Wilder loves Pixar short films. One of her favorites is Bao. It’s about a dumpling that springs to life. It’s about relationships. It’s about acceptance and letting go. It’s cute, sweet, touching, and funny.
Margaret Rose Wilder Rushin Miller is five years old. Her mother Lindsay believes Wilder loves Pixar shorts because they tend to have no dialogue. The stories are told through action mixed with the magic of animation.
Spend a little time around Wilder, and you might perceive that she does not use much dialogue either. Not because she doesn’t understand language. Her receptive comprehension is on the level of a 12-year-old’s. It’s because she has an extremely rare genetic disorder called KAT6A.
Wilder is the only child of Lindsay Miller and Nat Rushin. Lindsay is an architect and interior designer, and Nat works in construction.
Early on in Lindsay’s pregnancy, the first ultrasound determined that the fluid at the base of the baby’s neck—the nuchal fold—was thickened. This is generally an indicator of a genetic issue, such as Down syndrome.
Lindsay, Nat, and their medical team did a lot of tracking after that, with more ultrasounds and prenatal genetic screening. “They were quite concerned that something was extremely different about her,” says Lindsay. “But we didn’t find anything. Everything was forming very well.”
Lindsay’s pregnancy was stressful, but she and Nat held onto their goal of making sure the baby “would survive birth and thrive in life.”
Labor lasted 44 hours. After three failed vacuum attempts to pull the baby out, Lindsay was rushed into surgery for a cesarean procedure.
Wilder emerged with her body signaling that she was crying, but there was no sound. She was placed in the neonatal intensive care unit, primarily because the vacuum procedure had created subgaleal hemorrhaging—that is, bleeding between the skin and skull bone. The danger of this kind of hemorrhage is not brain damage but blood loss.
After four days in NICU, Wilder was stable enough to come home. But she had a difficult time eating, whether out of a bottle or breastfeeding. “There was no latching. There was no coordination in her mouth,” says Lindsay. Even with the help of a lactation consultant, “it was so clear that there was something else that just wasn't working here.”
There were sleeping issues too. Wilder could only sleep if she were upright. So every night, Nat would help position and secure Lindsay, surrounding her with “fool-proof” pillows so Wilder could sleep upright without risk of falling off of Lindsay who would doze as she could.
Adding to Lindsay’s stress was the lack of support from some medical professionals who would dismiss her concerns with comments like, ”Oh, all babies have colic.” Lindsay was reaching a point of desperation.
So one night, when 4-week-old Wilder had a mild temperature, Lindsay decided to take her to the emergency room. “I didn’t really think she had a temperature. I think she was bundled up. But I’m desperate because no one will take me seriously.” That night, CHOA and Egleston did.
The medical team ran several routine tests and acknowledged Wilder’s coordination issue. They put in a feeding tube and admitted her to the hospital. They ran more tests, including a spinal tap to rule out meningitis. The doctors admitted they couldn’t find out what was going on then, but Lindsay recognizes this time as “the beginning of our journey. The beginning of the rest of our lives.”
There were speech pathology sessions for feeding and coordination. There were swallow studies that revealed pneumonia from aspiration of milk into the lungs. There was a team of specialists—GI, pulmonary, ENT—who worked with Wilder from that first night at four weeks.
The day before Wilder’s first birthday, those specialists took her into exploratory surgery, scoping her entire system—ears, trachea, esophagus, lungs—and discovered a laryngeal cleft. Essentially, Wilder had an opening between the trachea (leading to her lung), and her esophagus (leading to her stomach.)
“They did a temporary fix to try to train the body to bypass the cleft on its own,” says Lindsay. “We did a lot of feeding therapy. And it worked. We thought we had the answer.” Until six or eight months later when Wilder started aspirating again.
Meanwhile, Lindsay and Nat were juggling their job schedules with an intense slate of therapy appointments for Wilder. And always in the back of Lindsay’s mind was the question—did the traumatic birth and hemorrhaging cause brain damage? But no one would schedule an MRI for Wilder because she was functioning—just not at her best, according to her mother.
MRIs for children that young are not taken lightly, and Wilder had already been under general anesthesia for her exploratory surgery. “But something was clearly different her entire life up to this point. I wanted to know for sure.”
Because Wilder was aspirating again, she was put through yet another swallow study. This time, the esophagus malfunctioned in a way that signaled to the specialist and to Lindsay: “She’s aspirating because of brain function. This is really dangerous.”
Finally—all of Wilder’s specialists called for an MRI. It didn’t show brain damage, but it did show significant developmental delays.
The medical swirl continued. Does Wilder have autism? Get her into ABA therapy. Does she have Rhett syndrome, a genetic disorder tied to autism? Let’s do some testing.
In the midst of a global pandemic, the family started on a path with Emory Genetics where a geneticist told them, “Autistic children don’t have the symptoms your daughter has. I can whole-heartedly say I think we’re going to find a genetic disorder.”
