Cystic Fibrosis Newborn Screening: Mission Accomplished!

Here is a real occasion for dancing in the streets! Thanks to Texas, which began on December 1, every child born in the United States -- or at least every child born to responsible parents who cooperate with reasonable public health measures -- is now screened at birth for cystic fibrosis.

Maybe you think that's an arcane development, of interest only to people who wear white coats at work. Wrong!

After sickle cell disease, CF is the most common life-shortening inherited disorder in the U.S. (It is the most common one among people not of African-American descent.) CF kills people by causing permanent damage to their lungs. But a child who begins treatment at birth can take advantage of remarkable therapies -- inhaled antibiotics, etc. -- that are likely to mean the difference between a long life and a short life.

When I was living in New Hampshire a few years ago, I made a pain in the ass out of myself at the State House in an effort to get the Granite State to become one of the early states to adopt CF newborn screening. Among others, I told my family's story to lawmakers considering the required statutory change, and then again to lawmakers who were inexplicably blocking the rules that were promulgated to implement the statute.

What's our family's story? A couple of months with a "failure to thrive" newborn, literally starving to death for no apparent reason, until some smart person at Dartmouth Hitchcock Medical Center thought to do the simple test that confirms a patient has CF. "Failure to thrive" instantly changed to "thrive" with a prescription for enzyme pills (to treat the pancreatic insufficiency that is also a common CF-triggered problem).

We of course were lucky -- a child diagnosed at four months of age has suffered no real permanent setbacks. But it is heartbreaking to meet people who are dying from CF -- almost always, when you asked when they got their diagnosis, they report a miserable childhood with undiagnosed or even misdiagnosed CF symptoms. The parents of our friend Jonathan, who died of CF not long ago, actually asked the family pediatrician about CF and he told them testing for the disease was not indicated in their circumstances.

Good grief! That kind of suffering and heartbreak will soon be history. The credit doesn't belong with me -- it goes to people like Dennis Stokes, the pediatric pulmonologist who REALLY convinced New Hampshire's officials to opt for newborn CF screening. Legislators are polite and attentive to persistent parents but they actually listen to the healthcare experts in matters like these. (Dennis has since left Dartmouth-Hitchcock for Memphis, and boy do we miss having him as our daughter's CF doc.)

It is interesting to note that the Cystic Fibrosis Foundation, which has championed CF newborn screening alongside the national Centers for Disease Control and Prevention, has not yet issued a big press release celebrating this milestone. Perhaps the Foundation doesn't want to humiliate Texas as the last state to take this important step . . .?

Here is useful information from the Cystic Fibrosis Foundation about newborn screening. I remember Dr. Stokes telling legislators in New Hampshire that newborn screening would "revolutionize" CF care. Welcome to the revolution!