2-year-old child born without eyelids has to suffer sleeping with eyes open due to rare disorder

A two-year-old child from Dasmariñas, Cavite was born without eyelids and has to sleep with her eyes open due to a rare genetic disorder.

According to a report on PinoyMD, Alexandra Guadayo suffers from Ablepharon-macrostomia syndrome (AMS), which affects around one out of a million people.

Alexandra's mother, Mary Jane, said she gave birth at the lying-in and the midwife did not tell her about her child's condition yet and had talked to her husband first.

The mother and child were abandoned by the father after learning about Alexandra's condition.

"My husband asked me what happened, I told him I also have no idea. And then he left me in the lying-in [clinic]," she said in Filipino.

"My mother paid for the bills in the lying-in [clinic] so we can check out," she added.

One week after giving birth, Mary Jane decided to bring her daughter Alex to the hospital because her eyes were having scars and was having a hard time breathing.

That is when Mary Jane found out that her child has AMS.

"The doctor told us that she needs to be confined. So we had her confined there and that's when we knew what her condition is," she said.

Apart from having no eyelids, her ears are also submerged into her head and she has small and deformed fingers. Her teeth are also growing differently and her skin is full of scars.

"Ablepharon-macrostomia syndrome [is] 'a,' meaning none and 'blepharon' meaning eyelid. So there is no eyelid, it didn't develop well," said geneticist Dr. Mary Anne Chiong.

"Macrostomia [is] 'macro' meaning [big], 'stomia' is the mouth so wide mouth. [That's the most prominent feature of that syndrome]," she added.

Chiong said this happens due to changes or mutation in what is called the Twist2 Gene.

"This Twist Gene, a transcription factor, is important in differentiation and development of dermal tissues. When we say dermal tissues, it involves the skin, the hair, the nails, the teeth, etc. So this affects not just the eyelids and the mouth," she said.

"When this gene has a mutation, it doesn't function well. Therefore features like these start presenting on the patient. It is genetic," she added.

Additionally, Chiong said most of the reports in literature says that the AMS is sporadic which means it only happens to the child.

However, she said there are a few reports saying that there are parents who are also affected.

According to the President of the Philippine Society of Orphan Diseases Cynthia Magdaraog, there are only a few hundred recorded to have rare diseases.

Alexandra is the first one to be recorded to have AMS at the Institute of Human Genetics in the Philippine General Hospital.

"In our registry, [there are] about 63 rare diseases and across 350 plus, minus patients among the 65 rare diseases," Magdaraog said.

One option AMS patients can consider is to put or operate a skin to function as the eyelid.

However, Mary Jane said the doctors told her that it would be hard in Alexanda's condition.

"The doctor told me that even if she would undergo an operation in another country, there will be a time that she would be blind. I was told it was up to me to decide, but there is no hundred percent guarantee that she will have normal vision," she said.

Opthamologist Dr. Jonalyn Bernardino said the eyelids have an important role when it comes to people's eye vision.

"The eyelid is the first defense in front of the eye. Like for example, in sudden gusts of wind which may blow some dust into the eye," she said.

"It's like a wiper of a car. It wipes the tears so it will distributed evenly across the eye," she added.

For people with AMS, Bernardino said they don't have protection for their eyes and they don't have a way to moisturize the first layer of their eyes.

Due to her condition, Alexandra's is starting to have blurry vision and there are times that she would get scars around her eyes.

To those who want to help Mary Jane and Alexandra, you can donate to 09354364729 on GCash.

—Jannielyn Bigtas/MGP, GMA News