​Sofia's pediatrician noticed that she was not hitting her milestones at her 2 month check up and that her reflexes were weak if not completely absent. She diagnosed Sofia with hypotonia and highly recommended we go to Dartmouth Hitchcock for further evaluation. We went to dartmouth Hitchcock and a painful two weeks later got a positive SMA test result from them. It was tuesday July 8th 2014 when we got the news. As you can imagine the devastation we immediately felt when we heard the word "positive" and the words " the worst type, Type 1". Immediately, we contacted Sofia's pediatrician and asked that we have Sofia examined again at Boston Children's Hospital. We brought Sofia to Boston Children's Hospital for the first time on July 16th where her diagnosis was confirmed. We got to meet with an amazing team of SMA specializing doctors and got more information than we knew what to do with all at once. We were told what to look for and given lots of support. We also had the opportunity to meet with clinical research. We are hopeful in trying the phase 2 of a clinical trial this September. In this clinical trial Sofia would be getting an injection of DNA into her spinal fluid. The purpose of this DNA would be for it to attach itself to the portion that Sofia is lacking. If successful it would stabilize her, not cure, but it would give us more time for medical advancements. The bad part about a clinical trial is that someone has to get a placebo (not the real stuff) and neither doctor nor we would know until a few months later. Sofia is 1 of 5 current Type 1 SMA patients at Boston. We are hoping that someone is looking out for us and she gets the actual DNA and not the placebo. We will be going to Boston the first Thursday of every month to meet with the team. As of now the average life expectancy for Type 1 is 13.5 to 22 months. I'm hoping and praying we are the first to have a CURE! More posts will come, for now we are doing well and making sure we give Sofia and her sister happy NORMAL lives.