Vicki Perez first noticed she was gaining weight back in October 2015 – and in less than 12 months she had ballooned from 9st 4lbs to 12st 4lbs.
Her face began to bloat and her feet swelled so large that she couldn’t even wear shoes.
The shocked mum-of-one learnt she had Cushing’s disease, which is caused by high cortisol levels.
But it wasn’t until last January that she found out it was due to a deadly tumour on her pituitary gland.
After two surgeries to have the tumour removed, Vicki has finally began to recover and is sharing her story to raise awareness.
Vicki, who is currently studying to become a dental hygienist in Florida, said: “The gym and fitness has always been my passion.
“I train every day. So I was shocked when I noticed my face was getting puffy and my hands and feet were swelling like water retention.
”They were so swollen I had to wear men’s shoes and my clothes didn’t fit.
“I felt bloated all the time and I didn’t want to leave the house.
“I continued working out at the gym not realising I was causing damage.”
In February 2016, she noticed strange rashes on her hands and body and was rushed to hospital in anaphylactic shock.
Vicki said: “When I saw the rashes I thought it was an allergy but the next day I work up and I couldn’t breathe.”
Despite numerous tests, medics continued to deny there was anything wrong.
The fed-up mum decided to see a Cushing Disease specialist at The University of Alabama.
She said: “I took my MRI and CT scan and they saw the tumour was in my brain.
“My hospital had completely mis-read it.”
After further tests, doctors were able to confirm it was a brain tumour.
She said: “I’m not sure how long I had the tumour. I thought I was going to die.”
After an initial surgery to remove the tumour on the left of her pituitary in June, and a second op to remove a second tumour in July, Vicki’s health began to improve.
She said: “Two days after the first surgery and my feet were normal.
“I was excited, I felt great, I felt amazing but a month later I was back in hospital for the second surgery.
“The recovery was hard, it hurt to move. I had to teach to walk again and how to run again.
“I was angry and I was crying all the time. It messes with your hormones and makes you think you are crazy.”
The road to recovery has been long and after eight months, Vicki still has a way to go.
But now her weight is down to 10st 10lbs and she is able to wear shoes and her normal clothes again.
She said: “It’s a slow process.
“I am not 100% back to normal and any emotional stress can be dangerous for me and cause me to go into shock.
“But I am starting to see improvements and I’m just focusing on my son and school.”
Vicki added: “My son really struggled with seeing me so sick but now I am able to spend time with him, he is so much better and not acting out at school.
“He’s the most important thing, I couldn’t have got through this without him.”
Donelle Trotman was only in his 30s when his health suddenly took a strange and frightening turn.
He was rapidly gaining weight — more than 100 pounds in one year. His upper torso was getting bigger, but not his legs. And he felt overwhelmingly tired.
“My body just started changing,” the Staten Island, New York, native told TODAY as part of a three-day series, “Medical Mysteries,” looking at people who have recovered from rare diseases.
It was especially puzzling because Trotman had never had weight issues before.
In school, Trotman was never a skinny kid, but he wasn’t overweight. He loved sports, playing both basketball and baseball.
So as he entered adulthood, he was active and in good shape. Then, three years ago, he suddenly began to gain weight.
“It was just specific places: My stomach, under my arms, my back of my neck, my face, the bottom of my back,” Trotman said. “My legs stayed the same for a long time.”
To lose the extra pounds, Trotman began running, working out and lifting weights. Nothing worked.
In the span of one year, Trotman gained more than 120 pounds, topping the scale at 366 pounds, twice the amount he weighed at 18.
“I doubled, like, I got a whole person on me,” he said.
There were other alarming changes. Trotman became so easily tired that he’d get out of breath just by chewing food. When he woke up seeing double three months ago, he knew it was time to go to the hospital.
Doctors ran a flurry of tests, but the results offered few clues, leaving everyone puzzled. Then one day, an intern noticed stretch marks all over Trotman’s body, a telltale sign that solved the mystery. Trotman had Cushing’s disease, a rare condition that affects fewer than 50,000 people in the U.S. every year.
Trotman’s weight gain was being caused by a tiny tumor at the base of his brain, prompting his body to produce too much of the hormone cortisol. He had some of the classic symptoms: major weight gain in his upper body, skin problems and acne, plus fatigue.
Dr. John Boockvar and Dr. Peter Costantino at New York’s Lenox Hill Hospital discovered Trotman had steroid levels ten times higher than normal.
