Ambushed by Gratitude
April 8th is Cushing’s Awareness Day. The Cushing’s Support & Research Foundation is asking fellow “Cushies” today to share their medical journey and boost awareness of this rare disease. This is my story.
When we finally entered the right building on the grounds of the National Institutes of Health in Bethesda, the sight of patients and doctors from every corner of the world had an immediate impact. Seeing very sick children hooked up to medical devices and being wheeled around the hospital lobby by their families, we were reminded of how lucky we were to be where some of the best genetic research and medical care in the world was taking place. Under the guidance of Dr. Francis Collins, the NIH’s inspiring director who presided over the Human Genome Project, everyone around us seemed to understand they belonged to one big human family. My disease was just a small hiccup in the universe of the NIH.
Like most Cushing’s Syndrome sufferers dealing with the effects of hypercortisolism, I had been experiencing a variety of medical symptoms for decades before a diagnosis connected the dots. Seven surgeries later (the latest being heart stents in 2019), I’m still not out of the woods completely. “Primary bilateral macronodular adrenal hyperplasia (PBMAH)” is a rare form of Cushing’s Syndrome that is usually linked to a mutation of the ARMC5 gene. The majority of endogenous (from inside the body) Cushing’s cases are due to pituitary tumors. Women account for 70 percent of this type of Cushing’s. Severe forms of PBMAH represent a much smaller percentage of endogenous Cushing’s. Fewer than one-in-a-million. And the most common type of Cushing’s is exogenous (from outside the body), caused by excess steroid use.
Basically, the earlier Cushing’s elevated levels of cortisol are detected, the better the chances of avoiding serious illness and death. The mortality rate for untreated Cushing’s, when hypercortisolism isn’t being biochemically controlled, is roughly 5 years. Diabetes, osteoporosis, hypertension and heart disease are among Cushing’s main comorbidities.
Over the years, my long list of health problems included severe skin infections and rashes, hypertension, herniated and bulging discs, osteopenia and spinal degeneration, tachycardia, recurring saliva stones, mood swings, dizziness and lightheadedness, panic attacks, thrombosis and a mini-stroke (following an unsuccessful heart ablation). But it was the frequent cracking of ribs that finally led a suspicious nurse practitioner to recommend that I visit an endocrinologist, based on her hunch that hormones might be contributing to my soft bones.
My first endocrinologist had limited experience with Cushing’s. Most of his patients had diabetes or thyroid conditions. It wasn’t until after an MRI revealed multiple adrenal growths—and after my blood, urine and saliva tests confirmed elevated cortisol levels—that I first heard him use the term ‘Cushing’s Syndrome’. The doctor’s call came at home one night, confirming the diagnosis. I was confused. I didn’t have the classic pituitary-related Cushing’s with its symptoms of obesity, a moon face, or a hump at the top of the back. The surgeries I had experienced up ‘til then—a heart ablation, emergency vascular surgery and a submandibular gland excision—didn’t seem to fit any picture. But once the adrenal growths were discovered, I remembered that an angio-runoff CT done a few years earlier after a complicated heart ablation had detected the benign tumors. They were an incidental finding on a radiologists’ report so there was no follow up. My doctors were more concerned about blood clots, but at that time, I already had multiple adenomas on each adrenal gland.
The final test that my endocrinologist wanted me to do was a genetic test, to see if I was carrying a gene mutation linked to this adrenal-based Cushing’s. I tested positive with a variant of the gene mutation that had never been recorded before. The next step was surgery. My doctor warned me that I would need a highly-skilled surgeon so he petitioned for me to have an out-of-network surgical consult at UCSD. That’s when my Google searches on “adrenalectomies” went into overdrive. But it was a casual conversation with my wife’s yoga teacher that led me to the National Institutes of Health (NIH).
I found out there was a clinical study at the NIH on ACTH(pituitary)-independent Cushing’s and that if needed, participants would receive medical treatment after the study. I signed up right away and my wife and I flew to Washington, DC in June, 2018. It was exhausting, but after completing the two-week clinical study at the hospital in Bethesda and providing some 2,500 test results (my arms were bruised from all the needles), the decision was made to schedule my surgery in mid-August. The NIH had the most experienced surgeons in the country at performing bilateral adrenalectomies. My wife and I knew this was the most effective treatment for PBMAH, the form of Cushing’s Syndrome that was linked to my ARMC5 gene mutation. But we learned that a genetic inheritance was not the only trigger for the disease. There also needed to be a second mutation or second hit in the adrenals themselves, acquired somehow during one’s life. This second hit, like Cushing’s itself, is still a mystery.
