Shouts and cries of joy ring out as the Shepler children run around the playground at Ellicott Creek Park in the Town of Tonawanda: 9 year-old Jackson a pensive 4th grader, with a propensity for singing and science, 7-year-old Marian a precocious little girl with bouncing pigtails and a personality to match, 5-year-old Vincent, whose innate kindness shines through his bashful smile, and their little brother, Sebastian.
We first caught up with the Sheplers in June on a sunny day at the end of the school year. All of the children were excited to talk about their day and an upcoming trip to Washington D.C. And while they were anxious to see the sites, the trip was also a quest for answers.
While the children played nearby, we sat down with Amanda at one of the picnic tables. The mother of four has a young face, but a wisdom well beyond her years. “In the hospital, we thought that Sebastian looked different than the other kids,” said Amanda. “I mean, he’s the 4th, but every kid is different right, but he looked like himself, that’s what my mother kept saying, he looks like himself.”
But in the back of her mind, Amanda knew there was something different about her baby boy. “In the three months doctor’s appointment, we started asking, because he wasn’t smiling, and he should be smiling then and probably laughing and he wasn’t doing that either. He was just over a year before he laughed,” said Amanda.
That’s hard to imagine when you see Sebastian today, with the tow-haired toddler quick to flash his infectious smile and give you a hug. But when Sebastian wasn’t progressing Amanda knew she needed insight from the experts. Sebastian soon started working with a physical therapist.
“Our physical therapist, after 20 minutes with Sebastian said, you really need to take him to the developmental clinic and have him assessed, that’s the next step for you,” said Amanda.
That next step took them to Women and Children’s Hospital of Buffalo, where Sebastian underwent genetic testing. The testing would offer a diagnosis, but few answers.
"I would like them to have more than an article about Zebra fish."
It was last December when Sebastian was officially diagnosed with AUTS2 Syndrome, or Autism Susceptibility Candidate Two gene.
AUTS2 was only officially identified in 2013, with only a few dozen confirmed cases across the globe. Sebastian’s genetic makeup is missing information on his 7th chromosome. It’s a condition that comes with a host of health problems, developmental delays and potential birth defects.
And while there was finally a diagnosis for the Shepler’s, not much information was available which spurred a new set of questions for the close-knit family. In fact, limited research articles about mice and zebrafish were all Amanda could find.
“When you’re told your baby has a thing, you know you have this test, this big test, it came back with a result and you have a name now you can go after it and you read an article about zebra fish and then you read an article about mice and you're like, what the heck," said Amanda.
That’s when Amanda’s determination took over and during our meeting she told us point blank, “because when parents get a diagnosis, I would like them to have more than an article about Zebra fish."
Amanda researched and launched a Facebook group devoted to uniting AUTS2 families from across the globe. And while her efforts created an essential support network, it wasn’t at the heart of what was needed. "The research needs to be official and back that up, it can't just be the anecdotal parents say this - they need to document it so it can be added to the list," said Amanda.
That research has put Amanda and her baby boy on an incredible journey, one that took them to the National Institutes of Health in Bethesda, Maryland in early July.
We met up with Amanda outside the vast complex as their visit was wrapping up. Amanda approached us, beaming, but it wasn’t because of the intense July heat. “The whole thing is very overwhelming,” Amanda said right away. Testing was comprehensive, including blood-work, x-rays and cardiograms, Sebastian’s big brother, Jackson, even helped with the testing. Amanda said, “It’s been a really great experience, I hope we can make a difference.”
Amanda also received news during that visit that reduced her to tears. Sebastian communicates not through words, but through melody. His lack of words had impacted his IQ score up to that point. But, the NIH found if they didn’t factor in language, Sebastian falls within normal IQ range. “With his IQ he could be, he can live independently, he can have success. And that’s not something we thought was going to be a possibility for him. So it’s wonderful to know,” said Amanda as she brushed away her tears of joy.
Since our very first meeting in a sun-washed playground, Amanda has maintained that Sebastian will not be defined by his condition but that he will define it. And standing with her more than a month later, we can see her fire is only continuing to grow. “We’re going to do everything we can,” said Amanda, “And Sebastian’s future is bright. It’s bright.”