My Child - the most 'normal', medically abnormal child out there

Two weeks ago we had a metabolic appointment and finally got the results from Lyla's liver, skin and muscle biopsies she had done back in June; the results were just as I expected - 

all normal!  

I'm have copies of the reports, none of which I can interpret by myself, but from what I was told some of her results did come back higher than 'normal', but not so abnormal that it would suggest or direct them to a diagnosis.  Her liver, which has been a bit of a concern to doctors (large, extremely high LFT, discoloured, etc) came back as slightly fatty; but once again nothing to worry about.  This was a relief to me, especially after hearing the surgeon who performed Lyla's gastrostomy, say her liver looked very unhealthy.  This made my brain go into overdrive thinking she is going to need a liver transplant, etc, etc.  Thankfully that's not the case. 

So what's next?  Her metabolic doctor will have a meeting with her neurologist and geneticist to see if she can have whole-exome sequencing genetic testing done.  Exome sequencing is a new, very sophisticated and quite expensive genetic test, which requires bloods from child and parents to look thoroughly through the DNA finding any defects and genetic disorders; this is our best shot at the moment.  Fingers crossed we get the green light for this.



Jess