Tuesday, July 5, 2022

American Heart Association Features Addi and Cassi’s Fatal Genetic Cholesterol Disorder

February 1, 2010 by  
Filed under Featured Stories

Thank you to the American Heart Association for featuring Addi and Cassi Hempel’s story and increasing awareness of Niemann Pick Type C, an ultra rare and fatal cellular cholesterol disease that is trying to steal our twins away from us.

We hope that by reading our story, more people will understand the significance of the Niemann Pick Type C gene in the human body and how children with this genetic disease might someday help millions of people with cholesterol-related diseases.

A Story of Hope told by Chris Hempel: American Heart Association website

In October 2007, my husband and I received life-threatening news about our cholesterol – but our lives weren’t in danger. We learned that we were born with a defect in a critical cholesterol gene and that our precious six-year-old identical twin daughters, Addi and Cassi, inherited a double mutation – both genetic cholesterol defects.

For 18 months, I’d known something was seriously wrong and had been searching for answers. Out of nowhere, Addi and Cassi started stumbling and falling down (I later learned this is called ataxia). Then they started slurring their words (dysarthria). When they started forgetting their ABCs and nursery rhymes (dementia), the doctors started connecting the dots.

Our hearts were shattered when Addi and Cassi were diagnosed with Niemann Pick Type C disease, which was caused by the double genetic mutation. We were told that they would likely die in childhood from a progressive neurological condition caused by cholesterol accumulating in their cells, specifically their brains. There was no approved medication to treat the condition and not much we could do. We were devastated.

After a few weeks of crying jags, I decided to fight the enemy – cholesterol. I wasn’t going to spend years watching my beautiful girls wither away before my eyes. I contacted researchers, searched medical Web sites and started learning everything I could about cholesterol, genetics and the Niemann-Pick Type C gene on Chromosome 18.

In my search, I found a scientific paper that mentioned a non-toxic compound called Cyclodextrin that can extract cholesterol from cells. Research in NPC-afflicted animals was showing promise. This small glimmer of hope was all I needed.

For the past two years, I’ve been working full-time to move Cyclodextrin research forward. In April 2009, the FDA allowed our doctors to give Addi and Cassi intravenous infusions of Cyclodextrin. The twins are the first people in the United States to receive this experimental treatment. It’s too early to tell whether it will save their lives or if it might help others with cholesterol-related illnesses.

Some doctors believe Niemann-Pick Type C and Alzheimer’s could have a connection due to lipid malfunctions, while HIV-AIDS researchers have discovered that the Niemann-Pick Type C gene and cholesterol help the deadly virus replicate in infected people. Many top researchers are actively studying the Niemann Pick Type C gene, including Nobel Laureates Drs. Brown and Goldstein, who co-discovered the LDL receptor. Their work on the LDL receptor explained a genetic cause of heart attacks and led to new ways of thinking about cholesterol metabolism.

Today, about 500 people (mostly children) are living with Niemann- Pick Type C disease. What scientists learn about these children might someday help millions of people with cholesterol-related diseases.

You can support the Global Genes Project by wearing jeans on World Rare Disease Day on Feb. 28!

Also, the American Heart Association helped fund grants for research on Niemann Pick Type C disease. Donate today to help fund more research grants, or get involved with one of our many causes, like Go Red For Women, Start! Heart Walk or Power To End Stroke.

It is important to note that in 2009, the FDA approved the use of hydroxypropyl beta cyclodextrin (HPBCD) in a one time clinical trial to treat Addi and Cassi.  Their treatment is currently being monitored by the FDA. If you have cholesterol-related issues, please talk to your healthcare provider about what treatment is best for you or your loved ones.

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

February 1, 2010 by  
Filed under Rare Disease

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.

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