My diagnosis

Looking back, knowing what we know now, you could say that symptoms first presented themselves as far back as a sports physical the summer before 9Th grade. I recall the Dr. stating very matter of fact that I had very little, if any at all, reflexes. This alone would not tip anyone off to anything so it was never considered a big deal. Come to find out, little to no reflexes is common in Pompe.
When I was 19, I donated blood to the Red Cross and was notified that I had extremely high Liver enzymes. At that time I was diagnosed with Fatty Liver since the Dr's. were unable to find anything wrong with me from a gastric view point. Come to find out, this to is common in Pompe. Apparently, liver enzymes are also found in muscle cells, and since my liver sells were diseased, my enzyme count was high.
Fast forward to February 2007. I was a happy, supposedly healthy, new mother to a beautiful, wonderful 4 month old. It was around this time that I begun to have difficulty getting up off the floor, out of a bathtub, climbing flights of steps, stuff like this. I contributed it to having recently had a baby and being overweight and out of shape. As the months went by, I became increasingly weak and it had begun to limit what I could do physically. I felt as though this is not normal. There were people out there that were larger than me that could do so much more. At a visit to the Dr. we decided to have me see a Gastroenterologist to address the elevated liver enzymes. I mentioned the weakness to the Gastro doc, and it seemed to be a big deal. Who would have thought? He was thinking along the lines of Rheumatoid Arthritis and sent me to a rheumatologist. The rheumatologist determined that it was neurological and sent me to a Neurologist thinking I had Polymyocitis. Looking back on those days and how scary the diagnosis of that was, I can now only wish it was that! The local neurologist ran some test and did not like what she saw. She sent me to the University of Va, to see the Neurologist there. At this point they were looking towards Myotonic Dystrophy or Limb Girdle Muscular Dystrophy. The Drs at UVA did their own series of test along with a muscle biopsy. The biopsy showed "promises" of Pompe, but they could not be 100% sure, so they sent me to Duke Medical Center. The Neurologist at Duke ran additional test and refereed me to DrPriya Kishnani. It was at this appointment that I learned my fate. 20 months after 1st noticing something was wrong, we got the diagnosis, I did indeed have Pompe.