Today April 27th is Spinning for Dan, a lot of you may not know what this event is but if you’re interested please read on.
Spinning for Dan is set up to raise awareness towards CF. Now you are asking where does the spinning part come in, my friends Devin and Elise have set up an event in front of Lululemon at the Athletica Southcenter in Calgary, Alberta where Devin will be riding his stationary bike from open to close. We are asking if you could help support Devin by placing a donation today! If you or your company can donate anything to help the cause that would be greatly appreciated. There will be a tax receipt given out for those who require one. As well, WestJet has graciously donated two round trips tickets to anywhere WestJet flies that will be raffled and drawn for at the end of the day.
What is Cystic Fibrosis?
Also known as CF. It disrupts the normal function of epithelial cells — cells that make up the sweat glands in the skin and that also line passageways inside the lungs, liver, pancreas, and digestive and reproductive systems.
The inherited CF gene directs the body’s epithelial cells to produce a defective form of a protein called CFTR (or cystic fibrosis transmembrane conductance regulator) found in cells that line the lungs, digestive tract, sweat glands, and genitourinary system. When the CFTR protein is defective, epithelial cells can’t regulate the way chloride (part of the salt called sodium chloride) passes across cell membranes. This disrupts the essential balance of salt and water needed to maintain a normal thin coating of fluid and mucus inside the lungs, pancreas, and passageways in other organs. The mucus becomes thick, sticky, and hard to move.
Normally, mucus in the lungs traps germs, which are then cleared out of the lungs. But in CF, the thick, sticky mucus and the germs it has trapped remain in the lungs, which become infected.
In the pancreas, thick mucus blocks the channels that would normally carry important enzymes to the intestines to digest foods. When this happens, the body can’t process or absorb nutrients properly, especially fats. Kids with CF have problems gaining weight, even with a normal diet and a good appetite.
Humans have 23 pairs of chromosomes made of the inherited genetic chemical deoxyribonucleic acid (DNA). The CF gene is found on chromosome number 7. It takes two copies of a CF gene — one inherited from each parent — for a child to show symptoms of CF. People born with only one CF gene (inherited from only one parent) and one normal gene are CF carriers. CF carriers do not show CF symptoms themselves but can pass the CF gene to their children. Scientists estimate that about 12 million Americans are currently CF carriers. If two CF carriers have a child, there is a 1 in 4 chance that the child will have CF.
Almost 1,400 different mutations of the CF gene can lead to cystic fibrosis (some mutations cause milder symptoms than others). About 70% of people with CF have the disease because they inherited the mutant gene Delta F508 from both of their parents. This can be detected by genetic testing, which can be done in kids both before and after birth and in adults thinking about starting or enlarging their families.
Of all ethnic groups, Caucasians have the highest inherited risk for CF, and Asian Americans have the lowest. 1 of every 3,600 Caucasian children is born with CF. This compares with 1 of every 17,000 African Americans and only 1 of every 90,000 Asian Americans. Although the chances of inherited risk may vary, CF has been described in every geographic area of the world among every ethnic population.
Scientists don’t know exactly why the CF gene evolved in humans, but they have some evidence to show that it helped to protect earlier generations from the bacteria that cause cholera, a severe intestinal infection.
The diagnosis of CF is being made earlier and earlier, usually in infancy. However, about 15% of those with CF are diagnosed later in life (even adulthood). Symptoms involve the lungs and digestive organs and vary in severity.
A few kids with CF begin having symptoms at birth. Some are born with a condition called meconium ileus. Although all newborns have meconium — the thick, dark, putty-like substance that usually passes from the rectum in the first few days of life — in CF, the meconium can be too thick and sticky to pass and can completely block the intestines.
More commonly, though, babies born with CF don’t gain weight as expected. They fail to thrive in spite of a normal diet and a good appetite. Mucus blocks the passageways of the pancreas and prevents pancreatic digestive juices from entering the intestines. Without these digestive juices, the intestines can’t absorb fats and proteins completely, so nutrients pass out of the body unused rather than helping the body grow. Poor fat absorption makes the stools appear oily and bulky and increases the child’s risk for deficiencies of the fat-soluble vitamins (vitamins A, D, E, and K). Unabsorbed fats may also cause excessive intestinal gas, an abnormally swollen belly, and abdominal pain or discomfort.
