Learn about cystic fibrosis, a genetic disorder that affects the lungs, pancreas, and other organs, and how to treat and live with this chronic disease.
CF is a rare genetic disease found in about 30,000 people in the U.S. If you have CF or are considering testing for it, knowing about the role of genetics in CF can help you make informed decisions about your health care.
If you or your child has just been diagnosed with cystic fibrosis, or your doctor has recommended testing for CF, you may have many questions.
Diagnosing CF is a multistep process. A complete diagnostic evaluation should include a newborn screening, a sweat chloride test, a genetic or carrier test, and a clinical evaluation at a CF Foundation-accredited care center.
Raising a child with cystic fibrosis can bring up many questions because CF affects many aspects of your child’s life. Here you’ll find resources to help you manage your child’s daily needs and find the best possible CF care.
Living with cystic fibrosis comes with many challenges, including medical, social, and financial. By learning more about how you can manage your disease every day, you can ultimately help find a balance between your busy lifestyle and your CF care.
People with CF are living longer, healthier lives than ever before. As an adult with CF, you may reach key milestones you might not have considered. Planning for these life events requires careful thought as you make decisions that may impact your life.
People with cystic fibrosis are living longer and more fulfilling lives, thanks in part to specialized CF care and a range of treatment options.
Cystic Fibrosis Foundation-accredited care centers provide expert care and specialized disease management to people living with cystic fibrosis.
We provide funding for and accredit more than 120 care centers and 53 affiliate programs nationwide. The high quality of specialized care available throughout the care center network has led to the improved length and quality of life for people with CF.
The Cystic Fibrosis Foundation provides standard care guidelines based on the latest research, medical evidence, and consultation with experts on best practices.
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As part of the Cystic Fibrosis Foundation's mission to help improve the lives of people living with cystic fibrosis, the PSDC initiative taps the CF community to inform key efforts to support the management of daily care.
Your cystic fibrosis care team includes a group of CF health care professionals who partner with you to provide specialized, comprehensive CF care.
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The Cystic Fibrosis Foundation is the world’s leader in the search for a cure for CF and supports a broad range of research initiatives to tackle the disease from all angles.
The CF Foundation offers a number of resources for learning about clinical trials and treatments that are being developed to improve the treatment of cystic fibrosis.
Our understanding of CF continues to evolve as scientists study what causes the disease and how it affects the body. These insights drive the development of new and better treatments and bring us one step closer to a cure.
Researchers, supported by the CF Foundation, have made tremendous advances to improve the health and quality of life of people with CF. We are committed to providing the tools and resources you need to continuously build upon this work.
Participating in the RARE study gave me an opportunity to play a role in finding a therapy that one day could help me and other people with CF who have two nonsense mutations.
June 14, 2018
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I was asked to participate in the RARE mutation study by my pulmonologist, whom I have known for many years (over 10). She and I have a very good relationship and typically she asks me to participate in the more “interesting” studies (more interesting to me, anyway). After hearing about it, I of course agreed to participate.
“You might not be so quick to say yes,” she responded, “if you knew the tissue sample is collected via rectal biopsy.” At the time, I couldn't tell whether she was messing with me.
There are more than 1,700 different mutations that affect the production of the cystic fibrosis transmembrane conduction regulator (CFTR) protein. A missing or dysfunctional CFTR protein causes cystic fibrosis.
Thanks to advancements in medical treatment, new therapies are being developed that target the underlying mutations that are responsible for CF. Many of these CFTR modulator therapies focus on the most common mutation, F508del. These therapies are not designed for patients with rare mutations, including nonsense or stop mutations. To that end, the RARE study, which is being conducted at six sites nationwide, is focused on collecting cells from patients like me with two nonsense mutations to study potential treatments.
The study consists of a blood draw, nasal cell collection, and an optional portion that includes a rectal biopsy. I can't lie. I wasn't sold on the prospect of a rectal biopsy. This seemed like it would be quite uncomfortable and inconvenient. I had participated in several studies involving blood collection and nasal brushing and knew that those things were not a big deal.
