It began as a love story. High school sweethearts followed each other to college at Princeton, then launched their married lives as graduate students at Oxford. Ambition and intellect foretold advanced degrees and illustrious careers for both Zach and Kimberly Nye but life, as so often happens, intervened. With the birth of their first daughter, Tessa, Zach and Kim’s world was, proverbially, rocked.
Within 24 hours of her birth, newborn Tessa was having seizures, many of them. Although her tests displayed normal results, Tessa was clearly experiencing something extraordinary. The Nyes took their new baby home from the hospital with a veritable pharmacy of medications and adjusted to their new life as parents of a child with frequent seizures and the resulting developmental delays.
Bolstered by doctors’ belief that Tessa’s condition was either not genetic or a de novo genetic mutation—one that would be highly unlikely to occur again—the Nyes produced two more daughters: healthy, happy, completely normal little girls. The birth of their fourth child, however, brought Tessa’s condition back into sharper focus. Colton, the Nye’s beautiful little boy, began seizing within hours of his birth. Whatever hopes and dreams the Nyes might have for the future of their family would need to be adjusted to accommodate their children’s needs.
It turns out that both Tessa and Colton suffer from a rare genetic disorder that causes seizures, called SLC13A5. Children with SLC13A5 deficiency are so new to the scene that the Nye kids are among the very first to be diagnosed. Although epilepsy is quite common—1 in 26 people in the United States develops the condition (that’s one in almost every public school classroom!)—this particular form was identified only in 2014, by a team of researchers that now works with The TESS Research Foundation, a 501(c)3 founded by the Nyes and dedicated to finding a treatment for genetic disease SLC13A5.
Ironically, there is no history of epilepsy in either Kimberly’s or Zach’s family; however, with an autosomal recessive disease, the parents have one good copy of the gene and one bad copy. Both Kimberly and Zach are recessive carriers of the disease and two of their children inherited bad copies of their parents’ SLC13A5 gene, resulting in the severe neurological problems that characterize their lives.
Kimberly runs The TESS Research Foundation, with help from a cadre of talented medical researchers and dedicated family members. Kimberly expected to need to find top-tier medical experts, but having the family on her team was a welcome surprise. “I did not anticipate having a lot of family involved in TESS,” she says, “but every time I needed an expert—in finance or PR or healthcare—I realized I had the best expert in my family. My family understands firsthand how devastating this disease is and they are determined to find a cure.”
The family member who really makes The Foundation possible, however, is Kimberly’s husband, Zach, who is a financial economist and senior consultant at Stanford Consulting Group. “I’m convinced my husband is a superhero,” says Kim. “He has worked double-time so that I can be home with our children. Tessa spent her early years in and out of the hospital, often for weeks at a time. When Colton was young, it took 8 hours each day just to feed and medicate him. Somehow my husband managed to earn a Masters, a PhD, and a salary, all the while being there for me and for [the kids].”
How the Nyes manage the dance of marriage and parenthood coupled with two children with disabilities is part determination, part grace. “We are a pretty typical over-scheduled family,” says Kim. “Right now, we are in soccer season. Lily and Maggie play on Saturdays and Tessa plays in a special needs league on Sundays. There always seems to be a friend’s birthday party to attend or an extended family dinner to enjoy.” It was hard to get out when Colton was a baby, but lately, she adds, despite the daunting logistics of medications and toileting and feeding and bathing, “we are spending more and more weekends out and about as a family. Some weekends, Zach and I feel more like coworkers checking everything off the ‘To Do’ list, but I think a lot of parents with 4 young kids would have the same complaint.”
“I feel like everyone has something in life that pushes ‘pause’ on happiness” says Kimberly philosophically, “an aging parent, a marriage hurdle, money troubles. The severe form of epilepsy that Tessa and Colton have sometimes pushes pause on my family’s happiness.” She continues, “If I think too far in the future, I feel scared and panicked. They are young now, but the idea that I may still be caring for my 40-year-old daughter and 30-year old son when I am in my 60s makes me feel overwhelmed. The idea that this disease may significantly shorten their lives devastates me.”
Somehow Kimberly carries on. “I stay positive by living in the moment and by truly feeling grateful for what I do have, ” she says. “My daughter Tessa has literally hundreds of seizures daily. I try to imagine what it is like to be her. How confusing and scary it must be for her. If she can wake up each day with a positive attitude—and she does!—then I have no excuse not to stay positive.”
