It took years for Richelda “Chie” Santos to finally have the courage to openly talk about her daughter’s condition. Not because she’s ashamed of it but because she needed to collect enough strength to do it.
“Before, I would usually end up crying and getting too emotional every time I would talk about her. But this is the start. I will continue to post and share about my daughter’s journey as I (and my family) experience a beautiful life with her,” shared Chie.
Six-year-old Sopia Grace or “Pia” is Chie and Alejandro’s second child. She was delivered via caesarian section exactly on her 37th week after ultrasounds confirmed a condition called ventriculomegaly (hydrocephalus). This finding indicated that her brain has large fluid-filled structures inside. (Read: LOOK: Social Enterprise In Singapore Helps Kids With Special Needs Through Selling Filipino Food!)
Understanding Aicardi Syndrome
In an interview, Dr. Lucy Kathrina Banzali, a pediatric neurologist at Philippine Children’s Medical Center in Quezon City and Pia’s doctor, explained that Pia has Aicardi Syndrome, an extremely rare genetic disorder that occurs almost exclusively in females.
This syndrome was classically characterized by a triad of features: agenesis or dysgenesis of the corpus callosum (absent or underdeveloped tissue connecting the left and right halves of the brain), distinctive chorioretinal lacunae (defects in the light-sensitive tissue at the back of the eye/retina), and infantile spasms (seizures beginning in infancy) which tend to progress to refractory epilepsy.
Since Aicardi syndrome is a very rare disorder, researchers estimate that there are approximately 4,000 affected individuals worldwide. It occurs in about 1 in 105,000 to 167,000 newborns in the United States, and the cause of it is unknown and they are not passed down through generations.
At present, Pia needs to undergo therapies and is still experiencing seizures although it is more controlled now due to her medications.
“Even though she can’t speak, she can express herself through actions – she’s very sweet. She knows how to “mano” . She’s also very interested in music,” says Chie. (Read: Prayers For Little Children)
Due to the pandemic, Chie admitted that Pia’s medical checkups have been severely affected as they resorted to teleconsultations with the doctor instead of face-to-face checkups.
“It’s really different when the doctor actually sees the patient. We also need to cancel some of her therapies due to many COVID cases around not to mention the fear that she [Pia] may contract the virus during the therapy session,” she admits.
When Pia was six months old, she developed infantile spasms and focal seizures. That time she was already learning how to roll, utter “dada” and “didi”, and even respond when her name was called. But because of her seizures, she’d forget everything she learned.
Even when a child sleeps, a single noise could cause her seizures. Extreme emotions, hot weather, and fever are also among the factors that could trigger seizure attacks. So Pia needs to take an anticonvulsant medication religiously. (Read: Karen Davila Says ‘Faith and Love’ Helped Her Son Survive Seizure)
She was also referred to a neurodevelopmental pediatrician and rehabilitation medicine specialist and had to attend regular physical and occupational therapies for her early interventions.
Acceptance, faith are keys
Despite her kid’s condition, Chie is thankful for the support system given by their friends and families.
“They gave us extra strength particularly during those times when despite trying to be positive, we felt weak and shattered,” said Chie.
Chie also learned to accept the situation and to have unwavering faith in God.
“If acceptance is there, it’ll be easier to attend to your kid’s needs. It won’t be a burden, but a challenge. Faith is [also] very important. It’s hard to explain but somehow, it gave us the strength and courage knowing that we have guidance from up above,” she concludes.