65_RedRoses

65_RedRoses

http://65redroses.com/ 

65_RedRoses documentary trailer

http://www.youtube.com/watch?v=Ulsm7Ai-yZY 

65_RedRoses is a documentary that follows a 23-year-old CF patient who is waiting for a double lung transplant and the friendships she develops on her blog, 65_RedRoses (65_RedRoses, 2009). Eva Markvoort vividly describes what it is like living with CF and the challenges she faces on a daily basis. She created her blog in 2006 in an attempt to reach out to other CF patients because they are isolated from one another because of infection. This can be very difficult for people struggling with CF because they cannot have support groups because they run the risk of spreading super bugs to one another, which can ruin their chances of receiving a lung transplant. I can’t imagine having a chronic disease and not being able to interact with other patients for strength and support. I think Eva did a beautiful thing by starting her blog because she created a community of love and hope for the future. When Eva created her blog, she chose the name 65_RedRoses because most children have a hard time pronouncing cystic fibrosis and red is her favorite color. Eva’s blog gathered millions of followers through her raw posts about projectile vomiting and spending hours gasping for air. Despite all her pain, she inspired people through her unconditional love and positive outlook on life. Through her blog, Eva connected with two girls, Kina and Meg, who also have CF. The girls are a great support system for one another, but they admit how hard it is to be close friends when they can become ill quickly and die from infection.

http://www.cnn.com/2010/HEALTH/04/27/blog.terminal.illness/

Eva explains that medications and therapies have helped her to survive, but sometimes when she becomes very ill it is difficult to receive the medical attention she needs at home. At the hospital she’s treated with numerous antibiotics and doctors increase her nutrition to gain weight so she can be strong enough to fight off infection. At age 23, Eva’s doctors tell her that the excess salt in her body has created so much mucus in her lungs that she only has 32% lung capacity. Without a lung transplant, Eva will die. However, the decision to receive a lung transplant is extremely difficult because it is not a cure for CF and a patient may wait days or years to find a donor with the same blood type and body tissue. Also, patients can still die from post-surgery infections or they can enter a state of chronic rejection even if they had a successful surgery. Chronic rejection occurs when an individual’s body rejects the new organ and if the body continues not to respond to the organ, then the patient will have to receive a new transplant. Sometimes, a patient does not have the strength or time to wait for a new transplant. It is in my opinion that lung transplants are not very efficacious because there are numerous health risks and their lives are up to chance since they do not know when they will receive a donor. On the other hand, it does have the ability to prolong life and give patients an opportunity to live a healthy life for a couple of years, which can truly make a difference.

Eva decides to go forward with the lung transplant and she waits for about a year for her pager to signal that she has donor. The surgery goes very well, but afterwards her body has an incredibly difficult time adjusting to her new lungs. It was very hard to watch such a young person suffering and writhing in excruciating pain. The doctors were doing everything they could, but it just seemed as though it wouldn't be enough to save her because she was having an even harder time breathing. Eva fought hard and was fortunately able to recover from the transplant and live a healthy life for two years. In those two years she joined a rowing team, graduated college, traveled, and fell in love before her lungs entered a state of chronic rejection. Eva deteriorated quickly after she arrived to the hospital, but she continued to post on her blog how grateful she was for her lung transplant (65_RedRoses, 2009). Thirty minutes before Eva’s death, she posted a video on her blog saying, "I think I'm very lucky, because I've loved more than you could possibly think, could possibly imagine. So I'm celebrating that: celebrating my life" (65_RedRoses, 65:13). Eva’s documentary touched my heart and reminded me how imperative it is to find cures for all incurable diseases, such as, cancer and CF. I think one of the hardest parts of living with CF would be knowing how quickly your life can be taken away from you and there is no cure to save you. Eva’s death happened so quickly, but her lung transplant gave her the opportunity to experience life in a way that would not have been impossible if she had not received a lung transplant. It is in my hopes that CF patients will be able to undergo gene therapy in the future to cure their defective CFTR gene so they may live longer, more fulfilling lives.

Eva Markvoort's last video before her death on March 27, 2010
http://www.youtube.com/watch?v=GjinOU7LR0k

http://65redroses.com/ 

Mukerji, N. (Director). (2009).65_RedRoses [Documentary]. British Columbia: Virgil Films. 

Gene therapy gives hope

Review on the future of CF gene therapy

Professors of gene therapy, Uta Griesenbach and Eric Alton, discuss the future of CF gene therapy and briefly review fundamental therapeutic findings since the cloning of the CFTR gene two decades ago (Griesenbach & Alton, 2013). Gene therapy has the ability to correct defective genes through injecting viruses to deliver non-mutated copies of genes to the patient’s cells. Scientists believe gene therapy has the potential to cure genetic diseases in the future, thus making it an appropriate treatment for CF patients. In 2009, Griesenbach and Alton recognized that no one vector is suitable for all applications since target cells are disease-specific. Instead, the gene transfer agent (GTA) must be carefully matched to a specific target cell. In their paper, they claim that lentiviral vectors, which can insert their genomes in random locations on a patient’s chromosome, are one of the most promising developments in CF gene therapy. Research has shown that the lung is challenging to target, but the development of lentiviral vectors has been clinically proven to successfully transduce lung tissue. However, lentiviruses have the potential to impede cellular function and act as a carcinogen (Griesenbach & Alton, 2013). Therefore, it is essential for future studies to assess the safety of lentiviral vectors and continue to investigate more efficient ways to transport non-mutated genes into cells. Since CF therapeutic research is increasing rapidly, it is in my opinion that CF patients will live healthier and longer lives. 

