NAME: Hannah Westley

CURRENT AGE: 13 years

HOME TOWN & COUNTY: Brighton. East Sussex. UK

DIAGNOSIS DATE: August 2017

PARENTS: Trish Westley and Terry Westley

SIBLINGS: Brother Jonathan Westley ( 15 years)

What it felt like when we learned our child has SLC6A1?

Hannah was 10 years old when she got her diagnosis of SLC6A1.

Hannah already had a number of other diagnosis before this, so for us it was helpful to understand the genetic background to help explain Hannah’s difficulties and disability.

However, it is another layer of grief to go through, to know that the condition is so rare, being a new condition with prognosis unknown, therefore making the future even more uncertain.

How did you know something was wrong?

When Hannah was born, she was very floppy.

Hannah was a very happy, contented, quiet, placid baby. She did not babble, she did play with toys or interact with other children.

Hannah was unable to sit up unaided as a 1 year old, we had to prop her up with cushions.

At 1 years old I remember Hannah did not like the sensation of weight baring on her feet, when bounced on a lap, she would pull her legs and feet up so they would not touch the surface, whereas most babies of that age would push off with their feet, Hannah did the opposite.

Hannah crawled in a very strange way, at the time I wondered if she had a hip problem.

At 13 months Hannah began to have episodes of eye rolling.

This started slowly at first , then escalated to non stop eye rolling.

Following EEG tests it was confirmed that Hannah had a very unusual EEG reading. It was confirmed she was having epilepsy seizures and was put on medication.

Hannah walked at 18 months, but she often fell over, it is possible she was having brief drop seizures. Hannah had tremors.

Hannah had global delay in all her milestones, including speech.

Hannah has learning difficulties, and was also diagnosed with autism in 2017.

The hardest part of being an SLC6A1 family?

Isolation. Not being able to easily do the things other families can do or access.

At present our biggest challenge is relating to anxiety related behaviours.

What are your dreams for Hannah?

Simply that Hannah would have a happy, healthy, fulfilled life, with friends.

Why would you like people to donate to Arthur’s Quest?

Gene replacement therapy is an incredible advance in genetic and scientific research. This comes at great financial cost. There is a window of opportunity that must not be missed. Fundraising is our only hope to see breakthrough for our children and those children with similar genetic conditions.