A preliminary diagnosis

I don't quite know what to say. The words won't come together and when I look up to try to find words, all I see is the whole room spinning around me.

We have a preliminary diagnosis of what Nathan has, but the elation I felt earlier because someone was actually confident that they knew what was wrong with my son was quickly clouded when I came home and looked up that diagnosis. It's not the news we were hoping for.

Nathan's neurologist took about 3 minutes of observation before he was pretty confident in what he has. He thinks that Nathan has Spinal Muscular Atrophy (SMA). All of his symptoms point to it...the biggest being his retracting and hypotonia in his trunk area (shoulders, upper arms, chest and back). He also has little or no reflexes in his deep tendons. SMA is a genetic degenerative nerve disorder, and there is no cure. It is fatal...usually within a couple of years when diagnosed this early. It physically hurts me to write that.

The neurologist's next guess was that he could have Myotonic Muscular Dystrophy because it is the only form of muscular dystrophy that shows up in the neonate period. Although it is at its most severe form when diagnosed this young, the definite prognosis doesn't seem to be as harsh to swallow as SMA. But Nathan only has a couple of the symptoms of this disease. The Dr. ordered the genetic test for MMD as well, but after his observation of Nate, he focused more on discussing SMA.

He never mentioned the longevity of life with SMA. And I never asked. I asked how it could be treated, and he said that we would treat the symptoms from it. I was fine with that answer. In fact, I was just so excited that he seemed to know what was wrong with Nathan. After the countless doctor appointments leading up to this, he was the first that seemed to know what our son has been suffering from. He said that Nathan does not have a severe form of this disease right now. He never mentioned that it was degenerative and progressive. I'm sure he knew I would find that out myself. He did say that SMA shows normal or slightly elevated CK levels from blood tests, while most muscular dystrophies show extremely elevated CKs...and we know that Nathan had normal CK levels at his last blood test.

Nathan stopped rolling over a little over a week ago. He was rolling from his stomach to back about 3 or 4 times a day and then he just stopped. He is also no longer able to sit in the bumbo chair...he just can't get a deep breath when he is in it. I've worried about these things over the past week, and they all kind of make sense now.

The neurologist ordered a genetic workup...10 vials of blood were taken. That was the most traumatic experience he's had since the spinal tap. It was so much blood that his veins kept collapsing and clotting. On the third and last stick, he screamed and looked at me with eyes I didn't recognize. I just wanted to yank him up and run far away. The doctor also ordered an EMG and needle nerve test that will be scheduled at the hospital soon. But we won't be completely sure of Nathan's diagnosis until we get the genetic blood work back...in 5-6 weeks. A month and a half. How do we wait that long?

I was so excited on our way home. Someone knew what was wrong with Nathan! And now I just wish that I could rewind today and never have to live through it again. My eyes are swollen. My chest hurts...I just can't breathe. My arms are tired and weary from holding Nathan all day, but I just can't seem to put him down for long before my arms ache to hold him again. And as soon as my eyes fill to the brim with tears, he always smiles at me with those big cheeks, his sweet dimple, and those eyes that pierce through my heart.
I pray that the genetic tests disprove the Neurologist's preliminary diagnosis. But if that is not the Lord's will, I pray that we will be given strength...and I still pray with everything in me that Nathan be healed.