Doc had me see a 5 day old yesterday, I love those visits. Just checking things, making sure everything's working out. He then gave me a 6 month old patient with developmental issues. The infant was at the level of a 4 month old, with some musculoskeletal and other developmental issues. I noticed almond shaped eyes but ... anyhow, when we went in together, he showed me how it's done. He was very calm and cool, pleasant, and then asked, "so whose eyes she got, she got Daddy's eyes?" in his Italian way. The mother and aunt said no, and he just smoothly then asked if there had been any genetic testing? No. He said he wanted a CT of the brain, and that he also wanted to test for Down's. He broke it to them very coolly, basically. They were so down, it was hard for me. I noted her improvement since the report of the last visit, where she had obviously gained strength, but they kept shooting it all down as not meaning much. I disagreed with them, saying that it meant more than they were making it out as. You couldn't tell in usual ways when she was smiling and laughing, but she still made it obvious when she was. They knew that, and it was obvious that they still loved her very much ... it was just a big disappointment with daunting overtone.
So, I went into the big texts and looked up all the genetic defects possible. I searched and searched for anything else it could be, something less major. I searched my handheld device that I enter all the patients I see into, and searched for something like, 'developmental delay'', anything that could offer better hope. Well, when I got home I searched Down's syndrome and pulmonary issues, since the baby's lungs had sounded like bellows. Sure enough, a majority have them. So, I gave up and went back in and changed the diagnosis officially to Down's. It might actually be Mosaic Down's (she didn't seem to fit all the criteria for Trisomy 21), those individuals tend to have IQs 10-30 points higher than those with Trisomy 21. Either way, there's hope.
The whole thing was like the antithesis of the 5 day old who was the perfect little baby. Still, altho their lifespan is sometimes relatively short due to oftentimes having congenital defects, with therapy and work Down's children can grow into productive people all their own. Some go onto independent living situations. Some have even won best actor awards (Cannes, BAFTA). I hope I was able to impart some hope and caring to that family's darker day. I hope I get to see them again so I can relay all the information I've learned since we saw them.
Anyhow, I've worked in and around Emed for so many years now that it was the majority of what I knew clinically. But I knew by the end of my second day on this rotation where my calling lies. I had a feeling before even starting that this would happen, and it did. Not to say that I won't work in the ER as well, part- time. Anyhow, let me work on graduating and getting my license before I start working anywhere at all ;) But it's almost as if my appetite for medicine has been whet all over again. Not only do you get to practice medicine with all the age ranges up to adult, you get to work with their families. You're there to help drive an important point home that the parents have been trying to impart with their child not listening. And likewise, you're there to help block some of the blows parents can sometimes unwittingly impart towards a child who is simply beginning to explore life as a young adult. And most important, I get to cure pneumonia. I'm home.
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