NAME: Paxton Lawrence McDonnell
CURRENT AGE: 3
HOME TOWN & STATE: Lake St. Louis, MO
DIAGNOSIS DATE: July 2019
PARENTS: Aaron and Kari McDonnell
SIBLINGS: Hendrix (5) and Jovi (3 – twin)
What it felt like when we learned our child has SLC6A1?
When our pediatric neurologist first gave us the results of our son Paxton’s genetic test during an office visit, I felt some relief that we now had an answer and could move forward with a treatment plan. However, before we left, our neurologist told us, “once you leave my office, and research this disease, you will be more of an expert on his condition that I ever will be.” My heart immediately sank. He told us how rare this disease was and the best thing for us to do would be to find other families who shared this mutation to get support. Our neurologist made it pretty clear that he could work on treating my son’s epilepsy, but beyond that he didn’t know what the future would look like for Paxton or our family.
How did you know something was wrong?
I knew something was wrong with Paxton from a very early age after watching his twin sister far surpass him in milestone after milestone. When Paxton was 9 months old, our pediatrician referred us to Missouri’s early childhood intervention program. Although, over the years, he always made progress in his therapy and never regressed, I still felt as though something was just not quite right. Call it a mother’s instinct. He began experiencing bizarre twitching and I started to wonder if he had the beginning stages of Tourette’s syndrome. But there were other odd symptoms as well, such as being incredibly clumsy. He would sit on the floor to play with a toy and fall over. When he started walking, he would walk right into walls. We had his eyesight tested twice by optometrists and they told us he had perfect vision. He was labeled as a sensory kid as a way to explain these symptoms. Last fall, we took him to see a pediatric neurologist and they ruled out autism, cerebral palsy, and Tourette’s syndrome. However, after months of watching Paxton experience these strange symptoms at random times without cause (coupled with frequent pediatrician and neurologist calls)… I had enough. I wanted extensive testing performed and set up a neurology appointment. In March 2018, while waiting for this appointment, Paxton spiked a fever one morning and his body began suddenly going limp- he fell to the ground. He had 17 such drop seizures within 2 hours that morning. Our pediatrician pre-admitted us into the emergency room and we learned from an EEG that his brain would not stop seizing. Paxton was hospitalized for 3 days, and fortunately he was put on an epilepsy medication reduce the seizures- but we don’t know how long this medication will be effective. Our neurologist suggested we perform a DNA genetic panel; we learned about SLC6A1 when we received the results from this test.
The hardest part of being an SLC6A1 family?
The rarity of this disease is daunting. I am glad that through SLC6A1 Connect I have been able to connect with other families. However, understanding the high cost of the cure- and that it is still outside of our reach- is absolutely overwhelming.
What are your dreams for Paxton?
More than anything, we want our Paxton to be happy, safe, and able to reach the highest level of potential that he can.
Why would you like people to donate to SLC6A1 Connect?
Through this non-profit there is hope that our children will be cured. Knowing that there is a team of doctors and scientists that are currently working to create a gene replacement therapy gives me immense hope that one day my child WILL reach his full potential without the gene mutation stunting his development. Please join our cause!