The pre-surgery consult was straightforward and helped to reassure my wife. I had to sign another protocol for the NIH’s National Cancer Institute since they would be doing the surgery and retaining some of my adrenal tissue for their own research. After performing close to a hundred adrenalectomies without any surgical incidents, my doctors were confident all would go well. They planned to do a less-invasive laparoscopic procedure. We returned in August, expecting about a week’s stay in the hospital, but how much of life goes exactly as planned? What was normally a five-hour-or-so surgery lasted over eight hours. The surgeons removed both of my adrenal glands. Cushing’s had produced 12 tumors on each. But the laparoscopic instruments nicked my intestines in three places. A careful inspection and repair of the intestines had to be done outside the abdomen and it took several hours. The doctors were surprised by the complications. They explained later to my wife that my non-classic Cushing’s physique had proved challenging. They had discovered there was less space in my abdomen for their laparoscopic instruments to maneuver.
My immediate recovery in the ICU was complicated by repeated runs of ventricular tachycardia and a painful bloating. The bloating was assumed to be an ileus, something that’s not uncommon after abdominal surgery. I kept complaining about my swollen, distended stomach but my surgeons were confident the repairs to the intestines were successful. Three days later, after continuing abdominal pain and numerous blood transfusions to address low blood counts, a CT exam was ordered by the ICU and revealed a large hemorrhage in the abdomen. At the end of this test, I had another tachycardia episode. There was no crash cart handy in the CT exam room. But the ICU had found that an extra hit of metoprolol could bring my heart back to a safe rhythm. Only, I needed frequent doses. This sudden discovery of a large hemorrhage had my doctors from the National Cancer Institute scrambling to the hospital in the middle of the night. They tried for hours to drain the blood from the laparoscopic openings in my abdomen but the source of the hemoperitoneum proved hard to find. My head surgeon decided to make a large general incision below my left ribs.
Unfortunately, this second 8-hour emergency surgery began with one of the scariest experiences of my life. The general anesthetic hadn’t fully kicked in when I was rushed into the operating room. I found myself conscious on the operating table but unable to move a muscle or communicate. I was listening to the surgeons talking with each other as they began reopening the incisions from my first surgery. I was screaming at them but the screams were all in my head. I had no way of knowing how long I would be awake. Finally, the anesthetic took hold and the longest minutes of my life were over, a trauma I wouldn’t wish on anyone. The source of the internal bleeding turned out to be a small left adrenal artery that had also been nicked during my first surgery. In their effort to isolate it and clamp it, the doctors had to remove my spleen.
Back in the ICU, where I was laid up for a month, my heart rhythm continued to be erratic. Several medications had already proved ineffective. When they tried to move me back to the general endocrinology ward, I had a Code Blue as soon as I got there. The nurse just held my hand until the ICU staff arrived, a gesture I haven’t forgotten. I was familiar with Code Blues from all the treadmill tests that I had done in San Diego and back in Vermont, so I knew I had a complicated tachycardia. A failed six-hour heart ablation procedure in 2013 had traced the source of my arrhythmia from the left ventricle to my heart’s sinus node. Eventually, Dr. Needleman, one of the head cardiologists from the Walter Reed, the military hospital across the road from the NIH, was called over. Dr. Needleman visited several times. He suggested a catheterization to assess the extent of any cardiovascular blockage, since that was a possible cause of my continuing arrhythmia. Meanwhile, the ICU doctors had discovered an abscess in my abdomen. I needed another small operation for them to insert a drain.
The presence of an infection immediately ruled out any angioplasty but fortunately, Dr. Needleman was able to find the one medication that kept my tachycardia from recurring—a powerful drug called Sotalol. They told me to make sure I followed up with my cardiologist in San Diego as soon as I got home. When I finally did get that angioplasty, my doctor discovered that the left anterior descending artery was 100 percent obstructed. He put in two heart stents in September, 2019. As it turned out, this blockage was not the cause of my tachycardia. The electrical issue turned out to be separate from the plumbing.
