One of those nights

It is the end of the day and I am exhausted. The simple day to day activites tire me out. I am sitting down trying to recoup some strenght while dinner cooks. Some nights I get really down in the dumps. It is so nice outside and I would love to be outside playing with my daughter or taking her for a walk, but I cant. My mom is tajing her walking instead. It sucks. Im Courtneys Mommy, I should be doing those things. Its just gonna be one of those evenings it seems.

A Movie about Pompe

I remeber seeing somthing about this a while back but I just came across this tonight! How cool!



Watch CBS Videos Online

So it begins.

Today I went and got a cane. You do not know how hard it has been for me to face the reality that I need it. When I was at Duke yesterday I tried one out with the physical therapist. It made a big difference. When I use the cane, I don't waddle nearly as much and I think I may walk a bit straighter too. I also feel more secure and dont feel as off balance. Now I just need to get over the fear of public reaction and actually use it. I know that it has come to the point where I need to use it, but my pride is keeping me from just doing it. It is tough. I am 29 yrs old, I shouldn't need a cane.

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.

What is Pompe?

Pompee is also know as acid maltase deficiency or glycogen storage disease type II (GSD-II). In laymans terms, it is a nuromuscular disease in which the muscles are lacking a certian ensyme in order to function properly.

Pompe disease has been categorized several different ways in the literature. A neuromuscular disorder—and within that umbrella, a metabolic disease of the muscle—it is one of more than 40 diseases which share a common element of muscle wasting. It was also the first disease to be classified as a lysosomal storage disease (LSD), a family of more than 40 diseases that interfere with the body's ability to degrade complex molecules within the lysosome. Thirdly, Pompe disease is the most severe form of the 12 glycogen storage diseases (GSD), in which an enzymatic deficiency disrupts the normal conversion of glycogen.

You can get more detailed scientific details by visiting the websites I have linked to the right.

Introduction

Hi everyone. I have been toying around with he idea of starting this blog for some time now. I am new to the blogging world, but I think with some time Ill have it down. My purpose and want for this blog is to keep family and friends in the loop about my nuromuscular disease called Pompe. I will go into more detail at the next entry. I also hope that I can be of help to others out there who have this disease and are looking for so info about someone like them who is familiar with what they are going through. Lastly, I hope this will become an outlet for me. Obviously, having a physically dibilitating disease plays a huge toll on your emotions. I hope you will follow me through this journey of my life.