We don’t test for these diseases because they
are so common. In fact, they are very uncom-mon. We test for them because they are
treatable. If these diseases are found early,
treatment can prevent serious consequences.
The table below gives information about these disorders and their treatments. Most of the diseases require a very specialized diet to prevent buildup of toxic substances that an affected individual cannot use properly. Some require special vitamins, and a few require medication, such as hormone replacement (for example, hypothyroidism requires thyroid hormone replacement).
One thing to remember is that these tests are screens. This means that they are very sensitive at detecting the diseases in question. It also means that they are sometimes too sensitive, and a positive test does not necessarily mean that the baby has the disease. A positive test means that further blood will need to be obtained to confirm the possible diagnosis.
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The Department of Health has a very good method for informing us if your baby’s screen is positive. Then, we arrange for further testing.
It is always wise to keep us on our toes and make sure that we have indeed received the results of your new baby’s screen. We should have the results in about two weeks and if the result is not back by then, we have staff members at each office whose job it is to track them down.
As you can imagine, this is a huge task, at the state level as well as in our offices. We always welcome a reminder at your baby’s newborn exam or the 2 month exam to make sure that the screen has indeed been received.
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