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This episode features a conversation with Dr. Amelle Shillington and Jacob and Ashley Wiley after Shillington diagnosed the extremely rare genetic disease that's afflicted Aislynn Wiley, and only 69 other documented cases worldwide.
In this hallmark episode, Ashley and Jacob Wiley shared the story of how they rushed their 15-month old daughter Aislynn to Cincinnati Children's Hospital Medical Center in January, where Amelle Shillington, MD, is a clinical geneticist.
The child was admitted to the emergency deparment (ED) while unconscious, due to extremely low blood sugar. After various tests and examinations, Shillington solved the mystery of Aislynn's diagnosis and explained the methods that led her to the diagnosis of TANGO2-related metabolic encephalopathy and arrhythmias.
The rare genetic disorder is only documented in 70 cases worldwide, and is caused by variants in the TANGO2 gene. Individuals with the condition can experience episodes of acute illness called metabolic crises, which is what Aislynn was experiencing.
Jacob shared the moment that he knew something was was seriously wrong when he went to lift his daughter out of her crib and she was completely limp.
"It's hard to say it sometimes, but, the way I explained to the doctors is, if I had to imagine what it felt like to pick up my dead daughter, that's exactly what it felt like that day," he said.
"One of the other things that actually is a big issue for kids who have this disorder, this TANGO2 diagnosis, is arrhythmias of the heart. And, so kids who come in can have arrhythmias that can be deadly," Shillington explained. "And once we knew that, this is what we were working with, we were paying very close attention to her heart, having the electrophysiology cardiologists weigh in, having those medications available right at her bedside, watching her heart very closely."
Currently, Aislynn is back home with her family, where they're adjusting to a "new normal" according to Ashley. Due to the brain damage Aislynn suffered during the crisis, she's had to start relearning how to do almost everything.
"We are hopeful that she makes improvements, and today she is starting to move her head a little bit more, she's starting to kind of track you when you're getting close to her. Nothing huge," Ashley explained, "but any, like, little thing she does is a pretty big improvement to us."
Because of the rarity of the disease, the Wiley's don't know what the future holds for Aislynn. And even though Aislynn's case is the first TANGO2 diagnosis at Cincinnati Children's Hospital Medical Center, Shillington explained that she and her team were able to implement a plan for her care when they reached the diagnosis.
"At the time, there was 30 cases, published in the literature," Shillington said. "Since that time, and since we've connected with the experts, they have now about 70 cases, which still makes it pretty rare. But, the people who have this diagnosis really want to know, learn as much as they can and share as much as they can, because they want to help their kids."
The TANGO2 gene is responsible for optimizing mitochondrial energy. So, when Shillington and her colleagues, including a team from Texas Children's Hospital, were presented with an unconscious Aislynn, their working diagnosis was to view it as a "primary or secondary mitochondrial disorder in some ways."
"There are other mitochondrial disorders, and there are other kind of inborn errors of metabolism of fatty acid oxidation" she explained. "That's another category of disorders, and so, those look kind of similar where kids come and they're metabolically down."
After the diagnosis, the providers continued with their plan of care but were finally able to trace it to the specific disrupted gene. However, because there's not a comprehensive understanding of exactly what the gene does, a team at Baylor is investigating it further, Shillington said.
"Because if we understand exactly what's wrong with the energy metabolism that might help us treat it better," she said.
The Wiley's are calling for support for the TANGO2 Research Foundation in hopes of progressing treatment and therapies that will help patients and their families.
“Our goal is to raise 1 million dollars for the TANGO2 research foundation" Ashley stated. "We understand that sounds like a lot of money, but our idea is that if we could reach 1 million people and they each donated just $1, we could reach out goal.”