Glycogen Storage Disease – StarchWars

Quality of Life with GSD 1A

Posted on 30. Dec, 2007 by BMW in Glycogen Storage Disease

My last post was a little dismal with the idea of dealing with sickness during the season on top of GSD, and though it’s no picnic, this year has been a pleasant one(especially when we’ve been able to compare it with the whoppers we’ve had over the past few years).

It came to my wife’s and my attention that despite the non-stop grind of keeping our children going four hours at a time they are able to enjoy life. They run, play, learn, jump, swim, wrestle, stunt double for one another and even find time for a brotherly quarrel here and there. For the most part they are acting and feeling like “normal” kids, and most importantly they are happy.

As parents dealing with the symptoms and effects of an unchecked and misunderstood child with Glycogen Storage Disease our fears were innumerable about what was coming next and what our children were missing out on. It broke our hearts to see our oldest son struggling to learn how to walk and forgetting things that he had learned. He broke his leg twice and was very lethargic. As he grew older and only his liver seemed to be the only part of his body that was getting better we often wondered about the quality of life that he was going to have or that we could help him have.

I’ve just mentioned a few of the negatives of what can happen and what did happen. I remember various breaking points that my wife and I had to muscle through with little answers and many of them incorrect in how we should proceed in helping our kids. I sympathize with any parent that is in a similar situation and do not envy the grief and hopelessness that comes along with it.

Fortunately, for us the right answers did come and we were blessed and relieved to finally have a correct diagnosis for our two oldest sons at Primary Children’s Hospital in Salt Lake City. Mark being 3 and Ethan almost 2 at the time. This gave my wife and I a new start and hope that we could help Mark reverse the physical and mental deterioration that resulted from the disease.

Though, we had a diagnosis and the kids were doing better, it wasn’t until we visited Dr. Weinstein in Florida that the children really started to progress. In less then one month’s time both boys we were seeing a night and day difference. They started to run and play and we could tell that they were feeling good. I’m not sure how else to better describe it other than they were sickly and now, though they still have Glycogen Storage Disease Type 1A, they are not sickly.

I hope this helps others realize that GSD is something that can be managed and that can allow the individual to do “normal” things. Our children are prime examples, and we’ve seen them on both ends of the spectrum. Yes, it is hard work, but to have a happy child that isn’t dieing on you is worth it. With the way that all four of our children with GSD are progressing we anticipate that they will all have fulfilling lives (minus the sugar addictions).