What we have been up to.

I realize it has been awhile since I have posted anything, there have been alot of things that have been going on and Im not really sure what to say about most of it. The Neurologist we saw in January sent us for an EMG of Carsons nerves and muscles, because he needed sedation it took until April 8th to get him in. That morning we went to the EMG and they were prepared with child life to help him deal with the anxiety, they did such a wonderful job preparing him, they showed him pictures of every step of the process, let him look at the tools, and ask questions. He did a really amazing job! I was so proud that he was able to stay calm. The Neuromuscular specialist came in and did some tests on him and said she thought me may have SMA type 111, this is a bad progessive neurological  condition so I was very nervous. I also stayed pretty calm, I was fully prepared for most of what happened, however, after I walked him to the procdure room and they put the mask on him and he went to sleep I walked out and just the feeling of not knowing what the diagnosis would be over took me and I lost it, it was pretty embarrasing! Well I got myself a Dr. Pepper (my heavenly drink) and was able to calm down. The procedure took an hour and when the specialist  came out she asked me if I was CERTAIN I had never had any neuromuscular problems, I said I had pain and stiffness in my hands and feet especially when I use them alot or they are in one position for a long time. She asked if she could test my hand and I allowed her to do some testing. On one test my thumb stood straight up and just spasmed in the air. It was pretty sad to see how excited the medical student with her got actually but as a RT student I remember seeing something I recognized and feeling that way. It stayed in a spasm for what felt like a long time and then the DR said she believes Carson has Juvenile Onset Myotonic Muscular Dystrophy also known as MD1, and that I have an adult onset form of the disease myself but my symptoms are very mild at this time. We talked about our next set of testing which is genetic blood testing (usually a muscle biopsy would follow the EMG but the myotonia of the muscle is aparently very telling and they are skipping this part). I asked about his life, prognosis and many other questions and all she said was we had to wait for the genetic testing to know how severe it is and that she would call us with further instructions the next week. I went into PACU or recovery and Carson was so upset, his caregiver was actually a friend that I used to work with at Primary Childrens and she asked how I was, honestly, in shock, (I actually didnt even register that I knew her for a few minutes). I remember saying "I worked here, I worked with these types of kids, I remember thinking that it would never be my child and now it is, all those kids we took care of and now its mine". It was kind of surreal though because I didnt really process the long term of the disease. She was wonderful to get him out of there quickly though and even though they said he would be tired and need rest the rest of the day he was bopping all over the house as usual within minutes of getting home, we went to the store and got him a movie, oreos, and treats!
It took over a month to hear back from the DR, however his genetic testing has been approved and we are going tonight to have it drawn and that will take another 4 weeks, so some more waiting, but we are getting good at that :).
Through our research we have learned alot about the disease however without knowing how severe the disease is we will not really know a prognosis, they will count the number of repeats on the gene that carries the disease and that will give us the severity.
The disease is transmitted genetically Dominant meaning that it is passed by one parent (me) and that each child will have a 50% chance of having it in any form (congenital, juvenile or adult).
The Muscular involvment includes hands, feet, face, neck, digestion, eyes, diaphram, and most severely heart problems including sudden death. However the juvenile for often onsets with cognitive and behavioral symptoms, which we have been dealing with in regards to Carson for a while now.
It has been an extremely long couple of months since the EMG, I have had many ups and downs. The first two days were extremely difficult. Now there are good moments and bad moments. There are moments of anger and fear and times when I feel we will be ok. It is so hard to be told this but to have to wait so long for the blood work. I provided some links to information about this muscular dystrophy.

http://en.wikipedia.org/wiki/Myotonic_dystrophy
http://mda.org/disease/myotonic-muscular-dystrophy/signs-and-symptoms/juvenile-onset-mmd1