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.