About a month ago I implored you to donate to The Rare Genomics Institute, which is an organization that is not trafficking in airy-fairy promises about what genomics can do for you or your executive health program or worrying about the therapeutic misconception or possible anxiety caused by return of genetic results. No, it is trying to use large-scale DNA sequencing to help families with really sick kids get diagnoses. Among those families is the Nieders, whose three-year-old daughter Maya…
…has global developmental delays of unknown origin (probably something genetic that we haven’t found yet). She’s been through a barrage of testing, but nothing has been figured out. She has a normal brain MRI, normal karyotype, normal FISH, and normal microarray. She has had 2 surgeries: her adenoids were removed, and ear tubes were inserted. Her hearing raises questions—in behavioral testing, she seems to hear normally (or close to normal), which directly contradicts a sedated ABR that said she had mild/moderate hearing loss. She can’t speak (aside from 1 or 2 words), but communicates through making sounds, using signs, gesturing, using her iPad, and using communication boards.
Six months ago, someone put the Nieders in touch with RGI and the family began to consider the prospect of getting Maya’s exome sequenced in order to end her diagnostic odyssey. Last week the family visited Yale, which would perform the sequencing. The catch: the family had to raise the $2500 necessary to pay for it.
Yesterday I got this email from RGI staffer Naira Rezende:
I think we broke some record somewhere…This weekend, we setup her fundraising site and prepared to sequence [her and her parents'] exomes. Tuesday, the patient’s mother told the world (via blog) about this effort. We raised the funds needed to sequence 3 exomes in SIX HOURS!
This is what I’m talking–and getting verklempt–about.
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