Elise Claire Engle was born December 28, 2011 and is our hearts wrapped in a pudgy little body. She was diagnosed with SMA Type 1 at 3 months.
Elie was born with an APGAR score of 8-9, beautiful and bigger than we expected. She had a bit of a rattle when she breathed sometimes, to which our pediatrician attributed to Tracheomalacia, a common underdevelopment of the trachea. We were told she’d grow out of it as her cartilage built up. We went on about our days with our beautiful baby girl.
At her one month check up the nurse and doctor noticed that she was ‘belly breathing’, using her diaphragm instead of her lung muscles. He referred us to a pulmonologist at Scottish Rite, but under no emergency. We were unable to get an appointment with Dr Graham until 3 weeks later. In the meantime we took Elie on a roadtrip up to meet her family in Charlotte and Virginia. It was a great trip. The long car rides were horrible on her breathing, though, causing us to stop frequently for breaks and concerning us even more.
Back home a week later we finally got the pulmonologist. Dr Graham was the first to mention that she appeared to be ‘low tone’. I remember asking him, ‘You mean the tone of her cry?’… geez how clueless I was. We didn’t know any other babies her age, so we had no idea that others weren’t as floppy as she is. We knew she was supposed to be able to hold her head up by then, but just thought she was a bit behind. So Dr Graham scheduled us for a lung xray and swallow test for that week.
We came back to the hospital in good spirits. She looked good on the lung xray, so we headed to the swallow test. They sat Elie up in a chair and I feed her through a bottle while they watched on xray. I remember joking around during that test too. The technician seemed all too serious though. And then she told me that Elie failed everything and she would be admitted to the hospital and put on a feeding tube. That was the last time she ever ate by mouth.
We spent 4 days at Scottish Rite, being evaluated and assessed. She had an MRI which came back normal. We were so relieved. Then the Neurology team came by… Something seemed to worry them, but they said nothing besides how low tone she appeared, took lots of blood and left us concerned. We were trained on using the feeding tube and sent home to wait for results with nothing more than the symptoms of a dysfunctional swallow and hypotonia.
The week and a half afterward we worried, but concentrated on the solvable possibilities. I shouldn’t say ‘concentrated’, we flat out ignored the unfixable. Elie seemed to improve dramatically, but maybe we were just reading into each movement, each smile.
Our pediatrician left us a message the next week that terrified us, softly demanding that we come into the office that day. We showed up worried and he asked us if we had ever heard of Spinal Muscular Atrophy. We had not. He told us the prognosis was two years. (Later research let us know that 2 years is very optimistic).
The following days we spent in horror and shock. Waves of which are continually hitting us.We are up, then we are very down, then optimistic, then angry, then manic, then immovable. How could we never have heard of this? How could there be no muscular specialists in Atlanta? How could this not have a solution? How could this happen to such a beautiful baby? There are no satisfying answers.
This blog is intended as therapy for us and a news line for you. Thank you for your thoughts and support.