Overwhelmed and Unprepared

I took Addison to Columbus on Tuesday for what was supposed to be a typical GI clinic visit with our specialist. She asked me about how everything has been going the past couple of months, and then reviewed the test results from the surgical biopsy Addison had done a few weeks ago. She examined her and I waited for the usual, "Let's just keep watching her and hopefully things will really start to turn around soon!"

Instead, she said we have exhausted every test, every possibility from a GI standpoint, and now its time to step back and look at the larger picture of Addison's well-being. We talked about her development, her sleeping and eating habits, and the doctor began to talk about neuromuscular disorder and something called Mitochondrial Disease. She talked about a muscle biopsy, geneticist, full DNA analysis....she said there are two great Mito specialists in our area, at the Cleveland Clinic and she thinks its time we begin to evalute her for that. She ordered bloodwork - 9 tubes and it took just about forever to get enough blood out of her to do it all.

After examining her she told me Addison has Global Delays - the ONE thing we have always been so optimistic about - her development. But recently she has stopped talking, stopped most of her babbling, and is starting to show signs of muscle tone issues. The doctor said she's no longer on target with her peers and that we need to enroll her in Physical Therapy and Speech Therapy as soon as possible.

I know Addison's delays aren't nearly as severe as some kids but the way they described it to be is that her condition may cause degenerative spells, where with each illness she will lose some tone or neurological advancement. Because she is so young, it will be hard to diagnose anything.... She is much younger than many of the kids who undergo testing for Mito and these other rare genetic conditions.

But I am glad to know the sooner we have answers, the sooner we can prepare and begin whatever treatments may be available to us.

I just got off the phone with Columbus this morning and one of her bloodwork tests from Tuesday is abnormal - the Lactic Acid levels. There is a strong link between this and Mitochondrial Disease but there are other reasons it could be elevated too. Just one more piece of the puzzle, but hopefully it will push someone to help us figure her out. We are awaiting appointments at the Cleveland Clinic, and October 13 is our 2-3 hour consultation with the Clinic for Genetic and Metabolic Disorders at the Children's Hospital of Michigan.

I haven't posted any new photos for awhile, so be on the lookout for those!