A visit with our Metabolic Specialist

Jenelle was seen by her Metabolic doctor, Dr. Richard Chang, at CHOC on Wednesday and I must say this guy really impresses me! Brett had a client appointment so he couldn't come with me. He was joking with me that morning about how he wouldn't miss having to hear the "there is nothing more we can test for" speech. Boy, was he wrong! This doctor spent over an hour talking to me about Jenelle and various tests results and such. It seems we have a plan, and there are still some tests to be done.

If you recall, we last met with Dr. Chang in January where he ordered many tests on Jenelle including Fragile X, Amino Acids, Carbohydrate Deficiency and another chromosome panel and some other tests. Nine vials of blood and some urine to be exact. All of the results were normal. When I spoke to Dr. Chang in March, he wanted to wait for the Rhett results from UCLA, as well as for copies of Jenelle's medical records from UCLA. Apparently they sent him 3 inches of documents, and he has a lot of reading to catch up on with Jenelle. We discussed her improvement, and some new symptoms and he believes there are more tests we can run. Dr. Chang wants a new MRI, PET Scan and to order another spinal tap. All of the possible tests he mentioned had really strange names, and I honestly can't remember what they were for. One is a new genetic test for a different type of autism found only in girls without speech, and another will test how her body breaks down proteins. That was all I could remember.

We see Dr. Shields in August, and Dr. Chang would like to work with UCLA on the MRI and PET Scan as CHOC does not have the appropriate radiologist needed for the specific test he wants to order. In the meantime, Dr. Chang spoke to our insurance, and all tests have to be approved first, so once again we have to wait. The problem is that our insurance is limiting him to "one test at a time" so that he doesn't incur too much cost to them should he happen to pick a test that actually turns out positive. Interesting theory - but what about all that poking and prodding to Jenelle? Regardless, once we have authorization these tests could take 4 to 6 months to complete, so at least our girl gets a break on the prodding. I like that he is willing to work with UCLA, and that he is so through in his review of Jenelle. I think we've finally found the dedicated metabolic specialist we need to keep trying to find an answer.