Emily’s Story

Emily undergoing tests“When Emily started having epileptic spasms at 10 weeks of age we were told that she had severely abnormal brain activity but the neurologists couldn’t tell us why.

She had all the tests and scans available and genetic testing for the genes known to cause epilepsy syndromes. All came back negative.

The impact of Emily’s condition became more apparent as she missed milestones and medications failed to give us full control of her seizures.

We got a diagnosis last year through the Deciphering Developmental Disorders study. She has a de novo genetic mutation on the GNAO1 gene. It hasn’t changed Emily’s treatment or told us more about a prognosis, but it does give us that final piece of the jigsaw and it feels like a weight has been lifted.

We now have our reason for her difficulties and it gives us peace of mind. To date this gene change is very rare but our involvement in the project adds to researchers’ knowledge and will only help other families facing the same situation in the future.”

Find out more about how you can get involved here