When RARE is not so RARE!

By Nicole Boice, Founder/President, RARE Project

Did you know that there is a community of sick and disabled women, children, and men that is so large that it outnumbers all of those with cancer and AIDS combined worldwide?  Scary to think about? Can you guess what it is?

Staggering Statistics

The Rare Disease Community is made up of over 7,000 known rare diseases and over 350 million people worldwide.  Here in the US, over 35 million people are affected with the majority being our nation’s children. Disturbing? Shocking?  How about this? . . 1 in 10 Americans are affected by a rare disease or disorder, and if you take into account that approximately 3 caregivers are involved with each patient, we are talking over 1/3 of the entire US population that has been impacted daily by a rare disease.

How could a population this large go unnoticed? Is it the inherent problem facing this community that in most cases, each individual disease is so rare that it can’t garner the necessary attention or support that it so desperately needs?  What if we could bring this community together as one?  Imagine what could be accomplished together.  The RARE Project™ has developed two initiatives; The Children’s Rare Disease Network™ (CRDN) and the Global Genes Project™ (GGP) to meet the needs of this community.   CRDN is an online community that connects those impacted by rare disease, helping facilitate collaboration and knowledge sharing so that people can find the resources and care that they need most quickly. The Global Genes Project™ exists to unify, support, build awareness and raise much-needed funds for those affected by rare disease. The Global Genes Project™ campaign raises the visibility of rare diseases, engaging the general public, and garnering significant corporate support under the unifying symbol of hope ~ the blue denim ribbon.

An Underserved Community

It’s about Advocacy! Of the over 7,000 rare diseases it is estimated that well under 50% have organized foundations to support families, advocate, or fund research.  A very real problem exists because millions of families are left on their own, truly orphans within the system. Of the 7,000 rare diseases over 80% are considered ultra-orphan, meaning that each disease impacts less than 6,000 people worldwide. Having small disease communities poses many obvious problems – connections/networking, education, advocacy, ability to impact research, to name a few. RARE Project™ is working with many partner organizations to help provide support for those that don’t currently have any, and collaborate with those organizations that currently exist. Together, we are making this community much stronger.

It’s about Research and Treatments! It’s been 25 years since the passing of the Orphan Drug Act. Since then, just over 350 treatments have been developed for the over 7,000 known rare diseases. PhRMA estimates that there are 450+ drugs in late stage development in the pipeline for rare diseases. Is that enough? Will they come to fruition? Will they be completed fast enough to help these children stay alive? We don’t know for sure.  However, what we do know is that there is a new group of advocates, researchers and organizations that are innovating, with the singular goal of helping individuals find a diagnosis, develop drugs that help those affected ‘within their lifetime’ and are taking it upon themselves to advocate relentlessly for their children and those affected by all rare diseases.

People, Organizations and Projects to watch for:

Chris and Hugh Hempel, Addi and Cassie Fund for Neimann Pick C

The Hempels are working on developing a new treatment to deliver cyclodextrin directly into the brains of their identical twin daughters affected by Niemann Pick C. They have partnered with industry, using a Medtronic SynchroMed implantable pump system.  The twins’ doctors at Children’s Hospital Oakland have FDA approval, because of efforts by the Hempels, to treat the twins with this non toxic sugar compound. To get a full understanding of this work:



Debra Miller, CureDuchenne

CureDuchenne’s vision is its name…to find treatments and a cure for Duchenne, the most common and lethal muscle disease in children. CureDuchenne’s mission is to raise public awareness of Duchenne and raise funds to support the most innovative, leading edge research that will extend and improve the lives of children living with this disease and the generations to follow. www.cureduchenne.org

Victoria Jackson of Guthy-Jackson Charitable Foundation

“A Rare Approach to a Rare Disease” is the mantra of The Guthy-Jackson Charitable Foundation in its work to find a cure for Neuromyelitis Optica (NMO). Researchers are connecting in new ways to find answers to this disease — which is often initially misdiagnosed as MS. “NMO has a known biomarker that provides an opportunity to not only define and solve this disease, but also bring us closer to understanding MS and all autoimmune diseases,” said Dr. Michael Yeaman, Professor of Medicine, UCLA.  www.guthyjacksonfoundation.org

The RARE Fund™ – a RARE Project™ initiative

The RARE Fund™ is a unique first-of-it’s kind fundraising platform being developed to raise money exclusively for rare disease research. Money will be raised to fund and support ‘in their lifetime’ research in two ways: crowdsourced/micro-donation website and corporate cause marketing support. The beta launch is planned for late 2011 with the full launch expected in early 2012.  www.rareproject.org

Lisa Moreno-Dickinson, StopCAIDNow

Lisa Moreno-Dickinson is helping build awareness for childhood autoinflammatory diseases (CAID), creating tools to better educate physicians about this category of diseases and working to fund researchers who are committed to finding a CURE for CAID.  She is working on unique and innovative programs to benefit her community and has created tremendous traction in a very short period of time – a true out of the box thinker.  www.stopcaidnow.org

Dr. Emil Kakkis, CEO of Ultragenyx

Ultragenyx will be a top tier innovation engine driving the transformation of existing science into great medicine for untreated rare diseases.  Ultragenyx has  very  aggressive goals for the organization and a big commitment to many affected by rare disease – that of ten (10) therapies/treatments in ten (10) years. www.ultragenyx.com

Work by people and organizations like those mentioned above are moving the needle for this community in need. Innovation, Compassion and Vigilance are what it takes to create success and this community has it.

What needs to be done.  How you can help!

Rare Project™ is working to bring together all rare disease stakeholders, unifying and building a community of equipped and empowered advocates.  How can you help? – spread the word, talk about it, recognize it.  www.rareproject.org.  More tangibly, help connect the community, support rare disease advocacy organizations in their quest, and help ensure that organizations like RARE can continue to make a broader impact for those affected.  It takes a village!  Please contact RARE Project with your stories, your research and innovative programs. Innovation@rareproject.org

Call to action

  • Facebook – Join the discussion and support the campaign www.facebook.com/globalgenesproject and http://www.facebook.com/raredisease
  • Website – Join the community and be kept up to date on RARE news, activities and announcements.  www.rareproject.org
  • Get involved in your community – become a Local Leader™, host a ‘Wear That You Care’™ fundraiser, help educate about the prevalence of rare disease and highlight/feature a specific disease/disorder, donate, help find corporate support.

**Original article from BIOtechNOW