Effect of my Diagnosis--Mom.

I asked my mother for her take on my diagnosis because the diagnosis of Cystic Fibrosis can affect family and friends, as well. It turns out she had written out her story in September, 2000, when I was about seven years old. I was then allowed to read this perspective. Even at that point, the diagnosis was pretty recent. She recalls the phone call.

“Mrs. Wilson?”

“Yes?”

“We have the test results for Ariel.”

“Yes?”

“They are positive, Mrs. Wilson.”

I sink to the floor, nearly dropping the phone. “Mrs. Wilson?” an anxious voice asks.

“Yes,” I manage to choke out.

“I'm sorry. Do you want me to put you in touch with the local clinic?”

“Yes. Please,” I reply, slightly stunned.

“We'll notify Ariel's doctor, you'll probably hear from them soon,” the voice continues.

“Thank you,” is all I can squeak out as the tears start falling.

The initial shock could knock a person out for a while. My mother didn’t have a lot of information at that point, only that her daughter had it and that it was going to be a big deal in our lives. Her research gave her everything. That’s pretty overwhelming for a mother to handle. She struggled with the diagnosis along with me for a while. She writes:

I was hard, at first, to talk about it. People wanted to know about it, but they were hesitant to ask, or were afraid they would ask the 'wrong' question. For a while, emotions were a bit raw, but it was easier to talk about it than to keep it to ourselves. When people understood that they were not going to offend me in some way by asking questions, others are more open to talk about Ariel's situation. Although Ariel isn't interested in telling other kids her own age about CF, she 'puts up with' me talking with other adults about it. I have always shown Ariel the respect of asking if it's ok before I talk to others about things. At first, she didn't want anything said, so that made it hard for me. There were even times she became quite upset with me for talking about her situation when she was around, even with family. I'm grateful to those who were understanding if I cut myself off due to Ariel's request, or her obvious displeasure. But time changes everything. CF has become part of our lives now, so it's not so hard to get that permission.

I’d been diagnosed for about a year and some change at the time this was written. My mother shares this experience from looking back at the situation with new knowledge and with hope for the future. One can only imagine how hard it would be in the moment to see hope for the future. We all hurt in some way over the information, my mother most of all. She made sacrifices and did her best to make sure I handled it well also.

This is my beautiful family who puts up with all those things I deal with, too.

For those of you struggling with how to handle such a diagnosis, for yourself or a loved one, you can read an article my family and I got to help write for The Family Magazine of Michiana. This is the link:

http://www.michianafamilymagazine.com/The-Family-Magazine-of-Michiana/September-2010/Have-Questions-about-Coping-with-Illness/ 

There is always someone who understands out there. It’s not easy to handle the diagnosis, but nobody is ever stranded with such knowledge.

Keep Hope,

Cystic Sister @----

Eva and her 65 Red Roses

Tonight I stumbled upon the story of a girl with Cystic Fibrosis. She had a live journal, which seems pretty much like a blog, which she called 65 Red Roses. She told her story of her life with CF, sharing her thoughts and her excitements and her fears. She got a double lung transplant. She spent months in the hospital at a time. She watched a few of her friends pass away, ones that she’d made through the Cystic Fibrosis community. She’d made friends in the hospital and watched them walk out with hope or never leave again.

Her name was Eva Markvoort. She was a Canadian woman in her 20s who shared her far scarier tale of Cystic Fibrosis than I ever could. She passed away a few years ago due to complications in her system, even despite her new lungs.

I normally would try to tell the story, to convey the messages myself, but her story can only be told from her point of view.

http://65redroses.livejournal.com/ 

* To read her story rather than what has since been posted on her journal, click “Archive” and go back to the beginning or search her posts by title by clicking "View Subjects" to look for what you find interesting or helpful. I began at her decision that she was ready to get a double lung transplant, found at http://65redroses.livejournal.com/9048.html. I cannot even describe how much respect I have for this girl. She tells the story of someone on the opposite end of the spectrum from myself and I am extremely humbled.*

This story alone can do wonders for anyone, to see someone deal with a hard life so well. I normally wouldn't post twice in one day, but this was important to me.

