Cystic Fibrosis: What Is It?

Cystic fibrosis is a disease that has always been a medical topic of interest to me. Unfortunately, its for the fact that this progressive and fatal disease is in my family's gene pool. I have a cousin, 10 years younger that me, who was diagnosed as an infant with cystic fibrosis. After her diagnosis, her mother left her with my uncle and headed for the hills. To help their brother and niece, my mother and an Aunt took over much of the "momming". I can still remember so many of the classic symptoms she had. The salty taste when you kissed her head, the foul smelling fatty stools, the breathing difficulties and slow growth. She soon took on the nickname "Peanut" because of how small she was. As she grew, treatments increased, regular scheduled hospital stays became norm for "tune-ups", as we all called them, and the daily routine became very complicated and time consuming. Life certainly did not become easier for her.

At 31 years old, Peanut is still alive today thanks to advancements in science, technology and modern medicine. As I got into my childbearing years, Cystic Fibrosis was a constant nagging worry in my mind. Could I have a child with this disease? How about my brothers? It seemed so strange to me (before all my research), the odds that gave my cousin this life long struggle and burden. You see, my mother is one of 12 children. Each of her siblings went on to marry and have 2 to 4 children each and of those numbers only Peanut got the disease. Wow! Not even Peanut's own brother got the disease.

My husband and I decided (along with our OB/GYN, Pediatrician, and Geneticists) to have genetic testing done. Our insurance company asked my husband to be tested first. If he was negative on all accounts for the genetic marker than I would not be tested. We were pleased to hear that he is not a carrier. However, not having been tested myself, I still wonder if I am a carrier and could have passed on the defective gene to any of our 3 children, potentially affecting our future grandchildren.

Let's get into some of the facts of what Cystic Fibrosis (CF) looks like now, in 2017. Some history, genetics, statistics, advancements in care and treatment, and a daily routine for this population.

Cystic Fibrosis Foundation states that "CF is a progressive, genetic disease that causes persistent lung infections and limits the ability to breath over time. The defective gene causes thick buildup of mucus in the lungs, pancreas and other organs." Increased mucus in the lungs clogs airways and creates an environment where bacteria gets trapped easily. This bacteria leads to infection, extensive lung damage, and eventually causes respiratory failure in the CF population. Double lung transplants are often the only end stage option with this disease. 80% of the deaths from CF are due to lung problems.

With this disease, the pancreas is another organ that takes a major hit due to the increase of thick mucus. Excessive mucus in the pancreas prevents the release of digestive enzymes that enables the body to breakdown food and absorb nutrients necessary to sustain life. This leads to malnourishment and poor growth and often diabetes. Cystic fibrosis can also cause liver disease by producing thick mucus that blocks the common bile ducts.

Symptoms of Cystic Fibrosis include:

• Salty tasting skin
• Persistent cough (with or without phlegm)
• Lung infections with pneumonia and bronchitis
• Wheezing or Shortness of breath
• Poor growth, poor weight gain despite great appetite
• Frequent greasy, bulky stools or difficulty with bowel movements
• Clubbing of fingers and toes due to poor oxygenation and chronic illness
• 97% of men suffer with infertility, 20% of women suffer with infertility

Cystic Fibrosis is a disease that is most common in persons of Northern European descent. It is least common amongst in African American and Asian populations. There are approximately 30,000 people living with CF today (greater the 70,000 worldwide). There are 1,000 new cases diagnosed each year. About 75% of people are diagnosed by age 2 and more than half of the current population living with disease are over 18 years old.

There have been tremendous advances in genetic testing and research which has drastically increased life expectancy of this population. In 1960 the median survival age for a child born with Cystic Fibrosis was 6 months or less. By 2010 the median age jumped to 37 years old for women and 40 years old for men. Today the predicted survival age is approximately 40 years.

