This guest post was written by Ana Sanfilippo, VP of Global Strategy at Rare Genomics Institute.
For years, Maya Nieder suffered from severe developmental delays, including difficulty communicating and hearing loss. She endured multiple operations and countless tests before exome sequencing revealed a mutation in her genes that had never been seen before. For Maya and her family, the power of sequencing her DNA found an answer and ended a four year search for the cause of her medical illnesses. Maya was the world’s first crowdfunded gene discovery innovated through Rare Genomics Institute. Now her parents know the cause, and they can stop searching.
Cutting-Edge Technology for Rare Diseases
In the past 5 years, genomic sequencing has become a powerful tool to help patients with rare diseases. There are over 7,000 rare diseases affecting over 300 million people around the world. Even with the best doctors, the nature of rare diseases is that they are very difficult to diagnose. These patients spend years – sometimes over a decade – on a diagnostic odyssey, searching to uncover the hidden cause behind their illnesses. Genomic sequencing offers the most advanced testing available today, giving these patients a new sense of hope and faith.
Though this latest technology may provide a life-changing course for families living with rare diseases, it is often not covered by insurance, leaving many to remain undiagnosed and still searching.
Searching for a Diagnosis
Ria is 5 years old, but has yet to take her first step, say her first words or call for mommy or daddy. Ria was born with an extremely rare genetic condition that has yet to be diagnosed, causing her to have severe global development delays. Her parents are constantly searching for an answer for their baby girl, and genetic sequencing could provide the solution they’ve been searching for. Instead of continuing to wonder why and how, sequencing can help put Ria on the path toward a normal life. Together, Indiegogo Life and Amplify Hope can not only help her family raise the resources necessary, but change Ria’s story forever.
Diagnosing Periodic Paralysis
Dancing has always been one of Kendra Zoa’s passions, and she always shone bright despite struggling with mysterious chronic health issues for decades. One day in May 2002, Kendra experienced a major crisis that left her weak, fatigued, in constant pain and totally unable to work. Her complex condition continued to worsen, but doctors were finally able to pinpoint her ailment as periodic paralysis, a rare genetic condition that leaves her bedridden for over 22 hours per day. Periodic paralysis is caused by genetic mutations, and in 40% of cases, these mutations have not yet been discovered. Kendra’s Indiegogo Life fundraiser will help her pay for her whole-exome testing – a procedure that can change her life forever.
Amplify Hope, a new Rare Genomics program, provides hope for families facing rare diseases who have been unable to access exome sequencing due to the high cost. Participants enrolled in the program create crowdfunding campaigns on Indiegogo Life as an alternative method of paying for the expenses that come with exome sequencing. Amplify Hope aims to determine how crowdfunding can promote scientific research to help rare disease patients. You can read more about Amplify Hope in an article published in The Chronicle of Philanthropy: Nonprofit Teaches People to Raise Money for Rare Diseases through Crowdfunding.
Solving the Mystery of Rare Diseases
All participants in the program have the same crowdfunding goal amount and 30 days to raise the money needed online. Once they raise the funds, exome sequencing of the affected individual and two family members begins. This method of trio sequencing provides the most comprehensive analysis by looking to family members as a comparison. Any additional funds raised above the goal will be used to help other undiagnosed children in need of sequencing.
Learn more about solving the mystery of rare diseases with exome sequencing and crowdfunding in this TEDxMidAtlantic talk featuring Rare Genomics president Dr. Jimmy Lin and patient Robert Stone. Robert was undiagnosed for over a decade, but through Rare Genomics’ efforts and the crowdfunding campaign that provided the funds for sequencing, Robert was finally diagnosed with Dystonia 16. He is the ninth person to ever be reported to have this rare syndrome.
Help us inspire and Amplify Hope – join us as we support these rare campaigns. For Maya and Robert, sequencing has made a profound impact not just on their lives, but their families, their doctors, researchers and the rare disease community as a whole. Their results will aid as a footprint in the medical knowledge of these new gene discoveries.
How will these new gene discoveries impact other diseases, both rare and common? With your help, we can give hope and possibly change the course of the lives of so many families living with rare diseases. Together, we can make a difference.
Do you know anyone who needs help raising money for medical expenses? Our new medical fundraising page is designed for doctors, patients, friends and family.
Indiegogo Life is now Generosity by Indiegogo: the only socially conscious fundraising platform that’s free, fast, and open, giving individuals and organizations the power to improve lives everywhere. Find out more about Generosity at www.generosity.com.