In a little over 3 months (on December 4th) I will be headed to my 2nd specialist, a Neuromuscular doctor, this time I'm sure we will get an answer. After 2 EMG's, and an MRI my neurologists have figured out that I have a Myopathy (neuromuscular disease) and one of the Neurologists I saw is leaning towards a form of Muscular Dystrophy, but there are quite a few different myopathy's and my issues fit into a couple of them. Its looking like the only way to tell for sure which it is, and if there are any treatments (highly unlikely) or ways to help slow the disease down and prolong what use of my legs that I have left, is to do a muscle biopsy. I'm a little freaked out by that but its looking to be the only thing that can tell, well at least the 'cheapest' thing (genetic testing could tell but its upwards of $16,000 for a full genetic panel to be done, and with so many diseases they couldn't really narrow it down too much). So my goal is to have a definitive diagnosis by my birthday in March.
Other then that I requested a B12 and Creatinine test to be ran. Both came back lower then the low cut off, but not quite to the deficient point. The range for the B12 is 900-245, mine is a 235. The Creatinine is 1- 0.5 mine is 0.44. I did however find out that I was supposed to have fasted before those tests, which I wasn't notified of by my neuro or the lab tech so I don't know how off the levels could be. I ended up getting a B12 shot and am taking a 2500mcg supplement a day, we're just hoping that the low Creatinine level is due to the low B12 level. They also did a test for anemia and that came back just fine (there is a B12 related anemia that can cause the issues that I have so they were ruling that out because that is deadly if left untreated).
Sorry for the slow posting on my blog. Earlier this year I started having hand problems (meaning my upper limbs are starting to become affected) and there are some days it hurts to even do my homework let alone post a blog post. I try to post at least once a month!