Cornelia de Lange Syndrome? Ethylmalonic Encephalopathy?
Posted Aug 05 2010 8:25pm
We had our every 6 month metabolic appointment today, but our metabolicist is on vacation. To TIBET? LOL So we saw a new metabolicist who we have never seen, but I instantly liked. I had written down two things before our appointment - cornelia de lange syndrome, and ethylmalonic encephalopathy. The first two things HE asked about? Those exact two! It was sooo weird. Emily's nurse just