A Family’s Journey: The Kitchens

Mollie and Tyler Kitchens’ daughter Emma was 3 months old when she had her first seizure—at least the first noticeable one. She was actually 6 weeks old when she started experiencing what’s known as infantile spasms, but Mollie and Tyler had no frame of reference to identify them as anything out of the ordinary. But at 3 months, they rushed Emma to the hospital where she was diagnosed with epilepsy. They were told it could be a one-time fluke or something she could grow out of. There was no concrete answer as to why the seizure happened. They would just have to wait and see.

Three to four months passed before the seizures returned, this time with more frequency, often up to five times a day. Emma had been in a daycare program that the Kitchens really liked until finances dictated that they find a new place. Meanwhile, the seizures kept building in intensity and the doctors were slow to find answers. Emma continued to miss milestones, and eventually she was diagnosed with microcephaly. This was during the Zika virus panic, but it turned out that the microcephaly was a result of the seizures as they restricted the flow of oxygen to the brain. The Kitchens were already feeling so broken when their new daycare center asked them not to return. “It was a gut punch to us,” Mollie recalls. “They gave up on her.”

Both Mollie and Tyler work fulltime and need both the income and the insurance for Emma’s medical bills. They were really at a loss as to what to do next before someone from their first daycare center recommended the Frazer Center. They applied and were put on a waiting list. The more research the Kitchens did the more they were convinced that Frazer was the right place for Emma. The wait was a tough one, but they pieced together enough care for Emma so that whenever Frazer called, they’d be ready to jump.

The wait continued as did the seizures. By the time Emma was 2 years old, she had experienced thousands. With each seizure, the lack of oxygen would put her in a state of developmental regression. Finally, the doctors found an official diagnosis—Emma has a genetic mutation that’s so rare it doesn’t even have a name yet. The gene is called SMC1A, and this particular mutation has been found in only 40 people worldwide. Emma is the only person in Georgia on record with it. There may be other occurrences, but the screening for it is so expensive in the US that insurance doesn’t cover it. With the diagnosis came the news that Emma would most likely never walk or talk, nor would she develop the mental capacity beyond that of a toddler.

The Kitchens were still reeling from the diagnosis when the call from Frazer came. “It was one of the best days of my whole life,” says Mollie. One week before starting at Frazer, Emma had her most intense seizure to date followed by a large regression. The family was taking it day-by-day, hour-by-hour, afraid that Emma would be asked to leave school again.

Emma is now 3 years old, and she has only had only a handful of seizure cycles since she started coming to Frazer. Without the seizures, she’s been able to make a lot of progress in her development. The Kitchens are convinced that the structure and stimulation Emma gets at Frazer is a major factor in how well she is doing. Her teachers work with her therapist so that there’s no gap in her care. “Even if one of us was at home fulltime, she wouldn’t be getting what she gets at Frazer,” says Mollie.

Inclusion has been a key component in Emma’s progress as well. “We knew one thing we had going for us was that Emma learned so much from other kids. She tries to mimic them. She loves coming in and seeing all her classmates,” says Mollie. And her classmates love to greet her in the morning. They help her walk, and on the playground they love to push her in the swing or pull the tricycle for her. “I think it’s a testament to the Frazer Center that neurotypical kids get an understanding of compassion and empathy. I don’t know if their parents know how much it means to us that their kids are so awesome.”

Emma is involved in a couple of clinical studies involving SMC1A. The Kitchens are hopeful that progress will be made in this field, if not in their lifetime then for the benefit of future generations. For now, they are thrilled to celebrate Emma’s achievements as they happen, whether that’s hearing that Emma picked up a cracker, chewed and swallowed it all on her own, or seeing her dance with a partner at the Sweethearts’ Ball. “Frazer Center has given us a lot more celebrations. Emma comes home a happy kid,” and that allows Mollie and Tyler to breathe a little easier. They now take things week-by-week and month-by-month. Through it all, they still say they “wouldn’t change it for anything” because having Emma has made them better people.

Emma touches the hearts of everyone she meets, and that’s a gift to us all.