Keep Hope,

Cystic Sister @----

The Cystic Fibrosis Foundation

The Cystic Fibrosis Foundation is the major force behind the attempts to find a cure for Cystic Fibrosis as well as improve the lives of those affected by the disease. Not only have they funded more CF research than any other organization, but they also have spread hope. On their website (www.cff.org) they state that they are:

• Research pioneers
• Fund-raisers
• Advocates
• Stewards
• Caregivers
• Helping hands, offering support, information, and resources.

The Cystic Fibrosis Foundation was founded in 1955 in Philadelphia, PA. Since its establishment by a group of volunteers, they have set up 115 centers for the treatment of patients and have over 80 chapters and offices in the United States. Scientists working for the CFF discovered the CFTR gene and are constantly trying to find new treatments and develop new drugs. To date, the CFF has been the major contributor in the development and FDA approval of four therapies and is currently supporting about 30 research projects developing new treatments.

Outside of just the scientific research, the Cystic Fibrosis Foundation raises funds to support the research to treat and hopefully cure the disease, brings patients and their families to specialized care for their help, and makes sure to keep Cystic Fibrosis a priority in the government and research. Their driving force is a huge reason research for this disease has come so far since 1955. Their goals for the future are much greater.

They are a nonprofit, donor-supported organization. Most of their work must be done by volunteers. If you desire to volunteer in the fight for better lives of Cystic Fibrosis patients, you can visit their website and find a way to volunteer in a way that best matches your lifestyle. (www.cff.org/GetInvolved/Volunteer/) If you don’t have the time to dedicate to an activity but still want to help out, you can make a donation (www.cff.org/GetInvolved/ManyWaysToGive/MakeADonation/) or help raise awareness like I am (ideas for doing so are found at www.cff.org/GetInvolved/CFAwareness/). Everything that can be done is appreciated greatly.

The Cystic Fibrosis Foundation's big fundraising event each year is called Great Strides: Taking Steps to Cure Cystic Fibrosis. This walk-a-thon has over the years raised over $214 million, with almost $38 million raised last year. This event occurs across the United States with several areas of participation in each state. To register for future Great Strides events, you can go to http://www.cff.org/great_strides/ and register for your state. You can also support walkers and teams with donations at that site.

Remember that the Cystic Fibrosis Foundation uses these proceeds and volunteers to help find a cure for Cystic Fibrosis. One day, CF will stand for Cure Found because of this wonderful organization.

Keep Hope,

Cystic Sister @---

Treatments

I touched on treatments and their development in my timeline post, but I do want to show you the current treatments used for Cystic Fibrosis, specifically in my case.

Now, I do have a very mild case, so I don’t have to take enzymes or alter my diet too badly, but I do want to walk you through each of the ways I take care of myself.

My favorite is summertime. Now, for people with Cystic Fibrosis, the heat can mean extra sweating, extra dehydration, and fatigue. I’ll admit, as it gets hotter outside I tend to struggle more, especially since my apartment here at college doesn’t have air conditioning. So I treat it by consuming more salt in my diet to compensate from the salt I’m losing. My doctors (both my Cystic Fibrosis clinic doctor and my family doctor) and my dietician suggest finding ways to get calories and salt at the same time, so that I can maintain my weight now that I’ll be more active outside. My favorite way to do that is by eating potato chips. It’s not the “healthiest” way to do it, I know, but I frequently consume potato chips in large quantities during the summer to keep my calorie and sodium intake high. I also like to eat salt. It’s a natural craving for those with Cystic Fibrosis, really…and not at all weird…but I really do. My aunt bought me Himalayan salt crystals and I suck on them and chew them when I’m craving something salty and don’t feel like totally clogging my arteries.

I also keep on hand water. Well, I prefer juice because water is boring and from the tap isn’t as good, but the concept is the same. I have to stay as hydrated as I can in both the summer and winter (the summer is much more significant, but I do need it in the winter as well). At any given time, there is at least one and sometimes up for three water bottles beside my bed for easy access and a constant reminder to consume water and keep my body running as smoothly as I can.

