My almost 18 month old son has been dealing with numerous health issues since he was born. He often has mucousy, malabsorbed stools and has had them since he started eating food. He had RSV, that took forever to get rid of. He has also had pneumonia. His nose mucous is very, very thick and he often has a yucky nose. His weight is okay, but he gains and loses weight rather than that nice curve they like to see. He is currently drinking three cans of pediasure a day to keep him gaining weight.
He has been diagnosised with von Willebrand's disease - type 2A (a bleeding disorder similar to hemophilia), IgA deficiancy, and possibly celiac's disease. The issue with the celiac's is that the biopsy came back with normal villi but chronic inflamation of the small intestines and elevated T cells (I think that is what they are called). So the pedi GI wanted to try the gluten free diet for six months and then reassess. It barely helped, in fact he lost nearly 3 pounds 6 weeks into it. Then we started pediasure and he has recovered that weight. We are schedualed for a follow up biopsy in September to see if there is improvement. He is still malabsorbing on and off and has barely grown since his nine month check up height wise (1 1/4 inches). With the gluten free diet most ppl have results within a DAY.
The nutrionist that is seeing him recomneded a fecal fat assay (72*) and we are currently in the middle of that. It is pretty disgusting, but we have done all sorts of fecal type stuff so this is just an extended version. The nutritionist was also quick to point out that he could have both CF and celiac's.
He did have two sweat tests done - one in december and one in January. The first one was a 37 (boderline). He had a lot of sweat in the bag and the nurse even commented that she had never seen so much sweat before. The second was a 23. I think I over hydrated him though. The first one he was perfectly hydrated, but I was so scared for the second that I just wanted to make doubly sure he wasn't and he had two bottles the night before and two that morning - double his usual routine.
We have an appt with the genetic doctor in mid sept as well. The CF center we used wouldn't run the ambry b/c my insurance at the time would not pay b/c of the negative sweat. We now have different insurance and our case manager is looking into if we can run the ambry without another sweat.
Anyhow, I am just looking for some support through the process of diagnosis from people that have lived it. I am scared, but ready to really know what is going on with him medically. Thank you!
He has been diagnosised with von Willebrand's disease - type 2A (a bleeding disorder similar to hemophilia), IgA deficiancy, and possibly celiac's disease. The issue with the celiac's is that the biopsy came back with normal villi but chronic inflamation of the small intestines and elevated T cells (I think that is what they are called). So the pedi GI wanted to try the gluten free diet for six months and then reassess. It barely helped, in fact he lost nearly 3 pounds 6 weeks into it. Then we started pediasure and he has recovered that weight. We are schedualed for a follow up biopsy in September to see if there is improvement. He is still malabsorbing on and off and has barely grown since his nine month check up height wise (1 1/4 inches). With the gluten free diet most ppl have results within a DAY.
The nutrionist that is seeing him recomneded a fecal fat assay (72*) and we are currently in the middle of that. It is pretty disgusting, but we have done all sorts of fecal type stuff so this is just an extended version. The nutritionist was also quick to point out that he could have both CF and celiac's.
He did have two sweat tests done - one in december and one in January. The first one was a 37 (boderline). He had a lot of sweat in the bag and the nurse even commented that she had never seen so much sweat before. The second was a 23. I think I over hydrated him though. The first one he was perfectly hydrated, but I was so scared for the second that I just wanted to make doubly sure he wasn't and he had two bottles the night before and two that morning - double his usual routine.
We have an appt with the genetic doctor in mid sept as well. The CF center we used wouldn't run the ambry b/c my insurance at the time would not pay b/c of the negative sweat. We now have different insurance and our case manager is looking into if we can run the ambry without another sweat.
Anyhow, I am just looking for some support through the process of diagnosis from people that have lived it. I am scared, but ready to really know what is going on with him medically. Thank you!