A rare genetic disorder causes a baby girl to be born blind

You could have come across a blind girl or heard about a girl who was born without limbs or legs. You may be surprised to hear that a girl had an uncommon genetic condition that prevented her from having eyes at birth.

After battling infertility, Robert and Taylor Ice were overjoyed to learn they were expecting a child. They received assurances about the health of their unborn kid. But when 6 pounds, 10 ounces Wrenley Ice was born on November 23 by C-section, they knew something wasn’t right.

Taylor alerted the nurse to her worry after seeing that Wrenley was not opening her eyes. At first, they dismissed it as the normal behavior of a newborn acclimating to light after spending time in a dark womb, so they were shocked to hear the startling news from the pediatrician who examined their child.

The mother said, “He stopped in the middle of his examination and looked up at us, saying, ‘Your daughter doesn’t have any eyes.'”

“I responded, ‘What do you mean, are they small?’ looking at him. To which he replied, “No, they’re not there.” I couldn’t even begin to understand what it meant at the moment, so I just started crying,” she said.

In search of answers, the Poplar Bluff couple traveled more than 150 miles to the Children’s Hospital in St. Louis.

The mother gave the explanation, referring to her baby’s birth without eye tissue and with sealed lids, that “one diagnosis led to another.”

Eventually, a geneticist named Dr. Nate Jensen discovered a disease called haploinsufficiency of PRR12, a gene that causes a variety of disorders related to the eyes, multisystems, and neurodevelopment.

Less than 30 instances globally have been reported for this very unusual illness, according to Jensen, who told the publication as much.

“Patients with PRR-12 dysfunction have varying degrees of effect. As in Wrenley’s case, some people with the same gene mutation may only have damage to one eye, or it may not affect any eye at all, he said.

Alternatively, the size may be reduced. The specialist went on, explaining that Wrenley’s problem involves both of his eyes and is entirely missing. It may also have an impact on Wrenley’s intellectual and developmental growth.

“There’s nothing Wrenley’s mother or father did to cause this, nor could they have done to prevent it,” Jensen said. It is completely arbitrary. “I mean, we had a better chance of winning the Powerball,” Taylor said in the interim.

The parents said they felt like they had won the lotto with their child.

With a tender glance at his eagerly anticipated kid, Robert said, “It’s like holding the whole world in your hands.” Ultimately, I think we were picked to help her on her path and that we’ll get knowledge from her as well,” he said.

Taylor also said that this is Wrenley’s reality, for her.

She said, “For her, this is just her normal.”

Wrenley’s mom said on GoFundMe that she would need surgery to inject her eyelids and install spacers in order to guarantee that her face structure develops properly.

They said that as she gets older, she would ultimately have artificial eyes. We hope that she will thrive and enjoy a happy and fulfilled life if she has access to resources, help, support, and love.