Maureen Grover and her husband, Hans, have three children, Landon, Brayden, and Alaina. Both Brayden and Alaina have SLC13A5 Deficiency, and the severe epilepsy and developmental delays that come with that. Here is a glimpse of a day in the life of a family living with SLC13A5.
During the summer, my husband and I wake up every morning around 7:30-8:00 am. We give Brayden (11 years old) and Alaina (8) their breakfast and medicine. Then Alaina receives breathing treatments to help with her hypotonia and recurring pneumonia.
In the afternoon, we give them their medicine with their lunch. Brayden also has to watch Spongebob or the world will end (lol), while Alaina is just happy as long as we hang out with her. We might barbecue and put Brayden in the pool, and then we give them more medicine with dinner, putting the two to bed around 7:30-8:00 pm.
The 7-1-7 have become cornerstones of our day, as we have to deliver their medicines within an hour of these times. Alaina hasn’t had pneumonia since they started their breathing treatments, so those seem to be helping a lot. We have so many machines in our house that it sort of looks like a hospital room.
Brayden wasn’t diagnosed with SLC13A5 until he was 8, around 2013. Before that, we went everywhere to find answers. Brayden and Alaina’s symptoms and development are not exactly the same, so we didn’t have a clear box of symptoms to treat or diagnose. Looking back, it’s all become a blur of imaging, testing, and trips to Boston Children’s for genome testing.
The diagnosis itself was bittersweet. There was the relief in finally knowing, but it was also upsetting to learn that there was no cure or proven treatment.
Knowing of other terrifying diseases in which there’s regression, the prognosis we received was, in some ways, not as bad as I had feared. Even so, having children with these kinds of diseases is terrifying. I don’t talk about this much, but when you have kids like our kids, there’s always the fear of how long you have with them. Seeing kids like ours in their 20s does give me hope.
I’m afraid of losing our kids early. I’m afraid that there’ll be nobody to care for them later on, if we aren’t there. We have our eldest, Landon, who would never want anything to happen to his brother or sister. But it’s hard to tell someone who is just starting his life that he needs to be responsible for two special needs adults.
My children don’t talk, so I’m afraid that someone could hurt them, and I just wouldn’t know because they couldn’t tell me. We’ve learned to trust their caretakers, but it takes time to build that trust. I know that no one loves them like my family does.
Since the diagnosis, we now have people working on their disorder. Before that, we were just treating the symptoms and hoping that someday there would be a specific treatment.
Brayden is different now after being diagnosed and receiving treatment. Alaina is still like a baby, but Brayden can stand now and recently took a step on his own! It almost feels like he is just missing something. Like we just need to get it somehow and then he will be okay. He is so close to being able to stand and walk like other kids. Whether by science or by his will alone, I have hope that he’ll be able to do so much in the future.
Being a part of the SLC13A5 community means having people who know what you’re going through, having people who have shared your experiences. Even though other parents may listen, they still don’t fully understand.
You have all of these plans for your children and you kind of mourn for those futures that you imagined. Other parents will look at you as though you’re selfish, like “You should just be grateful that you still have your child.” But I still imagined something for my children, and I grieve that loss.
As is the case with rare diseases, I’ll give people this long gene name–SLC13A5– and they’re usually like, “What’s that?” When I went to an epilepsy group meeting, everyone felt bad for me and sort of made me feel like we were their worst case scenario. That was the opposite of what I was looking for!
Having a community is so important. I post in the private SLC13A5 Family Facebook group to get people talking and because it feels like a family to me, where people truly understand our journey. I’m so grateful for all of you in our TESS community.