After living for years and most likely decades with three-to-four times the regular amount of cortisol in my body, adjusting to a biologic dose of hydrocortisone was a hard transition. This daily hydrocortisone is what keeps me alive, along with my fludrocortisone and heart medications. Once the adrenals are removed, these steroids are necessary to treat the new condition of adrenal insufficiency, which has another name—Addison’s Disease. But unlike the body’s natural way of adjusting its cortisol levels when needed, steroid medications only provide a baseline. The pituitary gland has to adjust to the missing adrenal glands. A social worker at the NIH warned me that recovery from my adrenalectomies and from years of being jacked up from hypercortisolism would feel like coming off a heroin addiction. Cushing’s and post-Cushing’s “really mess with your head,” she said. She was right. My fatigue in the ICU was incredible. With no more excess cortisol sending flight/fright/freeze hormones coursing through my body, I could barely keep my eyes open. Day and night were barely distinguishable.
Tubes were stuck down my throat and nose at various times before the hemorrhage was discovered. I threw up plenty of bile. At times, I really just wanted it all to end. I told my wife I was okay with letting go. During these lows, what really kept me going was an awareness of the incredible dedication of the NIH’s ICU staff. I never imagined this level of medical care existed anywhere. Both the head surgeon and anesthesiologist made a point of visiting me to apologize for the unexpected complications. Their frustration and compassion were palpable. I kept telling my surgeon how grateful I was that when things went wrong, he was there. I meant it. His skill and agility had saved my life several times.
Robert Frost has a famous poem, “Acquainted With The Night,” about a figure who is out walking in the rain and outwalks “the furthest city lights.” Too often, the Cushing’s experience, like many challenging health issues, can involve depression and a slow disintegration of relationships and emotional support. My wife and children had witnessed a lot of heightened cortisol behavior over the years, behavior that I didn’t even understand, but they still had the patience to put up with me. After the surgeries, they gave me the time and space to rebuild and reconnect, something no Cushing’s survivor can take for granted. The psychiatrist who saw me at the NIH prescribed the anti-depressant Mirtazapine and it helped me to regain my appetite and to cope with some PTSD, but I stopped taking it a few months after returning home because of its side effects. Physical rehab is ongoing. When I first got home, I had to use a chair in the shower and a cane to get around but after a few months, most of my basic mobility returned. The reality of post-surgery Cushing’s is that physical activity is often different and more limited. That’s a result of the cumulative damage done over many years. Heart and bone issues continue to slow me down. Fatigue comes in daily waves. Chronic back pain and an incisional hernia in my abdomen make exercise more challenging. The removal of my spleen has also meant that I have to be more vigilant about infections.
There’s an emotional part of this journey that can’t be shared with anyone, not even one’s spouse and closest family. The idea that surgery is “the cure” for Cushing’s should come with a big caveat. Yes, surgery does stop the overproduction of cortisol. But what it doesn’t address is what the undiagnosed disease has done, over years, to many parts of the body. There’s a slow adjustment to a new normal. Not every day is a good day, but the smallest pleasures and gestures can be enough to keep one going and feeling grateful. Mindfulness has played an important part in the recovery process for me. The Cushing’s Support & Research Foundation is (csrf.org) also a great place for “Cushies” to share helpful information. Since there is a genetic link to adrenal Cushing’s, I needed to get as many family members tested as possible. Four of six siblings and several offspring have tested positive for the ARMC5 mutation, but so far no one else has acquired the second hit triggering the disease. My 92-year-old mother tested negative.
Now the Covid-19 pandemic is shining an even more dramatic spotlight on human disease and vulnerability. There’s a sense of ambush that can be overwhelming, whether one’s having to face a rare disease or a novel coronavirus. The difference with today’s pandemic is we’re all being humbled together. Seeing the dedication of healthcare workers all over the globe, I know I can’t help feeling an immense gratitude and respect for science again. It’s important to recognize the mystery at the center of all our lives. As the novelist Norman MacLean wrote, “we can love completely, without complete understanding.”
One more crucial thing needs to be underlined in all of this. Without the Affordable Care Act’s subsidies and the free healthcare I received in exchange for participating in a clinical study at the National Institutes of Health, I would have been financially ruined. Medical costs are the leading cause of personal bankruptcy in the USA. Our federal government’s support made all the difference.
