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Simply CF : A Cause for Celebration

Cystic Fibrosis is a complex and sometimes confusing disease. Each installment of Breathe 3-65 called,"Simply CF" will strive to explain the complexities of CF in a concise and accessible way.


Celebration

While a life with cystic fibrosis may have its share of days that are difficult and burdensome, there are indeed days that are filled with unprecedented celebration in our CF community. With continued hope there surely will be many more days of celebration to come.

This past week on Thursday, September 29 there was cause for great celebration in the world of CF. Orkambi, a specialty medication that treats the underlying cause of cystic fibrosis for people with two mutations of F508del, was approved by the FDA for children as young as six. This news gives such hope to so many families and people with CF. In July of 2015 Orkambi was only approved for people with cystic fibrosis twelve years of age and older.

Orkambi and Kalydeco
There are now two life changing drugs of its type in the fight against CF: Orkambi and Kalydeco. These medications are the first of their kind approved by the FDA in the CF community. These medications do not treat the symptoms of CF but target the underlying cause of CF down to the genes themselves. These medications aim to improve the functionality of the CFTR proteins. They aim to make the mutated genes work more normally in hopes that the progressive debilitating effects of cystic fibrosis will be slowed or minimized. This is not a cure and there’s no guarantee that all who take it will experience a great margin of positive change. But it is surely life changing and something to greatly celebrate. 

Within the last twenty-five years there have been incredible advances in the treatment of CF. Advances that have allowed many of us to live well beyond that in which our parents were told. Advances that allow every day to be a celebration for those of us living with CF. Advances that give us hope that someday all people with CF regardless of their mutations will be eligible for such life-changing drugs. Advances that will give us all another day to celebrate together.

 

For more information about CF mutations and the cause of CF please read: The Cause of it All

Disclaimer: The writings and postings of Breathe 3-65 are a reflection of the personal opinions, experiences, and knowledge of the contributing author. Breathe Bravely is not liable for the statements and personal opinions shared. The material of Breathe 3-65 is provided with the best intention and great care is taken to share information from credible sources. However, the content shared on this blog is not medical advice and is not under any condition a substitute for the medical advice provided by your medical providers. Please consult your care team before making any changes or additions to your current CF treatment plan.

Simply CF : Signs & Symptoms

Cystic Fibrosis is a complex and sometimes confusing disease.
Each installment of Breathe 3-65 called,"Simply CF" will strive to explain the complexities of CF in a concise and accessible way.

Even though CF is an invisible disease on the outside the symptoms and complications associated with the disease are not. Breathe 3-65 has shared the complications of CF in our previous post Simply CF : It’s Complicated but what are some of the specific signs and symptoms of CF?

Cough – Because CF impacts the lungs and causes extra thick, sticky mucus to build up in the body, the respiratory system’s defense amidst such irritation and complications is persistent coughing. Coughing is the body's way of trying to move the mucus up and out, clearing the airways. With this extra irritation can come wheezing and breathlessness.

Poor Growth – That thick, sticky mucus also affects the pancreas and its ability to effectively work to produce enzymes. Without those key enzymes the body is unable to adequately take in vital nutrients and effectively digest food. This can lead to malnourishment and can stunt development.

Respiratory Complications – That excess of thick, sticky mucus in the lungs is a perfect place for bacteria and infection to thrive, causing frequent lung infections such as pneumonia or bronchitis. It can also cause people to have frequent issues and infections associated with the sinuses.

Salty Skin – Before there was even such a name for it, parents of children with CF would note a salty taste to their children's skin when they would kiss them. CF causes the body to produce an imbalance of chloride in the body making sweat extra salty.

Digestive Complications – Because of complications with the pancreas, problems with digestion are common. This complication then causes difficulties with bowel movements, frequent greasy or bulky stools, or intestinal blockages.

The body is incredibly complex. Systems within our body work both simultaneously together and separately for the same ultimate purpose – to live. Much of what keeps each of us alive takes place beneath the surface of our skin and is invisible to the unknowing eye. CF is an invisible disease and most of its symptoms are equally invisible to the eye. However, the symptoms and signs of CF are anything but invisible within the bodies of those affected. 

 

 

Only a doctor or trained medical professional can diagnose cystic fibrosis. For further questions or to discuss symptoms in detail please contact your doctor.

Source: CFF.org

Disclaimer: The writings and postings of Breathe 3-65 are a reflection of the personal opinions, experiences, and knowledge of the contributing author. Breathe Bravely is not liable for the statements and personal opinions shared. The material of Breathe 3-65 is provided with the best intention and great care is taken to share information from credible sources. However, the content shared on this blog is not medical advice and is not under any condition a substitute for the medical advice provided by your medical providers. Please consult your care team before making any changes or additions to your current CF treatment plan.

Simply CF : The Cause of It All

Cystic Fibrosis is a complex and sometimes confusing disease.
Each installment of Breathe 3-65 called,"Simply CF" will strive to explain the complexities of CF in a concise and accessible way.

Salty

For many decades parents noticed a distinct salty taste left upon their lips when kissing their child's skin. Today, we know that salty skin is a prominent characteristic of CF and is a result of the defective CF gene. That salty skin is only a small glimpse, however, into a systemic imbalance with life-altering implications hidden within every cell.

So what exactly causes people with cystic fibrosis to be so salty and what complications arise from such saltiness? Well, it’s the very cause of cystic fibrosis itself:

The Cause Of It All

Cystic Fibrosis is caused by a genetic mutation of the gene that is responsible for creating the CFTR protein. Two copies of the faulty gene must be present for a person to have cystic fibrosis. The CFTR protein is an important protein that transports salt into and out of our body’s cells. As salt moves in and out of cells, so do water molecules.

 

In CF, the defective CFTR proteins disrupt the important salt regulation and transportation of it into and out of the body’s cells, resulting in a salt and water imbalance on the lining of organs such as the bowel, pancreas, and lungs. In a person with normal CFTR proteins, as salt moves out of cells, so does water and the body is able to thin and move mucus on the linings of these organs in a normal manner. But in a person with CF, the imbalance of salt results in too little water causing a buildup of thick and sticky mucus in the body. The sticky mucus and the inability to clear it causes reoccurring respiratory infections and other systemic complications throughout the body. (More information to come on CF’s systemic effects in future Simply CF posts). 

Finding Balance

Salty skin and sticky mucus. They go hand in hand and are the underlying results of the defective gene and faulted CFTR protein that cause cystic fibrosis. So what if the CFTR protein in a person with CF could be corrected or restored to a more normal state? It could be life changing. Kalydeco® and Orkambi® are two medications available in the US that help restore CFTR protein function. These treatments are approved for patients with specific mutations and are not a cure but significantly improve health.  Further research and treatment development are underway to correct the defective CFTR protein.

 

 

Want to learn more about the CF gene and how someone is born with CF? Read “A Common Carrier” – a previous post about CF genetics. 

Disclaimer: The writings and postings of Breathe 3-65 are a reflection of the personal opinions, experiences, and knowledge of the contributing author. Breathe Bravely is not liable for the statements and personal opinions shared. The material of Breathe 3-65 is provided with the best intention and great care is taken to share information from credible sources. However, the content shared on this blog is not medical advice and is not under any condition a substitute for the medical advice provided by your medical providers. Please consult your care team before making any changes or additions to your current CF treatment plan.