Wednesday, April 29, 2009

maple syrup?

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 surprise...it didn't smell like urine at all. I made Chad take a sniff too. He agreed.

I thought about it a while...how 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 day...how 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...

5 comments:

JSmith5780 said...

Holli- it is really funny you mention this. Austin was the SAME!!! Do you know how many times I asked about MSUP? His test was negative, yet we smelled it often. It finqlly went away. We never knew what is was. Perhaps medication related??? It was bizzare!

baby trevor's mommy said...

It's funny how the "important" things shift... Trevy didn't clap his hands until he was a solid 14 months old. And I remember being SO happy about it! It was almost a bigger accomplishment than his walking! Weird... Although I'll mention this just in case you're seeing something similiar with Austin...Trev clapped but his right hand was always slightly slower. And sometimes he'd miss the connection of the two hands. Our pedi sent him for an eye exam...which was perfect. But I've always been convinced that it was neurological...that his control of his right side is impeded by whatever is going on in his little brain... Anyway...

Hope you get the results soon...and that it's all good!

...danielle

Jamie said...

First of all..Pampers Cruisers..always swore by them..(LOL) and GEE WIZ maple syrup? yucky..hopefully things will be fine. I agree may be med related..sometimes madies "other stuff" smells funny as well..
Good LUck!!

Holli said...

Jen- That's comforting to know that it doesn't necessarily mean he has it...and if he doesn't maybe I won't seem like such a head case!! ;)

Danielle -That's almost exactly what Austin's doing! His little right hand never moves...I think he started out slapping it because of that "weird right hand thing", but we went with it and tried to help him transform it into a social clap. Now he's finally doing it at more appropriate times.

Jamie -Cruisers are my first choice..But for some weird reason, he's been breaking out with them. Still searching for a replacement..with no luck!

baby trevor's mommy said...

Actually...you know the picture of Austin on your front page. The one with you guys holding his hands...and he's standing in the middle? I know it might sound crazy...but Trevor does the same thing with his feet! And is VERY pigeon toed too. To the point that we were referred to an ortho...who prescribe torture equipment. A bar to wear at nights. We never did use it...sleep is already SO precious...we just weren't gonna mess with it. If it was going to make the diff between Trevy walking or not...of course we'd feel different.

Anyway...

The more time goes by...the more similarities I see in our little guys. Gives me that strange sort of comfort...and hope!

btw...we're addicted to LUVS! And I'm totally sure you know this...buuuuut...with the little elastic siding you have to make sure all the edging is out and not tucked under. We have tons of leaks before we figured that one out!

Still no word...ack!

...danielle