Don began showing symptoms of Sarcoidosis (sarcoid) early in 1989. The diagnosis was confirmed by biopsy in August 1989. A variety of symptoms presented prior to his service in the first Gulf War and increased in breath and severity during his yearlong activation. Unfortunately, civilian and military doctors did not connect these problems to sarcoid at the time. Don was evaluated for Gulf War syndrome and listed for �unknown illnesses�. This frustrating pattern of misdiagnosis and treatment continued for a decade.
Sarcoid is an inflammatory disease believed to be caused by inappropriate immune system activity. Its effects can be widespread throughout the body. The mechanisms that govern the disease and its cause are not known. There is no way to influence the disease itself. Only the symptoms can be treated. Sarcoid affects multiple systems and mimics other disorders, so it is difficult to diagnose and treat individual groups of symptoms. It is hard to tell if the symptoms are due to sarcoid activity or a more common cause. The extent and rate of progress of the disease is not predictable, so it is not possible to develop a clear prognosis. In most cases, sarcoid spontaneously remits after doing some temporary or permanent damage. In Don�s case, the disease is chronic and severe. It may be fatal.
The most popular systemic treatment for the inflammation associated with sarcoid is use of corticosteroids like prednisone. Don has used this treatment, along with other less traditional methods. All of these medications have serious side effects that limit their long-term use. The effects of sarcoid are compounded because the immune system is seriously compromised. In essence, Don�s body is engaged in a civil war against itself. Because his immune system is busy attacking his own tissues, he has less immune resources available to counter the outside invaders associated with other illnesses and disease.
To make matters worse, the medications Don takes are designed to suppress his immune system in hopes of decreasing the sarcoid related damage to his tissue. The result is that Don is more susceptible to common illnesses and infections. He will get sick when others don�t. The impact of the illness will be much more severe, and it will require substantially more time and effort to recover. There is a real danger that Don will be overcome by an illness that a healthy individual would easily manage.
In April 2000, Don discovered that sarcoid was present in his lungs and had caused significant damage. Dr. Pete Lambrou, Don�s Flight Surgeon, intervened and began putting together a team of specialists with expertise with sarcoid at the University of Pittsburgh Medical Center (UPMC). The lead is Dr. James Dauber, considered to be one of the top sarcoid specialists in the world. He has over 30 years experience working with and researching sarcoid. Once doctors with real intimacy with sarcoid began evaluating Don, it became clear that all of his ailments could be attributed to the disease.
It is now assumed that sarcoid is present throughout Don�s body. His lungs have suffered severe permanent damage. The functional decrease in the lungs has caused pulmonary hypertension, which is also a progressive disease that can be fatal. Damage to Don�s heart may trigger the lung transplant, or require a heart-lung transplant. Sarcoid is present in his bone marrow, which compromises production of blood products. Sarcoid tricks his body into absorbing too much calcium, so he must manage kidney stones and calcification of his organs. Some of the calcium is stripped from his bones, so he faces a future with osteoporosis. Sarcoid is present in his sinus tissues and nose. His esophagus no longer functions correctly. He had reconstructive surgery that used a portion of his stomach to wrap the esophagus to manage reflux disease. His eyes are monitored for further sarcoid development, and it appears the disease may be affecting his liver function. The list goes on, but this gives you an idea of how wide ranging and severe Don�s involvement has become.
A double-lung transplant may improve his longevity or quality of life, but sarcoid will remain a challenge in spite of this radical intervention.
Extended Version:
Don�s journey with Sarcoidosis started one spring morning in 1989, when he woke up and was unable to locate his earlobes. He had been having trouble swallowing for several months, and now the glands along his jaw line were so swollen that his ears subtly faded into his neck. Quite a fashionable look, but when it did not subside in a few days, it justified a trip to the emergency room. The physician declared that Don had adult onset secondary mumps. He told Don to quarantine himself in his house for two weeks.
With no progress in returning to facial normalcy after three weeks, Don located a family physician, who sent him off to a specialist dealing with reactions to hazardous environmental exposure. Don had been renovating the house, and the Doctor felt the house was making him ill. The specialist recommended moving out immediately.
This was just the beginning of the multiple contradictory diagnosis�s and treatments that have defined Don�s experience with Sarcoidosis.
Within a month he developed severe dry eye syndrome and could not report to work. His eyes were bright red, itchy and extremely dry. Don saw an ophthalmologist who mentioned that her lab partner in medical school had similar symptoms. She suggested checking for Sarcoidosis. He got a chest x-ray the next afternoon that looked so bad he was scheduled for exploratory surgery the next morning.
