Concern About Rebecca

Keep Rebecca in your prayers this week. Sunday night, Ramy and I started noticing that Rebecca's skin smelled like vanilla. Very odd. We noticed it Sunday night and then again Monday afternoon, night, and Tuesday morning. I emailed Dr. Swogger (Nashville pediatrician) and she was concerned and wanted her to come in right away. So I took Rebecca to a pediatrician at Loma Linda. He ran a panel of bloodwork to check for metabolic disorders, fatty acid disorders, and amino acid disorders. He also ordered a urine sample (great fun). Any time a baby smells like anything like that, they are concerned about a possible metabolic disorder. Most specifically, for her, they are concerned about something called Maple Syrup Urine Disease. Literally, in these babies, their urine smells like maple syrup, because they don't have the ability to break down certain amino acids in certain types of protein. It is an extremely rare genetic disease (1 in 200,000 in the US are born with it), but it is more common in Filipinos (1 in 100 Filipinos is a carrier for it - both parents have to be a carrier in order for the baby to have it). Usually, babies who have it start having problems and die within the first week of life if untreated. Now they do a routine screening for it and a gazillion other diseases when babies are about 24 hours old. Rebecca had that screening at birth and there was no indication of any problem. However, there is an intermittent form of the disease that can show up periodically and can be missed by the newborn screening. Treatment means avoiding all protein and special medication and supplementation of the specific amino acids they need. Untreated or with poor treatment, it can cause mental retardation, seizures, and death.

So we're worried. However, the fact that it really isn't her urine that smelled like vanilla is a good sign. And it really wasn't classic maple syrup scent - it was vanilla. Plus, the fact that her newborn screening showed no signs of problems is also good. Also, before we got her to the doctor on Tuesday, we stopped smelling the vanilla scent and we haven't smelled it again since. Rebecca also hasn't displayed any other symptoms that usually go along with MSUD. The doctor said there are all kinds of things that can make babies smell a certain way with no real explanation, but as long as there's no metabolic disorder, it isn't something to worry about. It will take up to a week to get the amino acid bloodwork back, so we're anxiously awaiting those results. I, of course, have completely panicked. Ramy, very much like my dad, refuses to worry unless and until we know there is something to worry about. Maddening.