2024-02-07 22:00:00
A baby who was born in MissouriUnited States, surprised doctors and his parents when they discovered that he had been born without eyes due to a rare genetic condition known as PRR-12 gene haploinsufficiency, which means that She is completely blind.
This is Wrenley, the daughter of Taylor Ice and her husband Robert, who was born on November 6 after a long fertility challenge.
After noticing that the little girl was not opening her eyes, the doctors checked her and informed the couple that the newborn has haploinsufficiency of the PRR-12 genea disorder that affects only 30 people worldwide. He means that Wrenley was born without eyes or optic nerve, which means that she is blind
“I realized I wasn’t opening my eyes.”
Taylor Ice was excited to find out she was pregnant last year after more than a year of fight infertility. Throughout the pregnancy, doctors indicated that her baby was perfectly healthy.
However, when Wrenley was born, her parents realized that there was something unusual about the little girl: “I realized that I didn’t open my eyesso I asked the nurse,” the woman told local news station KFVS 12 where she recounted her life experience.
He reported that the nurse, at first, told him that “in the womb it is darkso normally they don’t open their eyes right away“. However, Wrenley never opened his eyes.
CaptWrenley has haploinsufficiency of the PRR-12 gene, which caused her eyes to fail to develop in utero.
When the pediatrician checks the baby, he stops in his studies and looks at the couple to inform them that their daughter had no eyes. “What do you mean they’re small?” recalled Taylor, who was confused at the time. And she adds: ‘”I started crying because I couldn’t fully process what that meant. at that moment”.
Although the woman had just given birth by cesarean section, the couple drove more than 240 km that same day to the St Louis Children’s Hospitalwhere they passed nine days looking for answers. During this time, Wrenley was evaluated by neurology, endocrinology, ophthalmology, cardio, genetics, occupational therapy and speech therapy.
82% of the world’s population carries at least one altered gene
Between diagnosis and diagnosis, doctors finally determined that Wrenley was born with anophthalmiaa condition that caused will not develop any eye tissue or an optic nervewhich processes visual information in the brain.
It also does not produce cortisol, a stress hormone produced by the adrenal glands. All this made his eyes close. Wrenley was diagnosed septo-optic dysplasia.
What is anophthalmia, the condition that prevents the development of eye tissue
A closer look at baby Wrenley’s genetics revealed a PRR-12 gene disorderwhich caused his eyes They will not develop in the womb. Experts estimate that only 30 cases around the world. “We had a better chance of winning the Powerball,” Ice said.
He Dr. Nate Jensen, geneticist at St Louis Children’s Hospitaltold the local media: “This is an incredibly rare condition.“.
The way this genetic change affects patients varies. “Some patients with this condition have an affected eye which could be totally absent or could simply be smalleror, as in this case, that both eyes are affected and both are completely absent“, explained Dr. Jensen.
Genetic studies are shedding light on the complexity of these conditions, where different mutations can produce variable effects, even in members of the same family. Furthermore, it is observed that these genetic disorders do not always fully manifestwhich makes its diagnosis and treatment difficult. That said, Dr. Jensen said that while the Research on PRR-12 is extremely limitedcould cause intellectual and developmental delays.
Genetic manipulation: human embryos free of a hereditary disease
The specialists not sure what causes PRR-12 gene abnormalities, but they are convinced that there is nothing the Ice family could have done to prevent them. “It’s totally random“said Dr Jensen.
However, as we delve deeper into the understanding of genetic mechanisms and we identify the responsible genes, healthcare professionals are improving their capabilities to address these ophthalmic conditions. The advances in genetics and medicine are paving the way for more specific and personalized therapieswhich could have an isignificant positive impact on quality of life of patients and their families affected by these conditions.
Fundraising campaign for Wrenley
No treatment can recover the eyesso doctors focus on giving them prosthesis to babies to help them live relatively normal lives.
The family has launched a GoFundMe for cover round trips from his home in Poplar Bluff, located in Butler County, to the hospital in St Louis, as well as the medical costs as Wrenley grows.
Wrenley will undergo surgery to open his eyelids and place prosthetics where his eyes would be to help his facial structure develop normally.
Wrenley will undergo a surgery to open your eyelids and place prosthetics where his eyes would be, This can help the eye socket and bones grow properly. As time goes on, these devices will need to be enlarged to help expand the facial structure. Likewise, when the girl grows up, she can have a artificial eye.
“We are creating this fundraiser to help with the costs of her treatments, as well as money for gas for her appointments and for any additional help she can use since she will be completely blind and you will have no chance of recovering your vision” says the fundraising campaign for Wrenley to receive financial support. Furthermore, there it offers information to learn more about this rare condition.
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