“It’s for the kids” – a mantra that can move mountains How often do we hear a politician say, “If this plan (or this action) can save only one life, then it’s worth the effort (or expense).”
We in Pennsylvania are now faced with just such a challenge. We’re talking about a government decision that won’t save – or cost – thousands of lives each year. At most, it’s just a handful. But we’re talking about the lives of new-born infants. We’re talking about the new and developing science of neo-natal screening.
When most of the people reading this essay were born, the tests I’m talking about simply didn’t exist.
In one in every 1,000 or 5,000 or even 10,000 live births, a seemingly healthy baby inexplicably lost weight, or failed to develop motor skills at a satisfactory rate or slowly went blind or deaf before anyone realized what was happening. Such was the power of mysterious, invisible metabolic disorders. By the time they could be diagnosed by the science of 1980 or before, it was too late to prevent the damage.
Today, from a single drop of blood swabbed from a newborn infant’s heel, doctors and technicians can screen for more than 50 rare and not-so-rare metabolic disorders through recent develops in mass spectrometry. It’s not rocket science. It’s better, because it can save lives and prevent crippling and debilitation.
Most states mandate only a few basic tests on the blood of newborns – for phenylketonuria (PKU), sickle cell anemia, hypothyroidism and adrenal hyperplasia, to name four. Kids in Pennsylvania are lucky because six tests are mandated and state and federal funds are used to cover the cost so no child is left behind or left out if he or she is born in a Pennsylvania hospital or licensed birthing center.
But current neonatal practice in Pennsylvania already has moved far beyond the six mandates. For less than the cost of a typical doctor’s office visit, hospitals are able to contract for screening for over 50 metabolic disorders that affect as few as one in every 150,000 newborns but are, nonetheless a real threat to the health of that one child. And, because the damage resulting from that condition is usually preventable if the disorder is discovered early enough, it makes the effort worthwhile.
In Pennsylvania, bureaucracy is threatening the efficiency and effectiveness of this medical procedure. The Commonwealth has decided to contract for state-subsidized screening from a different laboratory than that used by all but two Pennsylvania hospitals for the full range of more than 50 screens.
Based upon a comparison of the capabilities of the two laboratories – and the experience of the Commonwealth in the past few weeks since it has switched laboratories – a good system has been weakened:
• Nurses now have to prepare two blood samples – one for the state-contracted laboratory in Massachusetts and one for the Pennsylvania lab that uses state-of-the-art tandem spectrometry to run the full range of metabolic screens.
• Early reports indicate that through human error, some paperwork and blood samples already have been confused and samples intended for the Pennsylvania lab have ended up in Massachusetts and vice versa. Because the paperwork was wrong, the Massachusetts lab sent the samples back without testing – a risk to kids that could have been avoided.
• The Pennsylvania lab, which has far more experience in neonatal testing, has a “false positive rate” substantially lower than the Massachusetts lab. In fact, the Pennsylvania lab has been praised by the national Center for Disease Control for the quality of its screening and the low level of false positives (tests that indicate the likely existence of a disease which, upon a second test, is proven to be erroneous).
• The Massachusetts tests cost more for fewer screens.
Fortunately for Pennsylvania kids and their parents, the General Assembly has amended state law to allow a hospital to contract with any qualified and licensed lab to perform the mandated tests – not just the Massachusetts lab.
It was an amazing action, when you think about it. People generally think of the legislature as slow to act, a body incapable of a swift decision except in the most extreme of circumstances.
And maybe that was the case in December when the Senate and House swiftly and by a large margin approved the amendment to state law. We’d like to think it’s because it was all about kids and about what is best for them. It certainly works out that way.
The numbers are interesting – and encouraging. The costs are extremely low to detect a genetic metabolic condition – less than $1 per screen. And the diseases are so rare that a pediatrician or neonatalogist may only see one or two cases of a specific illness in a lifetime of practice. We’re talking about one occurrence in every 10,000 or 50,000 or 100,000 live births.
So, in practice, it may be than only one child born in Pennsylvania this year who is detected with homocystinuria (one occurrence in every 150,000 births). But the poor eyesight, mental retardation and blood clots that the disease causes can be prevented with proper diet. For something called propionic academia, it may be only three cases that will be detected this year (frequency: 1 in 50,000 births). But the side effects of vomiting, seizures and coma can be prevented with a controlled diet.
What can we draw from this story? One, that legislators do listen to their constituents and to experts – physicians like Dr. Holmes Morton of Lancaster County who, almost single-handedly, led the fight for state-mandated testing for potentially-fatal “maple syrup urine disease” (MSUD) which is three or four times more prevalent in Pennsylvania’s Germanic stock than in other cultures. Dr. Morton was among the first to speak out against the contracting problems in the state Department of Health. And, two, that lawmakers and political leaders can and will put aside partisanship when the welfare of kids in involved. The legislature acted quickly and Gov. Ed Rendell signed the amendment into law within a week.
They should be saluted for their actions.
Compiled by The Susquehanna Valley Center for Public Policy
