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.

Nothing Bundt Cakes for Nothing Bundt Beautiful Birthday Girls

Addi and Cassi turned six years old on Saturday. Over two years ago when the twins were diagnosed with Niemann Pick Type C disease, I was not sure they would still be with us today. Our little angels are amazing fighters and doing very well on their cyclodextrin infusions.

Here is the ice cream cone cake Grammy Helen and Mommy put together to celebrate their birthday milestone.  We purchased the bundt cakes at Nothing Bundt Cakes and used ice cream waffle cones from Williams-Sonoma and a fun plate and streamers to top it off.

Addi and Cassi normally don’t ingest much cholesterol but this cake was surely loaded with eggs, milk, butter, etc.  A big birthday treat!

Extraordinary Measures Inspirational Quilt – Help Niemann Pick Type C Families Win 10K prize By Voting Today

Five families with children suffering from Niemann Pick Type C disease have posted their touching videos on the Extraordinary Measures Movie’s Inspirational Quilt. They are running a contest on the movie’s website and the winner of the video contest will win $10,000 to be donated the charity/foundation of choice. The chances of winning increases with the number of votes the family receives. The Hadley’s and Hempel’s have also posted our videos — please vote for all videos and we all will be entered into a larger pool to win the $10k prize.

Hadley Hope Video – http://extraordinarymeasuresthemovie.com/?videoId=212
HempelFamily Video – http://extraordinarymeasuresthemovie.com/?videoId=193

I really love the words to the song written for Elise Marie Barton, a little girl who suffers from Niemann Pick Type C disease like Addi and Cassi. You can watch the video here – http://extraordinarymeasuresthemovie.com/?videoId=201 – and vote to help all NPC kids.

‘Elise Marie’ by Billy Johnson (Album: ‘It’s a Good Life’ – 2009)

I know a girl named Elise Marie
She’s a baby, she’s just three
Though she’s got a real bad disease
She’s as courageous as she can be

I know a girl sweet like a cherub
Big beautiful eyes
She got skin like porcelain
And a sweet, sweet smile

I know a girl, life ain’t easy
But she got the love of so many people
I know a girl gonna keep on tryin’
Cause hope is on the horizon

Hope is on the horizon
Hope is on the horizon

I know a girl, tough as nails
She take a hit like a champ
She might stumble, she might fall
But she get back up again

I know a girl, life ain’t easy
But she got the love of so many people
I know a girl gonna keep on tryin’
Cause hope is on the horizon

Hope is on the horizon
Hope is on the horizon
Hope is on the horizon

I know a girl named Elise Marie
Love will last for eternity
I know a girl named Elise Marie
Love will last for eternity, for eternity

Family of Twins with Rare and Fatal Cholesterol Disease To Seek FDA Approval To Deliver Cyclodextrin Into the Brain

The tagline of the new movie, Extraordinary Measures, about John Crowley’s fight to save his children from the rare and fatal Pompe disease is….Don’t Hope For a Miracle – Make One!

We are now working on making our own miracle  – a new compassionate use investigational new drug (IND) protocol and application that we plan to submit to the FDA by April 2010. We are seeking to add intrathecal and/or intraventricular cyclodextrin delivery into Addi and Cassi’s brains to treat Niemann Pick Type C disease.

We realize this sounds radical to some people but we believe that based on the data and the twins’ cyclodextrin treatment throughout 2009, we can show the FDA that doctors can administer cyclodextrin into the brain safely and that the treatment could be life-saving.

Our efforts to alter our treatment protocol from bloodstream to brain may create some amount of debate. We are prepared to fight the next set of roadblocks in our efforts to save Addi and Cassi and other children suffering from this fatal cholesterol disorder.

Addi and Cassi have been receiving cyclodextrin intravenous treatment (IV into bloodstream) for the past nine months. In September 2009, we stopped our weekly dose escalations and remain constant at a dose of 2500mg/kg, 8 hour treatments two times per week via IV.

