We received our tailored rare disease report this morning. It is exactly what we needed. The results look like they will be very helpful and are more comprehensive than we have had within our own healthcare system.
We did have delays, but always received courteous responses from the team. They are providing a much-needed service, where many of us face gaps, and offering those services at a great price, so I guess there are bound to be busy periods!
I had difficulty sorting out the raw data, which was where our rare disease answers were to be found, but the rare disease report which arrived today is completely user-friendly.
This was a test for my son. I have a rare disease diagnosis which is life-threatening and autosomal dominant, but has never been a 100% certain diagnosis. My son’s results reflect broader testing and have thrown up some possible alternatives, which could have big implications for myself, my son and wider family.
I am really impressed by this service.