“In Cushing’s disease, the pituitary gland has a small growth that releases a single hormone that causes the body to live with very high levels of steroids. The skin becomes very thin. You get increased acne. You can grow hair. You start sweating. You gain a lot of fat,” Boockvar said.
There was no time to lose: Untreated, Cushing’s is a fatal disease. Trotman was getting close to the point where doctors would not be able to reverse the changes, Costantino noted. He underwent surgery two weeks ago and had the growth successfully removed.
“The tumor was no bigger than the size of the tip of my pen,” Boockvar said. “And that something so small can cause a man to grow to 350 pounds and absolutely destroy his life is rather remarkable.”
These days, Trotman is feeling much better. His main focus now is to lose the weight he gained and regain an active lifestyle. He hopes to play basketball with his son soon.
“It’s wonderful. Every day it’s just like I feel a little stronger,” he said.
Doctors say Trotman will continue to lose weight and can shoot hoops with his son in about three months. There is an 8-10 percent chance the disease could come back, but Trotman said he knows what to look for now.
One of the reasons Trotman wanted to share his story is so others might recognize the symptoms of Cushing’s, although doctors stress it is a very rare illness.
This article was posted by long-time message board member Samsmom about her daughter Sam.
AIM senior Samantha Edgar doesn’t let health issues hold her down
SNOHOMISH — Samantha Edgar, 17, has faced limitations with serious health issues, including Addison’s disease and osteoporosis. But the AIM High School senior is overcoming them in amazing ways.
Question: Your school administrator says you come to school every day with a smile despite some serious health challenges.
Answer: I’ve had adrenal deficiency since I was 4 years old because my adrenal glands were infected with a lot of tumors. The guy who diagnosed me (Dr. Constantine Stratakis) I’m actually doing an internship with this summer at the National Institutes of Health. It’s pretty nerve-wracking. It will be fun.
Q: Wow. How did you end up with that?
A: (My mom and I) were talking about asking for an internship, and joking that he’d probably just say apply, like he normally does. … I asked “if I can maybe shadow you this summer and, um, hang out?” He was like, “Of course.” All the interns just stared at me. (Most of them are in medical degree programs) who’ve applied five times.
Q: What do you hope to get from it?
A: I’m hoping to understand my own thing a little bit more afterward, and then have opportunities after that stem from it. It’ll be interesting at least.
Q: Your mom is planning to rent an apartment and live out there with you.
A: I’m still her baby. … If anything, though, it’s the best place to have an issue.
Q: Your last life-threatening experience was when you were 10. You had the flu and were unable to keep down your medications, which you need to take three times a day. What other issues are you susceptible to?
A: If I am to break a bone or something I could go into what’s called adrenal crisis. (The body) goes into shock.
Q: And yet …
A: I do mounted archery, which is horseback archery. My mom is pretty much nervous every time I go down the course because I’m probably going around 30 (mph) and shooting an arrow at a target or five.
Lydia, a 28-year-old Florida resident, wife, and mother of two, first noticed a drastic increase in her weight around Easter of 2022 in a family photo. She was shocked by how different she looked despite not making any drastic changes to her diet. “While those I loved would say ‘you look beautiful’, to me I looked like a completely different person,” recalled Lydia.
When Lydia asked her mother, Jeanne, if she had noticed her weight gain, her mother observed that some days Lydia’s face looked swollen. They both recognized that this was not normal, and decided, like many pituitary patients, to make an appointment with a primary care provider. “I remember her saying to me ‘something is wrong with me’ and ‘something is not right’”, recalled Jeanne.
Lydia’s weight gain was most noticeable in her face and around her abdomen. “She was exercising all the time and trying to watch what she ate and cut down on sugars,” said Jeanne. “But she kept putting on more weight. We knew something was not right.”
Lydia scheduled the first of what would be many doctor appointments hoping for answers. Her primary care provider recognized that her rapid weight gain was abnormal and ordered standard blood work. When that blood work came back normal, her doctor referred her to an endocrinologist and to her OBGYN.
In addition to her weight gain, Lydia had begun developing other symptoms including excessive sweating day and night, severe acne, hair loss, hair gain on her face, insomnia, thin skin, and brittle nails. “The worst symptom was the constant feeling of fight or flight,” recalled Lydia. “I always felt on edge and was letting things bother me.” Lydia would later learn that this feeling was caused by the drastic increase of cortisol in her body.
