Genetic Studies

Well, we finally got word on the long-awaited genetic studies.

They indeed found the missing gene in Claire that is causing this defect in her body and unfortunately they found the same missing gene in Benson. Our sweet Benson boy has the same thing. But how grateful we are to know and begin to be proactive about it.

As of now, Benson's kidneys are still functioning normal. In fact, the average age for people with this condition to get kitty failure is around 30 years old. Claire is the youngest person ever to have kidney failure from this condition. Before her, it was six months old. The oldest person ever was 70. Can you tell your is the first sign of trouble. So Benson could be fine for another 30 or so years! Or it could happen tomorrow. There's no rhyme or reason why it happens when it does. So instead of putting him through a transplant right now, when he could be fine for a long time, we're just going to keep testing his kidneys every three months or so. As soon as they start to show signs of failure, then will look into doing the liver transplant and still try to save his kidneys. So I guess we'll just have to live on the edge of our seats for the rest of our lives, never knowing when it might happen!! Ha ha ha! Funny, but basically true! He's taking the same B6 vitamin to help get the oxalate out of his body, just as Claire is. He does have a slightly elevated oxalate level, around 9. Normal in you and I is below 2. So that shows that something is beginning, but not progressing at the elevate rate Claire's is.

The plan with Claire is still the same. Try to get her as big as we can so she can get her combined kidney liver transplant when she's 25 pounds. She's pushing the 12 pound mark right now so we're almost halfway there! She's up to 12 hours on peritoneal dialysis and they may end up pushing that to 14 hours if we can't get her offsite number below 50. Right now it's 65, so we're praying for 50 next Monday when we test her again. Still doing tests on other parts of her body (eyes hearts and bones) to make sure the oxalate isn't damaging other areas in her body.

Just the normal stuff going on here!!!  But we are very glad that we were able to find the missing gene in their blood and not have to put either child through a liver biopsy to confirm this genetic disorder. 

Always gotta look for the silver lining on each beautiful, fluffy, (dark) cloud!