My diet only really consists of those changes, but I do have treatments I get to use. Along with occasional antibiotics for sickness, I also use a nebulizer for breathing treatments. I use Xopenex for more maintenance and Albuterol for treatment when I’m feeling under the weather. If I happen to let myself get too far, I do have Pulmozyne to use on rare occasions. These medications are pretty typical for asthmatics to use—like I said, my case is rather mild—but do the job they need to.

I also have the ABI Vest Treatment. This is literally a vest (not a very fashionable one, unfortunately…I mean, buckles are so last century) that hooks up to tubes. These tubes are attached to a ridiculously large and heavy machine which inflates the vest, squeezing it tight around m, and vibrates. This is to loosen up the mucus in my lungs so it doesn’t attach to my airways. The ultimate goal is that I will begin to cough and force the mucus in my lungs up and out to alleviate some of the effects of blockages, etc.

Like I said, my case is very mild. My routine is small and I am so grateful that I am able to get by without some of the stronger treatments needed by other patients. Most patients deal with any or all of the following:

• Antibiotics for lung and sinus infections, taken by mouth, IV, or nebulizer treatments
• Inhaled medications in breathing treatments
• DNAse enzyme therapy
• High concentrated salt solutions
• Diet high in protein and calories
• Vitamin supplements
• Pancreatic enzymes taken by mouth to aid in digestion
• Breathing treatments for maintenance
• Percussion vests
• Manual chest percussion
• The A-capella
• Eventual lung transplants

Treatments are constantly becoming more effective and more accessible as time progresses. Eventual treatment through gene therapy or other “cures” are being developed. Many people are hoping to change the entire meaning of CF—from Cystic Fibrosis to Cure Found. With the treatments that we have and developing therapies to come, lives are made a little easier and more tolerable.

Keep Hope,

Cystic Sister @----

History of Cystic Fibrosis—How Did We Get so Far?

Knowledge about Cystic Fibrosis had to start somewhere. Here is a brief history of how we got to where we are.
·        1700’s- Cystic Fibrosis was still hundreds of years from being discovered and figured out, but a vague awareness of the disease was present. Though they didn’t understand why, the German staying, “A child whose forehead tastes like salt when kissed with soon die,” wasn’t too far off base. The taste of salt on the child’s skin was caused by the extra salty sweat.
·        1930s- The first official record of Cystic Fibrosis was begun by a Swiss pediatrician, Dr. Fanconi. He referred to the disease by calling it “celiac syndrome,” believing that the disease was a disorder in the pancreas. Though he was partly right, his findings were only a jumpstart to the rest of the discoveries. For example, later in the 1930’s, Dr. Dorothy Andersen named the disease Cystic Fibrosis, diagnosing it as a deficiency of Vitamin A. Have we seen the symptoms start to fall into place? First awareness of salty sweat, then concerns with the pancreas and absorption of Vitamin A in the digestive system. We are missing the big picture though.
·        1940’s- Dr. Sidney Farber and Dr. Harry Shwachman (who, in my opinion, has the coolest name ever) figured out the unusual mucus situation. Their connection to this abnormality brought together the big picture of Cystic Fibrosis—extra thick mucus causes complications in certain organs of the body.
·        1950’s- A heat wave in New York caused lots of sweat—and in those with Cystic Fibrosis, a lot of lost salt. The development of the sweat test of diagnosis (a test in which salt content of sweat is tested; high levels are a strong indication of being affected by the disease) by Dr. Paul di Sant’Agnese came about, giving doctors a way to diagnose the illness.
·        1955- Finally a foundation for effective treatment of Cystic Fibrosis is developed: early diagnosis, early treatment, and proper nutrition. Though these seem like the obvious steps for any health concern, this plan was the starting point for modern treatments of the disease. At the same time, one of the theories for proper nutrition, from Dr. Archie Norman, came out: a high fat diet for patients with the disease.
·        1970- The Cystic Fibrosis Foundation started the use of patient registry.
·        1989- The Cystic Fibrosis Transmembrane Conductance Regulator gene is discovered! Now we know what CF is, how it passed on, and exactly what causes the symptoms and complications of the disease on a molecular level.
·        1990’s- Many advancements have been made in treatment. One such specific example is the FDA approval of the first drug targeted directly at Cystic Fibrosis. This drug, Pulmozyne, was the first, but many different medications and treatments have come about since.
·        To come- Efforts are being put forth to find a way to cure CF for good. In 2009, a virus was turned into a very infectious form and used as a carrier for gene therapy. The first gene therapy test completely cured Cystic Fibrosis affected human lung tissue in culture. About a year ago (May 2011), for example, an 11^th grader in Canada  used a super computer to find what could be developed into a “cure” for CF; this cure would be a combination of medications to combat the function of cells to work the same way a healthy person’s would. This year, financial support has been given to researchers in the UK who have developed a form of therapy that would use liposomes to transfer CFTR into cells. This form of therapy would not change the actual genetic code of patients and would have to be given regularly. The trial being conducted has treatment being administered every month for a year.

