Little's Life

Little's Life

Saturday, June 11, 2011

Anyone need some CPK bc Tot's got about 9,700 extra

CPK: Creatine phosphokinase (CPK) is an enzyme found mainly in the heart, brain, and skeletal muscle. Your body produces it when the muscles have been injured or diseased.

On Wednesday, Little had his consult with the Neurologist at Vanderbilt Pediatric. Doc Neuro listened to all of our concerns, examined Little, then sent us for bloodwork. Doc Neuro told us that since nothing is jumping out at him as a definitive indication of any certain syndromes, that it could be a long road to figure out why Little is weak and delayed. We already knew that, so that wasn't hard to hear.

On Friday, Doc Neuro called me with the results of the bloodwork. Here's what he had to say:
In a normal 17 month old, the body's levels shouldn't be above 300. Little's are over 10,000. What this means is that he has some form of muscle disorder or disease. There are literally HUNDREDS of conditions that can cause high levels of cpk, so now we must begin the process of ruling them out/narrowing them down. The 1st of these tests is called an Electromyogram (EMG). Basically what will happen is DOc Neuro will insert needles into Little's muscles and send currents through his body to contract his muscles. As this happens the flow of proteins and other impulses will be recorded to see which muscles are damaged the most and what proteins seem to be defficient. It will be painful and it will be scary. He told me to bring anything I can think of to distract Little with. Fantastic.

After the EMG comes the EKG to see if his heart is the damaged muscle. It's basically just an ultrasound, so that's a relief.

After the EKG comes a muscle biopsy from an area that the EMG pointed to as most affected.

After that (or before since we're already scheduled for our consult at the end of the month) comes genetic testing.

If we are lucky, we will get a diagnosis that tells us how best to help our baby boy. Some of the possible diagnosies are mild, treatable and some are downright terrifying. We are trying not to dwell on the wors tof them, but it is impossible to fully clear them from our minds.

It's going to be a long few months...


  1. Hi..

    found you over at Kelly's Korner

    We also battle severe hypotonia and our son just learned how to crawl as well! I can't wait to read all your stories!

  2. Hi Katherine!

    Just wanted you to know you and your family were in my thoughts and prayers. As a PICU RN, I know that VCH is one of the best. I pray for strength, encouragement, and helpful resources.