Five words that changed our lives forever…
Your son has Cystic Fibrosis.
Our son Gunnar was born on December 7th, 2016. Our Beautiful healthy boy who is our fifth child, and loving addition to our ever-growing family. Yes I know five children, some of you must be saying you guys are nuts. To some extent I would have to agree that’s what makes our family so fun, but in reality we just love kids, and we both wanted a large family. Ok so back to Gunnar right around Christmas we received a phone call from a doctor in Portland, Oregon, and they told us that an initial test came back with highly suspicious numbers for Cystic Fibrosis for Gunnar. For those of you who do not know, when you have a baby, and they give you that envelope in the hospital to take to your doctor to do a screening that is required by law, they are checking for Cystic Fibrosis. None of our other 4 children have Cystic Fibrosis. None of our other children have CF and none of our family, besides a cousins daughter has the disease.
At this point as my wife has this call on speakerphone I hear this, and I began to instantly ball realizing that my son had a very serious disease. The first stupid thing that I did was get on google, please take it from me this is the worst thing that you can do. I started reading scary things like life expectancy of 40 years, lung problems, digestion problems and the list goes on. I was stressing out, and at the same time trying to be a strong husband for my wife. I told my wife he looks great and has no signs of disease, how can this be? My wife is an amazing strong women, and was strong for me during this time and stood by my side, lifting me up, and encouraging me to take it a day at a time. Breathe, just Breathe and trust the Lord in all of this, as he will not give your more than you can bear.
The doctor who is one of the best specialist on the west coast happened to be my sons CF Specialist she called, and arranged his first sweat test, and blood test. We were told that if his sweat test, which is an indicator for CF, that tests the amount of salts in his sweat is below 30, then that is normal, and over 60 is severe. With anxiety, and disbelief we drove our son to Doernbecher’s Children Hospital in Portland, Oregon to have this test done. The nurse hooked up these circular plastic electrodes on my sons arms. I asked what does that do, and I was advised that they stimulate the muscles, and cause the arm to sweat at the point of the electrode. After a few minutes of that, they then attach a watch looking device that captures the sweat. Gunnar also had his blood drawn that day to test for the specific mutations of genes that cause CF. His initial test that got sent off by the doctor in that envelope test showed him at a 43, which is a new intermediate category. I know right you hear your son may have this disease called CF and his numbers indicate a new category. We received the sweat test results later that day from Doernbecher’s, and again they were 43. We asked the doctor that night what does this mean? The doctor said that it means he may be just a carrier, or possibly have Cystic Fibrosis, and that we would have to wait 30 days for the blood test to come back. I said 30 days? She advised us that the blood test looks at 1500 possible mutations, and they locally would look for the first 200 common ones a total of 1700 possibilities.
Gunnar’s results came back that his sweat test was 43 reaffirming this intermediate category. His first blood test showed his initial gene mutation indicated that his CF if he indeed had it was treatable by a drug called Kalydeco that only 3-5% of the CF population can take. We were very thankful to hear this. We had to have Gunnar’s blood drawn a second time, as there was not enough of the sample to send to the outsourced lab to see if there was another mutation. Gunnar’s results on the second mutation came back about 3 weeks later that he did indeed have a second mutation that only 97 registered CF patients have in the world. The good news is that, it is treatable, and his stool test indicates that all of his enzymes are there. That is great news. Gunnar is a newborn so we will not see symptoms right now, but we have been advised that at 2 years old he will start taking Kalydeco for the rest of his life. He may also have to do breathing treatments, and wear a vibrating vest to help break up mucus in his chest. If Gunnar is ever sick with a common cold or cough we will need to treat him right away with antibiotics. We have also learned that we will need to see our specialist once a month for the rest of Gunnar’s life to stay on top of the disease, and his health. I have to say that I am impressed with his doctor as well, because she is the first doctor that has made herself available with her pager and cell phone for us to reach her anytime of the day. As a family we are taking it one day at a time, relying on the Lord for his strength. We are so grateful for the loving friends and family that we have that provide us with support. We have also been priveliged with a local CF support group. I encourage you that if you have CF, know of a family member with CF to read all of the books on CF that you can, goto the cff.org website to educate yourself. I also urge you to be careful of reading just anything on the internet as it there is alot of false information out there.
