family profile
Annabelle’s Story
This is Annabelle, who is 12 years old.
When Annabelle was born, we had no idea that anything was wrong. When Annabelle was 14 months old, we had our first introduction to the world we now live in. Our introduction was Annabelle having 24 tonic-clonic seizures in just over 24 hours. After that, it took us until she was 17 months old to find out that she had a global developmental delay. Then, at 22 months, we received a diagnosis of autism and epilepsy for Annabelle.
Whilst her progress was slow, Annabelle learnt to run, climb, self-feed, and play with blocks and puzzles.
She went ten months seizure-free when she was nearly three years of age. She was doing so well that our neurologist suggested taking her off her anti epileptic medication.
“after researching STXBP1, I was left with more questions than answers”
Our world was about to change again with a major regression at the age of four. Annabelle first had a cognitive regression where she lost the ability to self-feed and play with toys as she lost her hand function. At that time, she started to slowly physically regress and began walking with a gait.
I kept asking the neurologist if her diagnosis was more than autism and epilepsy, but he ignored my questions. I continued to nag, and he sent us to a neurosurgeon who diagnosed Annabelle, after a 25-minute EEG and her seizure history, with Lennox-Gastaut Syndrome (LGS) when she was five years old.
We finally received the STXBP1 diagnosis when Annabelle was 7 years old. We were happy to finally get a diagnosis and hopefully get some answers to why Annabelle regressed. However, after researching STXBP1, I was left with more questions than answers.
I had continued to ask the professionals if there could be anything else causing her regression as it wasn’t documented in the research available online on STXBP1. However, after more testing, it has been confirmed that it is her type of epilepsy (LGS) and STXBP1 gene mutation that are causing the problems Annabelle faces.
Unfortunately, through her slow physical regression, Annabelle can no longer walk, is PEG fed, and needs full assistance with every aspect of her life. She is a very happy girl who loves school and being out in the community. She lives at home with her mum, dad, her older brother and sister, plus two cats, and we live in the outer suburbs of Melbourne. Annabelle’s quality of life is our number one priority, and if she is happy, then we are happy. Our hope is for more research to be done to help provide answers or treatment to the many families that are living with a loved one with STXBP1 and to help our community to understand our complex world.
