What it felt like when we learned our child has SLC6A1?
We had been looking for answers for a long time, but every test was inconclusive. Then, in the summer of 2018, our worst fears were confirmed. Mark and I were led to a sterile bad-news room at Children’s Hospital, where several doctors with solemn faces were waiting for us. Genetic testing revealed that Maxwell had a rare neurological disease called SLC6A1, and I just remember thinking it sounded like a flight number. It didn’t make sense. They said Maxwell would experience lifelong developmental disabilities, a movement disorder, and debilitating seizures. There was no known cure. We were told to prepare ourselves for the challenging road ahead. It was the darkest moment of my life. Then I made a decision: this wasn’t going to be Maxwell’s story. I was declaring war on SLC6A1 and not stopping until there was a cure.
How did you know something was wrong?
We had a natural benchmark in Maxwell’s twin sister, Riley. It was clear from early on that Maxwell wasn’t progressing at the same or even similar rate. Maxwell couldn’t seem to use his hands, he wouldn’t explore, and he struggled with milestones Riley reached easily. There was a major difference in their cognitive development.
The hardest part of being an SLC6A1 family?
Preserving Maxwell’s quality of life is our top priority, which can be challenging when days are often filled with therapy, doctor appointments, and the extra struggle of being a toddler whose neurological system is basically on fire. Our second priority has been to spearhead the development of a gene therapy treatment for SLC6A1, and raise the necessary funds to make it happen, knowing we’re in a race against time.
What are your dreams for Maxwell?
We just want him to be happy and healthy in whatever capacity that looks like for him, and to have every opportunity that children should have in this life.
Why would you like people to donate to Arthur’s Quest?
SLC6A1 is a rare disease, but our patient numbers are growing steadily. The SLC6A1 gene is associated with epilepsy, autism and schizophrenia, so the research being done and the treatment being developed can potentially have a huge impact. And because part of SLC6A1 is the development of debilitating seizures that begin between the ages of 3 and 4, for many of our children, the clock is ticking.