When Lydia first met with her OBGYN to address her weight gain and the overall feeling that something was wrong with her body, her concerns were quickly dismissed. “He told me ‘You’re almost 30 and you’ve had two kids, no wonder you feel the way that you do,’” said Lydia. “He blew me off and told me that I needed more diet and exercise. He didn’t order other tests.”
Figure illustrates the drastic physical changes and symptoms caused by a pituitary tumor and Cushing’s disease. (Medical illustration by Mark Schornak, MS, CMI)
A couple of months later, Lydia went to see an endocrinologist. Despite watching her calories and exercising almost every day of the week, she had gained more weight and felt more miserable. When her labs came back, Lydia’s cortisol levels were so high that the endocrinologist thought there had been a lab error. A 24-hour urine test confirmed that Lydia’s cortisol levels were off the charts. “I was in full panic mode at this point,” said Lydia.
Lydia could not get back in to see her endocrinologist in a timely manner, so she ended up back at her primary care provider’s office. Her primary care provider suggested that it could be a tumor on her adrenal glands and that it was probably not in her brain since she was not experiencing headaches. A CT scan of the adrenal glands came back clean. “I remember telling my primary care doctor ‘I just don’t feel normal’”, recalls Lydia. “His response was ‘everyone’s normal is different’ and I told him ‘I’m not normal for me.’”
At this point, Lydia was desperate for answers. “All these doctors were telling me it could be in my head or because I was almost 30,” said Lydia. “I kept getting shut down. I told friends and family that there was something seriously wrong with me and no one was believing me.”
Finally, a friend sent Lydia information on another endocrinologist in Florida. “He was the first doctor to care about me,” said Lydia. “He said, ‘I’m so sorry you’ve been treated like this. Everyone you have seen before me is an idiot.’” More specific bloodwork and an MRI confirmed that Lydia had a macroadenoma, a benign tumor in the pituitary gland, and Cushing’s disease. After the diagnosis, Lydia was told that she would need to have the tumor removed. “He told me, ‘Find where you want to go and I’ll refer you,’” said Lydia.
Lydia and her mother Jeanne began searching online for the right pituitary tumor surgeon. “Once I realized how serious it was, we started researching different doctors,” recalled Jeanne.
Both Lydia and Jeanne spent time researching different doctors, but could not find a doctor that had experience treating Cushing’s disease. “We researched all kinds of surgeons to find the best one,” said Jeanne. “Then we found Dr. Oyesiku. He understood Cushing’s disease. That was important to me.” Jeanne is the one who found world-renowned pituitary tumor surgeon, Dr. Nelson Oyesiku. “I called him and said, ‘I have a 28-year-old daughter with a pituitary tumor and Cushing’s disease and I need you to operate on her,’” said Jeanne.
Dr. Oyesiku has performed over 4,000 pituitary tumor operations and is currently the Chair of the Department of Neurosurgery at UNC Health. “Cushing’s is a rare disease so not many surgeons have a lot of experience with the various technical nuances required to achieve a high likelihood of cure and reduce the incidence of re-operations and complications,” said Dr. Oyesiku.
Since Lydia lives in Florida, her initial consultation with Dr. Oyesiku was over Zoom. “I Zoomed with another local neurosurgeon and I was going back and forth,” said Lydia. “Dr. Oyesiku told me that he looks at the whole picture and what the tumor is doing to you. He said that he wanted to get the tumor out and then cure the Cushing’s disease.” Jeanne was also with her daughter during the initial Zoom appointment with Dr. Oyesiku. “I couldn’t find anyone else that had that background knowledge for Cushing’s disease,” said Jeanne.
Dr. Oyesiku ordered more labs. “He told me ‘I want to measure twice and cut once,’” recalled Lydia. “That phrase is something my dad always said growing up and that felt like fate. So that made my decision for me and made me want to see him.”
After her initial consultation with Dr. Oyesiku, both Lydia and her mother felt confident that they had found the right surgeon. Lydia met with Dr.Oyesiku in December of 2022, then had her surgery on January 23, 2023. “I called UNC and made sure that I could go in with her and stay while she was recovering,” said Jeanne. “We had contacted a different hospital early on, and I would have had to drop her off and not see her until after her surgery and only during visiting hours.”
Patient coordinator David Baker, who also played an important role in Lydia’s care, helped Lydia and Jeanne find a local hotel for them to stay in before surgery at a discounted rate. After surgery, UNC Health endocrinologist Dr. Atil Kargi spoke with Lydia and her mom to help them understand the severity of Cushing’s disease and the importance of monitoring Lydia closely. “Dr. Kargi and David Baker really helped us to truly understand Cushing’s disease,” said Jeanne.
