NAME: Elisabeth Tegen Furneaux (known as Beth)
CURRENT AGE: 7
HOME TOWN & STATE: Hungerford, Berkshire Uk
DIAGNOSIS DATE: April 2018
PARENTS: Annette and Pete Furneaux
SIBLINGS: Maddy (3 years) and Jago (6 years)
What it felt like when we learned our child has SLC6A1?
Everything seemed daunting; the lack of knowledge about SLC6A1 was difficult to comprehend and process. When Beth was diagnosed, no one fully understood the seriousness of her illness.
How did you know something was wrong?
We did not think there was anything seriously wrong with our little girl. Three years prior to her diagnosis, Beth had been ill with double pneumonia and sepsis. We spent almost a year in and out of hospitals as she had a very unusual complication with lung abscesses. It was during this timeframe that she experienced her first seizure. Before she turned 6, Beth only had three substantial seizures. In fact, her health was only further investigated due to a few seizures her grandfather exhibited.
The hardest part of being an SLC6A1 family?
The lack of knowledge and certainty surrounding this disease. Beth has two siblings and we do not know if they might have the same mutation. Our youngest, Maddy, experienced seizures until she was 6 months old.
What are your dreams for Elisabeth?
We just want Beth to be happy and achieve her wildest dreams.
Why would you like people to donate to SLC6A1 Connect?
It is imperative that we learn more about SLC6A1 so that our children may live a life full of wonderful experiences, love, and happiness. Everyone deserves this.