Saturday, March 10, 2012

Another diagnosis to deal with.....

Well, we are dealing with a new diagnosis as of March 1st.  Dakotah has a genetic disease/disorder called Hyperoxaluria (detailed info can be found at www.ohf.org).  Basically her liver is missing an enzyme and this is causing too much oxalate in her body.  She will have to undergo a liver biopsy to determine which enzyme is missing and that will also determine if she has Type 1 or Type 2.  She currently has her 2nd kidney stone (1st one was when she was 8 yrs old) and this time her pediatrician referred her to a nephrologist 1st instead of directly to a urologist for treatment of the stone.

The nephrologist wanted to find out why she keeps getting stones (the first stone was attributed to her seizure medication, Topamax, since that is a side-effect - although now we know that was not the case).  Thank goodness he wanted to do further testing.  She was cathed and had a foley for 48 hours to collect 2 24 hour urine samples.  There were several issues with the results but the most significant one was her oxalate levels.  Everyone excretes oxalate in their urine - it is a byproduct of metabolism; however, the normal levels should be 20-40 mg/24 hour period.  Dakotah's levels were 134 mg (1st 24 hrs) and 120 mg (2nd 24 hrs).  This is very, very serious and this is what is causing the kidney stones.  This will also eventually lead to calcification of the kidneys resulting in renal failure.

The only "cure" is a liver transplant.  All the literature says that a pre-emptive liver transplant is best because the person can keep their own kidneys if the bad liver is replaced with a good liver before renal failure.  If she has Type 1, the Dr. is going to try her on prescription strength Vitamin B6. This has been found to be effective in reducing the oxalate levels 30% of patients for a period of time, but transplantation does end up having to occur, it just buys some time.  If the oxalate ends up getting into her blood, it can get into her organs (including the heart and can cause heart issues).

For now she is on almost continuous fluids (including water throughout the night).  This won't reduce the amount of oxalate being produced but will at least hopefully get it out her body faster so it doesn't have the chance to form more stones or calcify her kidney(s).  She is also on 2 new medications/supplements 2x per day - Polycitrate K and Calcium Carbonate. She will see a urologist to have the kidney stone broken up into pieces via Lithotripsy (a same-day procedure done under anesthesia) so she can pass it.

We see the nephrologist again on 3/20.  I have so, so many questions now that I have researched this horrible disease.  I know this will sound terrible, but I thought 14 years ago that my sweet girl was given her death sentence when she was diagnosed with Aicardi Syndrome.  Now I am devastated knowing that the Hyperoxaluria is actually a faster death sentence and one that is almost certain if she doesn't get a liver transplant.  Please pray that they don't try to exclude her from having a liver transplant because she has Aicardi Syndrome.