Jeanne was impressed with the level of patient care that Lydia experienced during her surgery at UNC Health. “Lydia had her own nurse that would text me or call me to let me know how things were progressing.” Jeanne said. Jeanne explained that the same nurse was with her daughter going into the surgery and when she woke up after the surgery. She was also able to stay with Lydia in the hospital while she recovered from the surgery. “UNC was such an uplifting place. All these residents, they all love what they’re doing,” said Jeanne.
Lydia stayed in the hospital for six days so Dr. Oyesiku and the endocrine team could monitor her levels. “I was in the normal range, and then I started to tank,” said Lydia. “I had read that a lot of patients are sent home right after surgery. If they would have sent me, I would have been adrenally insufficient.”
Lydia also expressed gratitude for ENT surgeon, Dr. Brian Thorp. “During my surgery, Dr. Thorp also repaired my deviated septum,” said Lydia. “Even after surgery when I was home miles away in Florida, he was always available to me. I appreciate Dr. Oyesiku and everyone at UNC,” said Lydia. “I can’t imagine going anywhere else for this. Dr. Oyesiku truly saved my life.”
After her discharge, Jeanne drove Lydia back to Florida. “Dr. Oyesiku followed-up after surgery with the Cushing’s disease treatment,” said Jeanne. “Our local endocrinologist could not believe how fast she recovered.” Jeanne also noted that she was always able to get ahold of Dr. Oyesiku, Dr. Thorp, or David Baker to answer her questions. “You feel like you’re their only patient,” said Jeanne. “We are 8-9 hours away, and it didn’t feel like it.”
After Lydia weaned off of her medication, she started to lose weight, her face changed, and her body started to feel “normal” again. “My biggest symptom that I am thankful went away was my literally going crazy feeling,” said Lydia. “I am very thankful that I was able to catch it early enough so that this awful disease didn’t leave me with any lifelong complications.”
Lydia, like many pituitary tumor patients, still has lingering feelings of anxiety and frustration with the long road from initial symptoms to diagnosis. It takes the average pituitary tumor patient 5-8 years to be properly diagnosed. Lydia and her mother were extremely proactive and still spent 18 months looking for answers. Lydia went to her primary care provider, her OB, a second OB, and two endocrinologists before she had a proper diagnosis. “Cushing’s disease can mimic many other vastly common medical disorders and is often misdiagnosed or mistaken for something else such as diabetes, hypertension, obesity, infertility, depression, or autoimmune disorders,” said Dr. Oyesiku. “Making the diagnosis requires expert clinical acumen supported by sophisticated medical tests, and many of these tests have to be repeated to confirm the diagnosis.”
Because Cushing’s disease is so rare, many of the providers that initially saw Lydia dismissed it. After her surgery, Lydia returned to her OB office in Florida for her annual exam and was seen by the OB that told her that her symptoms were “all in her head”. “I told him, ‘Remember that you blew me off? I had a brain tumor that caused Cushing’s disease,’” said Lydia. “He told me that in all his years practicing, he had never had a patient with an endocrine disorder caused by a pituitary tumor.”
Lydia’s story and other pituitary tumor patient stories serve as a reminder that while Cushing’s disease is rare, it is worth ruling out when a patient complains of these symptoms. “Part of the problem is that people just do not have access to good doctors,” said Jeanne. “If we had not had that endocrinologist, I don’t know how much longer it would have taken. It makes me sad that other women and even men can have it for so long because they cannot figure out what is going on.”
Both Jeanne and Lydia are thankful that the surgery was a success, but the symptoms and long road to a diagnosis left Lydia with a few emotional scars. “I’m fine and healthy on paper, but still battling the mental aspects and the toll it took on me,” said Lydia. “Sometimes I feel resentful because it took away a year and a half of my life. I feel very blessed to be on the other side of this disease, but I’m ready to not be a patient anymore.”
COLBY — As a junior in high school, Justin Kennedy began getting sick and missing school on a regular basis.
He was fatigued, unable to sleep at night and gaining weight rapidly. He also was unable to focus on his school work and began experiencing memory loss.
After several doctor’s appointments, Justin was diagnosed with Cushing’s disease, a rare disorder caused by excessive cortisol levels resulting from a tumor on the pituitary gland.
