August 2007

It was a good thing that in Jan. 07 we have moved to a new area. L would be ill a few more times…with the vomiting and being extremely lethargic..

In August it came to the point that L was almost not responding, and we took him to the ER. They did the usual, hook im to an IV and took down some notes of what we described..they took blood and gave him a physical. The peditrician noted some differences in the amino acids and was concerned enough to have him admitted for an overnight stay. They brought him food which he didn’t keep down..and so the journey began in the discovery of what is wrong with L.
The next day due to his normal state he was released. Things were so-so…L started school but it was but two hours later they called me to pick him up…something was wrong. I called the ped. and took him in..during the trip into town, L vomitted some more. We waited for awhile at the ped office..who referred us to UVA. In the Er..again the IV…the blood tests…and the description of what we saw and admitted to the hospital.

Diagnosis:

L has Urea Cycle Disorder

We are told that normal ammonia levels should be around 30-60 but that L’s were in the 450’s. Essentially this could lead to coma and/or death. It causes brain damage, delayed development and more if left untreated and undiagnosed.

L was placed on IV meds, transferred to the PICU. There we spend about 5 days until his levels were below a 100 (his safe zone). He is placed on a low protein diet (15-20 g per day) and has to take medication as well as drink an ammino acid formula.

As his levels stablized we were released to go home. It wasn’t even 24 hours when L woke up disoriented (so it seemed) in reality he had just lost his vision. And it was back to the hospital. The MRI indicated that L has several edema’s on his brain…one right behind the opitc nerv and it is the assumption that his body attempting to get used to the normalcy in his chemical make-up with the medication..it actually went a bit crazy as the ammonia edema’s are trying to flush themselves out.

L was blind for 6 months – in which it seems that another hopsitalization with high ammonia levels did flush out enough so that the edema is less than before and voila he can see.

For more information on UCD go to http://www.ureacycle.com or go to http://www.nucdf.org

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