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.
Crowdfunding gives hope for rare diseases
Crowdfunding helps people find financial help for rare diseases. From genomic sequencing to medical bills, online fundraising helps give people the support they need.
There are a few ways that crowdfunding can help:
- If you’re constantly searching for answers for your loved one then genetic sequencing could provide the solution you’ve been searching for. Instead of continuing to wonder why and how sequencing can help put your loved one on the path toward a normal life. An online fundraiser can help her family raise the funds necessary and change a life forever.
Real life example
Clara was diagnosed with a rare brain matter disease, Leukodystrophy, at the age of two. But her doctor was unsure of the specific type of Leukodystrophy. Her family and friends started the YouCaring fundraiser to raise funds for Clara to get a full genome sequencing so that they can find the right treatment.
- The price tag of medical treatment is high, even with insurance. And rare diseases often force individuals to step back from their job, resulting in lost wages. A crowdfunding campaign can help when it comes to keeping up with medical bills. It makes it easier for people to support you in a meaningful way.
Real life example
Shawna was diagnosed with a rare auto-immune disease called Scleroderma, which causes hardening of the skin. The disease began to affect her internal organs and her doctors agreed that an Autologous Stem Cell transplant would be the right course of treatment. Her partner took to crowdfunding to raise the necessary funds and successfully raised over $20,000.
Solving the mystery of rare diseases
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.
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.
For Clara and Shawni, crowdfunding helped them find financial help for their rare disease. If you or a loved one is struggling to find a diagnosis or need help paying for medical bills, start your free fundraiser today.