Samuel's life seems to be a roller coaster. We are always up, down, or somewhere in between. While I was in Atlanta with Jennifer, Kris got a call from our doctor at Emory. Samuel's latest urine catch was in and his oxalate levels are very very high again. They are double what they were in Feb. of this year. I am so glad Kris was here and was able to intercept that call for me.
Our Doctor at Emory and our Mayo clinic doctors in Minnesota believe Samuel now needs to have a liver biopsy. We have always known this was a possibility. It is the only way to diagnosis Primary 1 or 2 hyperoxaluria 100%. Samuel has already done genetic testing with Mayo, and they did not find any mutations that are normally associated with primary 1 or 2 hyperoxaluria. But the genetic testing is not 100% at the point. So currently Emory is setting up the biopsy and will let us know the date as soon as they know. The biopsy will be sent to London (only place in the world that diagnosis this through liver biopsy) and the liver will be looked at for various enzymes that would affect oxlate levels.
Hyperoxaluria is so complicated. There are basically three types of hyperoxaluria right now. The first two are Primary Hyperoxaluria 1 and 2. Both of those involve the liver enzymes not functioning correctly causing too much oxalate to pass through the kidney's. The third group is a big question mark. This is where Samuel currently falls. It consist of people with high oxalate levels but the problem doesn't seem to be from the liver. Samuel is also throwing doctors for a loop because his levels seems to be very inconsistent. He always has high oxalate but sometime they are ALOT higher than other times.
I am so thankful Samuel is not in pain from this on a daily basis. And I am so thankful he is not producing stone after stone. But the reality of this horrible disease is that when oxalate passes through your kidneys it causes damage whether it is in the form of a stone or not. And over time kidney function is compromised.
The road ahead for Sam literally makes me sick to my stomach. We are still awaiting a family urine catch from Mayo. Since this is a genetic disease, everyone else is being looked at. I am very anxious to get that back. Please pray for Samuel. Pray wisdom for the doctors and for Kris and I as we continue to make decisions regarding Samuel's health. I will let everyone know a date for the biopsy when we know one.
For more information on hyperoxaluria, check out my link to the hyperoxaluria foundation at the top right of my blog.
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