Looking for help
 

Hello Everyone,
I'm here looking for direction in my search for answers for me son. It seems we have gone from one doctor to another over the last 2 years, without ever progressing, and late nights of self research have led me here. :)
My son is 6, and presents as a "typical" anemic. E_treme (forgive my broken w_yz key) pallor, irritability, fatigue, loss of appetite, slow growth/weight gain and pica (of hair, which he pulls from his head and eats). However, his blood work doesn't reflect anything typical.
I should mention that he flu_uates given his current iron dosage, but that the e_amples I give for lab values are normal for a bad period.
Reticulocyte Count/Absolutes 16440 (23000-92000) cells/uL
WBC 4.5 (5-16) Thousand/uL
MCV 89.0 (73-87) fL
Total Iron 24 (27-164) mcg/dL
% saturation 8 (8-48) %
Everything else RBC, Hg, Ht, TIBC is (and always has been) well within the normal range. He isn't considered to have anemais because of the fact all those levels are fine. But his symptoms are relieved when total iron/% sat are brought up into normal range. (However his retic count never gets higher than low end of normal, and the MCV is out of range no matter what).
I have asked for B12 and folate checks (low values seem in macrocytic anemias(high MCV))) - also well within normal range.
SO . . . . I can't wrap my head around low retic count (sometimes e_tremely) and healthy RBC levels. Any e_planation there would be greatly appreciated. And while everyone seems concerned about his WBC levels, and consistently low retic and consistenly high MCV, not a single doctor to date has given me even a possible answer. Suggestions for e_ploration?

I know this seems trivial in light of many of the issues faced by forum members, but as his Mom, seeing his tired, ravaged body with a balding head not gaining weight, and crying from e_haustion, it doesn't seem trivial at all. Any help would be greatly appreciated.

Has he been tested for Celiac Disease? It also wouldn't hurt to ask for copper and zinc levels. How are his biochemistry results? Glucose, protein, liver, kidney function?

Sorry, I don't have a lot of medical knowledge and I've never had a child but what you are describing for your son is how I used to be as a child and now at 55 they have finally figured out that I have a genetic defect of copper metabolism. I'm supposed to be the only person in Australia with this condition but I'm wondering if maybe it's just been under diagnosed.

Best of luck in your search.

Regards

No to celiacs - though its on my list of tests to demand. Liver and kidney tests all came back normal. Glucose levels are fine, he is currently being treated with copper ointment, and has been for about a year. (due to heavy metal e_posure - which i probably should have mentioned, but its very late here and i'm tired :) ) Zinc levels unknown, but recieving that in a trace mineral suppplement as well.

Thanks for the suggestions.

Do get the B12 checked. It needs to be at least at 500. Is there a reason for his iron to keep on dropping? Copper, zinc and iron are very closely tied and an excess/deficiency in one can cause an imbalance the others. So you need to correct the deficiency.

I second the check for celiacs. I would check on his thyroid, too, and even lupus. Maybe your next dr. visit should be a rheumatologist. They deal with autoimmune diseases. His being incredibly fatigued, but no explanation from his bloodwork is what leads me to this thought. There are many autoimmune diseases out there that will cause extreme fatigue. Unusual hair loss can also be a thyroid issue many times. All of these things a rheumatologist can help discover. I wish you the best. It's so hard to be a parent and feel helpless when it comes to making our babies feel better. :(

His B12 has been checked, last time it was in the 700's. We have no reason for his dropping iron. This last time, he had actually never come off of it, and was taking 325 mg of ferrous sulfate every 3 days. His numbers still crashed. I will asked about copper and zinc tests. Thanks.

Like the others have said, Celiacs should be looked into as a possible reason for malabsorption. Unfortunately, the tests for this are not very accurate...false negatives occur quite frequently. The best thing to try is to go gluten free for a month and see how he does.

Also, if you are taking a B12 supplement, your serum levels will look better than they probably are. It's a good idea to stopped B12 about a week before testing.

Vitamin C increases the uptake of iron in the gut. While tea, coffee, wine and milk can interfere with it.

I hope you get some answer soon.