4 minute read
A Rare Syndrome, A Team Approach
Aspen Schuelke was born March 1, 2022, in Jackson, Michigan, 40 miles west of Ann Arbor. Right away, doctors had several concerns, especially about her eyes. Aspen’s eyes appeared small and cloudy. Her intraocular pressure (IOP) was very high, which had caused protruding scar tissue to develop on her right eye.
Less than 12 hours after her birth, Aspen was transferred to U-M C.S. Mott Children’s Hospital. There, she would be cared for by a multidisciplinary team, including a number of experts from Kellogg.
Her Kellogg team would eventually include childhood glaucoma specialist Adam Jacobson, M.D., pediatric retina specialist Cagri Besirli, M.D., Ph.D., cornea specialist Shahzad Mian, M.D., and ophthalmic genetics specialist Lev Prasov, M.D., Ph.D.
“Along with severe corneal issues and glaucoma, Aspen was diagnosed with aniridia, a disorder that results in eyes without irises,” explains Dr. Jacobson. “Her other doctors identified additional issues, including trouble taking nourishment, poor muscle tone, and a heart defect.”
Dr. Jacobson wondered if one syndrome might be behind Aspen’s many medical challenges. “One clue pointing to a genetic explanation is that her mother has anterior segment dysgenesis, or ASD,” he says. In ASD, the tissue in the front of the eye does not develop normally, increasing the risk of glaucoma and cataracts. “Allison has a relatively mild form of glaucoma, which has been monitored here at Kellogg for years.”
He consulted with Dr. Prasov, who evaluated daughter and mother in the Kellogg Multidisciplinary Ophthalmic Genetics Clinic (MOGC) together with the pediatric genetics team of Dr. Amanda Pritchard, M.D., and genetic counselor Adelyn Beil, M.S., CGC, M.P.H. Genetic testing identified that both carry a mutation in the gene FOXC1. “Aspen has a form of ASD associated with FOXC1 called Axenfeld-Rieger Syndrome,” explains Dr. Prasov. “Allison, who had never had genetic testing before, was found to carry the same FOXC1 variant, but in her case it has far less impact.”
While the genetic evaluation proceeded, the immediate challenge was stabilizing Aspen’s IOP. “Patients with this type of glaucoma do not tend to respond well to medications, and often require surgical intervention,” says Dr. Jacobson. “We first attempted to insert tubes to lower the pressure, but in such small, underdeveloped eyes, there was no room to safely place them. We instead performed a laser procedure, which has successfully kept the intraocular pressure controlled.”
In her first months of life, Aspen underwent multiple exams under anesthesia so that the team could monitor her IOP, the condition of her retinas, and the progressive scarring on her corneas. By the spring of 2023, the group was debating whether Aspen should receive a cornea transplant.
“There’s a difficult risk/reward calculation when considering cornea transplantation for a child,” explains Dr. Mian. “On top of the general risks of surgery under anesthesia, corneal grafts are more likely to fail or be rejected in young patients.
“Those risks need to be balanced with the potential benefit to the child’s vision,” he continues. “When a clouded cornea blocks light from entering the retina, the visual pathways between the retina and the brain don’t develop properly. Delay the transplant too long, and you may miss the window for improving vision.”
In June 2023, after extensive consultation with the care team and Aspen’s parents, Dr. Mian operated on Aspen’s right eye, removing the enlarged, opaque cornea with the lens embedded in it, and transplanting a new cornea.
“While we understood the risks, we really advocated for the procedure,” says Allison Schuelke. “To give Aspen the best possible chance at vision, we need her developing brain to receive as much visual input as possible.”
“Providing the complex care Aspen needs is truly a team effort,” says Dr. Mian, “and Aspen’s mom and dad have been essential members of the team from day one.”
There is a long road ahead for Aspen and her family. In addition to monitoring her IOP, which may one day require additional surgery, a procedure is being planned on the right eye to further reduce the scarring under the cornea of the right eye. If possible, the left eye may eventually receive a cornea transplant.
As Team Aspen at Kellogg addresses the ocular aspects of Aspen’s Axenfeld-Rieger Syndrome, Team Aspen at Mott continues to tackle the systemic challenges of the syndrome. Not yet two years old, Aspen has already endured countless specialty clinic evaluations, therapies and procedures to improve her cardiovascular, digestive and musculoskeletal health.
Nonetheless, at the Schuelke home, there is plenty of room for optimism. “We’ve noticed small improvements in Aspen’s vision,” Allison says. “She seems to track things better, especially black and white or high contrast objects. More importantly, she continues to thrive. She’s a loving, lovable, happy-go-lucky baby, who inspires us every day.
