Waiting nervously

I have a tip for doctors everywhere.

 "Don't have your nurse call to tell me that you have looked at Spencer's heart scans and echocardiogram and that you will call me later to discuss the results!  That's sort of a mean trick, especially to a mom who already lives on the verge of a breakdown of one thing or another, mostly the one nerve that is dangling by a shredded filament of sanity.  How about this, just call me.  Don't give me a warning call that the big call is coming! And, don't mistake my easy going, flippant attitude when we met in your office last week to mean that I have everything under control, because I don't.  It's just a little something I do to keep my kid from panicking and to keep myself from falling apart in front you because my emotional braking system has been frayed beyond recognition."

Good grief...

In the meantime, I have been trying to figure out if SDS kids have a predisposition to hyperlipidemia.  My hunch is that they do.  So far, a few families have confirmed that their kids have been flagged as having abnormally high lipids.  Kids...with high lipids!  Not right.

The wonder of all this is that I stumbled upon a study that has linked hyperlipidemia to carotid artery murmurs to glycogen storage disease and elevated lactic acid levels and creates all the symptoms that Spencer is experiencing!    Of these things, the only thing he hasn't been confirmed with is glycogen storage disease but I won't be surprised if they find this because it even describes what Spencer was like as a baby, having seizures, turning blue...scary stuff.  

So, what is glycogen storage disease?  Well, it's a mitochondrial disorder and wreaks havoc.  So, I am waiting not so patiently.  It's another one of those days when concentrating on work is going to be next to impossible until I get that call.

I am amazed when I see how God leads us along little by little.  One thing leads to another...and another and hopefully, in the end, we will be able to not only treat my own kids better but help others so they don't suffer for 18 years or more without answers.



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