Because CF also affects epithelial cells in the skin’s sweat glands, people with CF may have a salty “frosting” on their skin or taste “salty”. They also may lose abnormally large amounts of body salt when they sweat on hot days.
Cystic fibrosis is the most common cause of pancreatic insufficiency, but a condition called Shwachman-Diamond Syndrome (SDS) is the second most common cause. SDS is a genetic condition that causes a reduced ability to digest food because digestive enzymes don’t work properly. Some of the symptoms of SDS are similar to those of CF so it may be confused with cystic fibrosis. However, in kids with SDS, the sweat test is normal.
Because CF produces thick mucus within the respiratory tract, kids with CF may suffer from nasal congestion, sinus problems, wheezing, and asthma-like symptoms. As CF symptoms progress, they can develop a chronic cough that produces globs of thick, heavy, discolored mucus. They also may suffer from repeated lung infections.
As chronic infections reduce lung function, the ability to breathe often decreases. A person with CF may eventually begin to feel short of breath, even when resting. Despite aggressive medical therapy, lung disease develops in nearly all patients with CF and is a common cause of disability and shortened life span.
By performing genetic tests during pregnancy, parents can now learn whether their unborn children may have CF. But even when genetic tests confirm CF, there’s still no way to predict beforehand whether a specific child’s CF symptoms will be severe or mild. Genetic testing also can be done on a child after birth and can be performed on parents, siblings, and other relatives who are considering having a family.
After birth, the standard diagnostic test for CF is called the sweat test — an accurate, safe, and painless way to diagnose CF. In the sweat test, a small electric current is used to carry the chemical pilocarpine into the skin of the forearm. This stimulates sweat glands in the area to produce sweat. Over a period of 30 to 60 minutes, sweat is collected on filter paper or gauze and tested for chloride.
To diagnose CF, two sweat tests are generally performed in a lab accredited by the Cystic Fibrosis Foundation. A child must have a sweat chloride result of greater than 60 on two separate sweat tests to make the diagnosis of CF. Sweat test normal values for infants are lower.
Several other tests are standard parts of the routine care used to monitor a child’s CF:
Blood tests to evaluate nutritional status
Bacterial studies that confirm the growth of Pseudomonas aeruginosa, Staphylococcus aureus, or Haemophilous influenza bacteria in the lungs (these bacteria are common in CF but may not affect healthy people exposed to CF)
Pulmonary function tests (PFTs) to measure the effects of CF on breathing (PFTs are done as soon as the child is old enough to be able to cooperate in the testing procedure; infant PFTs are currently being studied)
When kids are first diagnosed with CF, they may or may not have to spend some time in the hospital, depending on their condition. If they do, they’ll have diagnostic tests, especially baseline measurements of their breathing (lung function) and a nutritional assessment.
Before they leave, their doctors will make sure that their lungs are clear and that they’ve started a diet with digestive enzymes and vitamins that will help them to gain weight normally. Afterward, they’ll probably see their doctor for follow-up visits at least once every 1 to 3 months.
The basic daily care program varies from person to person, but usually includes pulmonary therapy (treatments to maintain lung function) and nutritional therapy (a high-calorie, high-fat diet with vitamin supplements). People with CF can also take oral doses of pancreatic enzymes to help them digest food better. They may occasionally need oral or inhaled antibiotics to treat lung infections and mucolytic medication (a mucus-thinning drug) to keep mucus fluid and flowing.
A new treatment for CF, which is still being researched, is an inhaled spray containing normal copies of the CF gene. These normal genes deliver the correct copy of the CF gene into the lungs of CF patients. Since 1993, more than 100 CF patients have been treated with CF gene therapy, and test trials are underway in at least nine different U.S. medical centers and other centers around the world. Another new therapy, called protein repair therapy, aims at repairing the defective CFTR protein. Numerous medications, including a spice called curcumin, are also being tested.
Caring for a someone with CF can be tough at times, but parents need not feel alone. Doctors can usually refer them to a local support group linked to the Cystic Fibrosis Foundation.
