Friday, March 18, 2011

Deacon's Labwork

I left a message with Deacon's Epileptologist this afternoon to see if anything had come back regarding his labwork. A couple of hours later the doctor called with some of the results.

His Organic Acid level was elevated. Normal level ranges from 0-6; his was 14. She said that this is the second time he has had this test, the first time it came back at the top of the normal range of a 6. The high level indicates a metabolic issue that causes an enzyme deficiency preventing him from absorbing the vitamin his B12. This very well could be the culprit for the seizures and developmental delays.

Our doctor said that labwork could have errors from a number of things, for example the length of time it took for it to be processed or the sample drawn, so wanted us to get more testing done to check the validity of the results. We went TODAY for more bloodwork and the lab told us it will take 3-5 business days to hear back.

We are praying the deficiency is the cause. If so, we will be referred to a Geneticist and Deacon will be given something either to help him absorb the B12, or injections of the vitamin itself. This could mean that his struggles with Infantile Spasms may disappear!

I am trying not to get overly excited because I know that the results could come back with no metabolic connection or that this could mean a whole other set of issues. But I am hopeful that this could be the answers to our prayers.


Sophie's Story by Elaine said...

I hope the waiting isn't too unbearable. I hope this is THE answer. I don't know the difference between B6 and B12. But a B6 defiency is a known cause of Infantile Spasms. I would definitely be calling the doctor on Monday afternoon to see if he got the results yet.

In the meantime, if you want something to google... we tried P5P (pyridoxal 5 phosphate) with Sophie. Let me try to explain this right... B6 is converted to P5P in the body. But for those individuals who do not have the right enzymes to convert B6 to P5P, they can take P5P directly. So I am sure there is probably something like that for B12. I can't wait to hear about the results.

blogzilly said...

Any news yet on this? It's been around 3-5 Business Days (I think.)