Shortly after Jill Twardosky gave birth to her son Derek in 2004, she started seeing signs something wasn’t right.

The Hamilton woman watched as her son developed chronic lung infections. He was so small, he was off the growth charts, even though he ate normally. Doctor after doctor couldn’t explain Derek’s frequent illnesses and inability to grow.

After eight months of lung problems and growth issues, Twardosky finally discovered Derek had cystic fibrosis, a hereditary disease of the lungs’ mucus glands, liver, pancreas and intestines. It’s a disease that causes progressive failure of bodily systems — but one that with a specially tailored diet can be controlled to allow a normal life and dramatically improve life expectancy.

Until this year,Montana did not routinely screen for cystic fibrosis in newborns. In fact, the state performed newborn screening for only six conditions, the lowest number of screenings of any state at the time.

But in the 2007 session, the Montana Legislature changed that, passing a measure that requires screening for 29 conditions, including hearing — bringing the state up to the standards recommended by the March of Dimes and the American Association of Pediatrics.

Twardosky was among those who testified before the Legislature on behalf of the bill.

Most of the other 27 genetic conditions Montana screens for can cause brain damage severe mental retardation or death. If caught in time, all can be controlled and consequences prevented or lessened by means of specialized diets and other treatments.

The screening, overseen by the Department of Public Health and Human Services, also includes a long-term followup program administered by Helena’s Shodair Children Hospital.

According to Jo Anne Walsh Dotson, family and community health bureau chief for DPHHS, that followup — which makes sure children diagnosed with a genetic condition get the specialized care they need — helped bring the state from being one of the nation’s worst to one of its best in terms of newborn screening.

“They thought things through pretty well,” Dotson said.

Individually, each condition is rare — occurring in frequencies ranging from one in 3,000 babies to fewer than one in 100,000.

Through August, dozens of cases had already been detected, including three cystic fibrosis cases, two of which probably wouldn’t have been caught under the previous screening system, Dotson said.

Out of 8,000 babies screened, there were 156 initial positive testings. Of those, about two-thirds were found to be false positives.

One of the positive readings found was an exceptionally rare condition resulting from an inability to metabolize fatty acids. Dotson referred to it as a “one-in-a-million” case.

Linda Beischel, newborn screening coordinator at DPHHS, said

“For many of these conditions, the first symptom can be death. Irreversible brain damage or death,” she said. “These folks (with proper treatment) can have absolutely normal intelligence.”

The surge in recent years in increased routine screening is due to a relatively new technology called tandem mass spectronomy. Montana performs many of the the screenings at the DPHHS laboratory in Helena. The state contracts with the Wisconsin state laboratory for the tandem mass spectrometry tests.

Beischel said there is now a big push to screen for more conditions, and some states screen for more than the 29 recommended by the American Academy of Pediatricians and the American College of Medical Genetics. Mississippi, for instance, has 40 conditions it routinely screens for.

Beischel said a number of crtieria are used to determine what new screenings become standard. They must have a good test that doesn’t result in a lot of false positives, be able to be treated in some way, and be screened for in a cost-effective way.

The model is based on the first routine genetic test, for phenylketonuria, or PKU, which causes severe mental retardation unless a strict diet is followed.

Montana first began screening for PKU in 1973, at which time it also began treating for hypothyroidism, which causes a severe form of retardation called cretinism.

According to Dr. John Johnson, director of medical genetics at Shodair, those conditions have been all but eliminated in the United States, thanks to treatment. He said that the same will be probably be true for many of the new conditions being screened for.

Families were able to screen their children for the additional conditions in the past, according to Dotson. About 40 percent to 60 percent of families were getting the screening, she said.

But many families were unaware they had the option. And for those who did get screened, it was left up to individual families and doctors to make sure the proper care was given.

“We didn’t know about them,” Dotson said.

That was troubling, she said, because some of the conditions are so rare, most physicians have never even heard of them let alone know how to treat of them.

State Sen. Mike Cooney of Helena requested Senate Bill 162 in the 2007 Legislature. He said that having sat on a task force on newborn screening, he knew how far behind the curve Montana was.

Helena’s Shodair Children’s Hospital was among the proponents of the bill.

Ellen Livers, director of management services at Shodair, said screening was being applied differently in different communities, which was a big motivation for Shodair’s involvement.

“There really was a sense that there wasn’t consistent care,” Livers said. “That was where we came up with the concept of the long-term followup.”

Anne Seliskar is the care coordinator of Shodair’s followup program.

She said Shodair’s role is to assist primary doctors in obtaining patients’ diagnosis and to monitor the treatment’s effectiveness.

“We know it’s effective,” Seliskar said. “We know it works.”

Joan Reichert, metabolic nutritionist with Shodair, said most of the conditions screened for require the babies to get special medical formulas. Reichert works with the doctors to make sure patients are getting the proper formulas on a regular basis.

“If they get the proper formula, they can develop normally,” Reichert said.

Four years after Derek Twardosky was diagnosed with cystic fibrosis, his mom says, you wouldn’t know anything was ever wrong with him. Derek is still small, but he’s back in the range of normal. He’s no longer sickly. He runs and plays just like any normal child.

Derek still faces an uncertain future. Many with the disease die in their 20s and 30s, but with improved treatments, babies born today can expect to live into their 40s or 50s and beyond.

Jill doesn’t like to think about Derek’s life expectancy, however. She focuses instead on what her family can do from week to week to enjoy life.

She said that everywhere she goes, she sees happy mothers with their new babies — just like she was after Derek was born. It used to send a shiver down her spine to think that some of those families could wind up going through the same ordeal hers did.

But now she is glad she could play a role in getting the legislation passed, allowing some peace of mind.

“I’m thrilled,” she said. “These babies are being protected from the health issues that Derek went through.”

Features editor Joe Menden: joe.menden@helenair.com or 447-4087