At the age of 4, Alex decided she wanted to set up a lemonade stand and use the money to help doctors find a cure for her cancer

This week marks six years since the founder of Alex’s Lemonade Stand, Alexandra Scott, passed away after a seven-year battle with cancer. She was eight years old.

Born on January 18, 1996, Alex was diagnosed with neuroblastoma two days before her first birthday. At the age of four, Alex and her brother Patrick decided they wanted to set up a lemonade stand and use the money to help doctors find a cure. Their first lemonade stand was held on their front lawn in the year 2000, raising over $2,000.

For the next four years, despite her deteriorating health, Alex held an annual lemonade stand to raise money for childhood cancer research. By the time she passed away, on August 1, 2004, Alex had raised over one million dollars. Following her inspirational example, thousands of lemonade stands and other fundraising events have been held across the country by children, schools, businesses, and organizations, all to benefit the Alex’s Lemonade Stand Foundation for childhood cancer.

Today, 10 years after that initial lemonade stand, the Alex’s Lemonade Stand Foundation has raised more than $30 million. That money has helped to fund more than 150 cutting-edge research projects, to create a travel program to help support families of children receiving treatment, and to develop resources to help people everywhere affected by childhood cancer

To learn more about Alex and the Alex’s Lemonade Stand Foundation, visit their website (http://www.alexslemonade.org/) and their blog.

What is neuroblastoma?

Neuroblastoma is a neuroendocrine tumour. It most often originates in one of the adrenal glands but can also develop in nerve tissue in the neck, chest, abdomen, or pelvis. It is the most common extracranial solid cancer in childhood and the most common cancer in infancy. Close to 50 percent of neuroblastoma cases occur in children under the age of two.

Sources: CheckOrphan, Wikipedia

Picture: Original Alex’s Lemonade Stand, from Alex Lemonade Foundation blog.

“We are pleased with the FDA’s decision to allow our planned clinical trial of GRNOPC1 in spinal cord injury to proceed,” said Thomas B. Okarma, Ph.D., M.D., Geron’s president and CEO. “Our goals for the application of GRNOPC1 in subacute spinal cord injury are unchanged — to achieve restoration of spinal cord function by the injection of hESC-derived oligodendrocyte progenitor cells directly into the lesion site of the patient’s injured spinal cord. Additionally, we are now formally exploring the utility of GRNOPC1 in other degenerative CNS disorders including Alzheimer’s, multiple sclerosis and Canavan disease.”

Yes, you read that correctly. Canavan disease. Geron has already provided their stem cell line to lead Canavan researcher Dr. Paola Leone, and she is currently in the process of testing the cells on a Canavan mouse model. Furthermore, the press release goes on to talk specifically about Canavan and Dr. Leone.

Canavan Disease: Canavan disease is a fatal neurological disorder that belongs to a group of genetic disorders called leukodystrophies, characterized by the abnormal development or degeneration of myelin. Symptoms of Canavan disease present in the first six months of life and death usually occurs at 3 — 10 years of age. GRNOPC1 is being tested in a rodent model of Canavan disease in collaboration with Dr. Paola Leone, Director of the Cell and Gene Therapy Center, at the University of Medicine and Dentistry of New Jersey.

This is tremendous for our community, both because of the attention it is helping garner for Canavan, a rare disease which is listed in this article right next to more commonly known diseases, such as MS and Alzheimers, and because of the formal recognition of Canavan as a good model on which to test therapies for other white matter disease. We are all hopeful for this upcoming trial and excited that the years of fighting to have the stem cell ban lifted are at an end. If this trial is successful, the possibilities are endless.

For example, here is an explanation and visualization of the results of the animal testing:

And here are videos of the actual rats in the lab:

While these circumstances were highly controlled and we should not necessarily expect the same results in humans, we can certainly hope! I think that is the key word of this new development. Hope. When we sent this press release out to all our families and sister organizations on Friday, hope was the word which came up repeatedly in almost every reply we received. What a tremendous distance we have come in the past fourteen years since Jacob was diagnosed.