Professor Brandon Wainwright from the CF Trust Scientific Advisory briefly discusses the mechanisms of gene therapy and how research indicates that gene therapy can create a larger extension and quality of life for CF patients. http://www.youtube.com/watch?v=ztCnd-mSsG0


Works Cited

Griesenbach, U., & Alton, E. W. (2013). Moving forward: cystic fibrosis gene therapy. Human molecular genetics, 22(R1), R52-R58. 

Am I at risk? What can I do?

Who is at risk for CF?

Cystic Fibrosis is a genetic disease that is passed on from the genes of both parents to the offspring (What Is Cystic Fibrosis? What Causes Cystic Fibrosis, 2009). In order to have CF, a child must inherit one copy of the defective CF gene from each parent. Each time a couple is both carriers of the CF gene, there is a 50% chance that their child will not have CF, but will be a carrier of the CF gene. There is both a 25% chance of the child acquiring the CF gene or the child not being a carrier or having CF gene, as can be seen in figure 3.

Figure 3. A Punnets square can be used as a visual representation to an expecting couple on the probability of their child contracting or carrying the defective CF gene. (www.cff.org)

There is very little an individual can do to prevent this disease since CF is a hereditary disease that is commonly diagnosed at birth. However, couples can undergo genetic carrier testing in which a blood sample is taken to detect CF carriers. It is a good idea for couples to take this blood test because more than 10 million Americans are asymptomatic carriers of CF and unknowingly pass this defective gene onto their offspring. CF is most prevalent among Caucasians, especially those of Mediterranean descent (What Is Cystic Fibrosis? What Causes Cystic Fibrosis, 2009). In the 1990’s, scientists collected genetic samples from 15 different European countries in order to trace the molecular origin and evolution of CF (Angier, 1994). They found that the mutation responsible for CF appeared midway through the Stone Age in Europe, which helped epidemiologists to understand the prevalence of CF among those of European descent (Angier, 1994). 

But there is hope!

There is unfortunately no cure for CF, but treatments have greatly increased in efficacy over the past several years as scientists have gained more resources and knowledge about this disease. CF patients can improve their quality of life through strengthening exercises, proper nutrition, and aggressive antibiotics that prevent the development of infections (Alton et al., 2013). Since antibiotics are taken daily, it is possible for the infection-causing bacteria to become resistant to some drugs, so the dosage and length of time must be strictly monitored by a doctor. Many drugs, such as, anti-inflammatories and mucus thinners, also work to keep the patient’s airways free of thick mucus so they can breathe easier. People with CF usually do airway clearance techniques (ACT) to get rid of the layers of mucus that cover their lungs. Most ACT’s are designed as vibrating vests that loosen the mucus in the lungs so it can be coughed out, thus clearing the airways. If a patient’s lung function is extremely low, a doctor may recommend a lung transplant. However, a lung transplant is not always effective because a patient may not survive long enough to receive a donor’s lungs or their body might reject their new lungs after surgery. Gene therapies, in which a mutated CFTR gene can be replaced by a healthy CFTR gene, are being vigorously studied by scientists and show great therapeutic potential. I believe there must be multiple successful clinical trials before gene therapy can be a universal treatment for CF because it has had some adverse effects on patients. However, it is in my opinion that gene therapy is the future of CF since it has the ability to cure defected cells. CF treatment has increased significantly in the past few decades and I believe these techniques do a good job in keeping CF patients relatively healthy (Alton et al., 2013). In the 1950’s, many children with CF passed away before attending elementary school, but today the average person living with CF can live into their 40’s because there are more healthcare professionals that specialize in CF treatment and 115 care centers that provide expert care and resources (“History of cystic fibrosis,” n.d.). I am confident with the help of modern technology and dedicated doctors, that patients with CF will live long lives and die of old age rather than infections from having CF. 

Figure 4. This vest is an airway clearance technique (ACT) that vibrates to loosen up mucus so it can be cleared out of the lungs. (http://www.hill-rom.co.uk/uk/United-Kingdom/Products/Airway-Clearance/The-Vest/)

Works Cited 

ALTON, E. W. F. W., DAVIES, J. C., GRIESENBACH, U., HYDE, S., GILL, D., DAVIES, L., ... & INNES, A. (2013). WIPO Patent No. 2013061091. Geneva, Switzerland: World Intellectual Property Organization. 

Angier, N. (1994, June 1). Cause of cystic fibrosis is traced to the stone age. The New York Times.

