An almost diagnosis...

I often think of sitting down and blogging or writing what is happening in our lives, what our struggles and triumphs are. I finds, however, that as frequently as it crosses my mind in the end, it does not happen. I try to blame time or even the long waits betwen tests but I find lately that I have been struggling to put words to this experience, Im not really sure what to say because in all honesty Im not even sure what I feel anymore.

Well lets just start with the facts, since the EMG which told us about the Myotonia we have done genetics testing for what is called Myotonic Dystrophy type 1. After a month long wait we found that the test was NEGATIVE! It was a great victory, but momentary as that is how they feel lately, almost fleeting. After that we were told he needed to have a muscle biopsy done. They would put him under anethesia and take some small muscle samples from his calf. This would be sent to a pathologist who would look at the muscle and hopefully give us some answers. After another month of waiting we got the surgery done and then after 2 weeks the results were posted on his chart, yes in case you were wondering I did log into my health every single day from about 3 days after the surgery. The official results read..Moderate Type 1 Fiber Predominance. With this the googling started, yes I google every test result every time for days on end so that when the doc does call I am already understanding and ready with my questions, fact is when you get these docs on the phone you had better ask everything because they are super hard to get on the phone! Basically this result mean that of the two fibers that make up muscle he has WAY to much of one type. Type 1 fibers are the slow fibers, they hold up your body and keep you steady. Type 2 fibers are the fast twitch fibers, they help you run ect... Carson has alot of the slow moving fibers. After finding the results online (and the googling) I called and left the doc a message to call us. It took another 2 weeks for her to call. These months and weeks between tests and results and more tests are EXCRUTIATING! They give you just enough information to scare the living poop out of you and then tell you to wait a month or longer for the results, it feels like being in a state of constant anxiety, constantly being on edge waiting for the call. During this last month while waiting for the results of the biopsy I have hung up on family, friends, and even work because the call on the other line came from the Dr office or Hospital. It gets to the point that you can hardly focus on life because you have this huge boulder dangling over you and at any moment it will either be pushed away or it will fall. It becomes all consuming. ANYWAY, we finally heard from the neuromuscular Dr. yesterday.

So here is basically how the conversation went. We discussed the results of the biopsy and then she went into the diagnostic meaning of this. Combine his EMG results, with his history, muscle biopsy, and you should be getting the diagnosis of Myotonic Dystrophy type 1, however, his genetics did not show this. SO we look at Myotonic Dystrophy type 2, also called proximal myotonic myopathy. However, this disease has never been documented in a child this young, ever... So we are going to give Carson a diagnosis of Myotonic Myopathy, which literally means muscle disease with myotonia.....She said she was sorry she could not give us a more difinitive diagnosis. She wants us to make an appointment with her at the neuromuscular clinic, go to the cardiologist because the heart is also a muscle, watch his weight and make sure he does not get sick, join the muscular dystrophy association, and join this study of undiagnosed muscle diseases and they map all of their genetics in a hope to find a genetic link. SO, basically she believes he has Myotonic Muscular Dystrophy type 2 but its never been seen in his age so we are taking this other diagnosis...

It is hard to explain the feeling when they say that they honestly dont know what is going on, they dont know what his future holds, will this progress, how fast, what should we watch for...we dont have a path that has been tread by those before us with this disease, we are on our own. Its a very scary and overwhelming feeling.

So lately I have had a rush of emotion and alot of confusion. I am not really sure where to go or what to do, I feel fear of the future. To the point that buying him a bike made me wonder if he will ever ride without training wheels or will we have to buy him a trike when he is older, will he always be able to walk, run, take care of himself. They want us to keep his weight very low because it gives his muscle less work to carry his body and move his body. I stres about the now and the future. What about having more children, will this affect other children. So although this is his "diagnosis" its really not given us any relief or answers. It is a watch wait and see game. And so we continue to wait.

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

Its been awhile.....

Well I am sorry, it has been awhile but a LOT has happened since my last post. We have been very busy with Carsons testing and treatment. So I will start at the beginning, first we went to see a pshychiatrist in order to decide if starting Carson on medication for his anxiety was really the best choice. We went to see a Dr at Primary Childrens Mental Health. Basically after a lot of paperwork and a 2 hour appointment she said that Carson most definitely needed to start on medication before starting counseling. She basically explained it like this. How do you teach a child who is in constant fight or flight from anxiety how to cope? We first need to bring him to normal then teach him the coping skills and then take him slowly off the medication and implement those skills. When I asked about the side effects or long term effects she said that him being in constant stress releases cortisol, this constant release of cortisol will scar the hipocampus portion of the brain (the fight or flight reponse) causing it to work innapropriately. Well I finally decided to do it, I felt as though I had no other options. We started him on Zoloft about 2 months ago now and it has been incredible. His schooling has improved a hundred fold, no more meltdowns, panic attacs, freak outs, he does not break into tears in school when he is asked to fix something or try something again. I am so happy with the decision! We also start him in counseling next week. Now that he is calm he can learn how to control the anxiety. He even tells me how much better he feels, he tells me he does not feel so upset anymore and that is WONDERFUL! The pshychiatrist also informed us that in her opinion he does NOT have Aspbergers, so I have about 5 different opinions on that subject but she said he was far to engaged in the social aspect of the visit and very appropriate with the social expectations.

After that we went to the Allergist, he has had a lot of upper respiratory tract infections in his life and proloneged coughing. He did a breathing test (which took a lot of motor skill) and we found out he has Asthma. Not really related to the SPD but part of the last couple months of medical information we have learned.

We also were assessed by a speech therapist for overstuffing his mouth. He will see them for a while to help him self regulate eating and eat appropriately. On his second apointment we also found that he does not chew with his left side and seems to have an immature eating pattern. We are now working on left side strength and just getting used to moving food to that side to chew.

Our last visit was to a Neurologist. We were sent to the Neurologist to evaluate weakness in his hands. He struggles with prolonged use of his hands while coloring or cutting, he has micrographia which means his first letters are wonderful but he longer he writes the smaller and worse the writing gets. Also when he uses his arms alot during play he will start to tremor in his hands. So we set up an appointment for the end of April but got a call on Tuesday that they had a cancellation for Thursday and we got in at the end of January!! Well I have to be honest that I half expected them to say he just had weak muscles and that we didnt need to see them anymore however, that was far from what we got. Basically, and much simpler than the report states, he has weakness in his fingers, wrists, biceps, triceps, shoulders, and deltoids. The doctor is sending him for an EMG and nerve conduct study. Basically its measuring the nerve impluses, the speed, the length and the strength. Unfortunately they have to use needles in the muscle and so he will need sedation. Due to his anxiety we have opted for the full sedation rather than partial. This will tell us if this weakness is muscular caused, nerve caused and what exactly is happening. The Neurologist said he believed he has a nerve damaged in the upper thoracic region of his spine possibly caused by a lesion however they are not ruling out genetic or inherited neuromuscular conditions. So depending on the result of the testing he will have genetic testing or an MRI. So we are now waiting for the testing to be scheduled. It is pretty scary to not know exactly what is going on or if its something that will get better or worse. We are already planning physical and occupational therapy after the testing is completed to strengthen those muscles.

So we have ben very very very busy just trying to keep up with the appointments and the testing. I hope that everything turns out fine and whatever the results are it is something we can treat! We now just wait for that testing.

There is always good news though, his parent teacher conference went very well and he is right on target intelectually. We are looking more and more at regular ed first grade! We will have to wait and see how the rest of the school year goes but the most important this is that he is improving, we are making progress, we are seeing benefits and results to all the hard work and all the effort!!!!!!