The story of Tanya
Emily was born 10 days late, weighing 10 Lb 5 oz. Everything seemed normal, until about 5 months old. She wasn’t growing very fast. We were told she had floppy baby syndrome but we brushed things off as she was fine. Fast forward to a year, we were in physiotherapy, speech and OT. Emily had hypotonia (loose muscles) and could not crawl or walk. She started bum scooting around the age of 2, and we had been for many tests and mri but everything was coming back normal. She started walking at the age of 4, and is still non verbal. We were approved for a whole exome sequencing blood test. May of 2021 we got our results, Emily has a rare gene mutation called HNRNPH2. Symptoms are developmental delays, non verbal, low muscle tone, seizures (though luckily we haven’t experienced), severe anxiety, the list goes on. But none the less Emily is the most social and happiest girl out there! There are only 130 others known in the entire world with her condition!