SO, WHAT IS CYSTIC FIBROSIS?
Cystic fibrosis is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time.
In people with CF, a defective gene causes a thick, buildup of mucus in the lungs, pancreas and other organs. In the lungs, the mucus clogs the airways and traps bacteria leading to infections, extensive lung damage and eventually, respiratory failure. In the pancreas, the mucus prevents the release of digestive enzymes that allow the body to break down food and absorb vital nutrients.
Symptoms of CF
People with CF can have a variety of symptoms, including:
Very salty-tasting skin
Persistent coughing, at times with phlegm
Frequent lung infections including pneumonia or bronchitis
Wheezing or shortness of breath
Poor growth or weight gain in spite of a good appetite
Frequent greasy, bulky stools or difficulty with bowel movements
People with only one copy of the defective CF gene are called carriers, but they do not have the disease. Each time two CF carriers have a child, the chances are:
- 25 percent (1 in 4) the child will have CF
- 50 percent (1 in 2) the child will be a carrier but will not have CF
- 25 percent (1 in 4) the child will not be a carrier and will not have CF
WHAT TO EXPECT POTENTIALLY IN THE FUTURE
People with cystic fibrosis are at greater risk of getting lung infections because thick, sticky mucus builds up in their lungs, allowing germs to thrive and multiply. Lung infections, caused mostly by bacteria, are a serious and chronic problem for many people living with the disease. Minimizing contact with germs is a top concern for people with CF.
The buildup of mucus in the pancreas can also stop the absorption of food and key nutrients, resulting in malnutrition and poor growth. In the liver, the thick mucus can block the bile duct, causing liver disease. In men, CF can affect their ability to have children.
Breakthrough treatments have added years to the lives of people with cystic fibrosis. Today the median predicted survival age is close to 40. This is a dramatic improvement from the 1950s, when a child with CF rarely lived long enough to attend elementary school.
Because of tremendous advancements in research and care, many people with CF are living long enough to realize their dreams of attending college, pursuing careers, getting married and having kids.
While there has been significant progress in treating this disease, there is still no cure and too many lives are cut far too short.
HOW ITS TREATED
People with CF need to work closely with their medical professionals and families to create individualized treatment plans.
The CF Foundation accredits more than 120 care centers that are staffed by dedicated healthcare professionals who provide expert CF care and specialized disease management.
Each day, people with CF complete a combination of the following therapies:
- Airway clearance to help loosen and get rid of the thick mucus that can build up in the lungs. Some airway clearance techniques require help from family members, friends or respiratory therapists. Many people with CF use an inflatable vest that vibrates the chest at a high frequency to help loosen and thin mucus.
- Inhaled medicines to open the airways or thin the mucus. These are liquid medicines that are made into a mist or aerosol and then inhaled through a nebulizer. These medicines include antibiotics to fight lung infections and therapies to help keep the airways clear.
- Pancreatic enzyme supplement capsules to improve the absorption of vital nutrients. These supplements are taken with every meal and most snacks. People with CF also usually take multivitamins.
The CF Foundation supports research to discover and develop new CF treatments and maintains a pipeline of potential therapies that target the disease from every angle.
In 2015, the FDA approved the second drug to treat the root cause of cystic fibrosis, a defective protein known as CFTR. The first drug targeting the basic genetic defect in CF was approved in 2012. The arrival of this group of drugs, called CFTR modulators, signals a historic breakthrough in how CF is treated. It’s expected that CFTR modulators could add decades of life for some people with CF.
Today, the Foundation is focused on developing lifesaving new therapies for larger numbers of people with CF and pursuing daring, new opportunities to one day develop a lifelong cure.
All information and facts about Cystic Fibrosis have been copied and provided by https://www.cff.org The Cystic Fibrosis Foundation Website Accessed February 19, 2017.