Abby's Doctors and a few specialists all agree that Abby has what is called "Glycolic synthetase deficiency" also known as Glycolic storage disease. There is not a whole lot of information out there on this, especially in terms regular people can understand. The Doctor explained it to me like this. She is missing an enzyme in her body that should be allowing her to store carbs, energy from food, because it is missing when Abby has any period of fasting ie. sickness, picky eating etc. she deteriorates quickly with no stores of energy. It affects her liver through the processing stage and that is what makes it enlarged. When her body returns to normal eating, she regains her strength and her liver decreases to normal size.
SO...the main concerns here are slipping into a coma in her sleep from no carb storage, and when she gets ill, she gets sick quickly. Liver damage can occur overtime and that is something we need to monitor closely.
Moving forward we are to head to the ER when she has thrown up more than 3x, and we have an appt. with a genetic Doctor on May 28th at 1pm to figure out what we need to do in long term care for this disease. There is no cure, or special pill that will make it go away. It is something we will have to work with. From what I understand it can me maintained through diet. We can prolong the liver disease process through the diet also. I am hoping we can gain more information from this specialist and feel more comfortable moving forward.
1 comment:
Joani,
I pray your a lucky lady to catch this when you did. I pray you will get enough info. Im glad you feel comfortable with the Dr.'s you have. I pray for Abby as well. Just K.I.T
<3 Tara
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