Cystic Fibrosis: How Leaders Can Help
Valerie M. Hudson, PhD
Orem UT USA
From: LEAVEN, Vol. 38 No. 5, October-November 2002 pp. 99-102.
What is Cystic Fibrosis?
Cystic fibrosis (CF) is a genetic, life-threatening disease that causes severe lung damage and nutritional deficiencies. It changes the composition of bodily fluids such as sweat and tears. Pancreatic fluids, bile, and mucus are normally thin and slippery but due to a defective gene, they become thick and sticky, thus plugging up tubes, ducts, and passageways, especially in the lungs and pancreas. Even if treated, the end result is almost always respiratory failure and premature death.
The gene that causes CF is a recessive gene; thus both parents must carry one copy of a CF mutation. If a child inherits only one copy of the gene, they won’t develop CF but are carriers and might pass that gene on to their children. In the United States, approximately one in 23 Americans are carriers. The chances of marrying another carrier are approximately one in 400. Each conception of such a couple carries a one in four chance of producing a child with CF. About one in 2500-3000 births in the US is a child with CF. There are approximately 30,000 individuals with CF in the US and some estimates indicate approximately 250,000 individuals with the disease worldwide. CF is a fairly common genetic disease in Caucasian and Semitic people. The disease is rare in those of African and East Asian origin.
Researchers believe that it was the Black Plague of the 1300-1500s that increased the proportion of CF carriers in Europe and the Middle East, thus making the disease more common in the people of those regions. People who are carriers of one copy of a CF mutation appear to be more likely to survive diseases, such as the plague, that kill through severe dehydration of the body’s cells (Cassano 1985; Josefson 1998; Gabriel 1994).
In medieval days, midwives would tell mothers to lick their newborns, and if they tasted salty, the child was "bewitched" and would die before their first birthday. These children were children with CF; their sweat pores would release especially salty, high volume sweat.
The Pathology of CF
The nature of CF varies depending on the severity of the disease and the age of the child. One child’s symptoms may begin with digestive problems, another’s may begin with respiratory problems, and still another can have both problems from the beginning.
CF affects a protein called the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein. The gene that causes CF produces defective CFTR so the levels of chloride, sodium, and water within the cell and outside the cell become unbalanced. The imbalance causes mucus to become thick and sticky, clogging airways and providing a breeding ground for infections.
Some children have enough CFTR function to render the disease relatively mild. Typically, one distinguishes between these mild cases and more severe cases by ascertaining whether the individual is "pancreatic sufficient" or "pancreatic insufficient." When the disease is mild, one of the earliest symptoms does not appear—the blockage of the pancreatic duct, resulting in minimal or no flow of pancreatic enzymes to the small intestine. Individuals who are pancreatic sufficient are still able to digest their food, and do not need to ingest supplemental enzymes. However, pancreatic insufficiency strikes the majority of persons with CF, and they need supplemental enzymes in order to digest their food. In the US, over 80 percent of persons with CF are pancreatic insufficient and are usually diagnosed within the first year of life. Pancreatic sufficient people are usually not diagnosed until late childhood.
Before the days of supplemental pancreatic enzymes, the life expectancy of children with pancreatic insufficiency was about one year of age. The children would starve to death no matter how much food was consumed because they did not have enzymes for digestion. Indeed, it is still recommended that children with pancreatic insufficiency strive for 150 percent of the recommended daily caloric intake of a normal child.
In people who have pancreatic insufficiency, the first symptoms are likely to be gastrointestinal. The lack of functioning CFTR results in hyperabsorption of salt and water in the body’s cells, leading to thick, sticky mucus. This mucus will cause blockage of the pancreatic duct, possible obstruction of the intestines, and possible blockage of the bile duct. The blockage of the pancreas and liver will cause damage to those organs; indeed, in about three percent of cases, a person with CF will die of liver failure. The thick mucus will also block the vas deferens in boys, leading to sterility. Women with CF may have thick cervical mucus, resulting in lower fertility. CF also creates significant sinus problems, sometimes resulting in complete obstruction of the sinuses. Most importantly, CF affects the lungs.
Ninety-seven percent of people with CF will die of respiratory failure caused by the thick, sticky mucus of the lung, coupled with the excessive inflammation and decreased competence of the immune system. The mucus, instead of catching and moving harmful bacteria and other substances out of the lungs, will instead trap them within the lungs and provide a growth medium for the invaders. The excessive inflammation will damage the lungs directly, while the decrease in immune system capability will prevent the body from eradicating colonies of bacteria and fungi that begin to grow. A person with a severe CF mutation who is untreated will lose, on the average, three percent of his lung function per year. The average age at death for the most common mutation is 23 years, an improvement over the previous age of death at one year when the disease was discovered. Great strides have been made in treating the disease, and the average survival age for all persons with CF is now about 31 years in the United States.