Perhaps the single most important discovery in Cystic Fibrosis research came in 1989 when the defective CF gene was discovered. This meant that researchers could learn more about the defective gene and work towards curing this disease. It also meant that prospective parents and pregnant women can have testing done to determine the risk of conceiving a child with Cystic Fibrosis. Researchers have found that there are approximately 1700 known mutations within this gene and standard genetic testing includes only the most common forms of the defective gene. Further testing can be done if necessary or indicated. This is the basic genetic breakdown for CF:

• To have a child born with CF the child must inherit 2 copies of the defective gene- one from each parent
• Each time 2 CF carriers have a child the chances are:
  • 25% of conceiving a child that has CF disease ( 1 in 4)
  • 50% of conceiving a child that is a carrier without disease (1 in 2)
  • 25% of conceiving a child that is not a carrier or has the disease (1 in 4)

  [*]Couples with 1 copy of the defective gene (one parent only) are considered carriers. No disease and can pass along the carrier gene to their child

Drugs that have been found to target the basic defective Cystic Fibrosis gene were approved for use in 2012. Cystic Fibrosis Transmembrane Conductive Regulator or CFTR modulators are expected to add decades of life to some patients with cystic fibrosis. The research continues on new drugs to target this gene.

For many parents this disease comes as a surprise. Just like in my family, we never knew of anyone who had the disease until my cousin was born with it. There have been references made as early as the 1800s to children with "salty tasting skin when forehead kissed being destined to an early death", so it is assumed that the defective gene has been in existence for hundred of years. Many children died without a "known" cause early making it difficult to follow a family history of these types of genetic mutations.

If Cystic fibrosis is suspected in a newborn or young child, there are a variety of tests that can be performed to make a definitive diagnosis.

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In addition to newborn screening and sweat tests, other tests that may be conducted at any age include a blood test to identify differences in the CFTR gene: pulmonary function tests to measure the amount of air exhaled and its velocity, chest X-rays to show mucus density in the airways, fecal fat test to measure the amount of fat in the stool and determine fat absorption, pancreatic test to evaluate the presence of the enzyme fecal pancreatic elastase and pancreatic function, secretin stimulation test to check how the pancreas responds to the hormone secretin, trypsin/chymotrypsin test to measure the amount of trypsin or chymotrypsin in fecal matter, and upper gastrointestinal and small bowel series to see if there are any structural or functional abnormalities in these organs.

- Living with Cystic Fibrosis | Cystic Fibrosis Age of Onset | CF News Today

Currently, patients with Cystic Fibrosis manage their disease by following a strict and time consuming treatment routine that is modified as their disease progresses and affects multiple organs. Treatments include a combination of airway clearance, medication, exercise and nutrition therapy.

1. Airway clearance- inflatable vests are utilized that vibrate the chest at high frequency to loosen and thin the mucus. Also chest PT such as cupping aid in loosening the mucus in the lungs.
2. Inhaled medications- used to open airways and thin mucus and also include inhaled antibiotics to fight off or prevent infection from forming in the thick mucus
3. Pancreatic enzymes- used to help the body breakdown and process fats and nutrients consumed
4. High protein, High calorie diet- frequent meals to increase calorie intake to help offset the risk of malnutrition and nutritional deficiencies.
5. Exercise- this can be difficult due to lung function, however research has shown that quality and life expectancy improve with regular exercise.

Chronic illness of any type can create so many daily physical and emotional challenges to both the patient and their family. Depression is common. Attempting to keep children's life "as normal as possible" is imperative in preventing depression and social isolation. Open communication with schools, counselors, coaches is just as important as the communication with physicians and dieticians. So many new and current information is being discovered regarding this progressive and terminal disease. Through continued funding for research, new medications, therapies, and genetic modifications will add years of life to patients with Cystic Fibrosis and hopefully eradicate this gene in the future.

About Cystic Fibrosis | CF Foundation

Cystic fibrosis - Wikipedia

Living with Cystic Fibrosis | Cystic Fibrosis Age of Onset | CF News Today