Final Q & A

It was great getting to answer some of your questions.  Now on to the final installment of our little Q & A session...

Q: What is his life expectancy?  Will he have any progress with motor skills?  Or his current condition going to be his forever condition?

A:  SMARD is considered a life-threatening disease because the first symptom to present is diaphragm failure.  Children with the disorder stop breathing due to a paralyzed diaphragm and often die in their sleep.  As a result, many children with SMARD never see their first birthdays.

Nate has obviously (and miraculously) lived through his respiratory failure and we have chosen to artificially ventilate him.  Currently there isn't any evidence to suggest that long-term trach patients will have shortened lives.  But, since SMARD is such a newly discovered disease, it's hard to say exactly what Nate's prognosis is. 

All SMARD children have a paralyzed diaphragm and significant muscle weakness, especially in the lower limbs.  Beyond that, there seems to be a lot of variation in the course of the disease.  Some children have an initial "crash" and then plateau.  Some continue to degenerate and lose muscle.  The lucky ones are able to gain some strength back.  What we have seen over the last year in Nate is a very gradual increase in strength.  He can sit unsupported for longer periods of time, he has learned to army crawl, he can reach his arms over his head again, and he has developed a lot more coordination and strength in his hands.  His therapists have been really impressed at what he's accomplished, especially in the last six months. 

I don't know how far this increase in strength will be able to go.  No SMARD child that I know of has learned to stand or walk after losing that ability (if they are ever able to do it in the first place, Nate has never stood or walked).  We will continue to push him to see what he's capable of, but we know how lucky we are that he is doing as well as he is. 

So the short answer to this question is: we don't know.  He is fragile and we know his life could be short, but we definitely plan for a future with him and don't live every day thinking it may be his last.  We are so grateful for the time we have with him and know his life will be as long as God wants it to be.