CYSTIC FIBROSIS: THE LIFE ON PENDING

LUNG INFECTION WITH NO MERCY

Justin Baldoni directed one amazing drama, back in 2019 “Five feet apart” and I must admit I have heard, for the first time, about cystic fibrosis or, at least, I saw the pain behind the scene of those who suffer from this disease. The movie was actually inspired by real story of Claire Wineland , the cystic fibrosis patient and social activist who died at 21, after a lung transplant in 2018, at age of 21. Claire was a lovely soul who founded non-profit organisation for helping children with this dangerous disease and help them and their families cope with challenges. This amazing girl from Texas inspired the Justin to create Stella Grant and present Claire´s battle to the people across the world. I think he made doing it because since this movie, I think always about those people and their daily lives and all obstacles they meet and keep going, with a smile.

How we can understand this illness ? This is one progressive and genetic disease that causes lung infection and further deviation of breathing and normal living or as doctors write: “In people with CF, mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause the CFTR protein  to become dysfunctional. When the protein is not working correctly, it’s unable to help move chloride — a component of salt — to the cell surface. Without the chloride to attract water to the cell surface, the mucus  in various organs becomes thick and sticky. In the lungs, the mucus clogs the airways and traps germs, like bacteria, leading to infections, inflammation i respiratory failure, and other complications. For this reason, minimising contact with germs   is a top concern for people with CF.”

The typical symptoms are the following: very salty-tasting skin, coughing with phlegm, frequent pneumonia or bronchitis, shortness of breath, poor with gain in spite of good appetite, bulky stools and usually it happens that males have an issue with infertility.

The disease is a genetic mystery. The science has investigated the genesis of the cystic fibrosis and concluded that people with CF inherited two copies of defective CF gene – one from each parent. It means that both parents have, at least, one copy of defected gene. The fact is that those who have copy of defected CF gene are known to be carriers but they don’t have CF themselves. Nevertheless, when two carriers come together, it may happen that child is targeted with this cruel genetic problem. The statists goes back and forth and offer the estimation that in the mixture of two carriers, we have some of the next scenarios: 25% (1 in 4) the child will have CF; 50% (1 in 2) the child will be carrier as parents, 25% (1 in 4) wont have CF and also wont be carrier, the best possible outcome.

The mutation is that what turn defective CF gene into the night mare. There are more than 1,700 mutations of this illness and each of them is unique but the pain is a common.

The main important thing is to have a right diagnosis and on time, which starts with newborn screening and sweat test or carrier test. The majority of patients have been diagnosed by the age of 2, the rare have experienced it later, as adults.

The US has more than 30,000 CF patients while the rest of 70,000 is worldwide. Unfortunately, every new year is this number increased for more 1,000 cases. The population hit by this disorder is 50% under age 18 and 50% above age of 18.

There is no clinical picture that is always the same and that follow each individual case with CF. As always, the disease is smart and it adapts on the local conditions, which means , the course of cystic fibrosis is somehow different from patient to patient but the outcome is the same. Life on pending, silent hope and retreat.

I like to think that there must be always a hope or the big treasure of hidden hope that those people need to search for and to find. It is always impossible unless someone does it. The life with CF is difficult and challenging, under constant risk that something will be worse or will be fatal. I guess that this thought is one of the biggest enemy of the CF patient and their beloved family. You never know how much time you got but does anyone from the rest of us knows at all ? The devoted medical workers and family members are the shield of strength for CF patients because they direct their life goals and health options. They show them the way when they are lost and help them to not lose the perspective, even when all is so stormy.

The CF Foundation has about 130 care centers that have advanced healthcare professionals, skilled to deal with challenges of cystic fibrosis. Those medical people will help the patients go through the stages as smooth as it is possible, applying some of the treatments, crucial for well being of CF patients. This includes the airway clearance, inhaled medicines, pancreatic enzyme supplements , individual fitness plan and CFTR modulators.

In 1955, when group of heartbroken parents founded this Foundation, there was not such a brilliant phase in medicine and the cystic fibrosis has been a closed book. It is still a mystery but there are new opened roads and the new clinical understanding is giving us the positive ideas and hope that science will find, one day, a cure that will get rid of CF for all times.

Through the different financial support and laboratory research , the Foundation has made a great step into battling the disease in its own field, trying to offer the life and light, instead of death and darkness.

The clinical studies are on progressive levels and there are options and possibilities for patients to pick up new modus operandi and try with some of them. There is no guarantee but the science doesn’t give up on helping sick people and those who love them.

There are many patients who accepted the life limitation with CF and they count every day as the last day but I really live for the day when they wake up and know that there is a day after tomorrow, their day, their life and their own sunshine, without pain and tears, without terminated dreams about future. They deserve it more than science deserve just a big applause for a cure. We all owe them that, support for reaching free the tomorrow.

Yes, it is not easy, it is painful and terrible but it must be better, it will be better. Each day we are all closer to that moment when CF patents will know that there is a solution for a gene that changed the whole genetics and life circumstances. If there is a will, there is a way. I believe in all Stella and Will of this wonderful world.

2 thoughts on “CYSTIC FIBROSIS: THE LIFE ON PENDING

  1. Sarah’s evocative and informative article reminded me of the pioneering pathologist Dr Dorothy Andersen (1901-1963), who was the first scientist to identify cystic fibrosis correctly, in 1938.

    Pathologists believe the CF ΔF508 mutation (i.e. gene issue of cystic fibrosis) emerged around 60,000 years ago, when migrations of Homo sapiens altered dietary habits, genetic sharing, exposure to new environments, etc.

    Someone with the mutation will produce an abnormal protein that lacks phenylalanine residue and which cannot fold properly. This protein does not escape the endoplasmic reticulum for further processing. Having two copies of this mutation (one inherited from each parent) is by far the most common cause of cystic fibrosis; responsible for 70% of cases worldwide.

    Dorothy Andersen graduated from a progressive university in Massachusetts in 1922 with a BA in zoology and a BA in chemistry. She went on to undertake research at John Hopkins School of Medicine (JHSM), under the mentorship of Dr Florence Sabin (1871-1953): the first woman to hold a full professorship at JHSM.

    After completing an internship at a hospital, Dr Dorothy Andersen was denied residency as a general surgeon because of her gender, in 1928. This influenced her decision to focus on research, and she joined Columbia University’s College of Physicians & Surgeons in 1929, where she completed her Ph.D. in endocrinology.

    Later, she would commence a career in a pediatric hospital, where her research into celiac disease (i.e. via autopsy) led her to believe that there were similarities in tissue scars of the lung and pancreas: the appellation of ‘cystic’ deriving from the cysts (published in The American Journal of Diseases of Children in 1938).

    In 1942, along with a colleague, Dr Dorothy Andersen developed the first efficient diagnostic test for cystic fibrosis. This allowed children with cystic fibrosis to live longer, through specific treatments; although, they would die in early-adulthood.

    It was until the early-1980s that researchers were able to determine the actual cause of cystic fibrosis: a single mutation causing incomplete synthesis of a protein; resulting in problems in the pancreas and respiratory tract.

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  2. You are so awesome! I do not believe I’ve read a single thing like this before. So good to find another person with some genuine thoughts on this topic. Really.. thank you for starting this up. This web site is something that is needed on the web, someone with a bit of originality!

    Like

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About Sarahowlgirl1982

I am a master of Political Sciences, with special focus on Security Studies, Islamic Counter Terrorism and Weapons of Mass Destruction. I enjoy discovering and commenting things which are " in the air" but still not spoken.I also do like science writing and planing to move myself into the pure science journalism !