Living with cold agglutinin disease: Jörg’s story
Jörg Freitag is a busy retiree living in Rhineland-Palatinate, Germany, who lives with cold agglutinin disease (CAD). He was diagnosed six years now, but experienced symptoms for many years before that. Here, he describes his journey to diagnosis, and the impact that the condition has caused. Above all, he stresses the advantages that come from talking with others about rare conditions
Living in pain
In the autumn of 2009, Jörg was changing his summer tyres for winter ones. Suddenly he noticed that his hands were “hurting like hell” and they had turned completely white. He needed to call for his two sons, who were 13 and 14 at the time, to come and help him finish the job. With the work finally done, he went back into the house, his whole body aching as if he had been throwing snowballs. His skin, especially his ears, had turned blue.
Since then, this is how Jörg has reacted to cold: “It always happens to me, and it’s got worse over the years. First of all, it was a pain, but then it was a strong, unbelievable pain. I realised that my skin would turn dark blue, almost black when it was exposed to the cold. And it was happening faster and faster as the years went by.” Along with that came tiredness too. He likens the fatigue he experiences to that he has had in the past after running a half-marathon. It would strike him regularly, but he had no idea why.
In 2015 Jörg was running one April morning. On returning he noticed that he was “pretty blue in” the face and that his ears were white, so he went straight to the doctor. “Look at me,” he said, “I’ve never seen anything like this!” Unfortunately, the doctor was unable to correctly diagnose the underlying cause of his symptoms and prescribed a medication that didn’t help at all.
Over the next two years, Jörg spoke to several doctors, but they all thought the problem had to do with his heart—he should take good care of it and keep warm, they told him. “In late August into September of 2017, the tiredness was stronger than ever,” Jörg says. “I was turning blue and the pain was almost unbearable”.
“It’s a headache which builds up slowly but surely. Then, it’s the cheeks which start getting pulled together, and I’ll feel the tension. It’s as if somebody starts drilling into my brain.”
His doctors suspected that he might have bone marrow cancer and referred him to a specialist in blood disorders in Koblenz, which is a 45-minute-drive away. Four or five days later, after an exceedingly anxious wait, Jörg was called back to the clinic for the results. The specialist told him he had cold agglutinin disease (CAD)—something Jörg had never heard of. He was issued a health passport, which warned anybody taking bloods that they needed to be kept warm because they would clot at low temperatures. As he left the clinic, that scant information was all Jörg knew about his newly diagnosed disease. Later, his family doctor said he was also in the dark but would work with him to strengthen their joint understanding.
The search for knowledge
Jörg soon found a Facebook group based in the United States—the information from that was invaluable, he says. He learned more about what the disease is and how it could be managed: how to keep his hands warm without gloves so thick he had no dexterity, where to find heated inserts for his shoes, among many other things. Jörg describes it as a thriving community where people with CAD can exchange information and ideas. In Germany, though, there was nothing like that at the time. Most of the information available was in English, and it was aimed at healthcare professionals rather than patients.
Trying to find effective and well-informed care from a specialist, Jörg visited centres several hours drive away, but to no avail. In the end, it was one of his contacts on the Facebook site in the United States who recommended a German specialist who might be able to help. “From him I got the most thorough information I ever got. He took the time to give me clear information about how this disease happens. Basically your body reacts in a panicked way when it’s too cold.”
This new knowledge helped Jörg understand why he was so exhausted: his body was tiring from a constant internal battle in which his immune system was attacking and destroying his red blood cells. He was disappointed to also learn he was ineligible for any of the ongoing clinical trials.
Learning to live with CAD
In the knowledge there is no cure for his disease, Jörg is continuing to search for information to help him manage it. He has also set up a Facebook group for people in Germany who are living with CAD, to get the best possible information to the people who need it. “I know if I had had the opportunity to look at information in German, I would have saved myself a lot of time,” he says.
Jörg believes that people in Germany aren’t as open about their health as in some other cultures, but he believes that reaching out to others is “absolutely essential” if you have a rare disease. “It gives access to hints, tips and information from people who are willing to help”.
That peer support helps psychologically, too, for living with CAD can be very draining—in fact, “managing his mentality” is Jörg’s hardest challenge. He says that many northern Europeans living with CAD wish to live in a warmer climate to keep them from “pain, loss of red blood cells, fatigue and other problems”, but this is a step most cannot afford, so they need to radically change their lifestyle as winter approaches.
As the chilly weather sets in, Jörg puts his repairing of his beloved motorbikes on hold and exercises inside on a stationary bike, rather than running through the forest. “Basically I’m stuck here in the house in wintertime because it’s just too cold.”
He is saddened that he cannot easily enjoy the things he used to—and some things are impossible. If he is out in the cold, his skin will turn red, purple or dark blue and he has sometimes been embarrassed by the attention that this can bring—“people have looked at me as if I were an alien”.
“I always enjoyed going to the Christmas markets with their Glühwein (mulled wine) and other treats. But you’re standing out in the cold so my friends would look at me and ask what was wrong. Later on, when I knew about CAD and shared that with them, they would tell me to go inside.”
It is really important, Jörg says, to share your experiences with your rare condition and allow other people to help you. “Life is much easier if you talk about this… There are so many nice people in the world who are ready to help you and make your life more bearable and get you the knowledge you need to have in order to cope with your disease. You are not alone!”
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