At the time of Justin’s diagnosis, his younger sister, Jessica, also was showing symptoms of the endocrine disorder. Her diagnosis came at the same time.
“I think they both have had symptoms since they were little,” said their mother, Judy Kennedy.
Other symptoms include a round facial shape, flushed cheeks, excessive hair growth, skin discoloration and depression, Judy Kennedy said.
Weight fluctuation is uncontrollable. Weight is gained at a high rate, despite diet, exercise and other efforts, Jessica Kennedy said.
“The weight has a mind of its own,” she said.
The diagnosis, following many doctor’s appointments and tests, came last November. Today, Justin, 19, keeps busy with a job at McDonald’s, and Jessica, 15, is a freshman in high school taking online classes.
One of the most bothersome symptoms of the disease is the toll it takes on the sleeping schedule. Her children often are unable to sleep until early morning, Judy Kennedy said.
“When there was a chance for her to do online high school, it was such a relief,” she said. “We don’t have to worry about what time she starts her school work.”
Appetite fluctuation is another side effect. The two go through phases where they have healthy appetites, then hardly eat at all, she said.
That’s because the disease puts their bodies through various cycles, which can last for less than a day or for months at a time, Judy Kennedy said.
It’s predicted that about 15 people in a million are diagnosed with the disorder, which can make it difficult to find support and get answers, she said.
The family, however, discovered an online support group and has enjoyed the opportunity to communicate with other families in similar situations.
“I honestly do not know where our family would be if I wouldn’t have found that support group,” Judy Kennedy said. “Even though it’s still awful, it’s better to know that other people have the same symptoms.
“There are people on the streets who have this and have no idea,” she said. “And their doctors don’t either.”
Both teenagers also are preparing for surgery. In mid-May, the family will travel to Houston, where the siblings will have the tumors removed from their pituitary glands. This is expected to resolve the hormonal imbalances, Judy Kennedy said.
Cushing’s survivor hopes to make others aware of illness
July 16, 2007
Denise Potter, who works at the Christus Schumpert Highland Hospital as a mammographer, has Cushing’s disease which affects the performance of the pituitary gland. Greg Pearson/The Times 07.12.07 (Greg Pearson/The Times)
Denise Potter never connected her rapid weight gain to a disease or her high blood pressure to anything but her weight.
The hump on the base of her neck was a feature she supposed came with the weight.
And although the roundness and redness in her face was odd, she never connected it to the other symptoms she was having or the fatigue, heart palpitations and swelling she begin to experience in her 30s.
And neither did a stream of doctors over the decade when Potter’s symptoms related to Cushing’s disease began. It would take another two years after diagnosis to find a treatment that worked.
“You can see my face getting real round in this picture. They call that a ‘moon’ face,'” said Potter, 42, looking over a handful of photos that showed the progression of the disease, diagnosed when she was 37. “You learn one of the best ways to show doctors the changes happening is to bring pictures with you to appointments.”
Potter, who works as a mammographer at Christus Schumpert Highland Hospital in Shreveport, calls herself lucky to be working and functioning in life as well as she is.
“I only hope by telling my story someone else can be diagnosed sooner,” she said.
According to the National Institutes of Health, Cushing’s disease is a form of Cushing’s syndrome — caused by the overproduction of cortisol over a long period of time.
Cortisol is a hormone produced by the adrenal glands and essential to many of the body’s cardiovascular and metabolic functions. It also helps the body respond to stress.
Cushing’s disease is specifically caused by a hormone-producing tumor on the pituitary gland.
About 1,000 people each year in the U.S. are told they have a form of Cushing’s, but those affected think many more cases go undiagnosed.
“Making people aware of the disease is the name of the game,” said Louise Pace, founder and president of Cushing’s Support and Research Foundation Inc., based in Boston, Mass. “There’s a chance for 100 percent recovery if you get diagnosed soon enough. But not too many do. Out of the 1,000 members I have, only two are 100 percent cured and they both got diagnosed within a year. It took me five years. The longer you go, the more damage it does.”
In addition to feature changes, left undiagnosed the disease can cause associated diseases such as diabetes mellitus, hypertension and osteoporosis.
“It’s such a difficult disease to catch. It’s different from one patient to another. And for a lot of people it cycles. Doctors miss it unless they do particular tests,” said Warren Potter, Denise’s husband, whose gained a strong medical knowledge about the disease. “It’s amazing how much you learn about medicine when you have to.”
Warren Potter, originally from New Zealand, has lived in the states now for about eight years and met Denise online by chance while he was living in Tennessee.
