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maple syrup?

Posted Oct 04 2009 11:12pm
I somehow managed to work myself up into a complete frenzy yesterday morning..

Those stupid high-dollar Huggies are not doing their only job -which is obviously to contain the contents!

And because of our little accidental leakage, I had to change Austin's tee-tee ridden crib sheets...

Only to get the strong whiff of maple syrup...That totally took me by didn't smell like urine at all. I made Chad take a sniff too. He agreed.

I thought about it a strange that was. Then I remembered reading a while back about Maple Syrup Urine Disease (or MSUD). It's a metabolic disease that kids are sometimes tested for with IS. I started to panic and went straight to my medical library (aka the internet)...

Totally freaked, I called the neuro first thing yesterday morning. Even freakier...they returned my call within 20 min!!! They told me to take Austin to the pedi to be evaluated and have 2 tests done. A serum amino acid and urine organic acid test. One was a blood draw, the other was a urine test (which by the way took a bottle of juice, a bottle of milk, and an hour for him to "perform")..

Coincidentally we had our 18 month well check that same day, so I was able to wrap it all into one visit (I know they're just loving me for that too).

It's strange how much things have changed for our well visits lately. I used to go in armed with a list of urgent questions... Why is he spitting up? How much formula should he have per feeding? Just exactly how many jars of baby food should he eat a many of each?What color poop is normal...and consistency...? I was poster child for new motherhood! Now, I realize I might have been overreacting just a tad (ya think?)...if things weren't going according to my trusty Baby 411 book, I was a basket case!!

So, yesterday and even our 12 month visit went quite differently. I had no questions regarding feeding, poop, or even sleeping. No questions about getting him off the bottle or transitioning to a cup. All those issues that were SO VERY important pre-IS, were no longer in the front of my mind anymore. I was the one talking most of the time. I'm very much aware of what he should be doing and what he isn't. Just walking into the waiting room of the office reminds me of that. I just went down the list of new goals we've accomplished and what we're working on. There was no waiting for his approval. There was no waiting for suggestions or comments. I didn't complain about the trouble we've had with his eating or communication. Rather I joyfully announced that he's finally self-feeding and that he's starting to clap and reach for me. Forget about how long ago he should have achieved that goal...I was a proud mommy that he's doing it now!

Anyway, back to the point...I'm still waiting on the results from the tests. I'll be impatiently waiting until I hear back from them....even though I'm starting to get more confident that he does not have MSUD. There are I think four different classifications for the disease which range from very severe (which is almost always detected within the first week of life) to the mildest form, intermittent. The intermittent is the only category he would possibly fit. Really, the only symptom he even has is the smell of the urine (which *fingers crossed* may be explained by something simple). Plus, it's an extremely rare genetic disease...chances of him having this are very low.

I'm optimistic that this will end up being nothing more than crossing one more underlying cause off the list. Better to be on the safe side, I guess. It certainly wasn't something I could ignore after reading the severity of the disease.

I'll let you all know when I hear something...
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