I remember going back and forth on the rectal biopsy portion of the study. As a nurse practitioner, I take care of patients all the time after they have a sigmoidoscopy/colonoscopy (insertion of a scope into the rectum to examine the bowel) and a biopsy. It never seems like a big deal from the provider prospective. Nobody is excited about it, but my patients tend not to complain afterward.
I very vividly recall standing in my kitchen one evening and thinking that because my mutations are rare, what would happen if I didn't participate in the study? What if my refusal was the reason a new therapy was never developed? That is when I knew that I would have to do the rectal biopsy portion, no matter how much I didn't love the idea.
Because only around 600 people with CF in the United States have two copies of a nonsense mutation, it is very difficult to study. The study coordinators are hoping to get 20 or 25 people to participate.
But do they really need a rectal biopsy?
It turns out that blood and nasal cells are very good for studying existing drugs or therapies, but not so great for developing new drugs. This is because the cells can be used only for so long before dying. Thanks to advancements in science, rectal tissue can be grown almost indefinitely -- that is why the rectal cells are so important. These cells can be grown for years and could potentially be used many years down the line to develop and test new targeted therapies.
Both the lead doctor and the gastrointestinal (GI) doctor who would do the biopsy told me that the GI tract does not have sensory nerves the way skin does, so aside from pressure, the biopsy shouldn't be painful (easy to say when you aren't the one going through it.) They told me that the procedure itself takes 10 minutes or less.
The blood draw was quick and easy. The nasal brushing was not bad. It was a little bit on the uncomfortable side but was very quick. It made my eyes water, more because they were poking around in my nose than from pain. The brush they use to collect the cells looks kind of like a long-handled pipe cleaner. Between the blood draw and nasal brushing, the whole collection process took less than 20 minutes.
Day two was the rectal biopsy. I decided not to take the anxiety medication they offered me. Because I tend to have a pretty regular morning bathroom routine, I did not need to do any kind of bowel prep (enema/suppository) prior to the procedure for the GI doctor to see well. The “time-out” prior to the procedure -- the part where everybody in the operating room says who they are, who you are, what they will be doing during the procedure and where -- took longer than the procedure itself.
The GI doctor was very good at talking through what he was doing. He inserted a scope (that is roughly the width of stethoscope tubing) a few inches into my backside. This only felt like pressure -- kind of like I had to have a bowel movement and was a little bit uncomfortable -- not pain.
Next, a biopsy instrument was inserted through the scope a few times. With each insertion, a biopsy was taken. I felt a tugging sensation on my inner abdomen, but this was in no way painful. In under 10 minutes, I was out of the OR and getting dressed. My mother (who drove me in case I opted to take the anxiety medication) even commented that I was in and out of the OR in less time than a regular bowel movement. I said it was because I wasn't allowed to take my phone in…
Some people have a little bit of streaking with blood that resolves after their first bowel movement, although I did not encounter this. I did have some abdominal cramping the next day, but I can't say whether it was related -- this happens to me sometimes anyway.
Honestly, the worst part of the study was the anxiety about how bad the rectal biopsy would be, which was really just energy wasted. The biopsy was quick and relatively pain free.
I was asked by the study coordinator if I would share my experience with the greater CF community in a blog. The study is very important, but there are probably a large number of people who don't know about it.
Some of the procedures involved in the study sound scary and unpleasant at first. I know that I personally was not thrilled with the idea of a rectal biopsy. After having done it, I felt that sharing a little bit of background on the study itself, as well as some of my misplaced fears, would help to inform others as to the importance of the study and give some insight to those who may be considering whether to participate.
Knowing what I know now, I would participate again without hesitation.
Adult with CF
Joey, 31, was diagnosed with CF shortly after birth. He has participated in numerous clinical trials and research studies. When he is not working as a hospitalist nurse practitioner, he is most likely spending time with his daughter and the rest of his family, taking classes, or creating art.
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This site contains general information about cystic fibrosis, as well as personal insight from the CF community. Opinions and experiences shared by members of our community, including but not limited to people with CF and their families, belong solely to the blog post author and do not represent those of the Cystic Fibrosis Foundation, unless explicitly stated. In addition, the site is not intended as a substitute for treatment advice from a medical professional. Consult your doctor before making any changes to your treatment.
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