hospitals have signed on to support the Global Genes Project including: 23andme, Amicus Therapeutics, Better Health, BioMarin, CheckOrphan, CollabRx, Counsyl, Coriell Institute, DonateGames.org, FasterCures, FreeForm, Genetic Alliance, Geni.com, Genzyme, Hide and Seek Foundation, Jackson Laboratory, Kakkis EveryLife Foundation, Knome, Lili Claire Foundation, Life Technologies, Mayo Clinic and Shire.

Numerous rare disease foundations from countries including Australia, Argentina, Belgium, Canada, China, New Zealand, Philippines, the United Kingdom and United States are helping support the global movement by organizing activities throughout February and leading up to World Rare Disease Day 2010.
“The Global Genes Project is providing a new platform to help unite people under a common goal and to make a difference for all children suffering from rare disease,” said Nicole Boice, Founder, Global Genes Project. “We want to create a world where children suffering from chronic disease have equal access to life saving drug treatments.”

Growing Public Health Concern; Inequity Exists

Rare disease is an important and growing global public health concern that can no longer be ignored. While each disease may be rare when considered by itself, rare disease collectively impacts the lives of millions. According to estimates from the National Institutes of Health (NIH), approximately 6,800 rare diseases exist, many of which are genetic in origin, translating to an affected population of 25-30 million Americans or approximately 1 in 10 people. In Europe, the number affected is almost identical. Approximately 75% of those affected by rare diseases are children, making the rare disease category one of the most deadly and debilitating for children worldwide.

Despite the success of the Orphan Drug Act of 1983, pharmacologic treatments exist for only a small fraction of rare diseases, or approximately 200 of the 6,800 rare diseases. After 25 years of orphan drug regulations and legislation, the development path to approve new drugs has not stimulated orphan drug development for small populations of patients facing rare disease.

Current studies also suggest that it takes more than a dozen years and hundreds of millions of dollars to take a potential drug from discovery to the marketplace. As a result, severe inequity exists in access to care and treatment for millions of rare disease patients.

Denim Blue Jeans Ribbon Campaign

Leading up to the annual World Rare Disease Day on February 28, 2010, the Global Genes Project will help facilitate a series of denim focused awareness events, charitable activities and engage corporate sponsors, government officials, celebrities and the media to help spread its lifesaving message of hope.

“Blue is the color of strength and our blue jeans denim ribbon is an ideal symbol that expresses solidarity,” added Boice. “Genes and jeans are a natural fit – both are universal, come in pairs and are unique to the individual. It’s a simple concept that anyone can embrace and a powerful way to raise awareness for rare disease.”

The Global Genes Project is asking rare disease advocates and supporters across the world to wear denim jeans and blue jeans denim ribbons the week of February 22 and leading up to World Rare Disease Day 2010. The organization is also asking supporters to display the blue jeans denim ribbon symbol on their websites and to actively invite co-workers, friends and family and their community to join in spreading this global message.

Blue jeans denim ribbons can be obtained by visiting www.globalgenesproject.org. Denim jeans and ribbon wearing supporters can submit digital photos on Facebook: http://www.facebook.com/group.php?gid=214263320931&ref=mf. To join the growing list of supporters, visit http://www.globalgenesproject.org/sponsors.php.  Global Genes Project Twibbons can be found here.

Stem Cells For Dummies: The Controvery, Pros and Cons, Facts, Future Research

Ok, I admit it. I am a Dummie!  Especially when it comes to Science!  I do hold a Bachelor of Arts in Political Science from Berkeley but it’s not exactly the type of “Science” degree you need when your children are dying from a rare cholesterol disease that causes dementia.

All of a sudden topics like gene therapy and stem cells are very important topics in our household as research into these areas could lead to life-saving treatments for our twins.   But learning complex scientific topics like stem cells can be intimidating to many people.

Dr. Larry Goldstein, professor of cellular and molecular medicine and director of University of California San Diego’s stem cell program, has written a book in plain English on stem cells called Stem Cells for Dummies. The book is intended for anyone who wishes to learn more about stem cells, where they come from and the potential use of stem cells in medical research and in treating disease.