Don�s mediastinoscopy and bronchoscopy confirmed a diagnosis of Stage 1 Sarcoidosis, with evidence of granulomas tissue in his lymph nodes, but none found in his lungs. A pulmonary specialist took over his treatment. Don�s symptoms continued with rapid weight loss, increased difficulty swallowing, chocking, night sweats, and general malaise and fatigue. He took a short course of prednisone, which helped alleviate some symptoms, but fatigue and dry mouth persisted.
So the long march to understand and manage a disease that is not understandable or manageable had begun. It is probably worthwhile to take a quick look at sarcoid (once you�re in the club, you get to call it sarcoid) to see what it is all about.
Sarcoid is a soft tissue inflammatory disease apparently caused by inappropriate immune system activity. It can attack any organ or tissue system in the body. The disease is considered to have to phases, active or inactive. The active phase apparently begins when the immune system is activated by some unknown cause and begins a lumping of white blood cells to defend against the perceived invader. The lumping progresses to a point where small bumps called granulomas begin to appear. The granulomas cause localized structural inflammation that can lead to permanent scarring in the tissue.
Ninety percent of sarcoid cases present in the lungs, leading to the belief that that the immune system is activated by something inhaled. In most cases, sarcoid spontaneously remits without doing substantial harm. It is extremely rare for the disease to remain chronic and progress with the degree of devastation that Don is experiencing. In lay terms, something triggered Don�s immune system to turn on, but it has never been triggered to turn off. The damage to his tissue is a by-product of this immune activity.
Nobody knows how this all works, so there is no treatment or cure for the disease itself. It progresses at the rate and extent it chooses. It is active when it chooses, and inactive when it chooses. Symptoms caused by sarcoid activity may be present, or may not. For example, Don�s dad had tissue biopsy done for another illness and the doctors found granulomas in his samples. This indicated he has sarcoid, but he has never manifested any symptoms attributed to the disease. Is this getting weird enough for you yet? Hold tight, it gets weirder.
Although some of Don�s original symptoms improved after the short course of prednisone, chronic fatigue, dry mouth, and difficulty swallowing persisted. These became more severe after his activation for Desert Shield/Storm in August 1990. During the war, Don began to have flu-like symptoms and increased night sweats, along with chronic sinus drainage, headache, and allergy type symptoms. He had bouts of stomach cramping, diarrhea, and gastric reflux. He had coughing fits that caused vomiting. He had a cyst excised from his tailbone.
Don brought all these maladies home with him after the war. The symptoms became worse and he contacted the Veterans Administration for evaluation for Gulf War syndrome, searching for an explanation for his poor health. He didn�t find one. He was listed on their registry for �unknown illnesses�. This began another cycle of frustration that lasted over a decade.
Although once considered a rare disorder, sarcoid is now increasingly diagnosed. This means that it is more familiar to the medical community. The topic shows up more in their journals and literature, and they probably talk about it more in whatever places they get together to talk. It also means that like all people, the doctors probably overestimate their ability to understand the disease. Although he told every doctor he saw that he had sarcoid and they all said they were familiar with the disease, no civilian or military doctor recognized his symptoms were consistent signs of progressive sarcoidosis.
The war was an exhausting experience, especially in light of Don�s medical condition. He returned to a professional and personal life that was equally exhausting. US Air tanked the first time during the war, and although he escaped furlough, Don had to train on a new airplane and commute to work in Charlotte. He and Nancy now faced a very uncertain financial future. Don switched to flying C-130�s at Youngstown, Ohio to retain backup employment for the airline and eliminate one commute. This meant completing training for new airplanes for the airline and military at the same time. Wilson arrived toward the end of the war, so Don and Nancy began devoting all the energy required to become �super-parents�. They moved from Mount Lebanon to the country house in Hanover that helped their immediate circumstances but needed a lot of long-term attention. Instead of slowing down as his capabilities changed, Don�s life was speeding up.
This environment compounded Don�s medical problems. He had continuous problems with chronic sinusitis, sinus infections, nosebleeds, allergy type symptoms, extreme sinus headaches, and a persistent dry, unproductive cough, which sometimes led to vomiting. He spent ten years trying to get a correct diagnosis and effective treatment. He bounced from specialist to specialist. Allergists put him on shot programs and had him bag his mattress for dust mites. When that didn�t work, the specialists said his problems were caused by respiratory infections and put him on stiff antibiotics for months at a time. When that didn�t work, Don went to the best allergist/immunologist in the region. His diagnosis was the most honest and accurate. He said he had no idea what was going on.
