As part of our blog series about women medical pioneers, meet Dorothy H. Andersen, the American physician, paediatrician, and pathologist who first identified cystic fibrosis.
Cystic Fibrosis
In the 1700s, the phrase “woe to the child who tastes salty from a kiss on the brow, for he is cursed and will soon die” must have been coined by someone who recognised the distinctively high salt content of affected infants’ sweat. However, cystic fibrosis was not recognised as a distinct clinical entity until an American Pathologist, Dr Dorothy H. Anderson discovered it in 1938.
Cystic fibrosis is a life-limiting genetic disorder that affects approximately one in 3,000 babies. Mutations in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR) cause abnormal salt transport, resulting in thick, sticky secretions.
Affected infants may fail to gain weight due to malabsorption and suffer from recurrent chest infections.
Finding Her Way
Dorothy Andersen was frequently described as “unladylike.” Her hobbies included swimming, skiing, hiking, canoeing, carpentry, and roofing. Her appearance was “dowdy.” She wore no make-up, tied her hair up in a bun, and was usually attired in her lab coat.
Like many pioneering women of her time, she never married. She smoked heavily and held biannual “glüg” parties in her untidy basement laboratory. Patients’ families said she was tough but very kind.
Dorothy’s Danish father died when she was 13 years old. Following his death, she cared for her mother who was an invalid, until her mother also died 6 years later.
Dorothy studied chemistry and zoology before funding her own way through John Hopkins Medical School and graduating as one of only 5 women in her class in 1926. She wanted to be a surgeon, but despite her excellent grades, was refused a training post in this specialty due to gender discrimination. Her chosen hospital, Strong Hospital in Rochester, New York had only ever employed male surgeons.
Having been denied this position, Dorothy changed course to Paediatrics and subsequently focused on Medical Research. She became a Pathologist at Babies Hospital in New York City, where she studied heart malformations and helped to develop training programs for cardiac surgeons.
An Important Discovery
At that time, patients with Cystic Fibrosis were diagnosed as suffering from Coeliac disease. Malabsorption and foul-smelling stools were common to both, and the frequent chest infections suffered by CF patients were attributed to malnutrition because of malabsorption.
In 1938, Dorothy performed an autopsy on a 3-year-old child, whom she had previously seen as a patient on the ward. “She looked terrible. She had a distended belly, skinny limbs, foul, persistent diarrhoea, and she had been diagnosed with coeliac disease and sent home. But there she was a year later, and she was dead.”
Connecting the autopsy findings with this child’s clinical presentation led Dorothy Andersen to discover the condition of cystic fibrosis. She appreciated that there were a lot of differences between cystic fibrosis and coeliac disease, particularly with the lungs.
They were plugged full of thick, sticky, green mucus. But when she came to the pancreas it was so tough, she could hardly cut into it with the scalpel. Now she knew she was dealing with an entirely new and unnamed pathology.
She went on to research 20 case studies of children with the same condition and published a 50 page paper reviewing them. Her findings and subsequent work led great improvements in prognosis for affected children.
Rugged Individualist
Nowadays, all babies born in the UK are screened shortly after birth for cystic fibrosis, as early diagnosis and treatment are enormously beneficial.
The outlook for people with this condition is infinitely better today than it was in the 1930’s and organisations such as the Cystic Fibrosis Foundation provide information and support for patients and their families and fund medical research into more effective treatments.
Dorothy herself died of lung cancer in 1963, but is gratefully remembered for her pioneering work and as a self-described “rugged individualist.”
