Filtering by Tag: mutations

Simply CF : Put to the Test

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.
 

The beginning of every Cystic Fibrosis (CF in every occurrence after) story starts with a series of tests. The tests prove a positive diagnosis. But, what exactly are the tests that confirm the presence of CF?"

Newborn Screening
In every U.S. state, babies are now required to undergo newborn screenings upon birth. The screenings are for a myriad of serious medical conditions, including CF.

Early detection is key to monitoring any condition and implementing treatment, especially CF. Within the first few days of life, a blood test is done to check for certain medical conditions. If the blood test comes back positive for CF another test will be conducted to confirm or rule out a CF diagnosis. Early intervention of CF is crucial to ongoing care, quality of life, and preventing lasting damage caused by the disease.  

Sweat Test
If a person is showing symptoms of CF or a newborn screening is positive for CF, a sweat test will be done to confirm a CF diagnosis by an accredited CF Center. A sweat test can be done at any age. A sweat test measures the amount of salt in a person’s sweat. People with CF have a high concentration of chloride in their sweat due to the genetic nature of cystic fibrosis. Depending on the amount of chloride found in the sweat of the individual tested determines the CF diagnosis.

Genetic Testing
If there is any discrepancy in the outcome of the sweat test results, genetic testing will take place. A blood sample is checked for specific defects in the gene that causes CF.vA genetic test is also done after a positive diagnosis to help learn more about the person’s mutations.  

Upon a confirmed diagnosis of cystic fibrosis, an individualized treatment plan will be put into place and a new story will be written by all those impacted by that diagnosis of cystic fibrosis – each unique and born of their own great tenacity.

 

To learn more about CF testing please visit https://www.cff.org/What-is-CF/Testing/

 

 

 

Source: Cystic Fibrosis Foundation

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 : 1,800

It takes two copies of the defective CFTR gene to cause cystic fibrosis, as we talked about in the Simply CF: A Common Carrier. But did you know that the two mutations that cause CF do not have to be the same? There are over 1,800 different mutations that cause CF! Some mutations are more common than others. For example, the mutation known as Delta f508 is present in over 70% of the CF population while the remaining 30% are made up of rare or nonsense mutations.

 

So it would be easy to think that those with the same mutations of CF would have the same symptoms and complications, right? Actually, that isn’t so. Individuals with the same mutations may not experience the same symptoms or complications. Each mutation and combination of mutations manifests differently in each unique individual with CF and does not define the severity of the disease.


A person with CF is only 1 of 70,000 people in the world, and with 1,800 different mutations that cause the disease that makes each person with CF even more unique! 
 

 

 


Source: Cystic Fibrosis Foundation & John Hopkins CF Center

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 : It's Complicated

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. 

 

 

CF is a complex disease that does not isolate itself to one specific area of the body. Its primary effects may manifest in the lungs and pancreas, but its devastation can be felt through every major system of the body.

The Lungs - Because of the defective CFTR protein talked about in the previous post, “Simply CF : The Cause Of It All”, the body produces a thick sticky mucus that clogs the airways and respiratory system. This thick mucus is a perfect environment for deadly bacteria and infection to thrive leading to clogged airways, scarring, excessive and recurrent respiratory infections, and decreased lung function.

The Pancreas - Sticky and thick mucus cause plugging in ducts of the pancreas, preventing the release of normal enzymes to aid in digestion and absorption of fats and proteins. This can result in malnourishment and a failure to thrive. Some people with CF have difficulty gaining and maintaining a healthy weight.

Sweat glands - A loss of too much salt through a person with CF's sweat causes an imbalance of vital minerals and dehydration in the body. 

Much More - Because these main organs and systems are directly affected by cystic fibrosis, secondary complications can arise in other vital organs and systems in the body: cardiovascular system, reproductive system, liver, gallbladder, kidneys, CFRD (Cystic Fibrosis Related Diabetes), bowel obstructions, increased risks of cancer, sinusitis and nasal polyps, osteoporosis, and arthritis. 

 CF is a complex and complicated disease that manifests itself differently in every person diagnosed. The disease affects each person in so many different ways making treatment of the same disease in two different people a challenge. It is so important that new treatments continue to be researched and studied - giving insight into CF's complexity that may lead to life-altering treatments for each unique person with CF.  

 

 

 

Source: John Hopkins CF Center- hopkinscf.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.