No-one knew what ASXL3 was – so now we are helping researchers

Hannah’s mum said having a child with an extremely rare genetic condition was hard, because most people know nothing about it.

”You don't really know if what you’re doing is correct,” she said. “But it’s been 100% worth it because she is absolutely fantastic.”

The mother and daughter are both looking forward to finding out more about the condition from experts in the US.

Lesley is keen to find out as much as she can about how it will continue to affect Hannah.

Experts at the Baltimore conference will encourage dialogue between science and medicine specialists across the world and with patients and families.

Dr Emily Woods, of Sheffield University and Sheffield Children’s Hospital, who has treated Hannah, will present a paper on her one-year study of 50 families with ASXL3 disorders across the world.

Lesley is keen to have Hannah involved in future research studies.

She said: “Anything we can do to help them further their knowledge and understanding of the ASXL3 condition is going to be amazing and getting to know the other families and find out their experiences and challenges as well.”

The conference will include workshops on sufferers’ behaviour, and in particular, Lesley and Hannah want help with sleep. A big issue in Hannah’s life is her struggle to sleep.

She said: “I have really bad dreams.”