People (strangers, mostly) constantly ask me questions when I’m out and about with Shirley, “How old is she? Oh, she’s 18 months old? She’s so little! Was she a preemie?” or “is she walking yet? I bet you’re chasing her all over, huh?” I don’t mind these kinds of questions, really. But I am often unsure how to answer them. Do they want the long answer, or the short answer? I could just say “No, she wasn’t a preemie. And no, she isn’t walking.” Or I could go into detail about her medical condition and how we really have no idea why she’s so small or why she’s not walking yet (or crawling, for that matter). I mean, we know that her muscles are weak, that’s why her gross motor skills are behind. We also know that she struggled with eating her entire first year. But what we don’t know is WHY her muscles are weak, or WHY she has feeding and weight gain issues.
Rewind to the very beginning of the year. I had begun questioning, just to myself, why Shirley’s gross motor development was so slow. I mean I KNEW that delays were common for kids like her… but were other heart babies with her similar histories as weak as she was? Were they as bendy and flexy as she was? Did they have as hard of a time eating as she did? Were they all as TINY as she was? So, I started digging. I asked questions on my heart parent groups on Facebook, consulted therapists, read blogs and articles from medical journals. These are really hard questions to answer because every cardiac kiddo’s story differs from the next, especially ones with Shirley’s condition. One thing I did find was that most children who have the same struggles as Shirley (heart defect, extreme low tone, and feeding issues simultaneously) are also often diagnosed with a genetic disorder. At birth Shirley was tested for the genetic disorders that are most commonly associated with her heart defect, but they came back negative. Are those the only possible disorders she could have, you ask? Absolutely not. But, at the time, her team didn’t see a need for further genetic testing.
At long last, I brought it up with both her GI doctor and cardiologist. They both agreed that her low tone, short stature, and difficulty gaining weight were enough for a referral back to the Seattle Children’s genetics clinic. Especially taking into account that she has only had one heart surgery, and never went through a period where her body lacked oxygen. We were referred in April, but since there are not really any “genetic emergencies” appointments are being scheduled out 9-12 months. So, we’re still waiting.
Shirley had her 18-month check-up last week. She weighed in at 18lbs 2.5oz, which means she’s gained a pound since her cardiology appointment last month. But, she has only gained 2lbs total since her 12-month check-up (most of which was gained in the last 3 months). Her pediatrician was also puzzled by her slow physical development and began immediately bouncing around different ideas regarding a possible genetic component to her diagnosis. When he heard how long the wait was for us to get into the SCH genetics clinic he decided to put in a referral of his own to the Mary Bridge genetics clinic in hopes that they would be able to get us in sooner. We're scheduled to see them next month.
Let me be clear on this, we are not fearful about the possibility of Shirley having a genetic condition; it is not a source of anxiety for us. We are purely interested in finding out more about what’s going on in her little body so that we can better support her growth and development. In addition, many genetic disorders bring along with them other potential medical issues that we wouldn’t know to look for without a proper diagnosis.
So, we wait. While we wait we’re focusing on the task at hand. We are spending our time teaching Shirley to feed herself, working with her therapists and practicing her gross motor skills. We’re also trying to figure out how to treat her like the 18-month old (non-toddling) toddler that she is. Our girl looks and moves like a baby but she thinks and understands like a toddler. If we aren’t careful about interacting with her at a level that is developmentally appropriate for her age, her cognitive progress may just slow down to match her physical development. In other words, she will live up to our expectations of her. We have our work cut out for us... in the very best way. I have never felt more fulfilled in my life.
Shirley is a precious gift. We have been thoroughly enjoying every single stage with her. We often ask each other “How did we get so lucky to be her parents?”
Keep our sweet girl in your prayers while we search for better ways to support her as she grows.
I've included some fun pictures from the last couple weeks.