Ella Casten is a smart, inquisitive little girl with a smile that will melt your heart.
In most ways, she is a typical 1 1/2-year-old. She loves her dog, her toys, and her brother and sister, Henry and Ava. She speaks in cute toddler language and wants to do things all by herself.
But she can't. Her muscles won't let her. Ella has a rare, genetic neuromuscular disease called spinal muscular atrophy, for which there is no treatment or cure. Her motor neurons are dying, causing her to lose muscle function. She first lost the use of her legs, and now she has trouble reaching and lifting even small toys.
Ella was born on June 10, 2010. She started out seemingly healthy, hitting all the normal developmental milestones in her first year. She began to stand and take a few steps.
Just five months ago, all that changed.
Her parents, Lincoln Elementary School teacher Michael Casten, and Lindsay Casten, a former Lincoln teacher, began to try to unravel the mystery with the help of pediatricians and therapies. An Internet search revealed what they had hoped was not the answer.
"I'll never forget that night," Lindsay said. "I Googled hypotonia (poor muscle tone) and hand tremors and one of the things that came up was SMA. Of all the possibilities we had been told, we didn't want it to be that."
Further tests at the University of Chicago confirmed the diagnosis.
"We went out to the car, shut the door. Ella was there with us," Michael said. "We just kind of looked at each other and said, 'What do we do now?' We knew what it meant."
There are four types of SMA, with Type 1 being the most severe. Ella was classified as a "severe Type 2" last fall, Lindsay said.
Their days are filled with occupational and physical therapies. She can't move when she sleeps, so Michael and Lindsay are up through the night to move her to prevent bed sores.
Doctors also did a sleep study to see if Ella is getting enough oxygen at night. Breathing muscles relax naturally when asleep, "but when you're weak, your breathing muscles relax too much and you're not getting enough oxygen," Michael said. The results of the sleep study won't be known for a couple of weeks.
Breathing problems are the life-threatening component of SMA, Lindsay said. If she gets a cold, there are concerns that she will be too weak to cough to expel mucus from her lungs.
While the disease is progressive, typically children with SMA plateau—at some point they stop getting worse.
"Usually, that would have happened long before now," Lindsay said. "She has not plateaued. She is still continuing to regress. I'm hoping soon."
SMA has no effect on Ella's cognitive development, so she gets frustrated when she tries to do the things her older brother and sister can do. Lindsay and Michael keep a blog about their ups and downs with Ella. On Jan. 29, Lindsay had this to say:
"She gets frustrated when she can't lift a small container of Play Doh. Or a Matchbox car. Or push hard enough with a crayon for it to actually make a mark on the paper.
And when we try to help her these days, she just gets angry and throws herself down (or her head back if she's in her wheelchair), and then can't get back up, making things even worse.
I don't know how to make play time easier for her. I don't know how to help her without "helping" her.
And I don't know how to let Ava and Henry play with the things they enjoy without it making Ella terribly upset because she wants to do what they do. But can't.
I just don't know how to do this."
Just when they find a work-around for one of Ella's lost abilities, she loses another skill and they are back to square one, Lindsay said.
"We just find something that works for her, then two weeks later, she can't do that anymore, so we're like, 'OK, what are we going to do instead?' " Lindsay said.
Ella has a tiny wheelchair that she is able to get around in on her own. She also has a large, motorized chair, but the Castens' home is not equipped for it. She can't get around corners. They replaced their carpeting with a wood floor so both wheelchairs could move better, but every time she tries to use the big one, she has to stop because there is no room to maneuver.
"We don't want to frustrate her," Lindsay said. "I want to take her to the mall or a park or something to lean how to use it, but we need to get a car to accommodate it."
(On Tuesday, Ella did get outside in her big wheelchair.)
The family also will have to move or do a major remodel to their Naperville home.
"As long as she can still use the little chair, that's how long we can be in the house as it is," Lindsay said.
But time is running out. Ella already is showing signs of scoliosis.
"Scoliosis is inevitable in children with SMA," Lindsay said. "We're starting to notice that her spine is curving. When she sits in her little chair all the time, she's starting to slouch. She doesn't have the strength to support herself. The (motorized) chair supports her trunk the way it needs to be supported."
Her body is dead weight due to muscle weakness, and as she gets older, it will become more difficult to carry her up and down the stairs, Lindsay said.
The Lincoln School community—and the Elmhurst community—has held several fund-raisers to help the Castens pay for a new, modified vehicle and home. From noon to 3 p.m. Sunday, Feb. 19, families can enjoy food, live music and games at Ella's Day: A Family Carnival at York High School's Field House. Admission is free, but there are multiple ways people can contribute to the cause.
More information about this event
"It's set up so people can just go and provide moral support, or they can provide (monetary) support," Michael said.
Families also have been providing weekly meals to the Castens, helping do research on SMA for them and just being there to listen.
It's evident that the Castens still are not completely comfortable being the recipients of fund-raisers, but they accept the help with grace and dignity.
"It's been a little bit of a challenge," Michael said. "It's hard to accept help."
The day-to-day highs and lows—heartbreak and hope, sadness and joy, weakness and strength—keep the family perpetually fragile. But there is one constant, overriding sentiment that fills their home and their hearts: an abundance of love.
It is impossible to truly capture the essence of Ella in words. It's not every day you meet someone, especially such a little someone, who can so quickly refocus your priorities.
Parents get upset when their kids talk back, when they get a bad grade or they don't clean up after themselves. But the Castens just wish Ella could walk, or push her baby doll's stroller or sleep through the night.
They never know when they wake up each morning what challenges that day will bring.
"I never in a million years had any idea that a human being could feel so many emotions at one time and go from one to another in the blink of an eye," Lindsay said.
The question of "why?" often comes up, Michael said, but he knows he'll never get an answer to that. So he turns his thoughts to what he can do to make life better for Ella.
"I keep telling myself I'm not here to save her. I'm here to take care of her," he said. "I've been given this situation for a reason, so I'm going to do the best that I can to do that."