Fighting for a diagnosis
Danielle Ziatek finds a rare disease is behind her 15-year medical mystery
As a mom in Pleasanton, Danielle Ziatek found herself struggling with being tired, anxious, forgetful and a little overweight. While this situation doesn't seem that out of the ordinary for a busy mom with three young sons, she had sensed that something was wrong.
It turns out that her long-standing symptoms were part of a life-threatening and rare disease called Cushing's Syndrome. The hormonal disorder is tough to diagnose because it is very rare and its symptoms are fairly common in society, such as weight gain, type 2 diabetes, hypertension, depression and sleep problems.
"I knew something was wrong for about 15 years," Ziatek said. "I went to different doctors and they didn't have any answers."
Part of the reason so many Cushing's patients have to go from doctor to doctor to find answers, she believes, is because it is so rare. According to Cushing's Support and Research Foundation (CSRF), only 10 to 15 people per million are affected each year. It is most common in adults and affects women five times more frequently than men.
While noting that she isn't a medical professional, Ziatek said she isn't so sure that it's as rare as they say. She knows at least 10 people in the Bay Area who have it and believes there are others who go undiagnosed. In learning more about the disease, she also found out that a former Pleasanton resident and current newsletter organizer for CSRF, Karen Campbell, also had it.
The underlying issue behind Cushing's is that it causes glands to release too much cortisol -- also known as the stress hormone. It eventually leads to shutting down the body's systems, including the reproductive system, making many women infertile.
For Ziatek, she felt anxious all the time and had difficulty sleeping. Over time, she noticed her thin face was becoming round and despite a healthy diet and active lifestyle, she was putting on weight in odd places.
Among many things she tried to feel better, Ziatek went to a nutritionist. Eventually, it was how she heard about Cushing's, when the nutritionist suggested she have her cortisol levels tested. She went on to see a few more doctors before she ended up with Stanford Medical Center endocrinologist, and Cushing's specialist, Dr. Larry Katznelson.
As it would turn out, her cortisol levels were three times the normal amount. She underwent several more tests and was officially diagnosed a few months later.
Katznelson said part of the difficulty in diagnosing Cushing's is that patients have different symptoms and it's not always obvious. One reason it's complicated, he added, is that many patients are just overweight.
"You can't just say, 'Oh, you have it, let's move forward with the evaluation,'" he said. "Even after (multiple tests) it's not completely clear. We try to be really careful about this."
Starting in 1993, Campbell said she saw 21 different doctors over three years trying to figure out what was wrong with her. As time went on, the disease started to make her weaker, to where she had to pick up a glass of water with two hands. She also had trouble with concentrating and memory, once leading her to get lost at Stoneridge Shopping Center before she stopped driving altogether. It also kept her from working.
A resource that helped Campbell was the medical library at Pleasanton's ValleyCare. There, with the help of the staff, she was able to find a medical textbook and learn about Cushing's. She immediately identified with what she read.
One of the biggest indicators of disease is the "moon face" and irregular weight gain that develop over time.
"I was so focused on what I couldn't do that it never crossed my mind to mention how my appearance had changed," she said.
She mentioned it to her doctor and brought in pictures that showed her weight progression, prompting him to ask why she hadn't mentioned this before.
Both Campbell and Ziatek credit persistence to being able to get to the bottom of their medical issues.
Early on, Ziatek said she dove into books on the subject, but didn't find much comfort, so she sought out other resources. One was the CSRF website, www.csrf.net, which has created a community for people to get support and doctor-backed information that helps provide answers.
Katznelson, who is also a board member of CSRF, said it's great that there are online resources out there for people to learn more about Cushing's but finds that self-diagnosis has its pros and cons.
"Many people are able to self-diagnose, especially the more computer savvy," he said. "They should Google what they notice and possibly diagnose with Cushing's. Even still (with all the research) some physicians don't believe them."
"Self-diagnosis can also be dangerous," he added. "It can lead patients to have psychological issues. There is a balance. It's appropriate to try to obtain information about an issue and you may know more about it than the doctor. But there are a lot of blogs that have no reality base in medicine."
For someone in a similar position, trying to figure out answers to personal medical mysteries, Ziatek said she recommends seeking out a specialist who will listen and to follow your gut.
"The hardest part is not knowing what's wrong," she said.
Having undergone the surgery in September 2008 to have the problem tumor in her pituitary gland removed, she recently shared her story with others to provide hope.
The recovery took about a year, and now she is glad to be Cushing's free. She has more energy and her body is getting back to normal again. Mostly, she said, she's glad to regain her zest for life, which is something that the disease had taken from her.
Campbell had the surgery to remove her two adrenal glands in 1994, a process that also took about a year to recover. While she is dependent on medication due to the removal of both glands, she is thankful that she is someone who was diagnosed because some never are.
It was during recovery that Campbell started to help create the CSRF. The newsletter goes out to about 1,000 people -- both doctors and patients -- and the goal is still to raise awareness about the rare syndrome.