Post by nicoleh on May 14, 2013 17:07:15 GMT -5
Hi All,
it's been a long time since my last thread so I thought I"d start another.
We have finally been given a presumptive diagnosis of HFI by my daughter's renal physician. Her serum bicarbonate dropped 2 points after eating fructose and her serum lactate and anion gap elevated. Plus there was some protein in her urine. Still waiting on a couple of other results but there's enough evidence to diagnose now and the renal physician has.
He has sent us back to the metabolic doctor but we can't see him for a month, so in the meantime he gave us the DNA test form and that's been done. It's being sent to Sydney where they do 3 mutations, so I am praying that she has one of these 3! (otherwise we have to debate spending a LOT of money on a full gene screen. Hubby wants DNA confirmation, I'm happy with what was essentially an informal fructose tolerance test last week (accident)).
The ironic thing is that it's taken longer to diagnose than it should have because her urea and creatinine were so elevated. The metabolic doctor considered this to mean she had something other than HFI as it's not normal in HFI for these to be up. so he sent us on to a renal specialist with a message that DD didn't have HFI (though she was untested). Turns out the urea and creatinine were only up because she was having too much protein and once those results were eliminated, her blood tests are classic HFI and the renal specialist sent us straight back to the met doctor!
Now just a 4 week wait for DNA.....
it's been a long time since my last thread so I thought I"d start another.
We have finally been given a presumptive diagnosis of HFI by my daughter's renal physician. Her serum bicarbonate dropped 2 points after eating fructose and her serum lactate and anion gap elevated. Plus there was some protein in her urine. Still waiting on a couple of other results but there's enough evidence to diagnose now and the renal physician has.
He has sent us back to the metabolic doctor but we can't see him for a month, so in the meantime he gave us the DNA test form and that's been done. It's being sent to Sydney where they do 3 mutations, so I am praying that she has one of these 3! (otherwise we have to debate spending a LOT of money on a full gene screen. Hubby wants DNA confirmation, I'm happy with what was essentially an informal fructose tolerance test last week (accident)).
The ironic thing is that it's taken longer to diagnose than it should have because her urea and creatinine were so elevated. The metabolic doctor considered this to mean she had something other than HFI as it's not normal in HFI for these to be up. so he sent us on to a renal specialist with a message that DD didn't have HFI (though she was untested). Turns out the urea and creatinine were only up because she was having too much protein and once those results were eliminated, her blood tests are classic HFI and the renal specialist sent us straight back to the met doctor!
Now just a 4 week wait for DNA.....