I thought I would share a little history about Cystic Fibrosis so you can see where it all began. Well, I mean that metaphorically.
In 1936: A Swiss pediatrician first named the disease. He referred to it as cystic fibrosis with Bronchiectasis. A scientist from Columbia University first developed a complete profile and description of cystic fibrosis symptoms.
In 1938: Dr. Dorothy Andersen described the characteristic cystic fibrosis of the pancreas, correlating it with the lung and intestinal disease prominent in CF, but this was not yet much help with treatment.
In 1949: Dr. Anderson also discovered that cystic fibrosis was caused by a recessive mutant gene.
In 1953: the Pediatric Society noticed cystic fibrosis patients suffered from excessive dehydration during a heat wave in New York City. Columbia University discovered cystic fibrosis patients were secreting large amounts of salt in their sweat. This is what led to developing the sweat test to diagnose cystic fibrosis.
In 1980s: researchers discovered organ damage caused by cystic fibrosis was caused by the malfunction of the epithelial tissue.
In 1989: Discovery of the cystic fibrosis trans-membrane conductance regulator gene. A pair of scientists discover and isolate the gene responsible for cystic fibrosis. The gene was credited to the chromosome number 7. The abnormality in the number 7 chromosomes affects the glands that produce sweat and mucus. Our bodies need sweat to keep cool but the mutant gene causes excessive loss of salt in the sweat.
In 1990’s: Use of gene replacement therapies began as part of the treatment for cystic fibrosis. Also, mucolytic Pulmozyne was approved which was the first drug designed to target cystic fibrosis. It helps thin the mucus to make it easier to get out.
In 2000’s: The median life expectancy reached 37 years in 2005, compared to a mere five years around 50 years ago. (See more below)
In 2012: Kalydeco was approved for the G551D mutation in the CFTR gene. The G551D mutation is only about 4% of the CF population in the US. Kalydeco help the defective gene work correctly. Kalydeco has now been approved for other mutations including G178R, S549N, S549R, G551S, G1244E, S1251N, S1255P and G1349D.
CF is now a part of newborn screening in all 50 states!! This is a big deal because this means that CF can be diagnosed sooner which means treatment can start sooner. With treatment starting sooner it means that kids can have a better quality of life and stick around longer. Before there was newborn screening people weren’t tested until they showed signs/symptoms of CF. The sooner the better when it comes to diagnosis.
An estimated 30,000 children and adults in the United States (70,000 worldwide) have CF. I joke that this statistic number hasn’t changed in 30 years so we must be evening out over all these years. I highly doubt it really hasn’t changed but it gives you an idea of how many people have CF.
People with only one copy of the defective CF gene are called carriers, but they do not have the disease themselves. Each time two CF carriers have a child, the chances are:
25 percent (1 in 4) the child will have CF
50 percent (1 in 2) the child will be a carrier but will not have CF
25 percent (1 in 4) the child will not be a carrier and will not have CF
There are more than 1,800 known mutations of the CF gene. Because there are so many, most genetic tests only screen for the most common mutations.
An additional 10 million people — about one in every 31 Americans — are symptomless carriers of the defective CF gene.
CF is most common in Caucasian people, but is found in people of all races and many ethnicities.
Finally I will share life expectancy statistics. Remember this is just a number and no one can predict how long someone with CF will live. Many different factors — for example, severity of disease and age at diagnosis — can affect an individual’s health and the course of the disease. According to the most recent Patient Registry data, the median predicted age of survival for people with CF is in the early 40s. Median predicted age of survival is the age by which half of the people tracked in the Patient Registry would be expected to survive, given the ages of the patients in the Registry and the distribution of deaths in a particular year. In the 1950s, children with CF were not expected to live long enough to attend elementary school. Today, approximately half of all people with CF in the United States are 18 years or older. The steady “aging” of the CF population reflects the remarkable progress that has been made in understanding and treating CF. CF is no longer considered a pediatric disease but an adult disease as well. When I was born the life expectancy was around 12 years old. It has come a long way.
I know this a lot of information to take in at once but this is what it is. Research has come a long way and I hope to see more strides made towards a cure in my lifetime. Many different factors — for example, severity of disease and age at diagnosis — can affect an individual’s health and the course of the disease.
Don’t forget to wear your purple to show support of CFers everywhere. Feel free to share my blog to spread awareness. Thank you for reading.
Until next time…