A Day in the Life of a Family Living with SLC13A5 – Vattikuti Family

Prasad and Anu are the parents of Sanjitha, their daughter, and Abhinav, their son, both of whom have SLC13A5.

By 6:00 am, we start the process of getting our kids ready for school. We help them go to the restroom and brush their hair. They like to pick out their own clothes, so we help them put on what they choose.

For breakfast, we help them eat and take their medicine. One of our kids loves Indian food while the other loves American food. After they’ve eaten, we take them over to each of their school buses.

Both come back home by 4 pm, which is when they do home therapy. Each of our kids receives 1 hour of activity, and each of us takes care of a kid for that hour.

When they’re done, we cook dinner, helping them to eat and giving them their third dose of their daily medicines. The schools give them their second dose, along with their lunch. Afterwards, we usually watch an Indian movie or listen to a kids’ songs together, and that gives our kids a chance to play and dance around some. They both go to bed by 9 pm.

Before 2013, children with SLC13A5 were put in the undiagnosed disease group. As one of the first families in the TESS Foundation group to receive a diagnosis, we had been waiting around 7 years. The doctor told us that there was another family with a child that might be like ours, saying that they had found a gene, tested by GeneDx. Because of that we were able to track down Tessa in the NIH and found that she was exhibiting similar symptoms to Sanjitha and Abhinav. That was when SLC13A5 was officially discovered.

We were relieved to find out, because before that we had felt clueless. Our family didn’t know what the root cause was and it really troubled us. We had traveled to the Mayo Clinic, the Cleveland Clinic and to India, searching for a diagnosis.

Some of the most difficult parts of SLC13A5 Deficiency are the finances required to take care our children’s needs, and the challenges of being caregivers day-to-day. We’re worried about what will happen after we’re gone, since there won’t be people to take care of them. Because of their medical conditions, we don’t feel that we could go back to India, and America still feels foreign. Through the TESS Foundation, we hope that we can connect with more families from Europe and Asia.

In some ways, we’re kind of like any other family, working hard, day-to-day. It makes me happy to hear them call me Dad, or when they give me hugs and kisses. There was one time that we had to call 911 and the paramedic service came to our house, and as they were putting the medication through an IV, my kid started laughing at the sounds that the machines were making; I guess it sounded like a toy. Because of that, the thing I remember most from that experience was a big smile, and the sense of gratitude that we were all here, together.

The TESS community kind of feels like my family; in a way, we’re all literally genetically connected, through the SLC13A5 gene. After meeting Kim Nye and the TESS Foundation, we feel more hopeful. We’re looking into gene therapy and we hope to find a solution. Because of the Foundation, we think that people will think more about SLC13A5, and that more progress will be made.

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.