We've been there. The fear, frustration, and heartbreak of not having answers. The misdiagnoses that upend your world. The uncertainty that never goes away, even after a diagnosis.
Unfortunately, our story is not unique. Our diagnostic odyssey started in 2019, ended two years later, and included more than 12 specialists across 3 major research institutions. After exhaustive diagnostic and invasive medical testing, our daughter's whole exome sequencing identified a variant of uncertain significance (VUS) on the MED12 gene. We were in disbelief. Her presentation did not align with the disorders associated with this gene. So we scoured the literature and waited. Worrying all the while that she in fact had a progressive, terminal disease as was suggested by her MRI (mis)reading. After months of waiting, we found the article that helped give us an answer. Since then, we've worked with our genetic counselor to reclassify our daughter's variant.
Perhaps more miraculously, in scouring rare disease databases we found others with the exact same variant. And it was in those moments we knew we had to start Gene Ping. We want to help support families on their journey, give them the resources to self-advocate, and connect them with others enduring the uncertainty, isolation, and adversity that only a rare disease parent, patient, or caregiver can understand.
Mobile App
Have you or your child had whole exome or genome sequencing? Did it find a VUS:
variant of uncertain significance? Sometimes the VUS is benign and sometimes it's the
cause of your medical concerns. Often times there just aren't enough cases or
information to allow clinicians or geneticists to make a definitive diagnosis.
We've created an app to help you connect to other families like yours. Families with the same gene or gene variant finding who are looking for answers. All you need to do is sign up with an email, provide the gene name from your test results, and the gene variant if possible, and away you go. If there's a match, the app will ping you. Then you exchange contact info you feel comfortable sharing and connect with your match independently - off app - to protect your confidentiality and privacy.
The app is not just for those still waiting for a diagnosis. If you have been diagnosed with a rare single gene disorder, we are hoping to build a big enough user base to allow for meaningful connections of all kinds. And interested in sharing your data with the academic and research community? Or would like to be involved with future research opportunities? in so that you can participate. It's your data. You decide.
ImportantFind the gene and Variant on your test result
