It was a huge relief to get a diagnosis, even if it wasn’t the news we wanted to hear.
When Hope was small, she was slightly behind on her milestones but it wasn’t until she was at primary school that her parents started to worry that she wasn’t thriving physically and academically.
“Hope started to have seizures so we were referred to a paediatrician at Royal Surrey County Hospital. They diagnosed epilepsy and then soon afterwards they discovered a mild heart murmur and learning difficulties but something still didn’t add up.”
Hope’s Mum, Jane, was busy taking her to multiple appointments with different specialists, but she still felt that no-one was connecting the conditions or looking at Hope as a whole person.
“By chance I chatted to some people who encouraged me to follow my gut instinct and ask if there was something underlying going on that could explain all of Hope’s difficulties.”
Jane went back to the paediatrician and asked for genetic testing.
Testing revealed that Hope has KBG Syndrome; a rare genetic condition that is only believed to affect a few hundred people in the world. It’s caused when the ANKRD11 gene doesn’t function properly.
The effects of this gene change vary in each person, but for Hope it is the cause of her epilepsy, learning difficulties, autistic traits and her heart murmur.
“It was a huge relief to get a diagnosis and helped to answer so many of our questions. It also helped us enormously to get Hope into a special school. Without the diagnosis, she might still have been struggling in mainstream school.”
It’s not all been plain sailing since then, as any diagnosis takes time to adjust to.
“We went through a grieving process for our daughter and the hopes and dreams that we had for her. But then life pushes you on and we celebrate all of Hope’s achievements just as much as her big brother.”
Hope is now 10 years old and her epilepsy is under control and she is enjoying life.
Jane has one final message for health professionals.
“I work in the NHS and I know how busy it can be. As a Mum, I also know how important it is to look at the whole person and not focus on the individual health issues. Maybe genetics can help you to join the dots.”