How is pancreatic insufficient CF currently diagnosed? About one in five infants with CF will be born with meconium ileus, a potentially life-threatening obstruction of the bowel. Sometimes this condition can cause death in utero. When the infant with meconium ileus is born, meconium will not be passed. An ultrasound can be done to check for meconium ileus, which develops in the third trimester, and if found, emergency surgery will be necessary to correct the condition.
More and more states are requiring a blood test that will indicate if an infant is at risk for CF. Also, some infants manifest severe respiratory problems almost from birth, leading doctors to suspect CF. There are emergency conditions that can arise with CF: severe electrolyte imbalance, usually from an episode of heat exhaustion (children with CF are prone to dehydration from heat because their sweat pores release a greater volume of water and salt than normal); severe deficiency of one or more of the fat soluble vitamins A, D, E, and K (which are not absorbed well due to the pancreatic insufficiency). A deficiency of vitamin K can lead to subcutaneous bleeding. If it occurs in the brain, the child may develop cerebral palsy as well. However, the most frequent reason for infants with pancreatic insufficient CF to be diagnosed is failure-to-thrive. Failure-to-thrive can be delayed in the breastfed baby with CF; it may begin insidiously and even seem to "sneak up" on the mother and health care providers. Because of the high digestibility of human milk, and the fact that human milk includes its own lipases (enzymes that break down fat), breastfed babies with CF may exhibit almost normal growth until four to six months of age, or about the time infants begin to eat solid foods. At that point, their growth begins to plateau. They develop a misleading puffiness that is actually protein edema (accumulation of excess fluid in body tissues, causing swelling) from malnutrition. Hair and fingernails may stop growing. The hair may turn reddish from malnutrition. For example, one of my children with CF who had weighed a hefty 10 pounds, 1 ounce at birth, weighed only 15 pounds at 9 months after a steady gain to that point. Any breastfed infant weighing less than the 5th percentile for weight should probably be checked for CF.
Another indication of CF is the appearance of babies’ stools. The exclusively breastfed child with pancreatic insufficient CF will typically have neon green stools whose consistency is that of a soft pudding (a puffy appearance with no curds). The neon green comes from the vitamins that are not being absorbed; the puffiness indicates that the fat in human milk is not being absorbed. Children on solids may have stools that are described as being "greasy and foul-smelling." A child with CF may have greater difficulty passing stools, but may pass stools many more times a day than would an infant without CF.
One other indication, though this does not occur in all CF infants, is that the baby may reject solid food. This may be because the salivary glands of children with pancreatic insufficient CF are sometimes obstructed. They may not have much saliva, and what they do have may be thicker than normal. Dry food, therefore, is uncomfortable for them to chew. Parents may have to add gravy or water to nearly all their child’s food. Another clue is copious sweating in hot conditions, perhaps accompanied by visible salt residue after the sweat has dried. This may also lead the child to favor salty foods when they are presented to them.
Diagnosis is started with a sweat chloride test. This tests the amount of chloride in sweat: a very high reading is indicative of CF. Another new test is the Nasal Potential Difference test, which can be significantly quicker than the sweat chloride test. If CF is indicated, your doctor will probably want a Cystic Fibrosis Mutation Analysis (CFMA), a blood test that analyses DNA for the most common mutations. In many parts of the world*, a child diagnosed with CF will be referred to a regional CF clinic. [Editor’s note: In most parts of the world, there would be a CF clinic. There are clinics in Russia, East and West Europe, Latin America, Australia, the United States, and parts of the Middle East, with the highest number of clinics per patient in the US and Western Europe.
If a baby or child has pancreatic insufficient CF, pancreatic enzymes will be given with each substantial nursing session and with solid food. Most often, the enzymes are mixed in a medium like applesauce and administered via periodontal syringe or spoon. Vitamins A, D, E, and K will be needed daily. An exclusively breastfed baby’s stools will immediately turn yellow, but a more bright yellow than the normal ochre color, when the daily enzyme/ADEK regimen is begun. A few curds may now appear in the stool, though the stools will still retain some puffiness even with enzymes. If the baby is not gaining well even after establishment of enzyme therapy, the doctor may recommend a naso-gastric tube or stomach feeding tube (gastrotomy) with supplemental high calorie feeds. Depending on when the baby was diagnosed, he may be developmentally delayed. However, the baby often catches up fully at a future point.
