Benson and Claire were born with a rare genetic disease in which their liver produces too much oxalate--called primary hyperoxaluria. Claire's condition has progressed much faster than Benson's. She was on dialysis since she was 3 months old and for much of that time, did dialysis 3 hours a day, 6 days a week. She receive a much needed kidney / liver transplant on December 18, 2009. It is expected Benson will eventually need similar transplants.

Thursday, August 6, 2009

Claire and Benson were both born with an extremely rare genetic mutation in their liver that produces an excess amount of oxalate in their bodies. This disease is called Primary Hyperoxaluria Type 1 (PH1). Oxalate is a normal byproduct of metabolism and is found in all of our bodies. But our liver only produces a small amount. Their liver doesn't. Normal oxalate numbers are around 1.8. Claire's oxalate average between 70 and 80 and have been as high as 159. Benson's is around 12. So what does excess oxalate do? It destroys.
The kidneys are the first to go because it is their job to filter waste from the body. In that filtering process, it can only handle the overload of oxalate for so long. The oxalate causes the kidneys to crystallize and eventually fail. Claire has had kidney failure since she was 2 months old and has been on dialysis ever since. Significant oxalate deposits have also been found in her eyes, bones and other organs.

Claire is currently on dialysis at the Children's Hospital in Denver Colorado 6 days a week for 3 hours each day. Sunday truly is our day of rest! Along with that, we do a different kind of dialysis, called peritoneal dialysis, at home. She gets that done every night of the week for 12 hours, while she's sleeping. Claire is connected to a dialysis machine 15 hours a day just so she can live another 24 hours!! Dialysis 24/7 would be ideal to remove the oxalate that is constantly building up in her body. Obviously, that is not possible. So we do as much as we can.

The ultimate cure: transplant. For Claire, getting a new kidney or liver alone will not solve the problem. She needs both. A new liver will stop the excessive oxalate production and a new kidney will enable her body to cleanse itself. Claire is currently on the Mayo Clinic transplant list to receive a liver and kidney.

The disease advances differently in each individual. Luckily, Benson’s condition hasn’t progressed as quickly as Claire’s. He is currently being monitored and treated with several medications in hopes of slowing the process of kidney failure. He is also encouraged to drink lots of fluid to help keep the kidneys clean. In the future, Benson will likely need the same procedures as Claire.
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