History of cystic fibrosis. (n.d.). - Cystic Fibrosis Trust. Retrieved January 19, 2014, from https://www.cysticfibrosis.org.uk/about-cf/what-is-cystic-fibrosis/history-of-cf.aspx

What Is Cystic Fibrosis? What Causes Cystic Fibrosis. (2009, April 28). Medical News Today. Retrieved January 20, 2014, from http://www.medicalnewstoday.com/articles/147960.php

A glimpse into CF

So, what exactly is Cystic Fibrosis?

Cystic Fibrosis, commonly referred to as CF, is a hereditary disease that attacks the lungs and digestive system (“What Is Cystic Fibrosis,” n.d.). The protein product of a defective gene creates a high intracellular level of salt, leaving too little extracellular nutrients which are needed to prevent sticky mucus from coating the lungs. These thick, sticky mucus layers make it extremely difficult for CF patients to clear out their lungs and they often feel as though their mucus is suffocating them. Since CF is a chronic disease, meaning it is constantly reoccurring, it leads to serious infections and eventually a state termed multisystem failure because multiple organs lose their ability to function (“What Is Cystic Fibrosis,” n.d.).

Figure 1. This diagram shows the cross section of a normal and CF airway, revealing how mucus obstructing the airway leads to detrimental effects, such as, infections and lung damage. Visual from pathologyproject.wordpress.com

There are cases of CF dating as far back as the Stone Age and descriptions in children’s almanacs warning that 'the child will soon die whose forehead tastes salty when kissed’ (“History of cystic fibrosis,”n.d.). For a long period of time, there was very little information known about CF and it wasn’t until 1953 when Paul di Sant'Agnese was able to provide concrete evidence proving people with CF have an increased salt content in their sweat. In the 1960’s CF organizations, including the Cystic Fibrosis Trust, was established to raise funds for research in finding a cause and cure for CF. Researchers identified chromosome 7 as the gene causing cystic fibrosis in 1985 due to medical technological advances and generous donations. Soon after this discovery, Professor Lap-Chi Tsui, Dr Francis Collins and Professor Jack Riordan were able to pinpoint the specific faulty gene responsible for cystic fibrosis (“History of cystic fibrosis,”n.d.).

In 1985, the cause of CF was identified as a mutation in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR) (http://ghr.nlm.nih.gov/gene/CFTR). The CFTR gene functions as a channel across the membrane of cells and produces sweat, mucus, and other digestive enzymes. The flow of chloride ions in and out of cells helps control the movement of water in tissues, which is important in the production of thin mucus. When mutations occur in the CFTR gene, it obstructs the chloride channel by preventing the flow of chloride ions and water in and out of cells. As a result, cells that line essential organs, such as, the lungs and pancreas, are covered by think layers of mucus (http://ghr.nlm.nih.gov/gene/CFTR).

Figure 2. This is an x-ray of a child's lungs with CF. The thick white accumulations on the lungs reveal how excess mucus hinders an individual's lungs from functioning properly.(http://www.columbialungtransplant.org/news_cf_2007.html) 

CF Statistics

(www.cff.org)

v  CF affects about 30,000 children and adults in the United States and 70,000 worldwide

v  About 1,000 new cases of CF are diagnosed yearly

v  More than 70% of patients are diagnosed by age two

v  1 in every 31 Americans is a carrier of at least one copy of the CF gene

v  The median age of survival for individuals with CF is in their early 40’s

People with CF can display a variety of symptoms depending by the type of gene mutation an individual has because there is an assortment of 1,400 mutations (“What Is Cystic Fibrosis? What Causes Cystic Fibrosis,” 2009). Common symptoms among CF patients include: salty tasting skin, wheezing or shortness of breath, poor growth despite good appetite, persistent coughing, and chronic lung infections, such as, bronchitis. In addition, CF is also associated with other conditions like diabetes and infertility.

There are several ways a doctor can test for CF. Most diagnostic tests are performed on infants so doctors can begin early treatment to increase their growth, lung health, and life span. All states in the United States screen newborns for CF, and additional tests, such as, a sweat test, are performed to confirm CF if a child is suspected of having the defective CFTR gene. A sweat test is one of the best ways to diagnose CF and it is relatively simple to do. Small electrodes placed on the skin stimulate sweat glands to produce sweat and high levels of chloride in the sweat are indicative of CF. Doctors can also take a blood or cheek cell sample to analyze for an array of genetic mutations, including CF (“What Is Cystic Fibrosis? What Causes Cystic Fibrosis,” 2009).

Works Cited

History of cystic fibrosis. (n.d.). - Cystic Fibrosis Trust. Retrieved January 19, 2014, from https://www.cysticfibrosis.org.uk/about-cf/what-is-cystic-fibrosis/history-of-cf.aspx

What Is Cystic Fibrosis? What Causes Cystic Fibrosis. (2009, April 28). Medical News Today. Retrieved January 20, 2014, from http://www.medicalnewstoday.com/articles/147960.php

www.cff.org 

http://ghr.nlm.nih.gov/gene/CFTR