Rare Disease Day 2010 Photo and Video Contest Winners

Every year, from their offices near Paris, EURORDIS launches a photo and video contest to raise awareness for rare diseases. Initially it was an independent project, but in 2008 it become a fundamental part of the Rare Disease Day event.

“Julia Fitzgerald, our webmaster, came up with this idea in 2006 as a way to create awareness and build up a library of photos depicting a variety of rare diseases (which did not exist before),” says Paloma Tejada, EURORDIS Communications Manager.

The 2010 edition counted more than 240 photos and 30 videos entries from all over the world. The winners were recently announced:

Photo entry: “Together we have more power, and more fun” by Ilona Brandt (Germany)

Ilona Brandt (left) and her twin sister Claudia (right) cool their toes in a fountain. “We share fun and misery. It’s not fine, but it’s okay. We’re rolling along our path, and we’re happy to be able to have some fighting spirit,” says Ilona.

The Brandt twins have been living with Spinal Muscular Atrophy (SMA) Type IIa since they were born in 1968.

Video entry: “Garrett: The Boy Beneath The Bandages” by Andre J. Hermann (USA)

“Garrett Spaulding, 12, was born with the rare skin disease Epidermolysis Bullosa, over 50% of his body has open raw sores similar to a 3rd degree burn victim. His bandages have to be replaced up to 3 times per week. Often times, in the more severe parts of his body the bandages stick to open soars causing an extremely painful situation when removed”, say Andre Hermann, the professional photographer who developed this project.  ” Due to this, Garrett will not let his mom remove the problematic bandages as she normally does. He demands to do it himself. Because of this the bandaging process can often take up to 5-hours to complete”

To watch Garrett: The Boy Beneath The Bandages, please follow this link to Youtube. The complete photo essay Garrett: The Boy Beneath The Bandages is here for viewers to see.

Andre J. Hermann lives in the USA and is a professional photographer.

The winner and ten photo contest runners-up are collected in this photo set.

Enjoy more fine videos from this year’s contest on the Rare Disease Day video channel and more striking photos in the Rare Disease Day photo gallery.

What is Spinal Muscular Atrophy, Type IIa  (SMA)

SMA is an inherited neuromuscular disease characterized by degeneration of motor neurons, the nerves cells responsible for voluntary movement. It involves progressive muscle weakness and wasting, but the sensations and the ability to feel are not affected. These patients often require comprehensive medical care involving multiple disciplines

What is Epidermolysis Bullosa (EB)?

EB is a rare inherited skin disorder characterized by separation of the layers within the skin, which results in fragile, blistered skin. The blisters usually heal without scarring and the skin that is most often placed under trauma (feet and hands) is the most affected.

Sources: CheckOrphan, Eurordis, Wikipedia (SMA and EB)

Photo and Video Credits: Ilona Brandt and Andre J. Hermann (www.andrehermannphoto.com). Used with permission. All rights reserved.

>>Read more at CheckOrphan blog

What is the matter with Tarsila?

Tarsila is a year-and-a-half-old Brazilian girl who suffers from an undiagnosed medical disorder. She cannot sit on her own or crawl, she still has no teeth, and she can only mutter some sounds.

Despite her young age, Tarsila has a vast and complicated medical history. She reached all her development milestones until she was seven months old. Soon after that, her parents noted that she was having problems sitting on her own. The first neurological exams indicated she had cerebellum atrophy and consequently hypotonia. Tarsila also has kinky hair, known in medical terminology as pili torti and trichorrexis nodosa, as well as some silvery hairs. Additionally, she has spots on the sclera, a couple of purple birthmarks on her back, and a deficiency in copper and ceruloplasmin.

All these symptoms seemed to indicate Tarsila that was affected by Menkes syndrome, a rare genetic disorder that is almost never found in females. But the genetic screening was negative for this mutation. The doctors that attend Tarsila seem to have exhausted their knowledge. Put together, the results of her medical exams don’t seem to relate to any known disease.

As this medical mystery seems far from being resolved, Tarsila’s mother, Monica, is trying to reach out in her blog What’s the matter with Tarsila? (O que e que a Tarsila tem? in Portuguese). Monica’s goal is to find a child a like Tarsila and maybe even a cure for her illness. “I made a blog to draw attention to Tarsila’s condition. I have uploaded photos, videos, medical reports and exams so other families with similar cases, as well as doctors and researchers, can have more clues.”

Do you know any case similar to Tarsila’s? If so, please write to us at info@checkorphan.org and tell us about it.

>>Read more at CheckOrphan blog

She made it! Cindy Abbott reaches summit of Mt. Everest!

