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  #34  
September 28th, 2009, 01:39 PM
proud momma proud momma is offline
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Join Date: Sep 2009
Posts: 3
Hi Everyone,

I wanted to give an update after my last post. We were able to get in earlier than October to see the Geneticist. He was a total jerk and completely blew us off because my son seems so healthy. One of the many things he said was along the lines of why are you so concerned about this body odor? I can't smell it from where I'm sitting so it isn't offensive to others. He also said "how do you know other babies don't have this odor? do you go around sniffing their armpits?" He said if we wanted, he could do some testing but he didn't really act concerned or interested. We asked if he would test his son in this situation and he said no. He recommended just watching him and if he starts having developmental issues, then testing him at that point. Needless to say, this guy was a jerk and we won't be returning to his office. By the time I got home, I decided I wasn't going to accept what he said because I wanted to know why my baby stinks.

I made him an appointment with my dermatologist. I bathed him on Monday at 8pm and our appointment was Wednesday at 10am. She took one whiff of his underarm and said "oh no, he should not have that odor." She did not recommend waiting to see if he starts having developmental issues because, if there is something going on, it could be damaging his liver. That same day she consulted with a Pediatric Geneticist at Children's Medical in Little Rock who told her what tests to order, which were all urine tests. Later that day, it occured to me that my aunt had died at the age of 11 due to a liver issue about 50 years ago. I contacted my dad and found out that she had Wilson's Disease, which is a genetic condition. I called my dermatologist back and told her this information so she added a bunch of blood work to the lab order.

The dermatologist's office called today to let me know that the blood work was back but they were still waiting on the urine. They wanted to fax the blood results to my pediatrician because some of them were out of range. The red blood cell count was low. I think she said Albumin was high but I can't remember because I was focused on what she said about the the copper serum, which was low. From the research I've done online, Wilson's Disease is where the body doesn't excrete copper because it's low on or missing the protein that attaches to copper and excretes. From what I've read online (I know, that's a bad thing to do... :-)), they do multiple tests to check for Wilson's, which is a rare disease. One of the tests is to check copper serum and low results may indicate Wilson's because the serum (there's a longer word for it) is the protein that attaches to copper for excretion.

Anyway, we don't have a diagnosis yet and a lot of this is what I've put together, but if we do end up with a diagnosis of Wilson's, everything about the odor would make sense. I realize this is a lot of speculation on my part, but I guess I just needed to share with someone. The good news is that Wilson's is very treatable and people with it can lead normal lives, as long as it is caught early enough.

Sorry for the long post but thanks to anyone who is listening. I will keep you posted with what happens.
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