A Never-Ending Nightmare

I feel weaker than I ever have in all of my life. There are days when I just want to ball up in a corner and fade away. There are days when I am mad at myself for doing this to my baby. And, there are days when I feel like I am stuck in a bad dream. Today is beyond that--today is a never-ending nightmare. One of which has drained me of all emotion and happiness.

The neurologist called today with the results of Brandt's blood work. Any of you who have had blood work done know that they never call you before the follow-up appointment unless there is a problem. While they are still waiting on some of the labs to come back, they got some results back that found that Brandt has elevated levels of acylocarnitines. The neurologist is referring us to a geneticist for further genetic counseling. He also said that a muscle biopsy would need to be done, along with additional blood work.

After getting off the phone with my husband and dropping off my students at resource, I walked in the front office door and broke down. I fell to the floor crying. The pot had been boiling for so long, and it finally came boiling over. At first, working seemed futile because I just didn't have the emotional mindset or the mental capacity to focus. Still, the kids got me through the day and kept me distracted from the realities I was about to face.

So, you must be wondering what is acylocarnitines? Well, me too! From what I was told, it is a genetic condition that can cause about twenty different disorders. (That's not much help.) Most of these disorders, however, have to do with how the body metabolizes food and makes and stores energy--which is directly related to muscle development. In many cases, these conditions have low life-expectancies. In others, it can be regulated with a strict diet and medication. So, it really boils down to what disorder he has specifically.

While there is hope that it can be regulated, that does not make the situation any easier to digest. My poor son cannot catch a break. So far, he has been diagnosed with horizontal nystagmus, hypotonia, asthma, and now this??? He has to be sedated for tubes, four MRIs, and a muscle biopsy--all at different times. It is so hard to go through it all, and most of the time I feel like I am going through it alone. I feel like I can't catch a break--like this is just one long, never-ending nightmare.