An unexpected and rare diagnosis

With an upcoming benefit, and many people around the community asking Amy about her rare medical diagnosis, she decided to sit down and share her story.

“If I can help anyone in anyway…that’s what I want to do,” she says.

Let’s start from the beginning.

Two years ago

With no immediate family history of cancer, Amy found a lump in her groin area. She wasn’t sure what it was and waited a couple of weeks to see if it went away. Her husband, Ryan, pushed her to go into the Doctor’s office to have it checked; this was about two years ago.

Dr. #1 put her on antibiotics to treat it as an infected lymph node, but also ordered an ultrasound. Three days later, Amy received a call with abnormal results and was asked to go back in. With other swollen nodules in the area of the main lump, the doctor suggested keeping Amy on antibiotics for a month while monitoring it, and they’d go from there. “I could see it in his face that he wasn’t sure what it was or wasn’t sure if he should move forward with it. I decided to get a second opinion,” Amy recalls.

Getting another opinion in Thief River Falls, Amy visited with Dr. #2, who right away wanted to biopsy the lump with a surgeon to make sure it wasn’t cancer. He sent her to Dr. #3 in Crookston. (Amy stressed the importance of getting second, even third, opinions and said she has had many doctors throughout this journey.) Instead of a small biopsy, Dr. #3 ended up removing three lymph nodes during that “same day” surgery. “I’ll never forget that day,” said Amy. The doctor said, “Well folks, I don’t want to sugar coat this. It doesn’t look good.” He called her three days later and said the preliminary results appear to be Lymphoma, which is a cancer of the lymph nodes. Fast forward the clock two weeks, and Dr. #3 called Amy again. The results had changed. He said, “We’re not too sure it’s Lymphoma. We’re not really sure what it is exactly, but whatever it was…we think we got it out.” 

Amy was left feeling confused and wondering what she should do. 

“I just had to believe what they were saying, I guess. All of my blood work and follow-up tests showed normal results so the doctors were left as stumped as we were,” she says. 

“I didn’t get any closure, though. I kept wondering if I had cancer or not and kept worrying and always checking myself for lumps,” she says. The doctors didn’t refer Amy on to any other doctors at that point. They felt confident there wasn’t a need for worry and they had removed whatever it was.

A year later

A year of worrying and all of a sudden Amy noticed her eyes starting to swell. “Major swelling,” she says. Along with that, burning, itching and pain kept her up at night. Back to Dr. #1 she went. Right away, that doctor ruled out Amy’s thyroid. He felt very confident the issues with her eyes were caused by an allergy. “Quit wearing makeup and change shampoos,” he said. Amy was put on eye drops and sent on her way. “If they aren’t better in a week, come back,” he suggested. 

Amy’s eyes never got better and she was recommended to an eye doctor. 

In the meantime, she was in the process of pursuing Lasik eye surgery, which was a personal choice, and her eye doctor wasn’t too concerned about the swelling of Amy’s eyes and suggested it could just be dry eye. They went ahead with the Lasik surgery, which went great. After routine checkups, the eye doctor changed his opinion, though, and thought the swelling could be related to the thyroid. Amy went back to Dr. #1. Her thyroid was tested again and everything came back normal. She was then set up with an allergist in Fargo. All of those tests came back normal. That particular doctor thought Amy should see a dermatologist about her eyes, in case it was a skin related issue. “I didn’t pursue that,” Amy said. “I knew it had nothing to do with my skin, and at this time, my eyes were swelling worse and worse and full of pressure.” She went ahead and made an eye appointment with a doctor in Grand Forks, whose practice she knew was closely related to the Mayo Clinic. 

At this time it was the winter of 2015. Amy said that doctor ran tests nobody has ever ran before. “He was immediately concerned about the way my eyes were protruding and ordered an MRI, which showed significant swelling of the tissue around my eyes,” she said. Once again, blood work was done on Amy’s thyroid, but it all came back negative. A biopsy was done on the muscle around the eye. The results showed inflammation, but no diagnosis was able to be made. This particular doctor felt confident in treating Amy for Grave’s Disease, which is a thyroid disorder. “I kept saying all my thyroid tests have been normal…how could this be?” Amy questioned. But the doctor basically told her it had to be that….that was all there was left.

Amy didn’t feel comfortable with this diagnosis. Having diabetes, and undergoing treatment for Grave’s Disease, she would’ve had to take medications that weren’t good for her, along with taking radiation. “I wanted to trust this doctor, but I just felt uneasy about it all. I didn’t want to settle for that diagnosis, especially when all my thyroid tests came back normal,” says Amy. “I wanted another opinion and requested to be seen at the Mayo Clinic,” she added. 

Winter of 2015-16

Right after Christmas, the Sorvigs went down to the Mayo Clinic. Upon immediate examination, the doctor said, “I would bet money on it that you have Erdheim-Chester Disease.” Amy had never heard of that before, but was told it was treatable and they’d get into it more at a later time. First, this doctor wanted to run more tests and do another biopsy.

Another biopsy was done, this time farther back behind the eye, and the results proved to, indeed, be Erdheim-Chester Disease. That was basically all Amy was told at that point. She was sent back home to heal for a couple of weeks. Once they returned to the Mayo, they’d learn more about the disease and how they’d move forward. “That’s one thing about the Mayo,” Amy commented. “They don’t give you a whole lot of information until you get there.” The doctor did say once Amy came back, they’d do a PET scan to make sure the disease wasn’t affecting any other areas of her body.

