Kerry/Dawn - secondary FOD

[Guest guest]

Kerry and Dawn: The boys have developed secondary FOD too and like Kerry's girls - they look to have a mix of things depending on the day. SCAD and MADD as well as MMA are the ones that seem to be consistent. Their sum of acylcarnitines keeps getting higher and then individual ones are progressively getting worse. Our metabolic doc at the Waisman Ctr in Madison said that since they have a confirmed dx of complex 1 and 4 and because for years they did not show any sign whatsoever of FOD, that he can only conclude it is secondary. Zach, who is 12, had fibroblast studies twice (2 different samples even) and these were normal at age 2 and 6 respectively. When they got their diagnosis of complex 1 and 4, Shoffner told us to do semi annual urine organic acids and acylcarnitine profiles to watch for progression. We did that for a few years and all was fine. The about 2 yrs ago for zach and 1 for Sam these tests began to get progressively abnormal. Shoffner also has weighed in on this and feels it is secondary to the mito and unfortunately all feel it means that they are less able to use alternate pathways to make energy. The metabolic docs say they are seeing cases of this more and more where the FOD is not inherited or primary but occurs as the disease progresses. It sounds like your kids are doing the same Kerry. Dawn - is this also happening with your 3? They also look like they have glutaric aciduria II now - is that also an FOD. Was told yesterday this this too is secondary. The other odd finding is that Sam is showing a high level of carbohydrate transferin which is part of a whole other very very rare metabolic problem that is linked to bleeding and anemia. Of course no one things he has this as a primary issue but some how, some way it must be another consequence of the worsening disease. They are going to repeat it to make sure in a few weeks. They also have an essential fatty acid deficiency but even though they are getting enough essential fatty acids in their diet. We need to start them on DHA. Also they've developed a deficiency in B-12 although their blood B-12 levels are fine. However, the MMA is high and I guess this means that intracellularly the B-12 is depleted. Also secondary to the mito. its amazing to me how much can still go wrong. As for diet I am so unsure and they have not wanted us to change anything. They are both on TPN and neither get huge slugs of fat. We've tried to increase their dextrose but they get lactic acidosis. They'd like to see less protein in their diets but that too has caused their pre albumin levels to plummet. So now they just said to keep it all the same and we're trying things like high B-12, folic acid, the DHA , biotin and still fairly high carnitine doses. Anne