Mother's Intuition Leads To One In a Million Rare Diagnosis
It was in her daughter’s darkest moments that Taylor Rogers clung to hope. A diagnosis of less than one in a million; she knew life would be hard, but tiny three-year-old Rubye continues to bring great joy to their lives.
From the moment she was born, Taylor knew there was something different about Rubye. She immediately noticed her dark eyes consistently avoided direct light. While this isn’t completely uncommon for newborns, Taylor knew this was different from her older daughter.
“I was born with crossed eyes, so I’ve always paid really close attention to my daughters’ eyes to make sure they weren’t turning in,” Taylor said. “I started to notice that she wouldn’t open her eyes at all unless the light was directly covered. I remember when I was in the hospital with her, I noticed if I blocked the light behind my head that she would open her eyes a little bit. It was interesting because no one else caught onto this so I just kept looking at her eyes.”
Rubye went home with her family but quickly developed an eye infection, to which Taylor brought her to their family doctor. Taylor asked the nurse if she could tell what Rubye’s eye color was, and was told it was difficult to tell due to how dilated her eyes were, but the outer portion looked blue.
Taylor’s intuition knew something wasn’t right. Rubye’s eye had a slight tremor and she was extremely small for her age. Taylor began to diligently search for an answer that would make sense.
“I finally looked up no irises or lack of irises, and I found aniridia,” Taylor explained. “I was in the car with my husband and I just started crying. He asked me what was wrong and I just said, ‘I think I know what’s wrong with Rubye.’”
Aniridia is an eye disorder known for causing many eye conditions. For Rubye, she has no depth perception, no detail vision, nystagmus, small optic nerve, lack of the colored part of the eye and others. People with aniridia may have a slight color around the pupil, while others do not, and many experience sensitivity to light and blindness.
After finding this information, Taylor emailed Rubye’s pediatrician and asked them to research aniridia before her upcoming one-month appointment. Rubye was diagnosed with aniridia at this appointment.
Once they received her diagnosis of aniridia, Rubye was scheduled for an ultrasound of her abdomen to check for Wilms tumors, which are more likely to occur with this diagnosis. While her scans at this time were clear, Rubye was sent to Cook Children’s Genetics Center to test for WAGR syndrome, an extremely rare syndrome found in less than 500 people world-wide that encompasses Wilms tumors, aniridia, genitourinary anomalies, and ranges of developmental delays.
“Other kids with WAGR have intellectual delays, some kids don’t speak, some don’t see at all, and some have different physical and mental delays,” Taylor said. “From what we can tell, Rubye couldn’t see until she was about six months old.”
Rubye routinely sees multiple specialists at Cook Children’s to ensure she is making progress, but also receives cancer surveillance appointments due to how quickly Wilms tumors can occur.
“She has to get routine scans every few months, and there’s a build up to those appointments because bad news could be coming. But then we get the scans and everything looks good, and it’s a huge relief. However, then you only get a few months and the cycle starts over,” Blake Palmer, M.D., medical director of Cook Children’s Urology, said. “Every time I walk in the room to read results, everyone is just holding their breath. And, when everything looks good, that night will always be great for everyone. But, then tomorrow is another day where there is another worry. It’s so hard.”
Rubye’s routine three-month scans proved to be a necessary intervention when her results showed a mass on one of her kidneys on September 28, 2020. At this point, she began chemo and had a partial nephrectomy of her right kidney.
Since March 2021, Rubye has finished chemotherapy, and graduated from physical therapy, occupational therapy, and her speech therapies. She will begin seeing an endocrinologist due to how small she is, and will continue to have close monitoring for more Wilms tumors.
“It’s hard to know what this will mean for her and her future. Some of the missing genes can cause problems with severe developmental delay, how her body processes proteins and many other possibilities, but I know God is walking right beside me because he has made Rubye so unique and special and has given me the honor of being her mom,” Taylor said. “She is what keeps me positive day-to-day. She has defied so many odds that have been placed in front of her and that’s what keeps me going.”
Rubye’s psychologist, Cortney Wolfe-Christensen, Ph.D., is confident that Taylor’s advocacy will provide a way for Rubye to continue to beat the odds and overcome the struggles that often accompany WAGR syndrome.
“Rubye's mom has been her biggest advocate throughout this journey. She has navigated Rubye's path through Cook Children's by communicating well with providers and has always been open to learning new information, even when there was a chance the news could be devastating,” Wolfe-Christensen said. “I am confident that with her mom by her side, Rubye will grow up to reach her fullest potential. As clinicians, we are all thankful that we have been able to be part of Rubye's story."
Taylor and her family continue to watch Rubye defy statistics and odds through all of the pivotal moments that she steadily overcomes.
“I once had a friend tell me she celebrates the ‘inchstones.' For our little zebras, which is what individuals with rare diagnoses are often called, they may just make inchstones, but we will celebrate each of those, because they’re a sign of forward growth,” Taylor said.
What is W.A.G.R. Syndrome?
WAGR syndrome is a rare genetic syndrome that is estimated to occur from one in 500,000 to one in 1,000,000 births.
• Wilm’s tumor - Wilms tumor is a type of kidney cancer that is primarily found in children.
• Aniridia - Absence of the iris, typically in both eyes. Aniridia can cause sensitivity to light and additional eye problems such as glaucoma and cataracts.
• Genitourinary Tract Abnormalities
• Range of Developmental Delays - People with WAGR may have intellectual disability, delays in Gross Motor development, delays in Fine Motor development and delayed speech.
About Cook Children's Genetics Center
Cook Children's offers one of the largest pediatric genetics centers in the United States, providing both clinical and metabolic genetics evaluation, testing, treatment and counseling. The doctors and medical team work closely with you, your child and your family to help you understand your child's specific genetic disorder and treatment plan. The team can also assist you with referrals to community resource services, should the need arise.