Hi! This is our son Dakin. Dakin has a rare neuromuscular disease called Spinal Muscular Atrophy with Respiratory Distress. He was born with no problems and we had no indication of his disease until he was 3 months old, when one day (literally one day) he couldn't breathe anymore. Fortunately we were at the doctor's office when it all went down. We were lifeflighted to Dallas where we spent 2.5 months in the hospital. While there, Dakin was trached (given a tracheostomy) and put on a ventilator, sent home and told that he would "grow out of it," whatever "it" was (no one out of the millions of doctors he had seen had any idea what was going on with him). Well, we had the good fortune to fall in with Dakin's neurologist, who recognized it for SMARD-1. His blood was taken and sent to England for genetic testing. Three months later we received our answer that there was in fact a mutation on one of Dakin's genes and he was officially diagnosed with SMARD at the beginning of October (six months after coming home from the hospital). SMARD is untreatable, incurable and will likely leave Dakin on a ventilator for the rest of his life, but the good news is that that will probably be a long time, unless he gets some horrid respiratory infection, and so we're very careful about germ exposure. He has some muscle weakness, cannot walk or sit unsupported, but eats and talks and plays like other children.
We try to keep our home life as normal as possible, as normal as it can be with having a child on a ventilator. We have skilled nursing at our home almost all the time, as his care is more than one person can do. We have been blessed with amazing nurses who love Dakin. Dakin has breathing treatments every six hours and needs to be suctioned through his trach whenever he can't get his lung secretions out on his own (which is most of the time). He has Speech Therapy (to help with eating) and Occupational and Physical Therapy, all twice a week. We are constantly doing some form of therapy with him in an effort to help him build strength as much as possible. All in all, he is as healthy as he can be, and so so much happier than he should be considering everything he goes through. Dakin smiles almost constantly, is cognitively normal and on track mentally in his development. He is extremely interactive and loves reading and music.
We, as we said in the header, hope that as you follow his story that you can find some joy from him. We feel that since his condition is so rare, he was meant to be the "city that is set on a hill that cannot be hid." Welcome!!!