11 Aug Meet Cat Gasol, our TESS Communications Director
Q: What is your role at TESS Research Foundation?
I am the Communications Director for TESS. I help manage our social media accounts (Facebook, Instagram, Twitter), create content, organize events and campaigns, and try to raise awareness worldwide.
Q: How does the work you are doing have the potential to help children with SLC13A5 Epilepsy?
Most of my work centers around creating awareness, trying to help people understand what SLC13A5 Epilepsy is and why we need support and ultimately donations.
TESS Research is the only organization in the world solely dedicated to SLC13A5 Epilepsy. Kids with this disease are relying on us to help them. The beauty is that the science is there for this disease. Scientists have a potentially curative gene therapy treatment that we hope to have in clinical trials within 2 years.
These kids are sick and we want to back the best science and research that we can in order to get treatments and cures to them as soon as possible, before they die or miss the window for a somewhat normal life. By normal life, I mean being able to talk, walk or eat comfortably, and being seizure free. Basic necessities that they are robbed of from birth.
But in order to make this happen we need donations to back our research, and to get those we need to continue to create awareness.
Q: Have you learned anything through your work with TESS Research Foundation that you’d like to share?
There’s a lot that I’ve learned, but I think one thing I want to share is that time is of the essence. All donations are 100% put towards research, with the goal of funding a cure. The time is now.
As diagnostic testing becomes more available, more and more children with this diagnosis are discovered around the world. The kids are getting older, and it might be true that it’s too late for some of them, but we are hopeful that the research we are funding will improve the lives of all families affected by this disorder.
For SLC13A5 Epilepsy, it’s not a pure mystery. We know that a single gene is causing the illness. We are close and we are confident that research towards our cause will also help other causes. The types of precision medicine that TESS Research is spearheading will help pave the way for other genetic disorders.
Q: What inspires you to volunteer your time with TESS?
My inspiration is the kids and their families, including my own sister and her kids, two of whom suffer from SLC13A5 Epilepsy. The TESS Superheroes that I’ve met are all so happy and resilient somehow, but have been dealt this horrible hand of cards.
I’m currently in the final month of my pregnancy and even with a healthy pregnancy so far, there’s the typical stress and anxiety around if my baby will be okay. Unlike other disorders, SLC13A5 families don’t have time to prepare. For most families, the day the baby is born, that’s when they find out there is a problem. I can’t imagine the panic and stress from seeing their child having seizures, just hours after birth, and then being told that this will last a lifetime, that their child may never walk or talk and that although the doctors know what the disorder is, there is no cure.
Most of us just have to worry about whether the delivery will be okay: Will the baby be breech and will I need a C-section? Will I be able to breastfeed and will the baby be able to latch on? Will I need formula and which bottle is best for my baby? Which car seat or stroller will make most sense for me? None of the doctor’s appointments or classes that I have heard of or taken prepare you for “Will my baby have hundreds of seizures a day?”
Instead of dreaming about what their child might do one day—Will they be an astronaut or a doctor or a teacher?—these parents have to have nightmares—Will my kid survive another day? Will they have 200 or 300 seizures tomorrow? Instead of just thinking about sleep, feeding or diaper schedules, they have to also think about medication schedules, counting seizures, doctors appointments, ambulance trips, CPR, breathable pillows so their kids don’t suffocate while having a seizure in bed, and hiring an aide to shadow their grown child. Instead of signing up for sports camps, they have to sign up for more blood tests, EEGs, surgeries, and ambulances. The list goes on and on.
Thus, my inspiration is to help the future TESS babies and families.
We fought hard to find a genetic marker for the disease and to get SLC13A5 on genetic testing panels, so that more families could receive an early and accurate diagnosis. And we’re still fighting, fighting for the possibility that future children can live a normal life.
One day soon, a doctor is going to walk into a new mother’s hospital room and say: ‘Your child has been diagnosed with SLC13A5 Epilepsy, but there is a cure and we will administer it right away.’ That day is not far off; I’m not giving up until it is here; and that day will be thanks to you, our TESS supporters.