Never thought a diagnosis could be such a good thing..

When you hear someone talk about receiving a diagnosis, it's normally looked at as a negative topic, however for my family it is a relief and gives  hope. 

I grew up having many physical issues, as I had in common with my dad and sister as well as other extended family members. It had really become just a part of life.  It was difficult to live with especially when you had to explain to someone the pain and fatigue that you had to deal with but you couldn't even tell them what it was. It was frustrating when people did not understand. " I don't see anything wrong with you, you aren't in a wheel chair. How do you know something is wrong when you don't even know what its called? " Among other statements I dealt with. The only people who ever understood the way I felt and the difficulties I had were a few family members who had to live with the same " muscle problem ". 

I had pretty much given up hope that I would ever know what was wrong with me.  I had family get tested and never really found anything that was an official diagnosis.  I would just have to live with it and go on with life.   

In 2010 as many of you know I had my son, Maxtyn.  He was 5  weeks premature and was having respiratory issues.   While Max was in the NICU I knew I'd passed down this muscle disorder to him.  I felt the tremors in his little feet and hands. Doctors had kept telling me that he was going through withdrawal of medication he was given while on the ventilator, or that he was having seizures, there was something wrong with his brain.  After some neurological tests and a couple EEGs they finally decided that he was probably just still going through a little withdraw.  Why would they listen to me, someone who didn't even know what she had?

Lets fast forward.  It has been 3 years since I brought Max home. He has had PT for almost 3 years straight now, 3-4 times a week as well as a year of speech therapy and 2 years off and on occupational. Right now, Maxtyn receives a total of 7-9 sessions of therapy a week to assist in his physical delays and muscle weakness. He isn't fully walking but he walks about the same amount he crawls. He has come so far!

About a week ago, my sister recieved news that her biopsy had shown results (which we had been nervously anticipating for a while now). Her nuerologist has diagnosed her with Mitochondrial Myopathy.. also known as Mitochondrial disease.  I am so excited. I don't think i've ever been so excited and hopeful for a diagnosis in my life. Could it be possible that Maxtyn could live a semi normal life? Play sports? Do things with friends without having to stay behind because he was too fatigued?   Could we learn what it is like to walk around walmart without leaving in pain? To actually have an enjoyable experience shopping with friends, going for walks?  Maybe I am getting ahead of myself, but who wouldn't be excited? I read about a woman who had said " It was amazing to walk without even thinking about it". How awesome is that?? 

I'm really getting ahead of myself!  First of all, there are many types of Mito.  The next step is to try and figure out exactly which one so that they can see what treatments are available. I need to find myself a doctor and get an official diagnosis for myself and Maxtyn (and since we are moving in a month...blog to come on that too... we need to wait to find doctors up in MI).  I hope that they are able to find out the exact diagnosis so that we can start treatment and medication that may give us more energy. (And I can maybe start to lose this baby weight!!). 

I"ll update every step of the way, promise! 

-  Amy