Romeo “Chicken” Pena Jr., a third grader at Premont Elementary, walks the halls with hundreds of students trying not to draw attention to how his physical appearance is slightly different from other students.
Pena, 9, has a rare disorder called Ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome. He was diagnosed in April 2008 at only four months old after his dentist noticed several traits of the disorder, according to his mom.
The disorder has a variety of symptoms and physical characteristics that can affect the skin, hair, nails, teeth and certain glands.
According to Pena's mom, Tina Lara, the most frightening part of her son's disorder is that it can be fatal if he gets overheated.
AEC syndrome also causes decreased sweat production (hypohidrosis), which causes some affected individuals to be uncomfortable or feel “overheated” when the temperature rises (heat intolerance). Hypohidrosis is due, in part, to reduced number or absence of sweat glands, according to the National Organization for Rare Disorders (NORD).
Common symptoms may vary from one individual to another. Symptoms include abnormal fibrous strands of tissue that can partially or completely fuse the upper and lower eyelids (ankyloblepharon), mild to severe skin erosions, abnormal hair, and cleft palate and/or cleft lip. AEC syndrome is caused by mutations in the p63 gene, according to NORD.
Eyebrows and eyelashes are also sparse. Nail changes may also occur among individuals. Dental abnormalities are common and can include one or more missing teeth (hypodontia), widely spaced teeth, and malformed or underdeveloped (hypoplastic) teeth.
Pena has eight teeth that must be capped to prevent any tooth decay. Due to Pena's thin gums and lack of molars, it's impossible for him to get dentures.
School officials have had to call the ambulance three times this school year prompting Lara to help raise awareness about AEC so that the community and Pena's peers are aware of the situation.
“The teachers and coaches know about his disorder and what needs to be done if he gets overheated. They allow my son to sit out if he doesn't feel well,” Lara said. “He's no different than the next child, but for our family we must always think about safety and how to keep him cool. With the recent temperatures and how soon the South Texas heat will arrive, I'd like everyone to understand in case something happens in public.”
While Pena may be only 9, he takes his health seriously to prevent seizures. At home he is in front of the air conditioner and fans.
“I don't really tell people about me, but I do tell my friends that if they see me fall to just get help fast,” Pena said.
Pena would love to play outdoor sports such as baseball, basketball, bowling and skateboarding. He'd like to play football, but with all the protective gear needed to play Pena would overheat in seconds.
Fewer than 100 AEC cases have been described in the medical literature and the exact incidence or prevalence of the disorder in the general population is unknown, according to NORD.
According to NORD, treatment of AEC syndrome is directed toward the specific symptoms that are apparent in each individual and may require the coordinated efforts of a team of specialists including pediatricians, orthopedists, orthopedic surgeons, dermatologists, dentists, audiologists, otolaryngologists, and other healthcare professionals. Surgeries may be necessary for cleft lip, cleft palate, limb malformations, and certain facial anomalies such as underdeveloped jaw.
Pena has had to undergo a total of 15 surgeries.
“I don't feel a lot of the pain afterwards, but I don't want anymore surgeries,” he said.
According to NORD, the small number of identified cases, the lack of large clinical studies, and the possibility of other genes or factors influencing the disorder prevent physicians from developing a completely accurate picture of associated symptoms and prognosis.
Lara hopes that the trip they have planned for this summer will benefit Pena's disorder. Pena along with his mother and sister will take a trip to Falls Church, Virginia to attend the National Foundation for Ectodermal Dysplasias (NFED) conference. A gofundme account, https://www.gofundme.com/29at5mkv, has been set up by the family for any donations.
According to Lara, the closet child with the disorder lives in Austin.
“I hope to meet other children with the exact thing I have,” Pena said smiling. “I've never met anyone like me.”