Opinion: My rare disease went undiagnosed, until I spoke up

Don’t just turn over your body — be a strong participant and advocate in all phases of your medical care from diagnosis to treatment.

(Gerry Broome | The Associated Press) In this Sept. 5, 2013 file photo, chemotherapy is administered to a patient via intravenous drip.

More than 15 years ago, I started noticing that, when exposed to cold, my skin would get numb and turn blue. My fingers wouldn’t work. I’d be very sensitive to cold — in the beginning, it was just in my extremities, but later my entire body would react.

For years, I thought I had a common cold-reaction disease called Raynaud’s Disease. I just decided I had to prevent my skin from getting cold. It wasn’t easy because I’m an outdoors person. I walk five miles a day no matter the weather. I also camp, hike and bike. I would just cover up, wear a warm hat with ear flaps, put on a warm face mask and use good gloves. With the help and understanding of my husband and outdoors companion, I was able to accommodate and continue my active lifestyle. And I’ve been fortunate enough to spend winters in a warm climate in Mexico.

I did, however, want answers. And after years of appointments, research and self-advocacy in medical offices, I finally have a diagnosis.

I have a very rare disease called Cold Agglutinin Disease (CAD), an autoimmune disease in which auto-antibodies called cold agglutinins (CAs) attach to red blood cells and cause them to clump, or agglutinate, so that blood can’t get to the tiny capillaries on the surface of the skin. Those agglutinins can eventually destroy red blood cells.

I have the primary form of this disease, which means it isn’t associated with some other disease or disorder, and the cause of these particular antibodies going rogue is unknown. My primary care physician (PCP) had never heard of the disease and, even when I was referred to a hematologist/oncologist, she had seen only three cases, all secondary CAD, during her training. It wasn’t until 2021, when I was preparing for my annual checkup with my PCP that I noticed several references to “cold agglutinins” in my blood test results from the previous year.

I did some internet research and told my PCP I thought we needed to consider that I may have this disease. My PCP was apologetic about not recognizing the CAD signs, but he researched it and was quick to order several appropriate tests. The results supported a CAD diagnosis, and my doctor referred me to a hematologist/oncologist.

The hematologist was well-prepared when I saw her in early August of 2021. She was fascinated and very engaged with my case because it was new to her. She ordered a battery of blood tests, and later, imaging and bone marrow biopsy to rule out some association with blood cancer or other autoimmune diseases. The blood tests again confirmed a high level of CAs.

The good news was that I didn’t have any of the cancers or autoimmune diseases that CAD can be associated with. I was only slightly anemic, so it didn’t appear the CAs were doing significant damage to my red blood cells.

The hematologist was concerned about possible ill effects of my CAD over time, especially if the cold sensitivity continued to worsen. She recommended chemotherapy treatment — the same that’s used to treat leukemia. It would involve infusions two days a month for a period of four months.

So, after agonizing during our winter of 2021-22 in Mexico, I decided I needed to try it. I started the treatments in early May last year and finished the fourth one in late July. I actually got a combination of two drugs – Rituximab and the chemotherapy drug Bendamustine. My body handled the toxic effects of chemo quite well, and I feel lucky that I didn’t experience serious side effects. I do believe that being healthy and fit going in, plus mustering a positive attitude and maintaining my active lifestyle helped immensely. I never missed a day of walking my five miles.

There were interesting experiences with medical personnel because no one had dealt with CAD before. An example is the weird phenomenon that when I have a blood draw, the vials have to be kept warm or the blood coagulates. They also had to warm the infusion.

Unfortunately, I have not shown improvement in my cold reaction over time, and my blood counts of CAs are unchanged. There are other possible treatments for CAD, but this is the most recommended, and I’ve decided I will just live with my condition.

I think one of the lessons from my experience is that patients need to take responsibility, especially when they have a persisting and uncommon condition. Don’t just rely on your doctor. Look at your test results, ask questions, do your own research. Don’t just turn over your body — be a strong participant and advocate in all phases of your medical care from diagnosis to treatment.

Jeanette Rusk Sefcik

Jeanette Sefcik, Glendale, is a retired newspaper reporter and editor, having worked at newspapers including the Tucson Citizen, Daily Spectrum in St. George, Southern Utah News in Kanab and Lake Powell Chronicle in Page, Ariz. She has a master’s degree in journalism from the University of Arizona.

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