2 – 4 Weeks

24 Oct

I heard back about the results from the study. The initial test did show that I appear to have been misdiagnosed–that I may indeed have adult onset¬†Pompe disease and not Limb Girdle Muscular Dystrophy. The remainder of the tube of blood I gave has been sent off for gene sequencing to confirm the initial blood […]

7-10 Days

24 Sep

7-10 days to hear back about the blood test. I asked her why this test is not part of a routine screening when people are seen for muscle weakness, especially if this disease is so easily diagnosed through a simple blood test. She said they are hoping to prove with this study that the test […]

A New Round of Testing

23 Sep

I go in for an¬†unexpected round of testing tomorrow.               About a month ago I received a call from a graduate student from the department of genetics at the university hospital I go to for my muscular dystrophy. As part of her studies in genetics, she is testing a […]