So, thank you, Geron, for fueling our hope that one day we will have truly effective treatments for these devastating disease.

(This article was originally posted at the Jacob’s Cure blog: A Blog Against Canavan Disease.)

Last year, during a routine checkup, Ella was found to have developed kidney cancer. After a long and difficult treatment, which included a surgical procedure and chemotherapy, she was declared cancer-free.

Ella is now three years old and her parents, James and Elly, are concerned about the possibility of her eyesight being lost or becoming very poor due to the aniridia. They have turned their hopes to the Moorfields Eye Hospital in London (United Kingdom). “It’s something I believe could be cured in this day and age,” said Elly earlier this year to JournalLive. “Especially with the stem cell technology that’s out there.”

Recently, the Cells for Sight Transplantation & Research Programme has treated several adult patients with aniridia using stem cell therapy. “The early results are promising but far from perfect” says Dr Julie Daniels, who leads the  programme at Moorfields. “This outcome may not be enduring and has not been experienced by all patients treated. It is imperative that we have a better understanding of the basic biology of disease progression in aniridia in order to improve our existing therapeutic strategy and to develop novel therapies that may preserve or improve vision for longer.”

To pursue the research and find a treatment for their daughter, James and Elly are raising money for aniridia research. With the cooperation ofJustGiving, an online charity platform, they launched Shine the Light on Aniridia. “We know that the reality is her sight could be lost or become very poor; such is the nature of aniridia,” says Elly. “We cannot stand by after three years of her courage and bravery and not try and make sure that the cure for this condition is funded and found.”

How can you help?

If you want to donate or contact Ella’s parents, please visit the Shine the Light on Aniridia website here. Donations will be handled byJustGiving.

What is WAGR syndrome?

WAGR syndrome is a rare genetic condition that can affect both boys and girls. Babies born with WAGR syndrome often have eye problems, and are at high risk for developing certain types of cancer and mental retardation. The term WAGR stands for the first letters of the physical and mental problems associated with the condition:

_Wilms Tumor, the most common form of kidney cancer in children.

_Aniridia, some or complete absence of the colored part of the eye, called the iris.

_Genitourinary problems, such as testicles that are not descended or abnormal location of the opening for urination in boys, or genital or urinary problems inside the body in girls.

_Mental Retardation.

People can have WAGR syndrome but not have all of the above conditions. Most people with WAGR have two or more of these conditions.

What is Aniridia?

Aniridia is a rare congenital condition characterized by the underdevelopment of the eye’s iris, the circular structure that gives the eyes its color. This usually occurs in both eyes and is associated with the poor development of the retina. Vision is severely compromised, being the disorder also associated with a number of other complications with the eye.

Sources: Aniridia Network UK, CheckOrphan, International WAGR Syndrome Association, Journal Live, Shine the Light on Aniridia

>>>>Read more at CheckOrphan blog

Dana Point, Calif. (June 29, 2010) – Every parent needs a supportive, collaborative network full of information where medical professionals, researchers, patients, parents, advocates and the general public share knowledge about the rare childhood diseases that affect 22.5 million American families. RareSpace is an online knowledge sharing platform designed in partnership with R.A.R.E. Project, the Children’s Rare Disease Network and Medpedia.com to help grow resources for children with special needs. This resource is available online now at RareSpace.

“RareSpace is a unique and valuable tool for families caring for children with rare diseases,” says Jonathan Jacoby, CEO of the R.A.R.E Project. “With the help of Medpedia.com, RareSpace will become a safe place to share important information aggregated from the rare disease community at large, which is vital to finding hope for children.”

It’s the collaborative structure of RareSpace that makes it truly unique. The site will educate and connect users about critical resources, innovations in research, standards of care as well as best practices in treating rare diseases and disorders. Creating a community filled with medical professionals, policy advocates, researchers and parents catalyzes a free exchange of information, increasing the general knowledge quotient of every stakeholder. The goal is to supply real resources and connections for those who are in the care of children living with rare diseases and disorders, and help each family not feel isolated in their struggles to care, treat and advocate for these sick children.

