Nate's Story

Nate was born on April Fools Day, fooling us all into thinking he was perfectly healthy!  He was born full-term but was a little small, 5lb 14oz.  He was discharged the next day and everything seemed great.  He was strong, eating great, gaining weight, no reason for us to worry.  We were living the dream.

When he was 3-4 months he stopped wanting to nurse as much.  Then all of a sudden it seemed like he didn't want to nurse at all.  He dropped from the 25th percentile to the 5th percentile in just a couple of months.  Around the same time it seemed like his breathing was getting a bit labored.  We saw pulmonary specialist who took one look at the way he was heaving and told us his diaphragm was very weak.  In fact, it was moving in reverse, pushing up into his lungs every time he inhaled.  We spent a week in the hospital doing every test the doctors could think of to figure out why his diaphragm had essentially stopped working.  We got no answers except that his diaphragm needed surgery to be pinned down. 
After the surgery, things seemed better.  He had only his accessory muscles to breathe with, but his work of breathing was less, he was gaining some weight (though not nearly enough, and eventually he stopped wanting to eat almost entirely), and he was hitting his milestones on time.  He definitely seemed a bit weak and had loose joints but since he was still crawling, standing, etc, no one was too worried about his development.  Our main concern at that point was his low weight and total lack of interest in eating. 

Shortly after his first birthday, Nate got pneumonia.  Because his respiratory system was already compromised, it hit him really hard.  He ended up being intubated for over two weeks.  He got a feeding tube placed in his stomach (g-tube) and had surgery on his diaphragm again during that intubation.  When he was finally extubated, they ended up having to reintubate the next day.  I think it was over a month before he was finally extubated and put on oxygen during the day and Bi-PAP (a breathing mask that pushes air into your lungs) at night.  We were discharged after two horrible months in the PICU.  He had lost a lot of his motor skills during that time, but everyone thought that seemed normal after what he'd been through.  After just two weeks at home, he had an episode of severe CO2 poisoning from breathing so weakly.  He was reintubated and got his tracheostomy and ventilator the next day.  We spent another two months in the hospital, finally got discharged, then ended up back in the hospital two more times over the next week before he finally, finally got to come and stay home.  There were a number of serious emergencies during this period and we're so lucky he's still with us.

After discharge, he was even weaker than before.  He had to learn to hold his head up and sit all over again.  He started physical and occupational therapy and everyone thought he would gain back the strength he had lost from spending nearly four months in the hospital.  After several months of very slow progress we began to think there had to be more to the story than an isolated weak diaphragm and muscle atrophy from a hospital stay like his doctors had been telling us.  I turned to the trusty World Wide Web and found out about SMARD from another special needs mom.  When I asked to get the bloodwork done the doctors told me it couldn't be SMARD because his muscle biopsy had been normal.  I insisted of course and my mother's instinct proved me right. 

Living with SMARD has become our version of normal now and we feel grateful everyday that Nate is part of our family.