Dancing Away Disability Part 2

Non-Classic Cystic Fibrosis—

The Terrifying Diagnosis That Saved My Life

By Irene Marie Kuch Watson

Year after year I struggled with one frightening pneumonia after another and the answer to why was as elusive as the White Rabbit was to Alice. Pneumonia is a scary health threat. When you have it, oxygen has trouble reaching your blood and, if the amount of oxygen in your blood drops too low, your body cells can't work properly and you could die. If a single pneumonia doesn’t kill you, the progressive destruction of lung tissue by recurrences of the disease eventually will. It’s a frightening disease and I wanted to know why it was happening to me.

Prior to my mid forties I had more than the average number of respiratory infections and digestive disturbances and, despite the help of fertility drugs, I was never able to get pregnant. But when I was 47 everything got much worse. My health spiraled downhill as successive and non-resolving pneumonias became a way of life. It was only through exceptional self-advocacy, something I fortunately learned in a class, that my diagnosis of Nonclassic Cystic Fibrosis was revealed and finally treated 22 years later when the pneumonias had already destroyed significant portions of all five lobes of my lungs.

Over the years my primary care physicians referred me to pulmonologists, gastroenterologists, otolaryngologists, endocrinologists, infectious disease specialists, immunologists, allergists, and gynecologists to diagnose and treat the problems of my body’s various subsystems. Each medical specialist diagnosed my issues in terms of his or her own specialty, but no one was able to see the bigger picture of CF, which affects all of these subsystems of the body.

In normal persons without CF, the body’s internal ducts, such as the airways and the intestines, all have tiny hairs that beat in rhythmic waves to move fluids and substances along. In the airways this movement removes foreign matter; in the pancreas it transports digestive enzymes to the intestines. Exocrine glands secrete slippery fluids into all the ducts to facilitate the movement. However, in persons with CF these glands produce sticky substances that clog rather than lubricate the ducts.²

In the pancreas, clogged passageways prevent the secretion of digestive enzymes into the intestine, seriously impairing digestion, especially the digestion of fats and carbohydrates, which can lead to painful bloating, reflux, constipation, poor weight gain and growth, diabetes, and fragile bones. In the reproductive system it can block the passage of ovum or sperm and create infertility.

The lethal nature of CF, however, is due primarily to progressive lung disease. Mucus, the lubricant in the lungs, can be so thick it causes breathlessness and wheezing. Over time increasingly dangerous microbes are attracted to this environment and take up residence and cause pneumonias that are increasingly difficult to eradicate.³ The resulting lung deterioration eventually leads to respiratory failure and death.

CF is an inherited disorder for which there is currently no cure. Both parents are carriers, though they are usually unaware of it. CF physicians consider two forms of CF, classic and nonclassic.⁴ In classic CF, symptoms of the disease generally appear in infancy or childhood and tests for salty skin or a CF-causing genetic flaw are positive. Currently the median life expectancy for classic CF is only 38 years. ⁵ Fortunately that age is much higher than it once was and it is expected to go up further as new treatments are found. I have a nonclassic form of CF, both because my severe CF symptoms had an adult (versus childhood) onset and because my skin and genetic test results were indeterminate, though I have all the physical symptoms of the disease, including bronchiectasis, pancreatic insufficiency, lung infections by a succession of bacterial pathogens that are indicative of CF, plus ancillary test indications that I have CF.

Today newborns in all 50 states and the District of Columbia are screened for CF in the first two to three days after birth. Early diagnosis of CF is critical as it provides access to lifesaving treatment. But I was born years before the existence of standardized tests for CF or specialized CF treatment centers. These came into existence during my late teen years and focused exclusively on Classic CF until the past decade when adult-diagnosed Nonclassic CF began to be recognized as another form of the disease. Most of us today with the Nonclassic CF diagnosis experienced many years of disease and accumulated permanent lung damage before receiving a diagnosis and treatment. Yet many others have died, and likely many are still dying, without their NonClassic CF ever being diagnosed (as I suspect was the case for two friends of mine with bronchiectasis, recurring pneumonias and other CF-like symptoms). 

As a child I had many respiratory infections, pertussis (whooping cough), and my first pneumonia at age 13.  At 19 my frequently infected tonsils and adenoids were surgically removed with the hope it would end my respiratory infections.  But hope failed. My GI distress became increasingly troublesome and when I was 25 I moved west to avoid the stress of the frigid Midwest winters. By age 32 my GERD (gastro-esophageal reflux disease) and Irritable Bowel isues were chronic and I began decades of treatment with anti-reflux medication. Then, when I was 47 (1989) my health issues became terrifying. I made many trips to the Emergency Department (ED) for severe thoracic pain, shortness of breath and an intense cough. I lost weight and became a skeletal 99 pounds. Fatigue was a constant companion. My 22 years of persistent and recurring pneumonia caused by unrecognized and untreated CF had begun.

