SLC13A5 Epilepsy affects not just individuals, but friends and families as well. The following perspective, as told by Amber, mom to TESS Superhero Rowan, aims to give insight into what it might be like to love and care for someone with SLC13A5 Epilepsy.
I was so ready to be a mom. To have a tiny human I could watch become whoever they were going to be. To watch them make friends, go to school, play sports (even though my husband and I, Michael, we are SO not sports people), fall in love, and give big hugs. I was so ready to be a mom.
I knew becoming a mom would teach me a lot of things, but I didn’t think that being brave was one of them. Maybe that is naive, but it wasn’t a feeling that I remember having.
Rowan, our almost 3-year-old, blue eyed, blonde curly-haired son, made me brave from the moment the pediatrician walked into our recovery room in June of 2021 and said, “he is having seizures, a transport team is coming to take him to the local children’s hospital” and then promptly left the room. I had to be brave as I walked down the hallway to the neonatal nursery and saw my tiny human sedated, covered in wires, being meticulously tended to by the transport team from McMaster hospital. I was brave when they gave me this tiny fabric heart to rub on my body to place on his body so he could smell me on the way to the hospital. I was brave when they said, “go home and shower, do not follow us, pack your bags and meet us at the NICU when you’re ready”. I was brave when we pulled into our condo parking lot and I saw all of the streamers and signs from family welcoming us home, even though we weren’t coming home with Rowan. I was brave when I walked into the NICU without Michael because it was 2021 and we were still in the middle of pandemic protocols. I was brave when I asked, “how serious is this?” and I was brave when the doctor told me “Your son is having seizures that are lasting 2-4 minutes, every 2-4 minutes, and we don’t know if this is life long, life limiting, or life ending.
This was my first child, and I was having to have this conversation within the first days of his life. What was happening.
I walked an average of 12,000 steps everyday while constantly coming/going to the hospital from the Ronald McDonald House while Michael and I traded off visiting times with Rowan. I had no time to recover from childbirth. I couldn’t even hold Rowan because he was so medically fragile at first. I cannot describe the feeling you have when you are not allowed to hold your new, very sick baby. It is unimaginable and I hope you never have to experience it. He was heavily sedated, and we would be lucky if we saw his tiny toes move. This was not the postpartum journey I had envisioned. Rowan was in the hospital for around 2 weeks initially and once the seizures were under control, and after running more tests than I can remember, they determined it was likely a genetic cause. Since he was stable and genetic testing results would take months, we were sent home. Only to return 3 days later. Our midwives came to do a checkup on Rowan when we got home and when they arrived, they took his oxygen levels and said, “do you want to call the ambulance, or would you like us to?” We were immediately back at McMaster hospital for another 2 weeks as Rowan battled a lot of breathing issues and started having more seizures. We eventually left the hospital with him on 3 anti-seizure medications. In October of 2021, after an insane few months and numerous 911 calls because of seizures that would not stop, Rowan received the genetic diagnosis of SLC13A5 Epilepsy.
We quickly googled SLC13A5 Epilepsy and found TESS Research Foundation. We found our community. We found understanding. We found our home. Michael and I are both now deeply involved members of the TESS community. We have had the pleasure of meeting other families to share our wins and losses with them. We found people to be brave with us as we navigate this often cruel disorder. I am truly grateful that this organization existed and that everyone was so so welcoming. It is inspiring to see a network of families and researchers working together to try and find a treatment for our superheroes. It brings us all hope. Especially on those hard days.
Today, I am still brave as we balance being parents and caregivers to Rowan. Rowan receives physiotherapy, occupational therapy, speech and language therapy, and myofunctional oral therapy daily from Michael and I and from professionals several times a month to try and get him to a place where he can be as independent as possible. His low muscle tone, a symptom of SLC13A5 Epilepsy, makes moving his body difficult. Even though he works so hard every day, he still cannot sit independently, walk, speak, or even swallow large amounts of food. This does not mean he is not strong or not verbal. He definitely wants to move and does so in the ways he can. He laughs with his whole body and will certainly let us know when he’s not so happy. Rowan has a feeding tube and that is how he receives all his nutrition and medication. He does love food though, so we give him small tastes and he is becoming very demanding for his crunchy snacks when it’s mealtime. Rowan still has seizures despite now being on 5 anti-seizure medications. Most of them are manageable but we do still have to call 911 more often than anyone should. A recent cluster of seizures lasted 5 hours. I have never been more scared. I have never had to be more brave.
I mentioned all the things I was excited for when we first found out we were having a baby. I am happy to report that I have seen Rowan make friends, make people laugh with his infectious giggles, play catch with the help of friends and family (yay sports!), explore the world (even if it is different from what we pictured), and fall in love with his family and friends. I am, however, still waiting for that hug.
Source: TESS Research Foundation