“It’s so critical for families and caregivers to have a knowledge bank like RareSpace to draw from,” says Devon Watts, community manager at Medpedia.com. “We are excited that Medpedia.com is a part of connecting a community and granting an open space for dialogue and education. It’s the widespread sharing of information that will benefit patients most.”

Different from other community sites, one key advantage of RareSpace is that people can share documents and resources very easily. Discussions of genetics and genetic diseases in general happen on RareSpace, with the understanding that research on all these diseases could lead to cures for other genetic disorders as well. Articles on translational research and discussions of possible cures for diseases can be found on RareSpace. A major benefit is that medical professionals will answer questions posed by site users about treatment, best practices and how to best help these children and their families. Users will create profiles and have the opportunity to upload documents and links and connect with other users all within the RareSpace portal. In addition to connecting within RareSpace, users will have the ability to create disease specific groups that can all be linked with RareSpace. This robust platform provides numerous ways to share critical information and knowledge across the rare disease community, which can be done in a safe environment that includes representation from all of the key stakeholders involved in rare disease.

This public hearing is intended to gain from health care providers, academia, industry, patients, and other interested persons their perspectives on various aspects of the development of medical products for the diagnosis, treatment, or management of rare diseases. The input from this public hearing will help inform the work of FDA’s committee for rare diseases

Jonathan Jacoby, CEO R.A.R.E Project will present case studies on therapeutic candidate generation, focusing on;

• Challenges of patient-driven R&D
• Challenges and successes with biomarker identification
• Experience with Orphan Drug Designations
• Individual investigator INDs and IND exemptions
• NIH clinical trials
• Barriers to recruitment and participation in CTs

Following the presentation, Jacoby will provide recommendations that include the importance of very small CTs as a pathway to regulatory approval. Jacoby will present this testimony from 11:40 – 12:00, June 29, 2010.

The meeting will be webcasted and any interested persons are encouraged to join:

• Dates: June 29-30, 2010
• Time: 9:00 AM to 5:00 PM ET
• Webcast addresses (will be active at the time of webcast):
  June 29 – collaboration.fda.gov
  June 30 – collaboration.fda.gov

Wrong Trousers Day is the annual fundraising event organised by the Wallace & Gromit’s Children’s Foundation. It is backed by the Academy Award-winning plasticine characters Wallace & Gromit created by Nick Park and inspired by their film The Wrong Trousers. The event is now in its 7th year as a fundraiser and has become a hugely popular community event in the United Kingdom.

The funds collected during Wrong Trousers Day will be dedicated to improving the quality of life for children in hospitals and hospices across the UK. Over the years, the Wallace & Gromit Foundation has helped to build new children’s hospitals, provide state-of-the-art equipment, create landscape gardens and family accommodation facilities and fund specialist art, play and music therapy projects. All these ensure that whilst in hospice and hospital care, children can still play, socialise and recuperate from treatment in a child friendly environment.

To register to take part and for a free fundraising pack, contact Wrong Trousers Day at info@wrongtrousersday.org or visit www.wrongtrousersday.org, where you can find competitions and downloads, including Gromit’s Grid Game and cracking quiz questions.

>>Read more at CheckOrphan blog

Picture © Aardman/Wallace & Gromit. Used with permission. All rights reserved.

Welcome to the first official “Blog for Rare.” We’re bringing people from across the world together this week in celebration of World Rare Disease Day 2010 (February 28).

This SNiPs post is a mix of web links to specific blog posts and to bloggers who have a connection to rare disease (a blog roll of sorts). The links are in no particular order (and if I’ve left anyone out, please let me know so I can add you to the mix). Please spread the word – on the web, Facebook, and Twitter (#blog4rare, #raredisease), etc.

See Bogey Grow

Forever Ella

Ring 14

Josslyn’s CB Page

Matteo FB Page

FEDER and link here.