We each have living within and on our bodies about 10 trillion bacteria. Most of these cause us no harm and some, e.g., the probiotic bacteria, are even beneficial. Some, however, are opportunistic pathogens that are normally benign, but in persons with weakened host defenses they become infection-causing pathogens. During the 80s and 90s a new group of opportunistic bacteria, cousins of the bacteria that cause TB,⁷ infected the lungs of persons with AIDS or CF, whose weakened lungs and host defenses predisposed them to such opportunistic infections. These Non-TB Mycobacteria (also known as NTM or atypical TB) attacked vulnerable people causing TB-like lung infections that were notoriously hard-to-diagnose and hard-to-treat. Though I had NTM bacteria in my lungs and my chronic pneumonias were not responding to standard treatments, it took years to recognize that the underlying condition that predisposed me to such pneumonias was CF. In the meantime the continuing cycle of infection and inflammation was destroying my lung tissue and blocking my air flow. Over time I was diagnosed with bronchiectasis (the widening and destruction of the large airways of the lungs) and COPD (Chronic Obstructive Pulmonary Disease, typically caused by smoking, though I never smoked).

When I was 54 (1996) a radiologist reported for the first time that my chest X-rays, going back as early as 1991 or perhaps even 1989 (when I was 47), showed a persistent pattern of nodular opacities consistent with an NTM bacterial infection of the lungs. This finding triggered five years of lung biopsies, bronchoscopies and sputum inductions in repeated attempts to capture some of these elusive critters for the lab to ID their species and to determine if they had any vulnerability to antibiotics. Eventually five species of NTM were collected from my lungs, Avium, Intracellulare, Gordonae, and the fast growing more dangerous Absessus and Chelonae. Then after five more years of treatment with various antibiotics the NTM infection finally disappeared from my lungs (in 2006 when I was 64). Today it is known that CF is the underlying cause of my bronchiectasis and COPD and it was CF that created the thick sticky mucus in my lungs that made me vulnerable to NTM infection. Pulmonologists specializing in CF have a better grasp on how to diagnose and treat NTM infections. But the underlying cause in my case back then was felt to be asthma rather than CF. Therefore my CF went untreated for so many years. I am fortunate to have survived those 17 years of NTM lung infection; 17 years during which I practiced every survival skill I knew.

During the 1990s, while I struggled with my NTM lung infection, my physicians also noted the continued presence of the fungus Aspergillus in my lungs. They wondered, but couldn’t agree on, whether I had a fungal lung disease called ABPA (Allergic BronchoPulmonary Aspergillosis) ⁸ and whether it might be the cause of my persistent lung infections.  In people with predisposing lung diseases, such as persistent asthma or CF, several factors lead to an increased risk of ABPA by allowing Aspergillus spores to persist in pulmonary tissues. The first line of defense is to control the underlying disease, which in my case was not yet correctly identified as CF. In ABPA the immune system sees Aspergillus as an allergen and treats its continued presence with chronic inflammation. For acute infections, Inflammation is a wonderful weapon of the immune system. But chronic inflammation is an ever-burning torch that destroys lung tissue. The standard treatment for chronic inflammation is corticosteroids (such as prednisone), whose side effects rival the disease in nastiness.  Consequently, having ABPA is really bad news.

Seeking an answer as to whether I had ABPA, my physicians sent my blood to ABPA world experts in California, Illinois and Switzerland. In 2001, though the experts agreed that I didn’t currently have ABPA (Big sigh of relief here), opinions were divided between those who thought I’d had ABPA in the past and one who thought I was highly sensitized to the fungus and on the verge of getting ABPA. When the world experts disagree, who knows? Just pray the one guy got it wrong. I’m sure you know which one I mean,

All through this period I was prescribed course after course of antibiotics, initially just guesses as to what might work. I had visits to emergency rooms and hospital stays nearly every year. I became increasingly skinny and frail. Despite this medical history and despite the fact that NTM bacteria only infect certain susceptible people, like those with CF, my physicians did not suspect nor test me for CF until 2003, 12-14 years after the first signs of NTM appeared in my lungs. But eventually I was one of the lucky ones, who was in fact tested and treated for CF before it took my life. Such was the state of the science.

