What it felt like when we learned our child has SLC6A1?
Confusing, scary, bewildering, worrying, overwhelming and lonely. We knew something was wrong with Arthur from very early on as we could see he was having seizures throughout the day, every day, but we were not expecting this additional, life altering diagnosis. It definitely shook our world.
How did you know something was wrong?
From the very beginning of Arthur’s life, we knew something was seriously wrong. Everyone told us he was fine, but we knew something was wrong. Lindsay thought he was having seizures from about 1 month old, and was certain by 1 year old. It took another 8 months to get an EEG to test for epilepsy, which came back positive the next day, and then several months later, we received his genetic tests back showing SLC6A1 mutation.
The hardest part of being an SLC6A1 family?
The hardest part of living this horrible disease is the unknown. The constant fight every day for the right support, striving to make progress so that he can reach his potential whilst at the same time fearing every day that he might regress, his seizures might get worse again, he may never talk, he may never ride a bike, swim alone, drive a car, dress himself, have friends, read a book…the unknown, muddled with the little we do know, is terrifying. We will do everything we can to give him his best life.
What are your dreams for Arthur?
It is our deepest desire for Arthur to experience a normal life. For him to play with friends, learn and grow, and live his life to the fullest, without fear or injury. That his seizures remain controlled, having suffered from hundreds everyday before taking medication, and that he is able to talk, and have full and meaningful conversations with others. This is something that every child deserves, and we wish this for Arthur and all of the children affected by this horrible disease.
Why would you like people to donate to Arthur’s Quest?
Gene replacement therapy is the only hope of a cure for our children, and fundraising is the only way to make this possibility a reality. The burden is entirely on families. We must work to fund this miracle treatment- for our children and everyone affected by similar genetic mutations. We have the ability to cure rare disease.