He gives luck a large role in his wife’s diagnosis.
“At one stage she found a doctor who wasn’t too far out of medical school,” said Warren of the young doctor his wife went to in 2003 for her high blood pressure that would diagnose the disease.
“He was very worried about my blood pressure being 215 over 105 (a healthy adult is around 120/80) and began asking other questions,” said Potter, who’d also experienced an extreme, rapid weight gain. “I’d always been around 135 pounds but in my 30s my weight jumped up to 300 pounds. I knew my eating hadn’t changed enough for that much weight gain.”
Headaches and later migraines that Potter experienced throughout her life also began to make sense with a Cushing’s diagnosis. More than one eye doctor thought there might be something else going on there, but were looking on the brain not the pituitary gland where a tumor that causes Cushing’s disease sits.
A 24-hour urine collection was enough to prove that Potter’s cortisol levels were high, but not enough to pinpoint why.
Cushing’s syndrome can be caused by myriad of reasons, according to the National Institutes of Health.
A person who takes excessive amounts of steroids for inflammatory diseases or other reasons can suffer the symptoms of Cushing’s. Also a number of things can go wrong in the precise chain of events needed to produce cortisol.
It all starts with the hypothalamus that secretes corticotropin releasing hormone that tells the pituitary to produce adrenocorticotropin, which then stimulates the adrenal glands to produce cortisol that’s dumped into the bloodstream.
Potter’s tumor was confirmed with a magnetic resonance imaging of the pituitary.
The cure is surgical resection of the tumor, states the NIH, with about 80 percent success rate.
Potter’s first surgery done at Vanderbilt University Medical Center in Nashville, Tenn., failed as did another attempt to shrink it with radiation.
Potter and her husband took a bold step they both felt was her best chance for a cure.
“We moved to Oregon where the best specialist in the country was,” said Potter, who was treated by Dr. William Ludlam, an endocrinologist. “I liked him immediately. He thought maybe my first surgery hadn’t been done quite right and wanted to try it again.”
When a second surgery done at the Oregon Health and Science University also failed, Potter and her doctor made the decision to remove both her adrenal glands in 2005.
The surgery took away her body’s ability to produce cortisol, which is now replaced orally. She’s also taking other hormones that are no longer produced by a damaged pituitary.
“On the endocrine aspect it’s all guess work to the levels of medication that works to make her feel relatively normal. We learn to tweak it when she needs to,” Warren said. “We’re lucky in a lot of ways that the disease was caught in time. She did not get the cure from the tumor being removed and she has other symptoms, but they can be treated.”
The Potters moved to Shreveport late in 2005 to be closer to her parents. An endocrinologist follows her hormone replacement therapy.
“I’ve lost 70 pounds, but because my age and the length of years I had the disease, my recovery will be slower,” said Potter, who takes 10 pills and one injection daily to manage her hormones and diabetes. “It’s also caused some memory loss that I still can’t access.”
Potter and others affected by the disease think experts are underestimating the number of cases.
“I see people all the time that look they are walking around with similar symptoms as I use to have,” she said. “I hope this makes people more aware of the disease.”
Final Diagnosis: ACTH-dependent Cushing’s syndrome • ectopic ACTH syndrome
Symptoms: Edema • general fatigue • recurrent mechanical fall
Medication: —
Clinical Procedure: —
Specialty: Critical Care Medicine • Endocrinology and Metabolic • Family Medicine • General and Internal Medicine • Nephrology • Oncology
Objective:
Unusual clinical course
Background:
Adrenocorticotropic hormone (ACTH)-dependent Cushing’s syndrome (CS) secondary to an ectopic source is an uncommon condition, accounting for 4–5% of all cases of CS. Refractory hypokalemia can be the presenting feature in patients with ectopic ACTH syndrome (EAS), and is seen in up to 80% of cases. EAS can be rapidly progressive and life-threatening without timely diagnosis and intervention.
