Emma was a medical mystery for almost 8 years. Appointment after appointment, yielded very little answers. MRI’s came back normal. When she was 3 we met with genetics and the geneticist basically looked at us and told us nothing was wrong. We were extremely discouraged by this and at a loss. It took almost 5 years for us to get back into genetics. Luckily, we had some other amazing medical providers who gently prompted us to go back. We finally did in 2022 and within weeks, had an answer from her whole genome sequencing. Our dragonfly was diagnosed officially with CTNNB1 on November 11, 2022, 1 month shy of her 8th birthday. She is so happy and has the best imagination. She loves donkeys, bees, and goats. She brings so much light and joy to our family.
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