Around GMA

Article Inside Page

2-year-old girl, Alexandra Guadayo, is just like most kids her age when it comes to interests. Like many she's fond of the social media platfrom TikTok.

However, it's a totally different story when it comes to her physical appearance.

Alexandra was born with a rare genetic disorder that caused her facial deformities.

She doesn't have eyelids like the rest of us and her mouth is relatively wider compared to others.

Alexandra's ears and fingers are also deformed and her teeth grow differently.

Plus, she has scars on her skin and develops wounds around her eyes.

Additionally, these deformities affect her bodily functions too, so she sleeps with her eyes open and has blurry vision.

2-year-old Alexandra Guadayo who has a rare genetic disorder / Source: Pinoy MD

Alxeandra's condition is known as Ablepharon-macrostomia Syndrome or AMS, and it is so rare that according to Cynthia Magdaraog, president of the Philippine Society of Orphan Diseases (PSOD), Alexandra is the first reported AMS patient in the Institute of Genetics at the National Institutes of Health (NIH).

In an interview with Pinoy MD, geneticist Dr. Mary Anne Chiong shed more light on this rare genetic disorder.

According to Dr. Chiong, the name Ablepharon-macrostomia Syndrome (AMS) was derived from its prominent manifestations, namely the lack or malformation of eyelids (ablepharon) and having a wide mouth (macrostomia).

AMS reportedly develops whenever a mutation in the so-called Twist2 gene occurs.

“So, itong twist gene na 'to na transcription factor ay importante sa differentiation at development ng mga dermal tissues

“So, 'pag sinabi kong dermal tissues, it involves the skin, also the hair, nails, the teeth, etc.

“Kaya ang apektado dito ay hindi lang 'yung eyelids or 'yung mouth.

“So, 'pag merong mutation dun sa gene na 'yon, hindi maayos ang pag-function ng gene na ito.

“Therefore, naglalabas ng mga ganito na features sa pasyente. It is genetic.”

AMS patient Alxendra has no eyelids so she sleeps with her eyes open / Source: Pinoy MD

According to the National Organization for Rare Disorders (NORD) in the United States, the global prevalence of AMS has a super low ratio of less than one in a million.

And since there are only very few cases of AMS worldwide, further studies need to be conducted in order to pinpoint exactly how AMS happens and if it can be passed on genetically.

In the Philippines, those who have rare disorders or diseases can turn to PSOD for help.

PSOD offers support for families affected by rare diseases like AMS such as counseling or refers them to other institutes for proper diagnosis and medical advice.

And when it comes to treatment, some AMS patients can undergo eyelid surgery.

However, in Alexandra's case, it can be detrimental as it may cause her to go blind.

During their virtual consultation with ophthalmologist Dr. Jonalyn Bernardino, Alexandra's mom was advised to make sure that she will always have the needed ointment and gel for her eyes to prevent them from drying up.

And since AMS is a genetic disorder, Alexandra will need lifelong medication.

Those who wish to help Alexandra may do so by contacting her mother, Mary Jane Guadayo at 09354364729.

Watch Alexandra's story on Pinoy MD in the video below.

For more features like this, watch 'Pinoy MD' every Saturday, 6 AM on GMA-7.

And for more lifestyle content, head out to GMA's Lifestyle page.

Learn more about other rare diseases that some celebrities battle with or continue to live with in the gallery below.