Doubt in HFI diagnosis

[Chelsea]

My head is spinning after the events of this last week. Gillianen awoke one morning with very ketotic smelling urine. So I dipped it and found +4 ketones which in the past has landed her in the hospital but this time she was feeling fine when it happened. Our pediatrician sent us off for blood work, leaving no rock unturned.

Part of the bloodwork was looking at inflammatory factors for juvenile rhuematoid arthritis since Gillianne has been complaining about her foot on and off for 4 months. The other part was blood vs urine testing for the suspected kidney disorder, renal tubular acidosis. Both of which were ruled out with the results of the blood work.

What they did find was that she has uric acid build up, low phosphorus and her urine creatinine was high indicating her kidney's are stressed. So what does all this point to? The uric acid in her blood could be causing gout in her foot which is the cause of the foot pain.

My pediatrician is now wanting to discuss with the geneticist the possibility she doesn't have HFI or FDPase but instead has Glycogen Storage Disease or potentially even both.

[Chelsea]

Kristen I just don't have many answers right now. We got the lab tests back end of last week and after discussing the kidney issues with the nephrologists they ask my Dr to run a uric acid test. That's when it all clicked with her. Uric acid, foot pain, gout, glycogen storage. So by early Saturday my Dr calls me at home to let me know. Then with the holiday weekend. Ugh. I suspect she will call me again tonight to give me the rest of the bloodwork nephrology asked for though I don't expect much.

She was going to wait until these come in to forward it all to the geneticist, whom I see next Tuesday. There is DNA testing for the glycogen storage, I don't know if that is standard in what we already sent there.

My Dr's really haven't been pushing for a liver biopsy. There attitude has pretty much been "if it walks like a duck and talks like a duck". I am leaning more that direction after hearing the glycogen storage is a possibility. If she does have it, I do again believe it is not as severe. One of the things holding us back is that she has always done well with breastmilk which is high in galactose. This diet would be no fructose or galactose.

At this point, it is just more waiting. I hate the waiting part.