Don continued with trouble swallowing and choking, a variety of gastrointestinal problems, gastric reflux so extreme it mimicked a heart attack, rectal inflammation and bleeding, and chronic fatigue. Don was trapped in a similar cycle of specialists with similar results, including the same sense of frustration. All the doctors said they were familiar with sarcoid and some even studied up. None were able to connect the dots.
It is nearly impossible to work as an airline pilot with these medical conditions, but Don pulled it off. He dropped flying in the Reserves, but remained fully engaged in the �super-parent� syndrome. He was unable to get in shape while he and Nancy coached their three soccer teams in spring 2000 and knew something was wrong. In April, he found that sarcoid had seriously damaged his lungs. He found out on the first day he started his upgrade to Captain on the F-100.
Don has been blessed with the best Flight Surgeon in the business. Pete Lambrou is a medical doctor in private practice, and a pilot for US Airways. He is responsible for evaluating whether a pilot is fit to fly. Pete immediately began assembling a team of specialists at University of Pittsburgh Medical Center (UPMC) who have extensive experience with sarcoid to evaluate Don and his condition. Dr. James Dauber, from the Simmons Center for Interstitial Lung Disease is the lead. After extensive testing, they determined Don could continue flying with close monitoring. They were not, however, able to offer any treatment, since the use of the available medications would have disqualified Don from flying. Don was in a trap. The airline was their only source of income and treating the manifestations of sarcoid would take that income away.
In January 2001, Don developed kidney stones. He got a stellar Nephrologist who had not had a patient with sarcoid, but promised to do the homework. She has been awesome. She found Don had too much calcium in his blood and urine, which led to the stones, and if not corrected might lead to calcification of his organs. She found that the granulomas sarcoid produces create chemical products that circulate throughout the body. In this case, one chemical stimulates second stage production of Vitamin D, which in turn stimulates more calcium absorption. Pretty bizarre.
Again, prednisone could be used to mitigate the impact of the sarcoid activity, but could not be used while Don was flying. Since the calcium could not be reduced, the solution was to radically modify his diet to lower the amount of oxalate and phosphorus in his system. This would remove the chemicals that bind to calcium to produce the stones. After more research, Dr. Berty discovered she could use very high doses of an anti-fungal medication to actually reduce the calcium without affecting Don�s ability to fly. The medication has the side effect of inhibiting second stage Vitamin D production. Her innovative thinking kept Don earning an income as long as possible and showed her ability to think outside the box. That type of thinking has become a requirement in Don�s medical treatment.
About the same time he developed the kidney stones, Don found that inflammation due to sarcoid caused the constant sinus problems he had been experiencing since the Gulf War. He was referred to an ear and nose specialist who has an exceptional background with the disease. She saw �cobble stoning� in his nasal tissues, which are visible tissue formations indicating sarcoid. She noted thinning of the tissues in Don�s nasal septum, more evidence of sarcoid.
She aggressively cauterized to stop his problem with nosebleeds and took him off the collection of medications he had been placed on over the years. Several months later, the thinned tissue in Don�s nasal septum tore open. The open hole would reduce Don�s ability to breath if not corrected. Dr. Ferguson surgically installed a �septal button� to cover the hole. It is two plastic discs that snap together through the hole. She also tried to correct a double-deviation in his septum and did some carving to open up his sinuses. The button works great, but the deviation was only partially corrected. Tissues from Don�s nose and sinuses were biopsied, but no granulomas were found.
Don also started seeing a cardiologist in early 2001 to investigate indications of pulmonary hypertension. His heart is forced to work harder to push blood through his damaged lungs. His heart may thicken abnormally or change its form of contraction to meet this increase demand. This heart damage is also progressive that can be fatal. Don began the same series of echocardiograms, sonograms, and heart catherization procedures that heart patients typically experience. They showed hypertension, but the available treatment was not deemed to be worth the risk. Don and the doctors dropped back to a monitoring mode.
Don started seeing the lead heart transplant cardiologist at UPMC in fall 2005. The doctor heads a team that is developing some unique testing procedures to learn more about pulmonary hypertension and its impact on the right side of the heart. They will be using Don as a research subject. He went through specialized sonogram and echocardiograms protocols developed at UPMC and used at only a few hospitals in the world. He also did a neat CAT scan during which they injected dye and timed their scan to capture the dye in sequence as it moved through Don�s heart. They finished with a specialized right heart catherization.
The tests showed that Don�s pulmonary pressures are high but there does not appear to be any substantial damage occurring to Don�s heart. The doctors have opted not to treat Don at this time, and the good news is that several new methods are now available if he condition gets worse. Hopefully the team will gain valuable insights on how the heart and circulatory system works in someone with severely damaged lungs.
