A mother has revealed that her baby girl was born with severe glaucoma, cataracts, no irises and has developed a “bubble-like” bulge on her eyeball.

Aspen Schuelke was born in March, and doctors immediately noticed that her eyes had a “cloudy” appearance. Five days later, some of the infant’s conditions were confirmed, including aniridia — an eye disorder that means she was born without irises.

After months of testing, in September, she was diagnosed with Axenfeld-Rieger Syndrome (ARS), a rare genetic condition affecting the eyes and other parts of the body, which can leave children with little to no vision.

Aspen has already undergone several procedures during the first year of her life to relieve pressure in her eyes caused by glaucoma, address her cataracts and attempt a cornea transplant.

Due to the severe pressure on her eyes from glaucoma at birth, she has also developed a protruding scar that resembles a “blown-up balloon”.

Despite her health challenges, the baby’s mother, Allison Schuelke, 25, says her brave daughter 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 challenges 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, and at that point, the family had no idea she would face any health challenges.

Allison recalled: “I was filled with fear of the unknown when doctors told me something wasn’t right. I was scared about what was happening with her and what it would mean for our family.”

Doctors confirmed the various diagnoses to Allison and her husband, Michael, 33, shortly after the procedure.

Allison, an inpatient rehabilitation technician, said: “[The doctor] said she was the second most severe case he had ever seen and that her vision outlook wasn’t good.

“I felt so defeated, as I also have glaucoma and immediately blamed myself.”

Alongside her eye conditions, doctors also discovered a hole in Aspen’s heart. She later developed difficulties digesting food, resulting in a feeding tube being fitted in August.

To date, the child has had 20 hospital admissions for her various conditions, with further procedures ahead, including a cornea transplant planned for June, which aims to address 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 the air out, the balloon is left stretched out with white scarring. At first, seeing the bubble-like scar was frightening, but she’s still our precious baby girl.

“The first question we usually get when people meet Aspen is, ‘What happened to her eyes?’ I simply explain that she was born with a rare eye condition and describe how it affects her.”

As for Aspen’s future, Allison explained that “treatment is challenging because there is no cure — only ways to improve her quality of life.”

“We hope the transplant works and that she can have eyes that look more typical, along with a better chance of seeing,” she said. “But I worry that the surgery might not go ahead again, although her scarring is not expected to get worse. We have a second-opinion team ready if the surgery cannot be completed.”

ARS has also contributed to low muscle tone, and Aspen is yet to roll over or sit up without assistance.

But despite everything she has faced, the sweet little girl continues to thrive.

As Aspen and her parents continue to navigate her health challenges, Allison has turned to TikTok to share videos of her daughter and answer frequently asked questions about her condition, including explaining that tears do come out when Aspen cries and that she does not believe her daughter is in pain.

Allison said: “I decided to share Aspen’s story online to raise awareness of eye conditions. I feel it’s important to help others understand that they are not alone.”

Source: independent.co.uk