Profile 4 - Bea's Story
Bea Patricia Fernandez was a term delivery by vaginal extraction to Roy and Menchu Fernandez, with a birth weight of 2.8 kg. or 6.2 lbs/oz. Mother’s pregnancy was unremarkable. Other than anti-asthma medication taken during the 3rdmonth of gestation, she was not exposed to teratogenic drugs, nor infection. The neonatal course was uneventful and she was discharged 3 days after delivery.
When Bea reached 6 months, she was brought for consult to a developmental pediatrician and a pediatric neurologist. The complaint was developmental delay. Initial investigations did not yield any findings which included chromosomal studies and urine metabolic screen. Bea was noted to be severely hypotonic without any head control. She was also noted to have some sort of wrist drop at birth and her feet were internally rotated. She had strabismus-commonly known as “crossed eyes”, was constantly drooling, but apparently fed well and never aspirated. She had difficulty looking to the left, and the neurologist thought her facial muscles were weak as she could not close her lids completely. At 6 months she was not reaching out, unable to sit alone, and had a significant head lag. On examination, her skin was clean of any abnormalities-neurocutaneous stigmata, no cardiac, or GI abnormalities were noted. However, her affect was dull and she had a fish-mouth shaped mouth. Her head circumference was on the 2nd percentile. There was strabismus and a pendular nystagmus theto-and-fro movements of the eyes. Otherwise the rest of the neurologic examination was normal. Additional tests like an Arterial blood gas, EMG-NCVand muscle enzymes were also normal. EEG was slow but had no epileptiform discharges-resembling an epileptic attack. MRI showed dysmyelination-aloss of myelin in the white matter of the central nervous system (brain, spinal cord)at the temporoparietal region.
Bea was prone to recurrent episodes of dehydration and would recover almost immediately after she was fully hydrated by IV fluids. Her frequent hospitalizations were often due to this concern and almost always, the cause was not found. She has had no seizure episodes.
Bea eventually walked at almost 2, years of age and her social and intellectual skills were that of a 6-month old. Her language never developed.
Bea is a product of a non-consanguineous marriage. Both parents are Filipinos and college graduates. There is no family history of any neurologic disorder particularly neuromuscular disorder, early death, mental retardation, seizures, or other disabilities. Bea is a first born and has a brother, who is apparently healthy and free of any neurologic disorder.
Looking back at the clinical summary and background medical history of my daughter Bea Patricia many years ago as she is now turning 19, in July it seem like we were not going reach any milestones for her physically and mentally. However, we continued caring for her like a normal child knowing what we were up against. Her younger sibling Gabriel, who is now 15, loves her so much!!! We continued with her speech therapy hoping she would be able to speak a little, along with it, physical and occupational therapy to address specific needs like feeding skills, positioning and handling. We later discontinued speech therapy after the doctor told us that she had already reached her “ceiling level” and gestureswould probably help her more. We enrolled her in a special school named Bridges, which was more involved in the education and remedial therapeutic training of children with physical, mental, emotional or sensory impairment, where activities of daily living were being given more focus and an individual education program was also accorded each child. The school’s program has greatly help facilitate Bea’s motor skill difficulties and has also provided appropriate parent support and education at the home setting. Bea has been going to this school up to the present time she loves her school, her teachers, teacher aides, and the caregivers adore her. Before starting the school Bea was 4, you could leave her alone sitting on a chair and come back hours later she would still be sitting on the same chair. She could not hold a spoon or fork, could not hold her glass, could not concentrate and do simple tasks. But now, it’s a different ballgame.
I wanted to share Bea’s story to serve as an inspirationto others, to draw strength from the stories of other children with disabilities as well, to never give up, to always cling to God and to participate in parent support programs and forums that have been down that same road. Help in whatever way we can although we are as far as the Philippines!!! We hope our location will not serve as an obstacle for us to join you. I am so thankful for your features which have helped us a lot.
We have lived with the fact that she may always need a caregiver beside her since her fine motor skills will never be fully developed. But seeing her accomplishments from almost zero, we cannot ask for more. So for other parents like me with children with special needs, hang in there, never lose hope and be brave to face all obstacles.