What is the difference between Embryonic stem cells (ESCs), Adult stem cells (ASCs) or iPS cells (Induced Pluripotent Stem Cells)?  What are the many objections to stems cell use in research and why is it such a highly controversial topic?  The book is written for the layperson, doctors or even someone in the medical research field who is not familiar with stem cells.

Stem cell derived neurons will someday allow scientists like Dr. Goldstein determine whether breakdowns in the transport of proteins and  lipids within cells trigger the neuronal death and neurodegeneration that is a hallmark in Alzheimer’s and Niemann-Pick Type C disease.

Stem Cells for Dummies is a fantastic book that allows anyone to brush up on basic biology and learn about critical stem cell research at the same time. You can read the index of topics here. Learning about stem cells today could be life-saving for you or someone you love in the future as the world moves closer to regenerative medicine.

Sign and Circulate Jamie Heywood’s Declaration of Health Data Rights Petition Today

Wired Magazine is running a great article about Jamie Heywood, co-founder of PatientsLikeMe, and his quest to make personal medical records electronic and easily accessible online.

Heywood is behind HealthDataRights.org, a movement to declare our individual right to have and share our health data. Heywood has started the Declaration of Health Data Rights petition and supporters can publicly endorse it by going to HealthDataRights .org. Essentially by having access to all the health data about ourselves in a timely (key word!!) manner we can make better health decisions and save lives.

I am one person who would happily share all of our medical records like Heywood proposes.  I have been looking into a way to try and opt-out of the Hippa law Privacy Rule requirements.  I am not interested in keeping our medical records private. In fact, I want people all over the world to access our medical records in the hopes that someone can help save the lives of our twin daughters who suffer from a fatal cholesterol disease.  In some cases my doctor’s can’t talk to each other unless I give written permission.

I am asking everyone I know to endorse the Health Data Rights petition today. Our family has literally spend hours collecting Addi and Cassi’s medical records from hospitals including Lucille Packard Children’s Hospital at Stanford, Mayo Clinic, Children’s Hospital Michigan, Children’s Hospital Oakland, National Institutes of Health and Renown Children’s Hospital.

You can see the picture of the 3 inch binders I have created that contain the most important medical information on Addi and Cassi (we have two each so far). The orginal stack of paper was two feet tall!  To get all of our data to doctors at various hospitals throughout the country, I have sent hard copies of the binders to them. If they requested the records themselves, they would have to sift through the two foot stack.  Do the top doctors in the world have time to do this?

Currently, we are six months behind in gathering all of the new records – it’s a constant battle as we try and keep up and request the records for two sick kids.  There is no reason why medical records could not be in electronic form and available to anyone at a click of a button to share and easily SEARCH.

At one point, we were going to scan all of Addi and Cassi’s medical records and put them online allowing any doctor or researcher in the world to access them.  We figured out quickly that it’s simply too time consuming to tackle and manage. When you’re trying to save your kids lives you don’t have time to send Hippa release forms to hospitals and weed through fax cover sheets and garbage that hospitals often send by mail. If someone is chronically sick and dying, trying to collect all personal medical records is virtually impossible.

As a society, we are living in fear of the health and life insurance companies and the issues surrounding pre-existing conditions. We need additional legislation with health and life insurance companies to make sharing electronic medical records a reality. We would probably save billions of dollars in productivity time as well.

Special Olympics and Disability Advocate Eunice Kennedy Shriver dies

A big thank you to Eunice Kennedy Shriver for leaving millions of people and families dealing with disabilities of all types a lasting legacy. Maybe President Obama will make a nice comment about Mrs. Shriver today and all she did for the Special Olympics considering his horrible Jay Leno joke a few months back.

Washington Post article here.

CNN Covers How California Health Care Budget Cuts Threaten Life of Little Girl Suffering From Deadly Cholesterol Disease

Here is a story on sweet little Jessica Leoni who suffers from the same disease as Addi and Cassi. Her health care is being threatened by California’s Health Care crisis. Here is the story from CNN.

LOS ANGELES, California (CNN) — Anthony and Lisa Leoni have little time to worry about whether California’s budget crisis will affect their daughter’s life-sustaining care.

