There's a question that is commonly asked in regards to what blood tests should be done for people with Down syndrome, both on DS forums & listservs and in emails I get. I thought I would put a post up with an explanation of each test here for easy reference whenever the question arises! And also, for those who haven't heard of or thought of what the recommended blood tests are.
The list, taken from Dr. Leichtman's website:
"-CBC every 6 months until 6 years of age.
-T3, T4 and TSH every year for life.
-Metabolic Testing:Now, to explain the testing.
If working through a local lab only: Obtain serum levels of Vitamin A, iron, ferritin, zinc, selenium, and homocysteine, IgA tissue transglutaminase anitbody, endomyseal antibody."
1) CBC or Complete Blood Count. This tests all the levels of white blood cells, red blood cells, and everything that has to do with blood. This test is mainly to look for leukemia, because it can be more common in kids with Down syndrome.
2) T3, T4 & TSH (Thyroid Stimulating Hormone). Ideally, you should have the Free T3 & Free T4 tested. If there are concerns that the thyroid may not be functioning well, you can also get a test for T3 Uptake. These tests are all to keep an eye on thyroid problems - hypothyroidism, hyperthyroidism, etc. Thyroid problems, particularly hypothyroidism is at an increased risk for people with Down syndrome.
3) Vitamin A. This is to keep a level on a fat-soluble-vitamin which is given kids with DS to ensure that the level does not get too high.
4) Iron & Ferritin. These tests are to keep an eye on, well, iron levels ;). Ferritin is a very important test in addition to the Iron test, because it is the actual stores of Iron in the body. If ferritin (the storage of iron) is low, then you have a problem.
5) Zinc. This test is watch for deficiency in zinc. Zinc is commonly deficient in people with Down syndrome. O was deficient in zinc from the first time we tested him, which is why he takes 25-30mg/day of extra zinc. But, we still routinely test him to make sure that his levels stay good.
6) Selenium. Selenium is another thing which is commonly deficient in people with DS, which is why it is recommended that it is tested. O was also initially deficient in selenium, but since taking Nutrivene-D, his levels have normalized.
7) Homocysteine. The messed up SAM cycle (because of the overexpressed CBS gene), causes a folate trap, where the body is not able to adequately use folate. Therefore one of the problems it creates, is low homocysteine levels. Homocysteine is very important for proper mental function and if it's too low or too high, it causes problems. It can be hard to correct this low level of Homocysteine, but there is supplementation that can be done to help.
8) IgA tissue transglutaminase anitbody, endomyseal antibody. These tests are looking for Celiac Disease, which is another thing commonly seen in the DS population. This routine testing may be able to identify Celiac before it becomes a severe problem.
One thing I stress all.the.time, is to get a copy of your child's lab results. It happens all too often where the doctors do not truly tell the parents the complete results. It's happened to us, even though we request copies of the results!
Even though the lab results may be within "recommended range", it doesn't mean everything is okay. Is it on the low end of the range (deficient)? The high end of the range (too much of something)? Is something just not right (like a slightly high MCV, most people will not catch it)?
Ask questions. Request copies. Research. You'll be able to help your child's health a lot better. And potentially save yourself a lot of trouble.
Plus, make sure you get someone who knows how to do hard draws, if your kid is a hard stick. We don't put up with anything and always ensure that the person who draws O's blood knows how to get it the first try.