This is Becky, and I’m pretty sure she falls into the second group. Don’t worry – she’s scrappy and unrelentingly optimistic, and now that she’s got all of us on her side, her luck is about to change.
Some people are born lucky, and others must battle for every small victory.
Becky’s a single mom to Hailey, 13, and Alex, two. Life is never easy for single parents, but after Alex was born in December of 2014, Becky’s whole world turned upside down. She had a good job, Hailey was doing well in school, and Alex was welcomed into the world with much excitement.
That excitement was fleeting, Becky remembers, because right away, Alex struggled.
Doctors noticed his breathing and heart rate were abnormal, so they kept him in the NICU for 11 days before they were satisfied he was healthy enough to go home. They were right to worry – it was only the beginning of Alex’s long, difficult journey. Over the next few months, doctors noticed irregularities in his vision, larynx, and ability to swallow, but they were at a loss as to why.
On the bright side, he clearly inherited his mama’s positive personality.
Doctors at Children’s Hospital in Omaha ran every test they could. Becky stayed positive, hoping with each new procedure would finally come answers. But after 10 long months, Alex’s neurologist told Becky that whatever it was, it was beyond their capabilities to solve; they just weren’t sure how to help her son.
Right about the time it seemed the world was giving up on Alex, Becky lost her job. Any normal human would have given up hope – there was no second income to fall back on, and the tower of Alex’s medical bills grew taller every day…no one would have blamed her. But that’s not who Becky is, she knew she had to keep fighting.
“It was a devastating blow, to say the least, but for the sake of my kids, I picked myself back up. My son’s health was priority number one. I continued my quest for answers.” She applied for public assistance to cover their basic needs and pushed for an appointment with the genetic specialists at Johns Hopkins in Baltimore.
If anyone could help her brave little fighter, Becky believed, they could.
Just before his first birthday, Alex got in, and right away, doctors there had news. The head of pediatrics diagnosed him with severe scoliosis and cerebral palsy, and recommended an extensive genetic panel called whole exome sequencing. Becky was stunned.
“The scoliosis was no surprise, but the cerebral palsy diagnosis was like a shot through the heart,” she remembers. “I knew my son had problems like what she was describing, but to hear someone tell you out loud your baby has cerebral palsy was heartbreaking.”
They ran the genetic test and discovered Alex had two mutations: a rare mitochondrial condition known as Kearns Sayre syndrome, and one they couldn’t identify at all.
Kearns Sayre syndrome is a progressive disease characterized by drooping eyelids, abnormal heartbeat, and muscle weakness, to name a few. Fortunately, it has zero effect on that enchanting smile.
I don’t think anything does. In just about every scenario, Alex is smiling.
Even during tough times.
Oh, there have been a lot of tough times in his short two years. And there will almost certainly be many, many more – patients with Kearns Sayre syndrome lack mitochondria in their cells, so the cells can’t make the energy needed to grow and thrive. And survive.
Alex’s new prognosis was even more devastating than the last, a completely reasonable time to break down. But this is Becky we’re talking about.
“I realized I had a choice to make. I could either sit and feel sorry for my son and our family, or I could get up and do something about it. Reactive or proactive? I chose the latter.” She dove headfirst into research, advocacy, and making sure Alex had the very best possible care he could get. She also got a new job at a center for special needs kids, but Alex had a rough couple of months battling illness after illness, and Becky had no choice but to miss work to care for him. She was let go this past January.
While all that was going on, science caught up with Alex, and his mystery mutation was identified as GNB5. He’s only the 8th person ever identified with this particular mutation, and the only one who also has a mitochondrial condition, making him unique from absolutely anyone else on the planet. A group of research scientists in Italy happened to be studying GNB5, and they’re super interested in Alex’s case, so Becky is hopeful better treatment options, and maybe even a cure, will be available someday.
Until then, Alex’s life is a steady stream of doctor visits, surgeries, therapies, and hope. He loves being around other kids, loves his sister Hailey like crazy, and loves playing with his light-up piano. Becky does her best to fill his life with joy, for as long as she can, because no one knows just what his future holds.
Becky told us she needed a few things to make Alex more comfortable at home, and Chive Charities was beyond happy to help. With a $5,000 grant made courtesy of our monthly Green Ribbon donors, we gave Becky and Alex a sweet new seating system and quite possibly the coolest contraption we’ve ever seen. It’s called an Upsee, and well…look.
This is an Upsee, and it’s great for helping kids who wouldn’t otherwise really experience the motion of walking. Becky hopes it helps Alex’s physical therapy progress, but if it’s just a fun experience they can share together, we’re good with that, too. It’s all about making the world 10% happier.
Lucky for us, Becky found Chive Charities through a recipient we told you about last year, Neji, which is proof just how important telling these stories and growing our community is for underdogs like Alex. You can give hope to families like Becky’s by becoming a Chive Charities monthly donor right HERE.