“
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. — Allison Schuelke
Aspen with her mother Allison Schuelke
Helping Baby Aspen: 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 2
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.
