Print Bookmark Email

Isabelle: Thriving with Septo-Optic Dysplasia



Listen to Iabelle's story:

Casey Taylor had a normal pregnancy and uneventful delivery. When her baby daughter, Isabelle, was a few days old she developed feeding problems, including constant spitting and vomiting. Isabelle’s pediatrician believed she had acid reflux and put her on medication.  During one of the follow-ups, however, her pediatrician noticed that Isabelle had abnormal eye movements and ordered an MRI.

The MRI findings were quite dismal: Isabelle’s optic nerves had not developed, she was missing the language center in her brain and she had an underdeveloped pituitary gland, the body’s master gland. The Taylors were sent to the Johns Hopkins Children’s Center emergency department, where they met pediatric endocrinologist Dr. Chris Romero. 

Dr. Romero walked the Taylors through the possible scenarios and patiently explained the steps and testing that lied ahead.

Dr. Romero gave the Taylors the final diagnosis, septo-optic dysplasia — a disorder so rare, the Taylors’ primary care pediatrician had to look it up. The condition has also been featured on Discovery Health’s “Mystery Diagnosis,” which Casey’s mother-in-law was watching one night when she realized the mystery disorder featured on the show was the exact same condition  her own granddaughter had been just diagnosed with.

Children who are diagnosed late are at high risk for severe developmental delays, but early diagnosis and prompt treatment with hormonal supplements and physical, feeding and speech therapy can vastly improve outcomes.

Fortunately, Isabelle was diagnosed unusually early, which her parents believe, has resulted in greatly improved outcomes. So much so that Isabelle has defied everyone’s expectations. 

Isabelle was not expected to talk or walk. Today, this vibrant 6-year-old does both. She didn’t start walking until she was 3, but now she jumps and runs. Because of her absent language center, Isabelle was not expected to talk. She does, and even though her speech is somewhat garbled, her parents understand her. Isabelle can also write her own name and recognizes letters and words. She has no vision in her left eye, but has some vision in her right eye. 

“We’re really fortunate that we live in Baltimore where we have doctors who can diagnose, who understand this condition and can treat it so well. Her outcome is the result of who she is and of being at the right place surrounded by the right people,” Casey says. 

“The initial news was really devastating, but focusing on Isabelle’s positive attributes and celebrating every accomplishment has made all the difference,” Casey adds.