Rare disease: their baby was born without eyes

Last November, a baby girl was born without eyes in Missouri, due to a rare disease where fewer than 30 cases have been recorded.

THE ESSENTIAL

Wrenley was born on November 23, 2023. When she was born, her parents and doctors discovered that she had no eyes.
After several examinations, a geneticist was able to put a name to his disease: PRR12 haploinsufficiency.
There are fewer than 30 cases worldwide.

After experiencing infertility issues, Robert and Taylor Ice were ecstatic to learn they were expecting a child and that tests showed he was healthy.

This joy did not fade until the birth of their daughter on November 23, 2023. But then it gave way to incomprehension and worry. Their little Wrenley had no eyes. They entrusted their story to the local TV channel KFVS-TV.

Baby without eyes: there are less than 30 cases in the world

Taylor remembers the birth of her daughter: “When I heard it, I burst into tears. I mean, hearing it, it was just perfect.” However, the young mother notices quite quickly that her child does not open his eyes. She then questioned a nurse who was reassuring, explaining that “In the womb, it’s dark so normally infants don’t open their eyes right away.”

But as the hours passed, Wrenley never opened his eyes. “The pediatrician is examining the baby and he stops with his exam and looks at us and says, ‘Your daughter has no eyes.’ He said it so bluntly, I just looked at him and said. said: ‘What do you mean, they’re small?'”remembers the young woman. “He said, ‘No, they’re not here,’ and I just burst into tears because I just couldn’t fully understand what that meant at that moment.”

To get a more accurate diagnosis, the new family went to St. Louis Children’s Hospital, located about 150 miles from home. A long list of exams then began. “It was confusing to me, because one diagnosis led to another diagnosis, which was actually within that diagnosis. It was just a lot of things to take in at once.”explains Robert. “So every time we would get a new diagnosis, and we would just do research.”

Doctors eventually determined that Wrenley was born without any eye tissue, no optic nerves and was not producing the stress hormone, called cortisol. However, they did not understand the cause or the future implications. They then contacted geneticist Nate Jensen. It was the first time he saw such a case. But he ended up understanding what the baby was suffering from: PRR12 haploinsufficiency. “It is an incredibly rare disease, there are less than thirty cases described in the world”explained the doctor on television.

A genetic disease called PRR12 haploinsufficiency

“In the case of this genetic disease PRR-12, there is a wide range of ways in which patients are affected by it,” Dr. Jensen said. “Some patients with the same genetic change have one eye affected and it may be completely absent, as in Wrenley’s case, or it may simply be smaller, and in this case both eyes are affected and both are completely absent .”

This pathology does not only affect the eyes, it can also lead to neurodevelopmental and multisystem abnormalities. The doctor specifies that this genetic mutation is completely random. “There was nothing Wesley’s mother or father did to cause this, nor could there have been anything they could have done to prevent this.”

“We had a better chance of winning the lottery”Taylor added during the filmed interview. But like all young parents, the arrival of their little girl is seen by the young mother and her husband as a happy event.

“It’s a bit like the whole world is in your hands”the dad confided to the camera, while lovingly looking at his long-awaited baby. “In the long run, I think we are the ones chosen to help her along her journey and learn from her as well.”

The American family launched a Fund raising in order to finance the operations that Wrenley will need as he grows up. She would have to undergo surgery to “unsolder his eyelids and put spacers so that his facial structure develops correctly”. “She’ll end up having glass eyes once she’s older.”they explained. “We hope that with resources, help, support and love, she will thrive and have a long and happy life.”