A steady stream of nurses, caregivers and therapists visit 12-year-old Jessica at home around the clock. Jessica suffers from a rare and fatal disease called Niemann Pick Type C. A cholesterol imbalance destroys healthy cells in the liver, spleen and brain.

Although Jessica led a relatively normal life before the illness worsened, her mother always knew the disease would eventually take over.

“Jessica was playful, happy and loves people. My heart was always a flutter because you never knew how many moments you’d get,” Lisa Leoni says.

In Jessica’s case, a grand mal seizure suffered Memorial Day weekend 2005 brought a world of hurt to the Leonis.

At the height of her symptoms, Jessica suffered up to 60 seizures a day. The disease, also known as NPC, has stolen her ability to walk, talk, eat or even breathe on her own. An oxygen machine pumps air into her lungs around the clock.

Anthony Leoni knew they needed help.

“If you told us 10 years ago this is how your life is going to be, I would have said we’re not capable. We don’t have the training, ability, we don’t have the energy, we don’t have the stamina.”

They found Bill Feeman of Westside Regional Center.

“When you walk into this home and you see Jessica, [you] just fall in love with her,” Feeman says. “She is a sweet soul — you see her, she’s physically helpless, yet there’s a light that shines out of her eyes, it takes you in.

“When you meet this family and you see how hard-working and involved they are, you just wanna do everything you can to help.”

Feeman worked to find in-home support in the form of nurse caregivers, therapists and medical supplies.

“This family also has all the normal responsibilities of raising a family. They have to pay their mortgage, they have to feed their family, they have to go to work. So when you have someone as medically involved as Jessica is, and you’re talking about all that worriment and responsibility of your child being ill and on top of that you still have to … bring home a paycheck every week in order to pay your bills, you need a lot of help.

“You have to be awake at night with Jessica. She cannot be left alone for even five minutes where someone is not awake and attentive to her needs. So you’re looking at a family, who when I first met them a year ago had some help in the home but nowhere near enough and they were exhausted. They were trying to be caregivers, nurses, doctors, and then get up and go to work during the day and still support their family.”

“We pieced all these programs together. We finally got everything in place where they can be parents again, which is a wonderful thing. And that’s what scares me about these budget cuts … it scares me a little bit that things might start moving backwards.”

One of those caregivers is Carmen Bailey, a certified nurse assistant and home health aide with Caring Connection. She has been working with Jessica for more than two years.

“It’s been an experience. I call her my angel. I bathe her, groom her, position her, massage her to make her comfortable.”

Carmen may be affected by the budget cuts.

“I also have to live to keep on going. I know I will still be here and whatever I need to do extra I’m willing to do it for the family and Jessica.”

Westside Regional Center is one of 21 state regional centers providing services literally from birth to death.

They work with people diagnosed as developmentally disabled, including those with cerebral palsy, epilepsy, autism and mental retardation.

Mike Danneker is executive director of Westside Regional Center.

“Our budget is in the 4 billion dollar range for about 240,000 clients in California,” Danneker says. “Westside gets about 140 million dollars a year and we have about 7200 clients.”

He believes the California budget fix will cut a half-billion dollars statewide from their budget.

“It’s going to affect everybody. Camps, therapies like art, horseback riding, some of the things people have done for decades will be gone. We’ll have to cut back the number of hours to about 300 hours a year. We estimate 40 percent of California clients have over 300 hours a year.”

Anthony Leoni has this to say about impending cuts to Jessica’s life-sustaining care.

“It’s absolutely frightening to think about what happens if the services go away. They’re absolutely essential to keep Jessica going.”

Jessica’s childhood friend Kristina Carmickle stands by her bedside.

“We did a lot of tap (dance) together, that was Jessie’s favorite. Once you have a friendship that’s big enough, you’re always wishing for the best.”

Anthony Leoni sums it up this way: “We know that there are other families that have challenges similar to us, sometimes even more dramatic than ours, and if we can serve a purpose or a role to help bring the awareness to public what it takes to take care of a family like ours, then we’re willing to make that effort.”

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