Still, she acknowledges, “I don’t stay positive all the time. I have days when I feel down. Days when it seems incredibly unfair to Tessa and Colton that they have to spend so much time in doctors’ offices being poked and prodded; days when it seems unfair that our family cannot just head out the door without extensive planning and all the accoutrements of illness.” And, Kimberly admits, she worries that she is short-changing her genetically normal middle children. “My girls are such good sports,” she says, “but I worry that they are not having the carefree childhood that every mom wants for her children.” But it’s Kimberly’s positive attitude that is going to see this family through. Although family vacations are currently few and far between, Kimberly says, “I am not giving up on traveling. We have great family trips in our future; I just know it.”
Kimberly’s immediate family has been a rock for her, too, and this helps boost her spirits. “My mom and sisters are truly amazing,” she says. “My love for them is fierce and unconditional. Regardless of whether I am scheming up a kid birthday party or forming The TESS Foundation, I know that they will have my back.”
Despite the neurological challenges presented by their oldest and youngest children, Kimberly and Zach experience the same moments of parental pride and frustration common to all parents. The kids fight over iPads and Legos, but they also stick up for each other. Says Kimberly, “When Tessa has a seizure, Lily and Maggie (the two middle children) will automatically jump up to support her so she doesn’t fall—even though they are smaller than she is. Colton crawls through the sprinklers with his sisters and wrestles with them in the grass. Their abilities differ but their friendship is undeniable.”
She adds, “The compassion that I see in Lily and Maggie melts my heart.” The Nye children are learning the critical life lessons of sharing, tolerance, empathy, and compassion. They’re not allowed to label, as Kimberly and Zach do not find terms like “mentally retarded” or “handicapped” very helpful. But, as Lily likes to say, “we sure do hate seizures.”
Another emotional boost comes from a little bling here and there. You’d think that with four kids, two with extremely demanding special needs, Kimberly wouldn’t have much time for girlie stuff, but you’d be wrong. “I am surrounded by sickness and determined to find a cure, but I am also a 35-year-old woman who has five sisters and likes to chat with girlfriends at school pick ups,” she says unapologetically. “I love to see what jewelry my friends are wearing. I like hearing the stories about the meaning behind pieces of jewelry like birthstones, vacation mementos, and family heirlooms. Lily and Maggie really like jewelry and Maggie just got her ears pierced. That’s a big deal in our house!”
Although Kimberly herself typically has no more than 15 minutes each day to get ready—usually with a crawling baby underfoot—she relies on jewelry to dress up or dress down her signature outfit of jeans, a trendy (“but machine washable!” she emphasizes) shirt, and flats. “I wear jewelry every day,” she says. “Regardless of whether I’m making meatloaf or swimming in the pool, I never take off my wedding ring. If I am feeling like a hot mess as I run out the door, I put on a necklace and earrings and immediately feel more put together.”
Kimberly’s latest go-to piece of jewelry is a necklace made by her second cousin, Bronwen. Bronwen Jewelry has partnered with the TESS Foundation to offer exclusive jewelry inspired by the TESS logo. All proceeds from sales of the Petals for TESS necklace directly funds the Foundation’s research and development of a cure for the SLC13A5 deficiency.
Identifying SLC13A5 as a genetic marker allows for accurate diagnoses of severe forms of epilepsy, as well as helping pinpoint the underlying problems. Simply establishing the presence of this genetic marker brings The TESS Research Foundation and other citrate transporter disease researchers one step closer to developing treatments and a cure.
In the meantime, the Nyes hope to make an impact on the wider SLC13A5 community. The Board of Directors of the TESS Foundation covers 100% of the foundation’s operating expenses; consequently, every dollar donated goes directly toward the foundation’s work of understanding SLC13A5 Deficiency and developing a cure for the disease. “Host a fundraiser: lemonade stands, a lunch with girlfriends, a round of golf,” says Kimberly. “We would love for people to help us raise awareness about this form of epilepsy.” She adds, “My kids have this disease and I hope that I can help them. But this disease is bigger than my children. We hope there will be [other] people who want to make curing this disease a part of their legacy.”
Consider making this cause part of your legacy. Read more about the Nye family’s story here and learn more about SLC13A5 here; you can also visit the TESS Foundation on Facebook.