When the baby begins eating solid foods, it is possible that he will develop occasional bowel blockages, usually because the fecal matter is dehydrated. The consistency of stools becomes hard and clay-like, which may lead to constipation, hemorrhoids, gastroesophageal reflux, and in rare cases, a prolapsed rectum. In most cases, a little prune juice or oil may help the baby pass stools more easily; in severe cases surgery may have to be contemplated.
Babies and children with CF need to avoid situations where they will become overheated. If they begin to sweat profusely, an electrolyte solution will restore balance. Human milk itself cannot correct this, and solutions such as Pedialyte or ORT can be given with a periodontal syringe. In hot climates, air conditioning in a home can be almost essential.
Lung disease in children with CF is variable so there is no set pattern for care as there is with the gastrointestinal problems. All patients with CF are urged to do some type of mucus clearance activity several times a day. This may include the traditional "thumping" (chest percussion) on the lung areas along with postural drainage with the head tilted downward. Some families use a specially manufactured vest that vibrates the chest wall; older children can learn to use other methods of mucus clearance. Some clinics urge the use of inhaled mucolytics. Since children with CF are prone to develop colonies of bacteria in their lungs, oral or inhaled antibiotics, bronchodilators, and even oral or inhaled steroids may be prescribed.
When the day’s regimen for the child with CF is put together—mucus clearance, inhaled medications, enzymes, exercise (very good for the CF child), and other possible treatments—parents and children have a busy day. A master chart listing all needed therapies and medications that is filled out daily can assure that all parts of the regimen are fulfilled at the correct times.
Breastfeeding and Cystic Fibrosis
Breastfeeding the child with CF is a tremendous benefit with numerous advantages. Human milk is highly digestible, contains its own lipase, and makes smaller curds that decrease the chance of an intestinal blockage. Human milk has been shown to lessen the incidence and severity of respiratory and gastrointestinal infections, it has anti-inflammatory properties that help prevent allergic reactions, and it has antibacterial and antiviral properties. Human milk contains vitamins and minerals in maximally absorbable form, and is also very high in antioxidants and DHA (substances deficient in CF). Human milk also promotes the formation of healthy intestinal (gut) flora, which is essential to good digestion and the manufacture of vitamin K. Children with CF may often be on antibiotics. Breastfeeding helps reestablish the healthy gut environment that is disrupted by the antibiotics. In times past, CF clinics discouraged breastfeeding because the emphasis was on high weight gain. Seeing the larger role of breastfeeding in optimal health means that weight gain must also be looked at in the context of overall health.
How The Leader Can Help
Many of the issues that occur with a child with CF will need medical attention. However, the mother of this child may also need help with the management of breastfeeding in order to ensure that she has a good supply of milk since children with CF need plenty of calories to make up for the lack of digestion that can occur. Nursing frequently and long enough for the baby to get hindmilk, which contains necessary fats, is important. So, too, might be helping her find a way to administer the pancreatic enzymes that the baby will possibly need. There may also arise the need for supplemental nutrition given in a way that will not interfere with breastfeeding. The mother will need to have good nutrition and above-average hydration to fulfill the needs of the baby with CF while ensuring she has the energy and stamina to care for a child with extra needs.
As Leaders, we can model sensitivity and awareness of the needs and challenges that a mother of a CF child may have. Knowing that a CF child will experience breathing difficulties if exposed to hot weather, a Leader may adjust her expectations of the mother during the World Walk for Breastfeeding in August. Realizing that a mother of a CF child may not feel she can safely bring her child to Group meetings where babies and toddlers with runny noses and colds may be, a Leader may find other ways to offer support to the mother outside of the Group setting.
Most of all, a mother of a CF child needs a listening ear, for the challenges of caring for such a child are great. Her whole life may feel upended. The dreams she might have had for her child may be lost, and she may need to create new dreams. Dealing with the medical care system may be frustrating. A kind and patient Leader with an understanding of the disease and the lifestyle changes it demands can offer perspective and support, especially in regard to the importance of maintaining the breastfeeding relationship. Speaking as a mother of three children with CF, I choose to live in hope, not fear. Loving Leaders who can foster an attitude of hope would be a priceless gift to any mother of a newly diagnosed CF infant.
"Is the Onset or Severity of Cystic Fibrosis Influenced by Breastfeeding?"
S. D. Freedman, B. P. O’Sullivan, M. M. Regan, E. M. Parker, and J. C. Shea.
Although breastfeeding (BF) is advocated for healthy children, it was initially thought to be detrimental in infants with CF. However, this viewpoint has changed over the last decade.
