December 2007 Well the results came in…. It was positive. She has SMA. Spinal Muscular Atrophy. (SMA) is a motor neuron disease. The motor neurons affect the voluntary muscles that are used for activities such as crawling, walking, head and neck control, and swallowing. approximately 1 in 6000 babies born are affected, and about 1 in 40 people are genetic carriers. Why us? How could this be? It is not fair! Are all things that went through our head. These are all things we may never know. What we do know is that we have been chosen, given the honor of caring and loving for this precious little angel we get to call our daughter. It is not tears and fear she needs to see each day. It is happiness, the same happiness we see in her. We had to remind ourselves that somehow this is all part of God’s Plan. We need to have faith and trust in the Lord.
Monthly Archives: March 2008
October 2007 We were waiting and praying…… In disbelief because we would spend each and every day with this beautiful happy baby. How could this be. During this time we had met with the neurologist from UNC who basically unofficially diagnosed her. The is no way to put into words the thoughts and feelings you have as a parent hearing this about you child. Still we prayed for the results to be negative and for this not to be so.
November 2007 Wow! Where do I begin???? Jocelyn still hadn’t been given any solid food because our pediatrician wanted to be sure that she could handle it so we scheduled a swallow study before we could introduce it to her. Unfortunately the swallow study results showed that Jocelyn was aspirating. This means what ever she swallows is also going into here lungs. This can cause pneumonia. They told us she shouldn’t have anything by mouth and to contact the pediatrician immediately. They admitted us to the hospital to have a temporary feeding tube placed as she was evaluated and they could discuss with us what to do. The doctors wanted to do surgery to insert a feeding tube through her stomach. This was the weekend before Thanksgiving. They taught me how to feed her and let us go home for the holiday. The surgery was scheduled for the 27th. As much as we didn’t want to have to do this we knew it would be best for her. …… We were still waiting for the test results for the genetics lab. Apparently someone messed up the test and we had to have it redone. ….
September 2007 This was a very busy month for our little angel. She was tested for what seemed to be everything under the sun. At this time each test seemed to come back normal and we would feel relieved and prayed that it was just a form of hypotonia that she may out grow. At one of her appointments the neurologist noticed that Jocelyn had tongue fasiculations. She was pretty sure this meant she had SMA but wanted to be sure. This is when we were referred to the neurologist at UNC and also to have a genetic test done.
August 2007 We had brought our concern to the attention of the doctor. She used the word hypotonia and referred us to a neurologist. We were very worried and began looking up things on the internet(Scary…. unless you know exactly what your looking for)