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After six intense years of fighting against an unknown disease that burst into Joaquin's life at three years of age, and performing all the necessary exams to identify the disease and failing in each of them, Joaquin was diagnosed in March of 2017 through Rare Genomics’ philanthropic program iHope with Illumina.
Read MoreThe Scientist, May 2018 Issue | By Jim Daley | May 1, 2018 : Researchers at the Rare Genomics Institute look at how families finance the cost of diagnostic exome sequencing.
It was a parent who first approached Romina Ortiz, the COO and vice president of patient advocacy at the Rare Genomics Institute (RGI), about crowdfunding. The mother of Maya Nieder, a developmentally disabled 4-year-old, was looking for a way to raise money for her daughter’s whole-exome sequencing, which reveals the intricacies of protein-coding genes (see “Answers in the Exome” here).
Ortiz had cofounded the nonprofit in 2011 to connect physicians, researchers, and rare-disease patients to laboratories that could conduct diagnostic genome sequencing, and to help scientists in those labs find funding. It wasn’t easy at first.
“We by no means were experts at raising funds, so we really wanted to see how else we could help our [patients’] families,” says Ortiz.
In 2012, the RGI managed to raise $3,550 through crowdfunding to sequence Nieder’s exome. The genetic results revealed that the child had a mutation in a single gene that researchers thought was responsible for her disorder. The finding was the first example of a crowdfunded gene discovery.
Has your insurance company refused to cover the cost of your genetic sequencing or other medical expenses related to your child’s rare disease? The Rare Genomics Institute has been referring qualifying families to the First Hand Foundation, a public charity that provides funding for individual children with health needs when insurance and other financial resources have been exhausted.
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An estimated 250 million people worldwide are suffering from a rare disease.
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Disclaimer: RG connects patients to research institutions and assists with logistics and fundraising, but we cannot provide medical advice. Please consult your physician if you have any medical questions or call 911 in an emergency situation.