Don completed his initial evaluation for lung transplant in May 2004 and several other problems were uncovered. The most serious was a radical drop in his blood platelet count. Biopsy of bone marrow from his hip found granulomas present, so it appeared that sarcoid was active and affecting his blood component production. Correction involved another prednisone run, with Don responding very favorably.
In addition, Don underwent testing for his Gastric Esophageal Reflux Disease (GERD). It revealed extensive damage to his esophagus and both the upper and lower esophageal sphincters, the �valves� that help move material down to the stomach and restrict material from moving back up. Some of the damage may be due to acid during reflux, but the doctors believe that most is due to sarcoid. This matches Don�s early complaints of difficulty swallowing and the early onset of GERD. After 15 years, another piece of the puzzle of sarcoid fell into place. Don had surgery to take a portion of the top of his stomach to wrap and tighten the lower portion of his esophagus. This Nissan fundiplication was very successfully completed in August 2004.
Don was listed for a double lung transplant at UPMC in July 2004, following his initial evaluation. At that time, lungs were allocated through a seniority system generally following an 18 to 24 month wait. Listing Don recognized his condition as terminal end stage sarcoidosis, with lung transplant the only therapy available to increase longevity or improve quality of life.
Don started a program of physical therapy to manage his cardiovascular condition and ensure he is in the best possible shape for transplant. He also began working with his psychologist on deep breathing techniques to delay the onset of short-of-breath episodes and help with panic control when he needs to breath himself out of one of these events.
In spite of these gains, Don�s condition continued to worsen. He was having a great deal of difficulty just getting through the normal requirements of daily living.
Don had always shown good improvement with application of steroids, suggesting that a significant portion of his breathing reduction was due to inflammation in the lungs, rather than structural damage. Prednisone improved the breathing, but not without high cost. The list of adverse impacts is long, but for Don the most significant was weight gain of 25 to 30 pounds. This additional weight equates to cruising around with a loaded backpack and can quickly negate any improvement in breathing response. The key to maintaining an acceptable life style for Don was to get the breathing benefit while avoiding the negative side effects associated with those drugs.
Dr. Dauber and Don decided to try using Methatrexate, a first generation chemotherapy drug, to improve his breathing instead of continuing treatment with prednisone. The drug was used for cancer because it targets fast replicating cells. In Don�s case, it was hoped it would reduce blood cells used in immune reactions, which also duplicated quickly. The approach had been tried in some patients who could not tolerate prednisone use with some success.
For Don, the results were incredible. He noticed dramatic functional improvement during the first month of use, and continued breathing gains throughout the spring and summer. His lung function improved from about 21% to 29% when he returned from his summer with the boys in 2005. This increase is enough to allow Don to maintain a relatively active lifestyle and take care of his day-to-day needs. Methatrexate can be very toxic to the liver. Don seemed to tolerate it well initially, but his liver enzymes were elevated at the summer�s end. Balancing the benefits of this treatment with its costs will be the next challenge for Don and his doctors.
We hope this help understand Don�s journey with sarcoid to this point. Although the literature focuses on the formulation of granulomas in tissues, Don and his doctors have learned some valuable insights on the real impacts of the disease. In Don�s experience, the active stage seems to manifest in six ways.
First, symptoms can present and be severe without the formation of granulomas, as shown by his initial dry eye syndrome. Second, non-granulomas tissue alteration is apparent, such as the �cobble stoning� and thinning evidenced in his nose. Third, granulomas are formed and active, causing inflammation and structural barriers to tissue function. Fourth, permanent, irreversible scar tissue develops. Fifth, nearby tissue systems suffer damage from non-sarcoid fibroid formation. This appears to be the case with Don�s esophagus. Sixth, sarcoid produces changes in body chemistry that influence other areas of the body and other organ functions. An example is Don�s problem with Vitamin D production and calcium absorption. This is indeed, a complicated and fascinating disease.
Although Don�s sarcoid could remit at any time, it is pretty clear that he is headed for his double lung transplant. The key is to delay as long as possible. Lung transplant is still a new and risky procedure. It does not have the history, success rate, or simplicity of other transplant procedures. About 1,000 are performed in the United States each year, and about 2,000 worldwide. About 4,000 people are waiting for the procedure in the U.S., and about 2/3 become too sick or die while waiting. There is no guarantee of regaining full lung function, the 5-year survival is about 50 %, and there is a limit to the longevity of the new lungs.
Lung transplant does not share the similarities enjoyed by other transplant procedures. The good news is that doctors are making dramatic improvements every day, which improve Don�s chances of making it to transplant, completing the procedure successfully, and enjoying both increase longevity and quality of life.
We are looking forward to seeing how all of this unfolds.
