"Rare" Disorders . . . Are They Really That Rare?
Did you know that that approximately one out of every 1,500 babies will be born with one of the disorders detectable through newborn screening? It's true. And if not detected early, these disorders can cause mental retardation, physical impairment and even death. However, with early diagnosis and treatment, these complications can be prevented in most cases.

The newborn screening test (NBS) detects many disorders such as hypothyroidism which occurs in 1 of every 4,500 births, phenylketonuria (PKU) which occurs in 1 of 17,000 births, galactosemia which occurs in 1 of every 7,500 births, sickle cell disease which occurs in 1 of every 1,300 births and tyrosinemia which occurs in 1 of every 100,000 births. But altogether one of every 1,500 babies born will have a disorder that is detectable through newborn screening.

There are 4 million babies born in the United States every year and according to US News and World Report, less than 10% of these babies receive expanded newborn screening.  With these statistics and the fact that 1 in every 1,500 babies born has a disorder detectable through expanded newborn screening, 7 babies everyday are born with a disorder detectable through newborn screening.  Seven babies everyday are allowed to suffer potential brain damage, physical impairment, or even death for no reason.  These life-altering complications can be prevented with early diagnosis and treatment.  Newborn screening allows for this early diagnosis so that treatment can begin early.

"Rare" Life Analogy . . .
If the lottery said that you have a 1 in 1,500 chance of winning the jackpot, would you buy a ticket? On average, every live birth in the United States has a 1 in 1,500 chance of being diagnosed with some type of metabolic disorder, yet they are still considered "rare" disorders

"Rare" Responsibility . . .
Hospitals, doctors and nurses as well as expectant parents all have a responsibility to place stronger emphasis on awareness of symptoms of metabolic disorders. Although medical technology has become seemingly more capable of finding out what is wrong with patients, the elemental tool in diagnosing an infant with a metabolic disorder is knowledge. Emphasis must be removed from the word "rare" and placed on knowing and recognizing the signs and symptoms of a metabolic disease. Although every infant showing signs of a metabolic disorder may not have a metabolic disorder, it is imperative that the possibility that the infant could have one must be realized. Hospitals must take the time to reiterate to their nursing staff that no sign or symptom can be taken lightly, no matter how common it may seem. They must urge their nurses to notify physicians immediately when any newborn’s symptoms raise suspicion. Nurses who work in newborn nurseries are ideally positioned to identify infants who are showing signs of an underlying disease. Measures must also be taken to educate prospective parents as well, because they play an important role in diagnosis of any condition. Parents are with their children more than anyone else, enabling them to recognize changes in their child sooner than anyone. 

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