A Day in the Life of a Family Living with SLC13A5

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.

Different – A Memoir by Lily About Her Sister, Tessa

Hi my name is Lily and I am 11 years old. My siblings, Tessa and Colton both have SLC13A5 Deficiency, which is more commonly known as seizures. I love both my siblings and only hope for the best for them and other people like them. I wrote this memoir in my 5th grade class, and I am excited to share it as my first TESS Research blog post:

At first, it was just Tessa and I. We played with each other with our princesses and Barbie dolls like any little girl did at the age of 2 or 5. I loved my older sister and I still do, even though she is disabled. My sister Tessa was born with SLC13A5. It is more commonly known as seizures. Tessa is the most brave, sweet, and fun loving person – but sometimes people don’t see that.

Sometimes, people treated her unfairly when they came over for playdates with me. They would say, “Can we go play outside?” To get away from Tessa. Also, some girls would say, “Why does she have seizures, is something wrong with her?” People don’t seem to to understand that what matters is on the inside, not the out. Tessa on the outside is a 5 foot, 14 year old. She has short brown hair and hazel brown eyes. Of course, what people notice first is the fact that she has seizures – around 100 a day. Also, they notice that she says very few words. Some words she can say are yes, no, mama, daddy, Lily, more, all done. Tessa is a normal 14 year old trapped inside a broken and sick body. Really, she wants to be like everyone else and have fun with friends and goof around.

I love Tessa and of course I, like most people, want my siblings to have a great life and feel appreciated and loved. So, when people treat Tessa unfairly I feel sad. I feel bad that I have such an excellent life when Tessa is stuck struggling with her disabilities. I used to feel bad that I have such amazing friends and supporters and Tessa doesn’t. I used to feel embarrassed that I had a disabled sister, because she is different. Now I see that different is good! If everyone was the same then there would be no fun. Picture a world when there is the same colored houses on every street. Every house has the same flowers, trees, interior, and etc. Now think of that but instead of houses, they were people. That world would be boring and no fun. With our differences we complement each other.

Tessa has made me the person I am today. When Tessa was in kindergarten, she was learning how to read. I ended up also learning to read and I was already in 1st grade reading level in kindergarten thanks to her. Also, having 2 disabled siblings has helped make me very responsible, kind, considerate, and including. I babysit my disabled brother and I help Tessa with her homework. I make sure to give people second chances and not judge a person by his/her appearance. Not only has Tessa helped me learn all these amazing life skills, she has learned them too!

Tessa is so brave. At the age of 3 or 4 she started having more and more tonic clonic seizures (seizures that lasted a minute or more). She would ride away in the white, red, and blue ambulance with the sirens wailing and flashing blinding lights at me. She would also be brave when she took the disgusting medicine she had to take daily to keep her from having even more seizures. Not only is Tessa brave, she is also super sweet. In elementary school Tessa would bake treats like brownies, cupcakes, and rice crispies. She would then bring them home and share them with my mom and I. Also, when Tessa got a toy that my younger sister wanted she would be very nice and share the toy with Maggie. Tessa is just like any other girl. She is obsessed with YouTube and loves playing on her iPad. Sometimes Tessa and I will make slime together and she loves mixing things into it. She also loves to dance. This year she went to the Hillview dance and she had so much fun. She also likes to go to school and hang out with other disabled girls like her.

Tessa is the bravest, sweetest, prettiest, and most fun person! If only people could see her amazing heart, not her epilepsy symptoms and disabilities. I hope one day kids realize that Tessa is just as awesome as everyone else.