The story of Kelly (on behalf of my daughter, Leila)
Our sweet Leila was born on December 29, 2014. She was born at 39 weeks and was 8 lbs, 2 oz. There were no complications during her birth; in fact, it was an easy labor and delivery. When we got home, Leila slept a lot and was slow to nurse, but other than that she seemed like a perfectly healthy baby. At Leila’s 4-month check up, her doctor was a little concerned about her lack of head control and her inability to push herself up while she was on her tummy, so she referred us to early intervention. A team from EI came out to evaluate Leila, and I began to worry, as she was unable to do most of the tasks on the evaluation. A very experienced physical therapist on the team called my pediatrician that night to say she was concerned about Leila; something wasn’t right. She had extremely low muscle tone, some of the most severe she’d ever seen. Our pediatrician referred us to a neurologist at Boston Children’s Hospital, and thus began our journey.
In the beginning the specialists would tell us not to worry; Leila was still so young. But as months passed, and more milestones were missed, the doctors’ concerns were increasing and so were ours. Leila was 2 years old and not walking or talking. The doctors suspected a connective tissue disorder. But that didn’t explain Leila’s major speech delay. Her geneticist speculated that she might have two things (which totally blows my mind-I mean, how did that happen? How is that fair?) So we began the testing phase of our journey: Leila had blood tests, and an MRI of her brain and spine. She had her chromosomes tested and eventually all of her genes. But each test came back inconclusive. Her whole exome sequencing did isolate one mutated gene, but scientists don’t know anything about this gene yet, except that it is expressed in the brain. It could be nothing or the answer everything.
Because doctors suspected a connective tissue disorder, Leila also had to have an echogram of her heart. This was one of our scariest appointments because the cardiologist discovered that Leila’s aorta was dilated. Although mild, it could lead to a very serious cardiac event. So now we were not just dealing with developmental delays; we were dealing with our daughter’s life. Our fears have been assuaged a little since that first cardiology appointment since Leila’s aorta has not grown in size. But the worry is still there.
Fast-forward 2 years and our beautiful Leila is now 4 years old. She is walking and talking. She loves school, and she knows her colors and her letters and the names of all of her classmates and the names of all of the Disney princesses. She loves dolls and books and playing with her siblings. We still don’t have a diagnosis for her, but we have sort of let that go. We no longer spend countless hours Googling her symptoms and speculating which rare disease she might have. We no longer compare her to other children her age or despair over missed milestones. Instead, we take one day at a time, and celebrate Leila’s little victories, her “inchstones.” (I read an article in Parents magazine by a mom whose son had special needs, and she referred to his milestones as inchstones, so I’ve adopted the term). We are so grateful that her progress has been forward, albeit very slow. There was a time when I thought Leila would have to walk with a walker for the rest of her life. Now she is learning to run and jump. And as of recently, I thought I’d never be able to have a conversation with Leila. But she is speaking in 3-4 word sentences now: she asks why, plays pretend with her sister, and say’s “I love you.” And we are thrilled.
We also try to look on the brightside of being undiagnosed. Sure, a diagnosis would give us answers about the future and help us ‘treat’ whatever disorder she has. But at the same time, there are no data or statistics putting limits on what Leila might achieve; the sky is the limit for her. Leila amazes us every day; things do not come easy for her, yet she is determined to “do self,” which she says as she puts on her own pajamas or zippers her own coat.
As you can tell from her picture, Leila is such a happy little girl. She has a certain brightness about her that lights up a room. She is our very own Little Miss Sunshine, and we love her so much.