Amy wasn’t told much about Erdheim-Chester Disease, except that it was a very rare disease that affects blood cells and tissue and presents itself like a blood disorder or an autoimmune disease. She was told there were only 200 cases world-wide and not to research the disease too much online as the information is outdated and inaccurate; new information and treatment plans had been written and they’d discuss it at their next meeting.

“We’ll tell you everything you need to know when you get here,” they said. Which would be February of 2016.

February/March 2016

Amy went back to the Mayo and had her PET Scan to make sure the Erdheim-Chester Disease wasn’t showing up anywhere else in her body, except her eyes. Oddly enough, the doctors then found thyroid cancer. 

“How could that be?” Amy thought. “Especially when all of my previous thyroid tests came back negative...”

Amy was told thyroid cancer is not related to Erdheim-Chester Disease in any way, but says she can’t help thinking it’s all connected somehow. 

The doctors put the Erdheim-Chester diagnosis on the back burner and told the Sorvigs they’d have to do this in steps. The #1 priority was taking care of the thyroid cancer, which was caught at an early stage 1. Amy’s thyroid, along with all of the cancer, was removed and she was given radioactive iodine treatment. They set her up with various appointments scheduled for June 1st, 2016. 

Current day

At Amy’s June 1st appointment, her doctors will follow-up with the thyroid surgery to make sure all’s well. They will then start tackling the Erdheim-Chester Disease. Amy is anxious for this appointment, as she really hasn’t been told much about the disease itself. “I have no idea what they are even going to do or where we are at,” she shrugged. 

The last couple of months, Amy has joined an online support group for people diagnosed with the rare condition. A woman started the discussion group because her husband had died from the disease and she wanted a place for others to share their diagnosis, concerns, worries and stories. 

“I used to be such a closed off person,” Amy said. “But I have been investigating this disease and digging into it so much the last couple of months. My support group has taught me how to open up. They have been so influential in my life and have provided me with a lot of knowledge on the disease. These people have changed my life,” she pointed out. 

Since the disease is so rare and treatment plans are basically an experiment, she is learning through her support group that it’s hard to get insurance companies to pay for necessary treatments and medications. The disease seems to respond well to cancer treatments, though, and newly released information has actually reclassified Erdheim-Chester Disease as a cancer, a histiocytic neoplasm, which is a slow-growing blood cancer that may originate in the bone marrow or a precursor cell.

Because Erdheim-Chester Disease isn’t even in the medical books (it’s recently been written about in medical journals and is starting to be looked at more) Amy’s doctor said it’s probably the most undiagnosed or misdiagnosed disease. If someone has it in the eyes, they’re probably given a Grave’s Disease diagnosis; if it’s in the liver or brain, they’re probably told it’s something else. The disease is associated with high mortality rates, but with proper treatment, and a small area affected, the disease is treatable. Amy says she feels very lucky to only have it in her eyes as other members of her support group aren’t so fortunate.

“I look online and I see a 5-year life expectancy. But as I have learned, people have also lived decades with this. So when my mind goes there, I quickly shut it off. I am choosing to stay positive, plus my doctor has reassured me that I am in good hands,” she said. 

Most of what has been written in recent medical journals about Erdheim-Chester was written by Amy’s doctor, a hematologist, in the last three years. 

“The Mayo Clinic told me I will probably end up in all sorts of medical journals; not my name, of course, but my eyes!” she laughed.

Right now, Amy is putting all of her trust in her doctor. She has various appointments set up for Wednesday, June 1st, the day this article comes out.  

“From what I’ve read, this disease can also affect the long bones in your legs. For a while now, I’ve been having issues with my ankle. Is it related to the Erdheim-Chester? Am I just being paranoid? I don’t know,” she says. “I’ll find out more once I go back, I guess.”

Amy says she will share the outcome of her appointments with community members and sit down for a follow-up article with the Grygla Eagle.

At this point, they haven’t been able to share much because they haven’t been told much. But now hopefully, after her June 1st appointment, she can get necessary information and share it. “If I can help anyone in anyway…that’s what I want to do,” she says.

Amy and Ryan have one daughter, Ava, who is 9 years old. Because both Amy and Ryan have had to take so much time off of work to deal with Amy’s medical issues the last couple of years, things have gotten really hard for their family, financially. Amy is employed by Digi-Key and Ryan is employed by Arctic Cat; he is also a volunteer fireman with the Grygla Fire & Rescue Department.

Of their situation, Amy tries to remain positive. “At this point, money is money - things are things. I’m realizing what’s important and what’s not anymore. My health is important. And my family is important,” she tears up.

A benefit is being planned for the Sorvigs and is scheduled for Sunday, June 12th. It will be at the Grygla Community Center from 12-4pm with the Grygla Fire & Rescue Department serving a free-will offering pork-loin meal. There will also be a silent auction, bake sale and raffle. A bank account for Amy Sorvig’s benefit has been set up at the American State Bank of Grygla.  

Amy is hopeful that she’ll be back home from the Mayo Clinic and says she will be at the benefit. Stay tuned for a follow-up story on Amy’s June 1st appointment at the Mayo.