At the age of 48, after watching a Discovery Channel documentary called Everest: Beyond the Limit, Cindy Abbot decided to start training for mountain climbing. Soon after, she was diagnosed with Wegener’s Granulomatosis. After suffering from years of unusual and unexplainable physical problems, including permanent loss of vision in one of her eyes, the diagnostic came as a relief. Cindy had finally put a name to her disease and could start the treatment program.

Even while fighting with the side-effects of the treatment and the disease complications, Cindy remained focused on training and preparing to climb the highest mountain in the world. “Most people who attempt to climb Mt. Everest train for many, many years, but I do not have that much time! If I am going to attempt this climb I must do it this coming season,” said Cindy on her blog, Reaching beyond the clouds.

Once her medical condition was stabilized by the treatment program, together with her guide, Scott Woolums, Cindy attempted to climb Mt. Aconcagua (6,962 m, 22,841 ft), breaking her leg on her way down. It took her seven months, and two surgical procedures to resume her training. Only seven weeks after her last procedure, she summited Mt. Rainier in Washington State (4,392.5 m, 14,411 ft); last year, she summited Mt. Elbrus in Russia (5,642 m, 18,510 ft) and attempted Peak Lenin in Kyrgyzstan (7,134 m, 23,406 ft).

Last Wednesday, May 26, at the age of 51, Cindy finally reached summit of Mt. Everest (8,848 m, 29,029 ft). “Climbing Mt. Everest was the most difficult thing I have ever done! I will tell you: at no point did I think to stop and turn around! However, by the time I reached the summit I was in a state of amazement at the physical, mental, and emotional feat I had just accomplished: To stand (or sit as in the picture) and look down at the rest of the World. I reached beyond the clouds and I touched it! Now, all I want is to get home to my family,” Cindy wrote on her blog one day after she reached summit.

Cindy decided to use this climb, not only to fulfil her dream, but also to raise rare disease awareness and to raise money for the Vasculitis Foundation.

What is Wegener’s Granulomatosis?
Wegener’s Granulomatosis is a type of vasculitis , or inflammation of the blood vessels. For reasons not clear, the blood vessels in those areas may become inflamed, forming granulomas (small nodules), that can destroy normal tissue. This limits the flow of blood to important organs that become damaged. It typically affects the respiratory system, including sinuses, nose and lungs, but it may also involve kidneys, eyes, ears, throat and skin.
Early diagnosis and treatment of Wegener’s granulomatosis may lead to a full recovery. However, without treatment, it can be fatal. Wegener’s Granulomatosis is not contagious and there is no evidence it is hereditary. It most often occurs in the fourth and fifth decade of life. Patients are divided equally between males and females. It appears that Caucasians are far more commonly affected than other racial groups.

Visit Cindy Abbot’s blog, Reaching beyond the clouds, here.

Sources: Mayo Clinic, the Vasculitis Foundation, CheckOrphan.
Photo: Cindy Abbout showing Rare Disease Day logo at the top of Mt Everest ( © Scott Woolums)

>>Read more at CheckOrphan blog

Meet CheckOrphan

A big thanks to the folks at CheckOrphan for celebrating the birthday of blue jeans with us on May 20. Read the CheckOrphan blog post “Happy birthday, Blue Jeans!”  –

When you think about it, there is a close relationship between jeans and genes: they are both universal, they both come in pairs, and they are unique to the individual. Jeans and genes seem to have a natural affinity, which didn’t go unnoticed by the founders of the Global Genes Project. As the international symbol of hope for children suffering from life threatening and chronically debilitating rare diseases, most of them of genetic origin, they picked the blue jeans denim ribbon.

The Global Genes Project is a grass roots effort, aimed at raising awareness of rare diseases and rare genetic disorders. This movement was inspired by a video created by a rare disease parent advocate for Rare Disease Day 2009.

“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 diseases,” said Nicole Boice, founder and CEO of the Global Genes Project “In many ways, this is not so much a campaign, it’s a global movement. We want to create a world where children suffering from rare diseases have equal access to life-saving drug treatments.”

>> Read More at CheckOrphan Blog

‘Denim Jean’ Ribbon Unveiled To Promote Rare Disease Awareness

Campaign Brings Together Support from over 90 Corporations, Non-Profit Foundations, Research Institutions, Hospitals and Advocacy Groups; New Blue Jeans Denim Ribbon Unveiled To Promote Rare Disease Awareness

DANA POINT, CA – February 1, 2010 – Hope – It’s In Our Genes.™ The Children’s Rare Disease Network today announced the Global Genes Project, 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. To join the growing list of supporters, visit http://www.globalgenesproject.org/sponsors.php.

About The Global Genes Project

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