The aim of this study was to determine if breastfeeding affects the severity and onset of CF symptoms. Methods: 3500 questionnaires were sent to 30 accredited CF centers for anonymous completion. 618 questionnaires have been returned thus far and computer scanned.
Statistical analyses were restricted to pancreatic insufficient patients </= 15 years of age who did not present with meconium ileus and do not have short bowel syndrome (n=396). Age at onset of symptoms and diagnosis, FEV1 (forced expiratory volume in 1 second) and IV antibiotic use were analyzed based on BF characteristics.
Results: BF for >/= 4 months (exclusively or with formula) resulted in a significant delay in onset of symptoms compared with no breastfeeding or breastfeeding < 4 months (p=.04). 62.2 percent of those BF exclusively had FEV1 > 90 percent compared to 51.5 percent of those not BF, although this did not reach statistical significance.
IV antibiotic use over the last 2 years revealed that 9.8 percent of patients exclusively BF had >/= 2 courses of IV antibiotics and 65.9 percent had no IV antibiotic use, compared to 21.2 percent of non-BF patients having >/= 2 courses and 58.2 percent receiving none (p=0.014).
A severity index incorporating current FEV1 and IV antibiotic use over the past 2 years demonstrated an inverse association between months of BF and severity of disease in children currently </= 15 years of age (p=0.049).
Discussion: Based on this preliminary analysis, BF for >/= 4 months is associated with delayed onset of symptoms and decreased severity of disease.
The latter is of interest given our findings that certain manifestations of CF in CFTR -/- mice appear to result from an increase in arachidonic acid and a decrease in DHA.
The strong correlation between BF and higher socioeconomic status and decreased cigarette use suggests that BF may also be a marker for other factors contributing to well-being in CF and not the direct cause of improved health.
Abstract 500 presented at the 14th annual North American Cystic Fibrosis Conference, November 2000.
Cassano, W. F. Cystic fibrosis and the plague. Med Hypotheses 1985; 18(1):51-2.
Gabriel S. E. et al. Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model. Science 1994 Oct; 266(5182):107-9. Comment in: Science 1995; 267(5197):440.
Holliday, K. et al. Growth of human milk-fed and formula-fed infants with cystic fibrosis. J Pediatr 1991; 118(1):77-79.
Hudson, V. M. Rethinking cystic fibrosis pathology: the critical role of abnormal reduced glutathione (GHS) transport caused by CFTR mutation. Free Radical Biology and Medicine 2001; 30(12):1440-61.
Josefson, D. CF gene may protect against typhoid fever. BMJ 1998; 316(7143): 1481.
Lawrence, R. and Lawrence, R. Breastfeeding: A Guide for the Medical Profession, 5th Ed. St. Louis, Mo: Mosby, 1999.
Luder, E. et al. Current recommendations for breast-feeding in cystic fibrosis centers. Am J Dis Child 1990; 144:1153-56.
Michel, S. and Mueller, D. Impact of lactation on women with cystic fibrosis and their infants: A revew of five cases. J Am Diet Assoc 1994; 94:159-65.
Riordan, J. and Auerbach, K. Breastfeeding and Human Lactation 2nd Ed. Boston: Jones and Bartlett, 1999.
Mohrbacher, N. and Stock, J. THE BREASTFEEDING ANSWER BOOK, Revised Edition. Schaumburg, Illinois: La Leche League International, 1997.
www.cff.org: The Web site of the Cystic Fibrosis Foundation of America
www.cfri.org: The Web site of Cystic Fibrosis Research, Inc. Contains links to most other Web-based resources on CF. Cystic Fibrosis Research, Inc. Bayside Business Plaza, 2672 Bayshore Parkway, Mountain View, CA USA 94043 650-404-9975
www.cystic-L.org: Cystic-L sponsors an Internet discussion group on cystic fibrosis with about 600 subscribers. They also offer a FAQ (Frequently Asked Questions) section on their Web site; this is a wonderful resource to read after a diagnosis.
http://members.tripod.com/uvicf/index.htm: Web site of the Utah Valley Institute of Cystic Fibrosis. Contains an important page on glutathione research with connection to CF.
Valerie Hudson has been an LLL Leader for 15 years, and has three children with cystic fibrosis (CF), ages 5, 3, and 3 months. In addition, an article she wrote about a therapeutic approach to CF was published in Free Radical Biology and Medicine in 2001. The trials based on that approach have just begun. It is therefore with a unique perspective—as a mother, a Leader, and someone deeply involved in researching CF—that this introduction for other LLL Leaders was written.