Little Wrenley is born without eyes. It wasn't until nine days later that the cause became clear: a rare genetic defect that could have further consequences.
Poplar Bluff – For many couples, planning children doesn't just start with the birth, it often does pregnancy planned for a long time. In Taylor I's case, it took a full year to get pregnant. Both she and her husband, Robert, were overjoyed about the finally positive pregnancy test. The pregnancy went smoothly and during regular examinations the doctors assured the couple that their daughter was perfectly healthy. There can always be surprises during birth A woman gave birth to a baby weighing around seven kilos. However, Taylor I was in for a shock after giving birth when it was discovered that her baby was born without eyes.
Baby is born without eyes – shock for mother and father after birth
“The pediatrician was examining our baby and stopped his examination, looked at us and said, 'Your daughter has no eyes,' and said it so bluntly,” Taylor reports at KFVS12. The mother herself had already noticed that her daughter did not open her eyes. However, when she spoke to a nurse about it, she was able to calm her down. It is not unusual for newborns not to open their eyes immediately.
To find out why their baby had no eyes, the couple drove to Children's Hospital in St. Louis. There, too, the doctors puzzled for nine days until they found the correct diagnosis. Wrenley was diagnosed with a mutation in the PRR-12 gene. This is the reason why Wrenley was born with anophthalmia, i.e. without eyes. In addition, your body does not produce the stress hormone cortisol.
Diagnosis took nine days: Doctors discover extremely rare gene mutation in baby without eyes.
“This is an incredibly rare condition. There are fewer than 30 described cases in the world,” explains geneticist Dr. Nate Jensen in conversation with KPTV. However, the genetic defect could have other effects on Wrenley's life. While research into the disease is extremely limited, it could affect Wrenley's physical and mental development, Jensen said.
There is no cure for the extremely rare disease. Wrenley will never be able to see. The doctors therefore focus on improving the quality of life of the newborn. As a result, she underwent surgery on February 9th to open her eyelids RTL reported. She will later receive prosthetic eyes so that her facial structure can develop normally. In order to finance the trips necessary for treatment to the children's hospital in St. Louis, more than 500 kilometers away, the Family started a fundraising campaign on GoFundMe.
What is Anophthalmia?
Anophthalmia is a birth defect
in which a baby is born without one or both eyes. It develops during pregnancy and can occur alone, in combination with other birth defects, or as part of a syndrome.
The causes of anophthalmia are unknown in most infants. Some babies have anophthalmia due to a change in their genes or chromosomes. It can also be caused by taking certain medicines during pregnancy. However, the defect can also be caused by a combination of other factors.
There is no treatment that creates a new eye or restores full vision to those affected by anophthalmia. A baby born with these conditions should be examined by a team of specialist ophthalmologists:
– An ophthalmologist (a doctor specifically trained to treat eyes)
– An ocularist (health care provider who creates and fits prosthetic eyes)
– An oculoplastic surgeon (doctor who specializes in eye and orbit surgery)
The eye sockets are crucial for allowing a baby's face to grow and develop properly. When a baby suffers from these diseases, the bones that form the eye socket cannot grow properly. Babies can be fitted with a plastic structure called a conformer that supports the proper growth of the eye socket and bones. As babies get older, these devices need to be enlarged to expand the eye socket. As children get older, they can also have an artificial eye fitted.
Wrenley parents are determined to provide the best possible support for their daughter
Even though it was a shock to learn that their daughter will never be able to see, the couple now wants to move forward and face the challenge. “I feel like we were chosen to help her on her journey and that we will also learn from her,” says Robert I.
Wrenley will have to learn to perceive her surroundings through smell and touch, explains the little one's mother. For example, Wrenley sleeps every night wearing one of her mother and father's t-shirts. The familiar smell shows her that her parents are there for her. Alone in Millions of people in Germany are at risk of going blind, so you should pay attention to certain symptoms. (sp)
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