These advances and many more to come have changed the outlook for patients significantly. It’s all uphill from here.

Keep Hope,

Cystic Sister @---

Symptoms

Now that we know what’s happening in the cells of a person with Cystic Fibrosis, what does that mean for the things we can see, hear, smell, taste and touch?

The symptoms of Cystic Fibrosis affect several different organ systems in the body: the respiratory, digestive and reproductive systems mainly.

Airways in the lungs are lined with mucus to stop them from becoming dried out, keep them opening and closing properly, and helping prevent infections from developing there. When the cell can’t properly move chlorine ions across the cell membranes, water movement can’t be regulated properly causing this mucus to become thick. Mucus in the airways of a normal person would be like running water through a small tube, thin and slippery. Lungs affected with Cystic Fibrosis might be more like dumping honey or maple syrup through the tube. It will move, but it will move slowly. It can even build up and become blocked, which is a concern in the airways of those with CF. This thick mucus also can lead to repeated lung infections. In a normal person, mucus will catch bacteria and other germs then remove them from the lungs, much like maybe putting a few bread crumbs in the tube. When water, the normal mucus in our visualization, is poured through the tube, the bread crumb germs can come out much faster. However, when honey is poured through that same tube, the bread crumbs can clump together as they slowly move through the tube. When infections have that extra time in the lungs, they are able to grow much more easily and can turn into more serious infections. These repeated infections can damage the lungs permanently, even. To wrap up these symptoms into a small list, those with Cystic Fibrosis would likely experience in the respiratory system:


·         Coughing or increased mucus in the sinuses or lungs
·         Fatigue
·         Nasal congestion
·         Recurrent episodes of pneumonia
·         Sinus pain or pressure
·         Frequent sinus infections
·         Shortness of breath
·         And other respiratory complications.

In the digestive system, the pancreas can become clogged with this extra thick mucus. The pancreas makes digestive enzymes that get sent to your small intestine. These enzymes help break down food so your body can absorb fats, proteins, and other nutrients. Without these nutrients, Cystic Fibrosis patients can develop vitamin deficiencies and malnutrition. Imagine eating without actually taking in a good portion of the nutrients you’ve consumed—it’s rather dangerous and probably very frustrating. This can also cause intestinal discomfort, a swollen belly from constipation, fatty stools, and other frustrations in the digestive system. Again, a quick reference list of digestive system symptoms in Cystic Fibrosis patients:


·         Failure to gain weight normally during childhood
·         Weight loss or generally low weight
·         Delayed growth
·         Belly pain
·         Nausea
·         Loss of appetite
·         Stools that float, are foul smelling, have mucus, or appear a strange pale or clay color
·         Increased gas bloating
·         Swollen belly
·         Less frequent bowel movements

The reproductive system is mainly affected in men. In men, mucus clogs the tubes that carry sperm, causing them to deteriorate before birth; these men are infertile (incapable of having children). In women, the disease can simply make it more difficult to become pregnant because of the thickness of the mucus, as well.

