A recent compelling article on the PLOS Blog by writer and geneticist Ricki Lewis, PhD, highlights the third season of the BBC series Call the Midwife, which in its opening episode reveals how testing for cystic fibrosis (CF) mutations — the modern method for diagnosing the disease — was once done by much simpler methods in ages past.
Dr. Lewis recounts that in a March episode, a young mother observed that her month-old son stopped gaining weight, was fussy and was experiencing abdominal pain. Moreover, her son was producing foul-smelling loose stools. Many of you as viewers probably recognize the classic signs of CF, however the nurse/midwives, nuns and only doctor didn’t. Both the month-old (Ian) and his toddler brother Martin choked on phlegm.
Previously, the father told nurse-midwife Jenny Lee, played by Jessica Raine, that his brother died when he was four years old, and no one knew why. His two young sons were bringing back bad memories. Now that some of the father’s history was known, the pieces began to fall into place.
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Nurse Jenny was currently staying at a convent known as Nonnatus House back in 1957. This was housing for nurse-midwives. Sister Monica Joan, a resident as the convent, believed to be senile at the time, noted that Ian’s brow was salty to the taste. She quickly went to the library and came back. She quoted “from Queen Anne’s time:” “Woe to the child which when kissed on the forehead tastes salty. He is bewitched and soon must die.” In the past, no one had paid attention to this old adage. The doctor notes, perhaps she is depressed, which is making her neglectful. In the meantime, nurse Jenny is thumping away on the boys chest to free him of mucus. A short while later, the decidedly senile nun went out into a rainstorm to place the book into the hands of the doubting doctor. He finally read it and realized that the boy had CF.
Cystic fibrosis was first described in medical journals in 1938 as a problem in channels coming from certain glands. This causes a thick mucus to build up and results in lung infection. This can also affect the pancreas and creates a salty sweat. Children with CF have frequent infections and grow slowly and often are initially diagnosed with failure to thrive. In the early 1900s, several doctors reported that oily smelly stools, cough, and death in early childhood often went together. It wasn’t till 1938, Dr. Dorothy Andersen at Babies’ Hospital of New York published a paper naming the disease (CF). In 1953 came the “sweat test”, after a heat wave in New York City filled emergency rooms with children who had CF. These children were the first to die from dehydration and heat exhaustion. By 1989, Dr. Lap-Chee and colleagues discovered the gene responsible for CF. The gene codes for a protein known as the cystic fibrosis transmembrane regulator (CFTR).
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New strategies have been developed that have improved the median life expectancy from age 5 to the early 40s. Researchers target the 1600+ ways that CFTR ion channels can misform and misfold. Therapies range from postural drainage, enzymes (put on foods), antibiotics, anti-inflammatories, nuclease-based Pulmozyme (a drug that breaks up mucus) and vibrating vests. A new drug coming known as Ataluren has the ability to shield nonsense mutations found in some CF patients that enables to production of the CFTR protein. Another drug, Kalydeco has the ability to refold the abnormal chloride channel so it can make its way to the cell membrane.