A mother has revealed her baby was born with extreme glaucoma, cataracts, no irises and has developed a “bubble-like” protrusion on her eyeball.
Aspen Schuelke was born in March 2022 and doctors immediately noticed her eyes had a “cloudy” appearance. Five days later, some of the infant’s diagnoses were confirmed, including aniridia – an eye disorder that causes her to have no iris.
After months of testing, in September she was confirmed to have Axenfeld-Rieger Syndrome (ARS), a rare genetic disease affecting the eyes as well as other parts of the body, and leaving the child with little to no vision.
Aspen has already undergone several surgeries in the first year of her life to drain the pressure on her eye caused by the glaucoma, and to try and counteract the cataracts, as well as an attempted cornea transplant.
Due to the severe pressure on her eyes at birth from glaucoma, she has also developed a protruding scar “like a blown-up balloon”.
Despite her health challenges, the baby’s mother Allison Schuelke, 25, says brave Aspen is thriving.
“She’s happy-go-lucky and as healthy as she can be, all things considered, so it’s amazing watching her thrive after the challenge she has overcome,” Allison, from Jackson, Michigan, told NeedToKnow.online. “She’s so strong and has definitely made us stronger.”
The baby arrived via C-section on 1 March 2022, at which point the family had no idea she would have any health issues.
Allison recalled: “I had a lot of fear of the unknown when doctors told me something wasn’t right. I was scared of what was going on with her, and what it would mean for our family.”
Doctors confirmed the various diagnoses to Allison and husband Michael, 33, shortly after surgery.
Allison, an inpatient rehab technician, said: “[The doctor] said she was the second worst case he had ever seen and that vision prognosis wasn’t good.
“I felt so defeated as I myself have glaucoma and immediately placed blame on myself.”
As well as her eye conditions, doctors also found a hole in Aspen’s heart and she later developed issues digesting food, resulting in a gastronomy tube being fitted in August.
To date, the child has undergone 20 hospital admissions for her various conditions and has more in her future, including a cornea transplant in June, which aims to remove the scar.
Allison said: “The scar is similar to when you blow up a balloon and put too much air in it – when you let out the air, the balloon is left stretched out with white scarring. At first it was scary to see the bubble scar, but she’s still our precious baby girl.
“The typical first question we get [when people meet Aspen] is ‘what happened to her eyes?’ I just explain that she was born with a rare eye disorder, and how it affects her.”
As for Aspen’s future, Allison noted that “treatment is hard as there isn’t a cure – only ways to improve her quality of life.”
“We hope for Aspen that the transplant works and she’s able to have more normal looking eyes – and have a better chance at vision,” she said. “But I am worried surgery won’t be completed again – although her scarring will not get worse. We have a second opinion team lined up if the surgery isn’t completed.”
Having ARS has also led to low muscle tone, and Aspen is yet to roll over or sit up unassisted.
But despite all of her challenges, the sweet tot is “thriving”.
As Aspen and her parents continue to confront the health challenges, Allison has taken to TikTok to share videos of her daughter, and answer regularly asked questions about her condition, including confirming that tears do come out when Aspen cries, and confirming that she doesn’t believe she is in pain.
Allison said: “I decided to share Aspen’s story online to help bring more awareness to eye conditions. I feel it’s important to help others know they aren’t alone.”
