Filtering by Tag: Genes

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 : 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 : 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.

Simply CF : A Common Carrier

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. 

 

A Common Carrier

Approximately 30,000 people in the United States have Cystic Fibrosis. But, did you know that 1 in 31 people in the US are carriers of the CF gene? That’s about 10 million Americans! That could be you!

 

How does someone get CF?

In order to have CF, both parents must be carriers of the CF gene. However, even if both parents are carriers of the CF gene it does not guarantee that the child will have CF. A child must receive a defective CF gene from both carrier parents in order to be diagnosed with CF. If the child receives one defective gene and one normal gene, the child will also be a carrier but will not have CF. If both parents are carriers, there’s only a 25% chance that their child will inherit two sets of the defective gene. Every year, about 1,000 new cases of CF are diagnosed in the United States.

 

What does it mean to be a “carrier?”

A carrier has a single copy of the defective CF gene and a single copy of a normal gene. Carriers do not have Cystic Fibrosis.

 

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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.