Saturday, September 22, 2012

Living with SMA

Our precious beautiful boy has been diagnosed with a rare genetic disorder called spinal muscular atrophy. Who has ever heard of SMA? and what is type 1? It is probably the worst news a parent can get.

For months I have been asking my pediatrician, why does he breath like this? Why is he coughing like this? You keep saying its acid reflux but I don't think so? Why is he waking up so much at night? Why is my baby not eating well?  Pediatricians, dietitians, and specialist thought, oh, classic reflux baby... I was told over and over again, its ok, you are a new mama, he's going to be fine.  My little baby is not fine, but we are going to be with him every little step of the way.

Now I know why when he has a cold, the fluid in his nose is sometimes too much for him. His little coughs are so weak because he doesn't have the muscle ability to cough hard like other kids. A cold for us had been weeks and weeks of little noses, pats on the back and saying its ok.  This time, its not as easy to say, its ok, but with confidence and love, I  hold him up and pat his back and try to help his little muscles cough out what he can. 

Everyday with Bryce is a gift. His smile, coos, his hand reaching out into mine, his hands touching my face, or my nose. He loves to play with my hair. Though I struggle with feeding him at times I have to take a deep breath and  say, is he gaining just a bit more overall  and then thank him for being a great little angel and being so perfect in every way. 

I am struggling to not be angry at our first pediatrician. At 2, 3, and 4 months old, she would say, all babies develop differently. Really? He can't lift his little head and my feeling is that this is not right. Finally, one doctor, Dr. Quiles, listened to me and started sending us to specialists. I counted down the days and weeks to get in. At our first office visit, we were rushed to Randal's Children's Hospital. It was here where we met the neurologist and others. A very emotional, shocking, unbelievably difficult experience at the hospital with often harsh questions and little explanation. Even with 12 doctors pocking and prodding, my little one still hung in there like a trooper, his big brown eyes looking at me, why are we here mamma, papa? What's going on? The day to day life had not changed for any of us, these physical things have been part of our life for months and we were never rushed to the hospital before. Why is my mama crying?

Again, we left with no answers. Only more questions and concerns about our traumatic days at the hospital. We went home and said, there is no way this prognosis could be true. There must be another reason. We continued to go in and out of doctors offices for another week. On Thursday, September 20th, we met with the specialist and were told that children, our son, with SMA 1 don't live past their 2nd birthday and that is with the help of respirators and feeding tubes.  His muscles at some point will no longer progress  and they will degenerate. There is evidence that his lungs and all the other little muscles required for eating are already starting to weaken.

There is no way to explain how heartbroken we are and the tears just can't be stopped.  We never stopped looking at the world differently when Bryce was born, we are now just looking at the little things each day and  honoring and cherishing this little man for who he is and what he can do. I try stay strong and keep him laughing. I cry at night and hopefully at times when he can't see me. He doesn't know quite yet what is going on, so for him each day is a new day with curiosity, adventure, and laughter. I am grateful for the time we have now. "Live each day to the fullest," I believe someone said. "Never have regrets," "There is no time like the present."

We still play so many games and sing lots of songs. He still falls asleep to what my daddy sung to me when I was little, John Denver's classic, "Country Roads." Of course other songs like "Its a Wonderful World," and "Stand By Me" help soothe all of us to sleep.

1 comment:

  1. Thanks for taking time to write about your experiences and your feelings with learning about Bryce's SMA. We will continue to think about you guys and pray for you.