Baby With Irregular Pupils Found to Have Rare Genetic Condition

Tom Smith, at the tender age of six months, had noticeably abnormal pupils. His mom, Lynda Smith, was sure something was wrong.

When he was two, doctors discovered what was wrong. He had Neurofibromatosis type 1 (NF1).

Tom is now ten, and the source of the pressure that causes Tom’s right eye to go blurry is still a mystery. Because his brain is unprotected by a missing section of the skull located behind the eye, a blow to the head might have devastating consequences. Tom, a remarkable and tenacious social butterfly, considers himself to be just like everyone else. However, because physicians are unsure of how his NF1 may develop with age, Lynda, 54, is worried about his future.

Lynda noticed that Tom’s right eye had an amorphous-shaped pupil compared to the perfectly round one on the left. His vision seemed to be okay, but she took him to the doctor. A potentially blinding illness characterized by increasing pressure on the eye– arrested congenital glaucoma– was ultimately found after testing and scans. Up until he was four years old, he would wake up any number of times during the night, crying out in pain.

A year after Tom’s glaucoma diagnosis, his pediatrician observed brown coffee-like “stains” over his body. Pigmented birthmarks, sometimes known as cafe au lait markings, are a prevalent symptom of NF1 and usually pose little health risk to the affected individual. The doctor sent Tom to a geneticist, but the experts there didn’t think NF1 was the cause of his problems.

The size of Tom’s eye and the right side of his face increased as he grew older. He got some relief from the pressure on his eye after an emergency operation when he was six years old. But months later, he was brought back into the theater. They had to undergo the second procedure as a follow-up since the previous one didn’t work. His eyes are now monitored for that fluctuating pressure on a six-monthly basis.

Tom is also affected by sphenoid wing dysplasia, a condition in which the bone connecting the eye to the brain is absent. This condition affects around five to ten percent of people with NF1. While Tom’s NF1 has caused no additional physical problems, it has made his coordination issues much worse. 

Lynda is collaborating with the Children’s Tumour Foundation to collect funds for critical research into NF1. Last month, the 13,000 Australian children and adults living with neurofibromatosis were shown unity as more than 115 buildings lit up in blue and green in honor of World Neurofibromatosis Day.