Over the years, in the interest of diagnosis, I underwent more than 60 radiological exams (X-rays, CT scans, and lung perfusion and vent studies), five bronchoscopy operations (to look inside my lungs and take mucus samples and tissue biopsies), a pulmonary angiogram (where a physician ran a tube inside a vein from my groin to my lungs to rule out a pulmonary embolism during a pneumonia), and thousands and thousands of needles. I really dislike needles, especially when someone decides to use the back of my hand as the pincushion. Blood draws from an artery hurt the most, but IV infusions can be bad too. My blood vessels tend to roll away or collapse and some technicians, hating to give up, dig for that vessel like a pig rooting for truffles, before finally giving up and starting over in a new spot.

In 2003, while I was still being treated for NTM, I was finally tested for Cystic Fibrosis. As part of a research study at Stanford I was selected (along with about 50 others with symptoms like mine) and given the tests for classic CF, the test for salty sweat and the DNA test. My results (as patient #13 in the study) ⁹ were indeterminate, neither yes nor no. My physicians were stymied and felt that any further evaluation was beyond known medical science. Hence I was NOT treated for CF nor referred to a CF center for further evaluation.

Between 2004 and 2010 I also had five extensive evaluations of my immune system by different prestigious institutions and each found various defects. However, it wasn’t clear if any of the defects were responsible for my progressive lung disease. But on the chance that they were, in 2007 I was put on a program of infusions of antibodies (extracted from the plasma of blood bank blood) for which I began to spend a half-day in the hospital each month. I was told I’d need to do this for the rest of my life. 

As my lung disease progressed and became increasingly dangerous, I learned to take an increasingly pro-active role in my medical care. I took classes in genetics, stress management, yoga, meditation, nutrition, and the self-management of chronic disease. I read a great deal of medical literature to grasp the issues involved in my case. I took a lot of notes, maintained copies of my medical records and prepared summaries, spreadsheets and graphs to convey my complex health information to each new physician. I sought evaluations and opinions from one prestigious medical institution after another, including Stanford University Medical Center, Mayo Clinic Minnesota, Mayo Clinic Arizona, the University of Arizona Medical Center, and the Community Hospital of the Monterey Peninsula as well as from several reputable physicians in private practice. I also explored Naturopathic and Ayurvedic medicine.

Eventually my lungs became infected by the deadly bacterial pathogen Mucoid Pseudomonas Aeruginosa,¹⁰ These bacteria were first found in my lungs in 2000 and then again beginning in August 2009. By late 2010 extensive areas of all five lobes of my lungs were already permanently destroyed by disease. The presence of this multi-drug-resistant pathogen in the airways of a CF patient is considered a marker of a poor chance of survival. Is that what it meant for me too? Fortunately, while I was in this enfeebled state and while struggling for each breath, I managed to get myself referred to National Jewish Health in Denver, the national pulmonary referral center, the site of the largest adult CF center in the country, and a leader in understanding and diagnosing nonclassic CF.¹¹ There, on my 69th birthday in November 2010, NJH diagnosed my many symptoms as being caused by the lethal incurable underlying disease of nonclassic CF and then prescribed treatment that stopped the decades-long downward spiral of my health and wellbeing and saved my life.

Scientists have documented 1500 different defects of a certain gene (known as the CFTR gene) as causing classic CF. Not all of these defects manifest the same degree of severity of disease.  Manifestations of nonclassic CF add to the range of presentations of the disease, As a result, diagnosis at times can be very elusive, as it indeed was for me for so many years. People with Nonclassic CF may live somewhat longer than people with classic CF, but the disease can nonetheless become just as severe, just as lethal, as classic CF.¹²

Genetics aside, quality of care is the main determinant of CF survival.13 The best care involves regular monitoring and prompt treatment of symptoms by a specialized CF center plus a home care program that includes daily airway clearance, a multitude of medications (including antibiotics and anti-inflammatories), excellent nutrition, exercise and other good health practices. I am very fortunate to have been referred to the outstanding CF center at National Jewish Health where I continue to receive comprehensive semi-annual evaluations and adjustments to my home care regimen. Unlucky are the many who have CF and who are never diagnosed and therefore never treated at a CF center, where providers have a specialized expertise in this complex multi-organ disease and are able to save lives that are otherwise lost.12

I was indeed one of the lucky ones when it came to cystic fibrosis, but cystic fibrosis wasn’t my only worry.

(The story is continued in Part 3, Parkinson's Disease—The Nightmare of Losing Control. See Part 7 for all references.)

© 2014 Irene Marie Kuch Watson