March 1, 2024

Baby has rare genetic disease that affects only 30 people worldwide

By Emily Joshu Health Reporter for Dailymail.Com

17:14 February 7, 2024, updated 17:19 February 7, 2024



A girl in Missouri was born with a genetic disease that affects only 30 people in the world – leaving her without eyes.

Taylor Ice was overjoyed when she got pregnant last year after more than a year of struggling with fertility.

During the pregnancy, doctors told Mrs. Ice and her husband Robert that their daughter was perfectly healthy.

However, when Wrenley was born on November 6, 2023, her parents realized something was wrong.

“I noticed she wasn’t opening her eyes, so I asked the nurse,” Ms. Ice told local news station KFVS 12.

‘She said to me, ‘Well, in the womb it’s dark, so they don’t normally open their eyes right away.’

However, Wrenley never opened his eyes.

Robert and Taylor Ice were surprised when their daughter, Wrenley, was born without eyes
Wrenley has haploinsufficiency of the PRR-12 gene, which caused her eyes to not develop in the womb

“The pediatrician is examining the baby and he just stops the examination, looks at us and says, ‘Your daughter doesn’t have eyes,’” Ms. Ice said.

‘I just looked at him and said, ‘You mean they’re small?’ He said, “No, they’re not there.”

“I started crying because I just couldn’t fully process what that meant at that moment.”

Although Mrs. Ice had just given birth by cesarean section, the family drove 150 miles that same day to St. Louis Children’s Hospital, where they spent nine days searching for answers.

Mr Ice said: ‘It was, for me, confusing because one diagnosis led to another diagnosis, which was actually within that diagnosis.’

“It was a lot to absorb at once. So each time we would get a new diagnosis and we were just researching.

Finally, doctors determined that Wrenley was born with anophthalmia, a condition that caused her to develop no eye tissue or optic nerve – which processes visual information in the brain.

It also does not produce cortisol, a stress hormone produced by the adrenal glands.

All of this caused his eyes to remain closed.

“I couldn’t believe something like this happened to us,” Ms. Ice said.

The same day Ms. Ice gave birth to Wrenley, the family drove 150 miles to St. Louis Children’s Hospital, where they spent nine days searching for answers.
Later this week, Wrenley will undergo surgery to open her eyelids and place prosthetics where her eyes would be to help her facial structure develop normally.

Genetic testing showed that Wrenley had a condition known as haploinsufficiency of the PRR-12 gene, which caused her eyes to not develop in the womb.

Experts estimate that only 30 cases have been reported worldwide. “We had a better chance of winning the Powerball,” Ms. Ice said.

Dr. Nate Jensen, a geneticist at St. Louis Children’s Hospital, told KFVS 12, “This is an incredibly rare condition.”

“There is a spectrum of how patients are affected by this. Some patients with the same genetic change have one affected eye. [The eye] it may be entirely absent, as in the case of Wrenley, or it may be merely minor.’

READ MORE: 1-year-old baby born without eyes undergoes ‘orbit lengthening’ treatment to be able to implant prostheses

A North Carolina baby born without eyes is undergoing surgery to lengthen his eye sockets so he can receive prosthetics.

“In this case, both eyes are affected and both are completely missing.”

Dr. Jensen said that although research on PRR-12 is extremely limited, it can cause intellectual and developmental delays.

Although Ms. Ice’s pregnancy was normal, her parents could have unknowingly passed on genetic mutations.

Dr Jensen estimates there is a 50 percent chance Wrenley will pass the disease on to her future children.

Experts are unsure what causes the PRR-12 gene abnormalities, although they believe nothing the Ice family could have done would have prevented it.

“There is nothing Wrenley’s mother or father did to cause this,” Dr. Jensen said. ‘There’s nothing I could have done to prevent it – it’s completely random.’

No treatment can bring back the eyes, and doctors are focused on giving babies prosthetics to help them live relatively normal lives.

The family has launched a GoFundMe to cover the 300-mile round trip from their home in Poplar Bluff to the hospital in St Louis, as well as medical expenses as Wrenley grows.

Later this week, Wrenley will undergo surgery to open her eyelids and place prosthetics where her eyes would be to help her facial structure develop normally.

“It’s like the whole world is in your hands,” Ice said. “In the long run, I feel like we were chosen to help her along the way and that we would learn from her too.”

The family is now focused on helping Wrenley navigate the world without her vision. Every night, she sleeps tucked into one of her parents’ shirts to get used to their smell.

‘Well, guys, they learn through sight – they learn by seeing things – so with her, she’ll have to learn how to feel what’s around her and smell what’s around her, said Mrs. Ice.

‘It’s hard for us to visualize what life would be like if we couldn’t see. If someone took away my vision, I would be devastated.’

‘But for her, this is normal.’

What is anophthalmia?

Anophthalmos means absence of the eye.

A child may be born with one or both eyes missing from the eye socket.

The rare disease develops during pregnancy and may be associated with other birth defects.

The condition can be caused by genetic mutations and abnormal chromosomes.

Researchers also believe that environmental factors, such as exposure to X-rays, chemicals, medications, pesticides, toxins, radiation or viruses, increase the risk of anophthalmia, but the research is not conclusive.

Unfortunately, no treatment will restore vision in children affected by Anophthalmos.

Children will need repeated hospital visits and many have eye prostheses to ensure that the bone and soft tissue around the eye socket grows properly and to improve appearance.

Source: Micro and Anophthalmic Children’s Society

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