The first chromosomal test looked normal. Then they did a more comprehensive exome study that examines every single protein-producing gene to see if they are producing proteins typically.
That’s when they found the one protein on one gene that Wilder is not producing correctly. “It’s causing all of her symptoms,” says Lindsay. The gene is called KAT6A. The disorder is KAT6A syndrome, also named for the scientists who discovered it: Arboleda-Tham Syndrome. KAT6A is considered a genovo gene mutation, meaning it happens spontaneously in utero. It isn’t hereditary.
When Wilder was diagnosed in 2020, she was one of 150 people in the whole world known to have KAT6A syndrome. “With that statistic comes a real lack of knowledge around the disorder,” says Lindsay, “and a lack of funding of research because millions of people are not carrying it.”
Today, Wilder is one of 350 diagnosed people in the world. As the extensive—and expensive—genetic testing becomes more accessible to more people, this number will likely continue to grow exponentially.
KAT6A syndrome can present differently in different people. According to the KAT6 Foundation, common traits include developmental delays, speech and language deficits, feeding difficulties, acid reflux, vision problems, and heart defects. Less common traits include seizure disorders, autism, and sensory issues.
Some experts have told Lindsay that “Wilder might be the mildest case ever documented.” But the diagnosis has given Lindsay and Nat a jumping off point as they navigate this new world with their daughter. Wilder has about twelve words that she uses but is otherwise non-speaking. That doesn’t mean she’s not aware of what people are saying. She hears and observes everything. At home, she uses sounds as if she were speaking in sentences. Lindsay has developed an almost telepathic mode of communicating with Wilder. She understands everything Wilder says and asks, even if she has to pause for a moment to figure it out.
Lindsay grew up in Atlanta right off of Ponce. She went to high school at Paideia, just down the road from the Frazer Center. When she was 24, her mother passed away, and the family held her memorial at Cator Woolford Gardens. So when Wilder was given a slot in Frazer’s Georgia Lottery Pre-K, “it just felt right,” Lindsay says. “We get to say hi to my mother in spirit every time we drive Wilder to school. Crossing through the gardens every morning and afternoon is pretty special for us.”
Having an Inclusion Coach at Frazer is a gift too. Beyond coordinating therapist appointments while Wilder is at Frazer, Denise Amos “has been our point person that I can ask any question of at any point during the day, and know she’s going to listen and take my concerns to heart.”
Since being at Frazer, Lindsay has seen Wilder’s confidence and independence grow. “Frazer Center has given her the environment to be herself and exist. The teachers try to integrate lessons without being Wilder-specific, about how people are different, that we all have different perspectives.”
When Wilder first arrived, she developed a bond with her teacher, Jamie Greenwood. “At first, Jamie didn’t quite know how to interact with her or what Wilder was trying to say. But she was always very open to learning from Wilder too. She loved Wilder, and I trusted Jamie fully.”
This year, Wilder is in class with teachers Tess Connor and Annabelle Adams. “They are wonderful. They are really great about asking questions. They want her to be able to fully participate in class and get the most out of the year.”
Tess says that when “Wilder notices she has something in common with someone, she grabs their hand and runs off to play. She loves the swings and finds it very funny to worry her teachers because she swings so high.”
That sense of humor may be one of Wilder’s super powers. She loves to play jokes on her parents. She imitates physical comedy that she sees in her favorite movies, especially from Pixar. So when Lindsay recently attended a KAT6 conference and discovered that “a draw to slapstick comedy” can be a common trait in people with KAT6, it made perfect sense to her. “Not everyone is drawn to slapstick. I think it’s because it has a level of sophistication in its goofiness. There’s something about it that’s just really smart. That’s what makes it so funny.”
Lindsay says that Wilder “knows that she’s different.” Not every child has therapists that come into the classroom, or a talking device to help with communicating. Not every child’s mother speaks for them when they meet a new friend at the swimming pool. As Wilder grows and stretches her limits, she is making it crystal clear to Lindsay that she wants to try to navigate these waters on her own. She doesn’t want Mama talking for her. She just wants to grab her new friend’s hand and jump into the pool.
“Her differences are magical to us,” says Lindsay. “It’s just been a gift to us to have her as a kid. And also the hardest thing ever.”
It’s not clear to Lindsay whether or not Wilder will ever be completely independent from her and Nat. But she hopes for Wilder to have “some form of independence and acceptance. I hope she goes through high school. I would love for her to have a job and find fulfillment that comes from contributing to society in that way. And friendships and fully supportive people around her.”
She also hopes that Wilder will be able to tell her own story one day, however she may choose to express it. “I think she could contribute a lot in the world that I know right now. I hope that she gets to, and that she’s valued, wherever she lands.”
For now, we are so grateful that Wilder has landed at Frazer Center.
For more information about KAT6A, visit the KAT6 Foundation.