Case Report:
We present a case of a 74-year-old White woman who first presented with hypokalemia, refractory to treatment with potassium supplementation and spironolactone. She progressively developed generalized weakness, recurrent falls, bleeding peptic ulcer disease, worsening congestive heart failure, and osteoporotic fracture. A laboratory workup showed hypokalemia, hypernatremia, and primary metabolic alkalosis with respiratory acidosis. Hormonal evaluation showed elevated ACTH, DHEA-S, 24-h urinary free cortisol, and unsuppressed cortisol following an 8 mg dexamethasone suppression test, suggestive of ACTH-dependent CS. CT chest, abdomen, and pelvis, and FDG/PET CT scan showed a 1.4 cm right lung nodule and bilateral adrenal enlargement, confirming the diagnosis of EAS, with a 1.4-cm lung nodule being the likely source of ectopic ACTH secretion. Due to the patient’s advanced age, comorbid conditions, and inability to attend to further evaluation and treatment, her family decided to pursue palliative and hospice care.
Conclusions:
This case illustrates that EAS is a challenging condition and requires a multidisciplinary approach in diagnosis and management, which can be very difficult in resource-limited areas. In addition, a delay in diagnosis and management often results in rapid deterioration of clinical status.
COLBY — As a junior in high school, Justin Kennedy began getting sick and missing school on a regular basis.
He was fatigued, unable to sleep at night and gaining weight rapidly. He also was unable to focus on his school work and began experiencing memory loss.
After several doctor’s appointments, Justin was diagnosed with Cushing’s disease, a rare disorder caused by excessive cortisol levels resulting from a tumor on the pituitary gland.
At the time of Justin’s diagnosis, his younger sister, Jessica, also was showing symptoms of the endocrine disorder. Her diagnosis came at the same time.
“I think they both have had symptoms since they were little,” said their mother, Judy Kennedy.
Other symptoms include a round facial shape, flushed cheeks, excessive hair growth, skin discoloration and depression, Judy Kennedy said.
Weight fluctuation is uncontrollable. Weight is gained at a high rate, despite diet, exercise and other efforts, Jessica Kennedy said.
“The weight has a mind of its own,” she said.
The diagnosis, following many doctor’s appointments and tests, came last November. Today, Justin, 19, keeps busy with a job at McDonald’s, and Jessica, 15, is a freshman in high school taking online classes.
One of the most bothersome symptoms of the disease is the toll it takes on the sleeping schedule. Her children often are unable to sleep until early morning, Judy Kennedy said.
“When there was a chance for her to do online high school, it was such a relief,” she said. “We don’t have to worry about what time she starts her school work.”
Appetite fluctuation is another side effect. The two go through phases where they have healthy appetites, then hardly eat at all, she said.
That’s because the disease puts their bodies through various cycles, which can last for less than a day or for months at a time, Judy Kennedy said.
It’s predicted that about 15 people in a million are diagnosed with the disorder, which can make it difficult to find support and get answers, she said.
The family, however, discovered an online support group and has enjoyed the opportunity to communicate with other families in similar situations.
“I honestly do not know where our family would be if I wouldn’t have found that support group,” Judy Kennedy said. “Even though it’s still awful, it’s better to know that other people have the same symptoms.
“There are people on the streets who have this and have no idea,” she said. “And their doctors don’t either.”
Both teenagers also are preparing for surgery. In mid-May, the family will travel to Houston, where the siblings will have the tumors removed from their pituitary glands. This is expected to resolve the hormonal imbalances, Judy Kennedy said.
When Amber Denney bought life and critical condition insurance from Bank of New Zealand, she thought it would help pay her mortgage, if she ever fell so seriously ill she could not work.
But when she contracted a debilitating and life-threatening brain tumour, BNZ’s insurance proved worthless.
Denney was diagnosed with a pituitary tumour in 2020, and underwent brain surgery, several years after symptoms emerged, including rapid weight gain, muscle loss, brain fog, fatigue, depression and severe headaches.
But despite her neurosurgeon saying Denney fitted the criteria to succeed in her $52,000 claim, BNZ Life Insurance declined the claim, after taking six months to come to a decision.
As a result of her illness, Denney was unable to work, and lost the home she bought when she was 21. She wonders to this day, if the insurance money would have allowed her to save it.
At a time Denney, now aged 26 and renting in Hamilton, was losing her home, banks were working to make sure people did not lose their homes in the economic disruption of the Covid-19 pandemic.
BNZ refused to comment on whether the insurance it sold had failed Denney in her time of need. But Partners Life, which bought BNZ Life Insurance after her claim was decided has promised to take a fresh look at her case.
Denney has yet to concede defeat to her insurer, and may take a claim to the Banking Ombudsman claiming service failure by BNZ, and the Insurance and Financial Services Ombudsman over the decision by BNZ Life to decline her claim.
But she says she is speaking out to warn others that their insurance may be much more limited than they think, and fail them at their time of direst need.
