These are the true Heroes
“A hero is an ordinary individual who finds the strength to persevere and endure in spite of overwhelming obstacles.”
— Christopher Reeve
Eliana was born with the odds stacked against her, as she seemed to stop growing in the womb. Born early at 36 weeks, she puzzled the doctors who said she seemed more like a child born weeks earlier. She was rushed to the NICU when they realized she couldn’t breath on her own.
More mysteries ensued. As she turned yellow with jaundice, her arms and legs would also turn blue at random moments when her heart wouldn’t beat at the needed rate. She couldn’t nurse or swallow to eat, and had to be nourished with IVs and an NG tube. She eventually came home, accompanied by piles of medical monitors, alarms, and oxygen tubing.
Eliana quickly developed a fierce determination that has driven her to grow and develop at her own “3 steps forward, 2 steps back” kind of pace. She pushed to exercise in the water to overcome hypotonia, but then at four months old, she was diagnosed with microcephaly as her head and brain were no longer growing at the same rate of her body.
At eighteen months, it was discovered that the development of myelin in her brain was also delayed. With every new discovery, the medical conclusions were the same: we didn’t know why these things were happening. As often as we would celebrate her successes and milestones, we would mourn as those milestones were lost. . . Sometimes to extremes of her no longer breathing or swallowing properly.
Keeping the faith…
Regardless of her challenges, Eliana continued to work and grow. She started early intervention programs and school at one year old, and demonstrated a strength of spirit we had never before seen.
It was clear she had a gift for helping to put people at ease with her differences, and such a level of awareness and understanding that she became her own greatest cheerleader to encourage her own progress and celebrate her own successes.
She has to repeat things hundreds time more than the average kid to master new skills and movements, but she puts in the work and she reaches her goals.
Never Give up…
At the age of seven, it became more apparent that Eliana’s condition was genetic in nature, and likely permanent.
Trends in her growth and development pointed to seizures. Some of her adult teeth began growing in without enamel, the dysmorphic features of her eyes began to become more pronounced.
Eliana was diagnosed with epilepsy, and after her 4th round of genetic testing, her whole exome sequencing revealed the root cause of her hardships to be a rare mutation in her CASK gene.
The information available to us about this was very limited. Only about 100 cases of CASK gene mutations had been documented globally. Eliana’s specific variation had never been seen in anyone else before. Looking online, we found a bleak description: “Girls often do not walk, or have extreme difficulty walking, are often non verbal, possibly deaf, and have eye anomalies. They may also develop seizure disorders, feeding issues, behavioral problems, intellect delay, and a host of other abnormalities.”
Thanks to a Therapuetic Recreation approach and the help of several local foundations, Eliana has learned to love the “play” of her therapies, and she continues to defy the odds. She has learned not only to walk, but to run, jump, and (awkwardly) twirl. She has shown an amazing level of cognitive intelligence as she creatively finds ways to communicate when the seizure activity in her brain takes her words away.
It is such a miracle to watch as Eliana demonstrates her strength and courage – sometimes borrowing the words of a song to get her message across. The messages vary, but her overall theme is pretty clear:
“This is my fight song. . .prove I’m alright song.” . . .”I’ll keep gettin’ up when I hit the ground. Oh, I never give up, no, I never give up no, no.” . . .”I’ll rise up. I’ll rise unafraid. I’ll rise up. And I’ll do it a thousand times again.” . . .”Don’t you know I’m still standin’ better than I ever did? Lookin’ like a true survivor, feeling like a little kid!” . . .”I won’t just survive. Oh, you will see me thrive!”. . .”Cause I am a champion, and you’re gonna hear me roar!” . . .”What’s wrong with being confident?” . . . “I’m like a shooting star. I’ve come so far. I can’t go back to where I used to be!”. . .”If I go there’s just no telling how far I’ll go!” . . . “This girl is on FIRE!” . . .”Don’t you underestimate me, cause I know that I won’t go speechless!” . . .”Had to have high high hopes for a livin’. Didn’t know how, but I always had a feelin’ I was gonna be that one in a million!”
People ask how I can be so sure of future progress in spite of hardships we face with Eliana. The answer is simple. The confidence is not really mine. It’s hers. Regardless of her genetic handicap, I know she can and will achieve because, in her own way, she tells me so on a regular basis.
Eliana requires an enormous amount of team support, and the expense of the extra supplies, equipment, and medications that are necessary to manage the ups and downs of her condition, but the sacrifice hardly seems to matter, because of the joy and light that she radiates into everyone she meets!