Since putting cyclodextrin into the brain in humans has never been attempted before, it’s going to take a monumental effort to pull together the IND application. We remain hopeful that with the world-class team of experts we are assembling to write the protocol, we can administer cyclodextrin safely into Addi and Cassi’s brains.

Research funded by The Addi and Cassi Fund and Hadley Hope Fund with Dr. David Begley of Kings College of London has shown that cyclodextrin does not cross the blood brain barrier (which was under debate). However, Dr. Begley has found that cyclodextrin does not cross it may bind to the blood brain barrier which could be a key clue into how it is working. Dr. Begley will be presenting data at the Lysosomal Disease Network World Conference being held in Miami Feb 10-12, 2010.

The bottom line is that cyclodextrin is not getting into the brain.  However, cyclodextrin’s ability to possibly bind to the blood brain barrier or it’s impact in teh bloodstream may be causing the positive effects we are seeing in pur twins such as:

Reduction in the size of their lysosomes

Reduction of plasma oxysterols which appear to be a new biomarker for Niemann Pick Type C disease

Improved balance and stability, less ataxia and better head control

Improved mood and stronger emotions (happier, smiling and laughing more)

Much more affectionate, better eye contact

Increased appetite (better swallowing and chewing with Cassi in particular!)

More overall awareness to their surroundings, less “flat” and distant

Making more sounds and more volume to sounds

Increased concentration and ability to sit for longer periods

Not as floppy and jello-like, seem to have more muscle strength

Following directions better, seem to understand more what we’re saying even if they can’t talk

Improved general health status

We do not see any visible outward side effects – no vomiting, hair loss, skin rashes, dizziness – nothing. The most concerning and serious side effect with cyclodextrin appears to be pulmonary issues based on the animal studies conducted on NPC cats and mice. Apparently, in cats and mice they see increase macrophage development in the lungs but researchers do not know why.

We are keeping a close eye on Addi and Cassi’s pulmonary function. Last month, the twins underwent bronchoscopes at Children’s Hospital Oakland to look inside their lungs. I have posted the lung procedures on Vimeo for anyone to view (Addi – Cassi).

According to our pulmonologist, the girls have slight scattered nodules in their lungs. Doctors believe these nodules may be xanthomas. Xanthomas can occur in people with high blood lipids but usually appear on the elbows, joints, tendons, knees, hands, feet or buttocks.

Xanthomas are not a common feature of Niemann Pick Type C disease, however, there has been a case of suspected xanthomas with a child with NPC mutations. If the nodules are xanthomas, they are either as result of Addi and Cassi’s rare and private mutations or from the cyclodextrin IV treatment.  Since the girls are identical twins, the only logical conclusion is genetic or cyclodextrin. Interestingly, researchers do not see xanthoma development in the lungs of cyclodextrin treated mice or cats.

In addition, we had CT scans done on Addi and Cassi’s spleens and livers and there was no change in size. We are told by experts that this does not mean that the cyclodextrin is not benefiting their organs. On the other hand, we may not be achieving the right concentrations of cyclodextrin in the plasma. We are still trying to develop the pharmacokinetics around cyclodextrin.  They don’t exist and we have to create everything from scratch.

We have been in contact with top metabolic doctors in Japan and they are treating little girl with cyclodextrin.  The good news is they have seen a reduction in the child’s liver and spleen size. Her liver and spleen size were 4-5cm and 7cm below the coastal margin before cyclodextrin treatment and today are 1cm and 3-4cm below the coastal margin. She showed some improvement on her EEG and has not had any adverse effects with the IV treatment.  However, she is progressed and they are not seeing major neurological benefits.

It is clear that we must design further treatment options with cyclodextrin to try and improve neurological function. This means delivering cyclodextrin into the brain through the intrethecal and/or intraventricular route of administration. We will never know if cyclodextrin can save our girls unless we try.

Miracles do happen.  Please help Addi and Cassi as we try and make our miracle.

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