Infertility Mom

Daily Mush

Love, Hope & Kindness

My Reason to Run

Autism Speaks

Christopher’s CB Page

Elizabeth’s Page

Face to Face

Guthy Jackson Foundation

Hopeful Parents

Fight ALD

Brave Hero

Lizzy’s Page

Fat Disorders

Hug Your Kids Today

Small Portion of Life’s Journey

Seeking Continual Change

Little Miss Hannah

Day in the Life of Luca

Madison’s Foundation

Matilda Matters

Odes of Survival

Being Bertrand

Running for Kelly

McMahon Trust

Dr. Val’s Blog (Better Health)

Dr. Rob’s Blog

Rare Disease Support

FEDER YouTube

NPC Australia

Special Needs Support

My Snugly

Marcy’s Chronicles

Downey’s Blog

Moments in the Undiagnosed World

Rare Disease Blogs (Eurordis & NORD)

Claire Bidwell Smith at Mamapedia

Julia & Maya Clark

Johan’s Blog

Sneak Peek

Always Home and Uncool

Bridget’s Post on Rare

NIH GARD

NIH Gene Reviews

Suite 101 on Jeans

Southern Belle’s CB Page

RSS/SGA Support

Charming BB

You’re invited (Facebook event, here):

By Silvia Jané:

On the 28th of February is the World Day of Rare Diseases. I propose to make a picture of the moon and hang it (there will be a full moon) in solidarity with all people with rare diseases that share the same moon that the other inhabitants of the earth. Don’t forget the name of the place from you have took the pic!

Up Next:

Happy Birthday Genome! (And here.)

Happy Birthday Blue Jeans!

Research Day

A huge thanks to all of our participants and to Lauren L. for the dog drawing (I love it).

If you have any thoughts good or bad about this blog campaign – or ideas for a next time, please post a comment here or email me at hellocatcal AT gmail DOT com. Or let any of the Children’s Rare Disease Network/Global Genes Project folks know.

Until next time,

Catherine Calhoun

Volunteer/Parent

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.

Newborn screening is a vital public health activity that is essential for preventing the devastating consequences of certain metabolic, hormonal, genetic and or functional disorders not clinically recognizable at birth. If all infants are diagnosed and treated early, serious problems including disability and even death can be averted. Disparities among states screening tests persist, which could have dire consequences for an infant diagnosed with one of these rare and extremely serious birth defects. Early diagnosis and proper treatment are essential and can make the difference between lifelong impairment and healthy development.

“With all the statistics, politics, and government budgets, it is sometimes easy to overlook what newborn screening is all about – saving lives,” says Jill Levy-Fisch, President of Save Babies Through Screening Foundation. “This show is a great education and awareness opportunity for the more than 1 million viewers that typically watch the show. We are so thankful to Scott and Renee for all of their efforts to spread awareness of newborn screening. This also means that the SBTS Newborn Screening Public Service announcement will be seen by more than 1 million viewers on Monday – wonderful!”

The Doctors TV Show produced by Phil McGraw and his son Jay McGraw, talks about health and medical issues. The Doctors is hosted by ER doctor and The Bachelor contestant Travis Lane Stork, with pediatrician Jim Sears, obstetrician/gynecologist Lisa Masterson, marriage and family therapist Tara Fields, and plastic surgeon Andrew Ordon.

Jill Levy-Fisch
jf2545@aol.com

No registration required.  Voting ends on September 22, 2009, and you can vote as often as every 4 hours.

Votes help the Children’s Rare Disease Network get to the Blogworld and New Media Conference in Las Vegas (October 15-17, 2009).  This year they have a Cause and Activism track – any time we can learn more about how to use new media to further our cause, that’s exciting!

The top 10 causes will get a free pass to the Activism track and will be featured in the eBay/Pay Pal Cause Pavilion.  The top three will also get a $500 travel voucher.

We only have a few days so please vote often and forward this link to your family and friends. Thanks!