Her cluster of debilitating symptoms resulting from the pituitary tumour is called Cushing’s Disease.
“I’m not the only Cushing’s person who has had this trouble with the insurance companies,” she says.
“The endocrinologist told me about all the other people who have been struggling,” says Denney, who before her illness was fit enough to climb mountains and shear sheep.
There were several critical failures of the critical condition insurance BNZ sold her, according to Denney and insurance lawyer Tim Gunn, who is helping Denney pro bono.
While the BNZ Life policy did cover pituitary tumours, there were two caveats.
First, it had to produce neurological damage, and functional impairment, which a specialist considered to be permanent.
Second, it had to be removed by a craniotomy, surgery that requires cutting through the skull.
Gunn says the requirement for a craniotomy is unreasonable, unfair and outdated.
In recent decades the primary surgical option for pituitary tumours was not a craniotomy, but keyhole surgery, which was used to save Denney’s life.
“The method of surgery to remove the tumour was the most current and accepted method,” Gunn said, and was now used in 95% of pituitary tumour surgeries.
Craniotomy surgery carries a higher risk and was not as effective, he says, and requiring it was unreasonable.
But Denney and Gunn say the policy was also fatally flawed because it could not do what she was sold the policy for in the case of a policyholder contracting a pituitary tumour.
It takes so much time for medical specialists to conclude that damage is permanent after an operation, that paying a claim in time to help save a policyholder’s home is not possible, Denney maintains.
One communication from BNZ Life dated September 2021, told Denney that despite her being diagnosed in July 2020, operated on in September 2020 during the level 4 lockdown, proof of permanency had still not been established.
Denney says she has been left with permanent memory loss, severe headaches, and other symptoms of Cushing’s Disease, and can’t understand why BNZ Life is not paying.
“It’s blatantly obvious. I’m struggling. I just don’t get it. It’s extremely unfair,” she says.
“BNZ has failed in their responsibility to ensure that Ms Denney was adequately protected,” Gunn says.
Denney says one horrified BNZ worker told her not to let the bank win.
“She advised me, it was her exact words, ‘If you have the energy to fight, fight them until the end’,” she says.
BNZ would not answer the allegations, saying only that all BNZ Life’s records had moved to Partners Life, though Denney remains a BNZ customer.
BNZ had sold the business to Partners Life, which has in turn been sold to Japanese insurer Dai-ichi Life.
Partners Life has promised to review the decision taken by BNZ Life to turn Denney’s claim down.
It said BNZ Life’s conclusion was that while the condition Denney suffered was most certainly traumatic, it was not covered under the definitions in the policy wordings.
Critical condition (often called critical illness) insurance was not designed to cover every possible health emergency, it said, but did not comment on the specific allegations Denney and Gunn have made, as it had only been alerted to them by Stuff.
It said it would contact Denney about the review of BNZ Life’s decision to decline her claim.
Partners Life says its claims philosophy is that, “if it’s grey, we pay”, and “where the medical information is unclear or conflicting, we will remove the uncertainty and simply pay your claim”.
Denney said her surgery saved her life, and her weight has dropped by 35kg.
Doctors told her in 2020 that without the surgery she would have two years to live.
“I’ve passed that two years now, so every day’s given to me now,” she says.
At its worst, Denney’s symptoms were so bad, she was unable to work for nearly two years, though her life is on the up, and she is once again dreaming about buying a home.
She has landed a job at a supportive employer in Hamilton.
Cushing's Disease is a rare condition caused by excessive production of cortisol, a hormone essential for various bodily functions. It is a specific form of Cushing's Syndrome, where the overproduction of cortisol is due to a tumor in the pituitary gland. The condition affects 10 to 15 people per million each year, predominantly women between […]
For all of my early life, I was the good, compliant, patient. I took whatever pills the doctor prescribed, did whatever tests h/she (most always a HE) wrote for. Believed that whatever he said was the absolute truth. He had been to med school. He knew what was wrong with me even though he didn't live […]
Transsphenoidal surgery is the primary treatment for patients with Cushing disease (CD). This study assessed the surgical and endocrinologic outcomes of patients with CD following endoscopic pituitary surgery using strict biochemical criteria to guide surveillance in patients not achieving early remission.
Denise Potter, who works at the Christus Schumpert Highland Hospital as a mammographer, has Cushing’s disease which affects the performance of the pituitary gland. Greg Pearson/The Times 07.12.07 (Greg Pearson/The Times)
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