Knowledge about Cystic Fibrosis had to start somewhere. Here
is a brief history of how we got to where we are.
· 1700’s- Cystic Fibrosis was still hundreds of years from being discovered and figured out, but a vague awareness of the disease was present. Though they didn’t understand why, the German staying, “A child whose forehead tastes like salt when kissed with soon die,” wasn’t too far off base. The taste of salt on the child’s skin was caused by the extra salty sweat.
· 1930s- The first official record of Cystic Fibrosis was begun by a Swiss pediatrician, Dr. Fanconi. He referred to the disease by calling it “celiac syndrome,” believing that the disease was a disorder in the pancreas. Though he was partly right, his findings were only a jumpstart to the rest of the discoveries. For example, later in the 1930’s, Dr. Dorothy Andersen named the disease Cystic Fibrosis, diagnosing it as a deficiency of Vitamin A. Have we seen the symptoms start to fall into place? First awareness of salty sweat, then concerns with the pancreas and absorption of Vitamin A in the digestive system. We are missing the big picture though.
· 1940’s- Dr. Sidney Farber and Dr. Harry Shwachman (who, in my opinion, has the coolest name ever) figured out the unusual mucus situation. Their connection to this abnormality brought together the big picture of Cystic Fibrosis—extra thick mucus causes complications in certain organs of the body.
· 1950’s- A heat wave in New York caused lots of sweat—and in those with Cystic Fibrosis, a lot of lost salt. The development of the sweat test of diagnosis (a test in which salt content of sweat is tested; high levels are a strong indication of being affected by the disease) by Dr. Paul di Sant’Agnese came about, giving doctors a way to diagnose the illness.
· 1955- Finally a foundation for effective treatment of Cystic Fibrosis is developed: early diagnosis, early treatment, and proper nutrition. Though these seem like the obvious steps for any health concern, this plan was the starting point for modern treatments of the disease. At the same time, one of the theories for proper nutrition, from Dr. Archie Norman, came out: a high fat diet for patients with the disease.
· 1970- The Cystic Fibrosis Foundation started the use of patient registry.
· 1989- The Cystic Fibrosis Transmembrane Conductance Regulator gene is discovered! Now we know what CF is, how it passed on, and exactly what causes the symptoms and complications of the disease on a molecular level.
· 1990’s- Many advancements have been made in treatment. One such specific example is the FDA approval of the first drug targeted directly at Cystic Fibrosis. This drug, Pulmozyne, was the first, but many different medications and treatments have come about since.
· To come- Efforts are being put forth to find a way to cure CF for good. In 2009, a virus was turned into a very infectious form and used as a carrier for gene therapy. The first gene therapy test completely cured Cystic Fibrosis affected human lung tissue in culture. About a year ago (May 2011), for example, an 11th grader in Canada used a super computer to find what could be developed into a “cure” for CF; this cure would be a combination of medications to combat the function of cells to work the same way a healthy person’s would. This year, financial support has been given to researchers in the UK who have developed a form of therapy that would use liposomes to transfer CFTR into cells. This form of therapy would not change the actual genetic code of patients and would have to be given regularly. The trial being conducted has treatment being administered every month for a year.
· 1700’s- Cystic Fibrosis was still hundreds of years from being discovered and figured out, but a vague awareness of the disease was present. Though they didn’t understand why, the German staying, “A child whose forehead tastes like salt when kissed with soon die,” wasn’t too far off base. The taste of salt on the child’s skin was caused by the extra salty sweat.
· 1930s- The first official record of Cystic Fibrosis was begun by a Swiss pediatrician, Dr. Fanconi. He referred to the disease by calling it “celiac syndrome,” believing that the disease was a disorder in the pancreas. Though he was partly right, his findings were only a jumpstart to the rest of the discoveries. For example, later in the 1930’s, Dr. Dorothy Andersen named the disease Cystic Fibrosis, diagnosing it as a deficiency of Vitamin A. Have we seen the symptoms start to fall into place? First awareness of salty sweat, then concerns with the pancreas and absorption of Vitamin A in the digestive system. We are missing the big picture though.
· 1940’s- Dr. Sidney Farber and Dr. Harry Shwachman (who, in my opinion, has the coolest name ever) figured out the unusual mucus situation. Their connection to this abnormality brought together the big picture of Cystic Fibrosis—extra thick mucus causes complications in certain organs of the body.
· 1950’s- A heat wave in New York caused lots of sweat—and in those with Cystic Fibrosis, a lot of lost salt. The development of the sweat test of diagnosis (a test in which salt content of sweat is tested; high levels are a strong indication of being affected by the disease) by Dr. Paul di Sant’Agnese came about, giving doctors a way to diagnose the illness.
· 1955- Finally a foundation for effective treatment of Cystic Fibrosis is developed: early diagnosis, early treatment, and proper nutrition. Though these seem like the obvious steps for any health concern, this plan was the starting point for modern treatments of the disease. At the same time, one of the theories for proper nutrition, from Dr. Archie Norman, came out: a high fat diet for patients with the disease.
· 1970- The Cystic Fibrosis Foundation started the use of patient registry.
· 1989- The Cystic Fibrosis Transmembrane Conductance Regulator gene is discovered! Now we know what CF is, how it passed on, and exactly what causes the symptoms and complications of the disease on a molecular level.
· 1990’s- Many advancements have been made in treatment. One such specific example is the FDA approval of the first drug targeted directly at Cystic Fibrosis. This drug, Pulmozyne, was the first, but many different medications and treatments have come about since.
· To come- Efforts are being put forth to find a way to cure CF for good. In 2009, a virus was turned into a very infectious form and used as a carrier for gene therapy. The first gene therapy test completely cured Cystic Fibrosis affected human lung tissue in culture. About a year ago (May 2011), for example, an 11th grader in Canada used a super computer to find what could be developed into a “cure” for CF; this cure would be a combination of medications to combat the function of cells to work the same way a healthy person’s would. This year, financial support has been given to researchers in the UK who have developed a form of therapy that would use liposomes to transfer CFTR into cells. This form of therapy would not change the actual genetic code of patients and would have to be given regularly. The trial being conducted has treatment being administered every month for a year.
These advances and many more to come have changed the
outlook for patients significantly. It’s all uphill from here.
Keep Hope,
Cystic Sister @---
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