Alexis undoubtedly was analyzed, re-analyzed, and over-analyzed during her first year of life. Not a single cell in her body went untested. She even had blood work sent out on two different occasions for genetic testing, which thankfully revealed no syndromes or other conditions. Even so, it was suggested we complete a third and final round of genetic testing, leaning more on academic research and family history than blood work and lab technicians. We resisted at first and viewed it as overkill, but ultimately decided to join the waiting list for this testing at Children's Hospital, as our pediatrician strongly recommended it. Plus, doctors kept giving us not-so-subtle hints to do this, and even just last week we were listing her issues at a consultation and were asked the familiar question 'now what syndrome is it that she has?'
It's not fun for parents to hear, but we're certainly not offended by that question. It's a logical one. If I were objective and were told a child was born with an omphalocele (intestines outside the body), an atrial septal defect (hole in the heart), polydactyly (extra fingers or toes), and congenital hip dysplasia among other conditions, I probably would assume the child had a syndrome or genetic disorder, too. After all, to assume it is pure coincidence Lexi has an omphalocele (1 in 5,000 babies), ASD (1 in 2,000 babies), polydactyly (1 in 1,000 babies), and severe hip dysplasia (1 in 1,000 babies), independent of a broader genetic disorder linking these conditions, you have to believe in some pretty long odds. I'm no math major (only a math minor), but the odds of coincidentally having all four conditions independent of one another is 1 in 10 trillion.
Put another way, these odds would be equivalent to Lexi winning the Powerball jackpot if she held one ticket, and the other 6.7 billion people in the world held 1,500 tickets each.
So, we spent several hours at Children's Hospital yesterday afternoon. Lexi's medical history and prior genetic tests were combined with our family medical histories spanning several generations. Some questions asked of Laura and me were expected ('Does anybody in either of your families have any of these conditions?')... while some caught us off guard ('Are you two related in any way?')... but all aimed at finding a common denominator for Lexi's long list of unusual medical conditions. But when the dust settled, we once again were told by doctors (and presumably supercomputers) that Lexi does not have any known syndromes or disorders. Children's Hospital will continue to do more research, and they want to see Lexi again at age two to follow her progress, but ultimately they do not think she has a genetic condition linking her issues together.
We obviously were excited to hear this and be reassured once again. There always will be the possibility of an undiagnosed condition tucked away in the back of our minds, but for now we just think these tests confirmed for doctors what we as parents had already discovered: our baby girl is 1 in a million. Or maybe she's even more like 1 in a trillion... literally.
Lexi spent a day at the beach with her cousins this week. Laura and Lexi decided to spend a couple days in the QC hanging out with family and friends that they don't get to spend enough time with in their short weekend visits. So, Lexi spent Thursday afternoon with the Carslake cousins out at West Lake.
We started by swimming in the lake and playing in the sand. Lexi absolutely loves the water and likes to splash everyone. She doesn't exactly follow the "no-splashing rule" at the pool, but she's young enough to get away with it. Aunt Alisa was a little surprised by how much splashing took place and how much Lexi didn't care how much water got all over her. I'm hoping that means she's going to enjoy swimming as much as I do.
She also got to sit on the beach for the first time. However, in doing so she immediately took the sand, first tried to eat it, and then tried to smear it in her eyes. So, her time there was limited.
After swimming, we headed to the park area for a grill out. Since Lexi now has her two bottom molars and loves hot dogs, this was a big hit for her. There were chairs for all the kids, and Lexi felt like a big girl getting to sit there along side her cousins. Finally, we roasted marshmallows and made smores. Lexi got her first taste of not only chocolate, but smores. She loved them, but got a little messy in the process. I guess that's part of camping!
