We met this morning with Dr. Chang, Jenelle's metabolic doctor from CHOC, to get the results from her spinal tap for Neurotransmitter Disease. As predicted, Jenelle does not have Neurotransmitter Disease. As you can imagine, we are slightly disappointed. All of the test results were normal. Dr. Chang joked that he hoped we weren't mad, and Brett responded in kind saying we might have been more angry if the test had actually been positive as we're so used to not knowing the answer. So, we have ruled out another possibility, and that helps us move forward. Our next step is that Dr. Chang would like to order an MRI/MRS of Jenelle's brain, brain stem and spine. He would also prefer the MRI/MRS be done at UCLA, so now we start the process of getting that approved by insurance. We meet with Dr. Shields next month, so that will be on our list of things to discuss. The scan would need to be done with sedation, so we'd be looking at another outpatient/short stay procedure, and most likely, later this spring.
More big news in the milestone department... Jenelle is walking! She is very wobbly at times, but she is walking! At daycare she can move from couch to couch, and room to room by taking steps. She can stand in the middle of the room without any support and stand from a sitting position without holding onto anything! She can walk barefoot, or with her AFOS - sometimes a little better with the AFOs. I am going to talk to her school about getting a walker. Monday night, Jenelle walked across the room to me for the first time. It was so surreal. She was leaning on the couch, and I was at the table going through mail, when all of a sudden she walked to me making it just two steps shy of all the way! I just can't describe it well - it was simply amazing. I showered her with kisses and hugs for at least 5 minutes and she seemed very proud of herself.
When we told Dr. Chang about her walking, he was very excited. One thing to remember in all this testing is that Jenelle continues to improve, meet new milestones, and has not plateaued or regressed in any way. This is encouraging. A while ago, Dr. Shields suggested that it was very possible that all of Jenelle's problems stem toward something that happened during my pregnancy. She may have lost oxygen or something didn't develop correctly, etc. It is possible that she may only have brain damage, and no other diagnosis beyond that. This is why we are moving toward a new MRI. Her last MRI was in 2004, and as she has gotten older and her brain has grown larger, damage may finally show up on an MRI. Dr. Chang also believes that we may be to the point where we can also rule out a metabolic diagnosis. If the MRI is normal, he said we may once again be looking at mitochondrial disease. Mitochondrial disease is tested with a muscle biopsy, and we are not convinced we need to put Jenelle through such an evasive procedure. Especially when the outcome would not lead to something that is treatable nor could it improve her quality of life.
So for now, things are fantastic as Jenelle keeps improving. I think our next best test will be the MRI. In the mean time, we love watching her explore her world as she learns to walk.
Thank you for your continued thoughts and prayers... and your praise! We love sharing our amazing daughter with you! That is all for now, I'll keep you posted!
Thursday, February 14, 2008
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I AM SO HAPPY FOR YOU!!!
Sad that there is still no "diagnosis" but she is WALKING....VERY COOL!!! Yea!
I'm so glad about the walking!
I agreed with you regarding the evasive procedure of muscle biopsy. We allowed our daughter to receive it since she was already having surgery...and sure enough that came back NORMAL. Geez! I love your site, it give me hope for my daughter who may be able to accomplish some of the things Jenelle is doing! : )
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