Other symptoms include a higher risk for diabetes, osteoporosis (a condition that causes bone thinning), and salty sweat. When patients with Cystic Fibrosis sweat, they lose more salt. That messes up the balance of minerals in the blood and causes health concerns such as dehydration, increased heart rate, fatigue, weakness, decreased blood pressure, and heat stroke.

Mucus blocks airways as well as enzyme tracks
in the respiratory and digestive systems.

Because of the thickness of the mucus, many systems in the body get “stuck.” This can restrict enzyme transfer, air flow, and even the ability to conceive children. These symptoms, thankfully, are very treatable. Many new medications and treatments are becoming available to help with these symptoms and will continue to bring relief and assistance to more people.

Keep Hope,

Cystic Sister @----

Genetic Make-Up of Cystic Fibrosis

So now that we know how a person can get Cystic Fibrosis, we should explore how Cystic Fibrosis is caused on a cellular level.

Cystic Fibrosis is caused by a mutation of the “Cystic Fibrosis Transmembrane  Conductance Regulator (ATP-binding cassette sub-family C, member 7)”  gene. This gene is located on the long arm of chromosome 7 at position 31.2. To be more specific, the CFTR gene can be found on chromosome 7, from base pairs 117,120,016 to 117,308,718.

My brain exploded, too. Don’t worry; there is no test on the location of the mutation that genetically causes Cystic Fibrosis.

CFTR Channels and Chloride Ions

The Cystic Fibrosis Transmembrane Conductance Regulator (ATP-binding cassette sub-family C, member 7), or simply CFTR gene is where the instructions are held for making a protein called the cystic fibrosis transmembrane conductance regulator. Cells that produce mucus, sweat, saliva, tears, and digestive enzymes (most of the liquid produced in the body) need this protein as a channel transporting chloride ions (negatively charged particles) in and out of cells across this membrane. (“Transmembrane” literally means “across the membrane,” hence the name “cystic fibrosis transmembrane conductance regulator”—cool, right?) When these chloride ions are able to be transported across the membranes properly, they help take charge of the water movement in tissues. When the movement of water in cells is regulated (another connection to the name of the protein!) properly, the body is able to produce thin and freely flowing mucus. (Mucus is snot. Well, it’s more than that, too, but that’s probably where you would recognize it best. Mucus also acts as a slippery protection and lubrication on the linings of the respiratory system, digestive system, reproductive system, and other organs.) This protein is also in charge of other channels across cell membranes, including those that transport positively charged sodium ions, which are important in the proper function of organs such as lungs and pancreas.

“In English,” as my mom would say, the CFTR gene creates the protein that regulates the movement of chloride ions across cell membranes. When this protein is working properly, the chloride ions are able to control water movement in tissues that helps produce normal mucus to help protect linings of several different systems and organs in the body. This protein also regulates the movement of sodium ions across cell membranes, which helps the lungs and pancreas work properly.

From the sounds of things, lots of our guts are protected by the proper functioning of the CFTR gene. So, what happens if a person has Cystic Fibrosis? CF is caused by a mutation in the CFTR gene that is passed down as a recessive trait. When the CFTR gene is mutated, the CFTR protein doesn’t fulfill its job properly. This means the chloride ions aren't going to be moving across the cell membranes the way they are supposed to, leading to complications with the water movement in and out of cells. Mucus then becomes sticky and thick; this mucus then can block airways and glands and cause complications within many of the organs of the body.

It is important to know of Cystic Fibrosis in a patient so certain medications or procedures that are needed can be adapted to work properly in the body. (For example, my doctor prefers that I use expectorants when experiencing sinus congestion rather than decongestants; these adjustments can usually be made fairly easily and doctors know what they are doing.) It also is good to know so doctors can keep track of the specific effects Cystic Fibrosis has on that patient’s body. (For example, some mutations have a much smaller effect on the digestive system while others can go as far as to cause diabetes.)

So, that is what happens on the very insides of a person affected by Cystic Fibrosis. These will cause various symptoms and require certain treatments as well, but that can wait until another time.

Keep Hope

-Cystic Sister @---