CURRENT AGE: 13
HOME TOWN & STATE: Brighton, East Sussex, UK
DIAGNOSIS DATE: August 2017
PARENTS: Trish and Terry
SIBLINGS: Jonathan, brother (15 years old)
What it felt like when we learned our child has SLC6A1? Hannah was 10 years old when she received her SLC6A1 diagnosis. Hannah already had a number of other diagnoses before this, so for us it was helpful to understand the genetic background. Finally, we could explain Hannah’s difficulties and disability. However, we absolutely experienced another layer of grief at this point. To know that SLC6A1 is so rare and has an unknown prognosis, we felt that her future was even more uncertain.
How did you know something was wrong? When Hannah was born, she was very floppy… but also happy, contented, and quiet. She did not babble, play with toys, or interact with other children. Hannah was unable to sit up unaided as she neared her first birthday, so we had to prop her up with cushions.
At a year old, we remember Hannah did not like the sensation of weight bearing on her feet. When bounced on a lap, she would pull her legs and feet up so they would not touch the surface. Most babies of that age would push off with their feet, but Hannah did the opposite. She also crawled in a very strange way, and at the time we wondered if she had a hip problem.
Hannah began to have episodes of eye rolling right after her first birthday. This started slowly at first, then escalated to non-stop eye rolling. Testing confirmed that Hannah had a very unusual EEG reading. Doctors determined she was experiencing epileptic seizures and was put on medication for such. Hannah walked at 18 months, but she often fell over. It is possible she was having brief drop seizures. She also experienced tremors and was delayed in every milestone, including speech. After experiencing learning difficulties, she was also diagnosed with autism in 2017.
The hardest part of being an SLC6A1 family? The isolation… and not being able to easily do the things other families can do or access what they can access. At present, our biggest challenge is relating to anxiety related behaviours in our precious daughter.
What are your dreams for Hannah? We simply hope that Hannah can have a happy, healthy, and fulfilling life, surrounded by friends and loved ones.
Why would you like people to donate to SLC6A1 Connect? Gene replacement therapy is an incredible advance in genetic and scientific research, but it comes at financial cost. There is a window of opportunity here that must not be missed. There is an urgency to fundraise to see breakthrough for our children….