CF definitely affects the lives of people who live with the disease but it also affects others around them such as family. I was born as a twin, Amy wasn’t born with CF. My family was the typical 1 in 4 for a child to have CF. Both my parents carried the CF gene leading to myself having CF. As I said Amy is my twin but wasn’t born with CF, however, she still had to live growing up watching her twin brother live through this disease.
Here is a little view of my sister Amy and I as we were younger.
That’s how you help train a small child into maneuvering their tongue and lips to form the difficult sound of Cystic Fibrosis. You know that I know that, so why do doctors pick such difficult names for diseases that affect children who can’t even say spaghetti or napkin correctly?
Dan, it’s taken me a long time to decide what story I wanted to share with you. How do you summarize a life shared? Really, my life would not be the same without you. You have given me the confidence to wear a large range of hats. We started our lives together in the safety of amniotic fluid. Quickly I evolved into personal translator when even Mom didn’t realize that opicl was Popsicle. As we grew older I changed my hats to meet our needs from homework provider to your very own donkey. I am sure the list could go on but that is not the point of this story, nah this story is about you and what hats you have worn for me.
On April 2nd, we both came screaming into this world, you came first and I followed shortly. The minutes in between really do not matter. What is important is that you came first, and thus empowering you with bragging rights for the rest of our lives. The significance of these few minutes apart officially established you as my older bro. This also decided you would have to accept the responsibility of protecting me. In one moment, in one doctor’s act, you became responsible for me by the universal act of big brotherhood.
Now, every little sister knows big brother is code for personal tormentor. It means you have someone to punch you, to make you cry and place blame on. It also means you have someone constantly watching over you, protecting you when you don’t even know it. Mom never had to worry about chastity belts or bullies in high school… we had you.
I remember one moment during high school that made me realize how far your ever protecting shadow went. We were sitting in the front row of our grade 9 science class. I was clearly paying attention to Dr. Churkas when you nudged my arm. Slightly annoyed, I turned and noticed you were pointing to a section of our science textbook that read CYSTIC FIBROSIS. I’m not sure if you found it by accident or you went looking for it but there in our crisp new textbook was information on Cystic Fibrosis. It was the first time I had ever read about CF. Wikipedia was floating around in someone’s mind waiting to come to fruition and the thought of finding a book about CF had never occurred to me. Seeing the text on paper made CF real. At the end of the short summary, a single sentence stated, the average lifespan for children with CF was 16. You and I were just 14.
I often think of this moment.
It’s the day that I started to really understand. It was also the day that I realized how much you deal with. That somewhere under your big brother armor you carried the weight and not just on your shoulders but your heart too. You never complained. You never said why me. You never showed fear. No, instead, you made the choice to always be my big brother first. To protect me from all the scary things that life had to throw at us and you shouldered it, including your own reality. You could have played the pity card to get the front seat of the car, but instead, you always played the big brother.
There is one other story that I felt the need to share. This one takes place about three years ago after your 2nd transplant. I had come to visit you in the ICU and was reading you some of the messages from the “DAN IS MY HERO” Facebook page. While reading, I could see your chest moving up and down, hear the rhythm of your new lungs working so hard to take in air. Slowly you would drift off to sleep, your breathing slowing, slowing, and slowing until… it stopped. An alarm would sound; I remember waiting, waiting to see your chest rise, for the moment your brain said breathe again but nothing happened. I guess any other person would have grabbed the doctor and freaked out but I’m your little sister and like a well-trained sister I simply just yelled at you. “ DAN BREATHE!!” It was like my words were an electrical shock because you sat up in bed, blue eyes wide open, and your lungs back into action and a hand gesture that stated ‘keep reading, I’m fine”. This process went on for a large portion of the day. You would drift off and I would remind you to breathe. The funny things were, even though you were having a hard time, you still would have me read on. Faced with a huge problem or difficult situation you always seem to remain calm and level headed. Yeah, I may have had to remind you to just breathe but that is a day in the ordinary life of us.
I would not be the person I am today without you. You helped mood the caring person I am by shouldering a truth that I was just not ready for yet. You made me realize that I am worth something by fighting off boys who just were not good enough. But most of all you taught me how to be brave, stay focused and keep calm when the going gets tough.
Thanks, big brother, without you, I would not be complete.
Your other half.
Those of you who can’t make it to the event today or live outside of Calgary, you can place a Donation Here!
Let’s make CF mean Cure Found!