Being my own expert in cardiac sarcoidosis

Day 1,544.

Having a rare disease is like studying to become a doctor, but specializing deeply in one specific disease and it’s effects on one body, intimately.  You spend all your time poured over new research, listening to podcasts about it, and analysing your symptoms and test results for trends and changes. 

When something goes wrong you then have to meet with a doctor who has maybe never met a patient with your condition, and who has perhaps read about your disease from a single page in university.  This page will by now be outdated, and they most likely have never heard about your condition since. 

Or they have met a few patients, but their manifestation of the disease is nothing like yours.  They might not know that specific symptoms may be related to the condition, and it may take a long time for them to rule out other more mainstream issues before you will be sent to another specialist.  That specialist may also not know about your condition. 

If you are lucky, they will know a bit more.  Or be willing to research things on your behalf.  Or even be open to you sharing research with them – although I have never had a doctor where I knew them well enough to do that.

Medical anxiety

Meeting a new doctor fills me with anxiety.  I have to book extra-long appointments to meet with them for the first time, as I have to communicate a very long and complicated history to them.  Part of this is educating them on my condition too.  Yes, I have cardiac sarcoidosis.  No, I don’t have it in my lungs.  Yes, really – only in my heart. 

You want to change my medication?  We have to think about why I am on it, and what we will replace that medication with.  I have been through a lot, and have a lot of opinions on what is working for me and what isn’t.  I question.  I don’t just blindly accept.  I know about alternatives to try.  I know what other patients have said works for them, and what their journeys have been.

My strangest interaction with a doctor

I met with an orthopedic surgeon a couple of years ago to discuss continuous back pain that I was having. At the time he conceded to me having some scans to evaluate my spine. One of the incidental findings was that I had a small lesion on my spine. His words to me were:

Great news, it's only sarcoidosis!

This was after I already had been diagnosed for a couple of years with cardiac sarcoidosis. My experience up to that point had not been that this was a benign condition, and I most certainly did not think it was anything to be celebrated.

This is likely how one doctor's limited past experience has shaped his view of a disease that is sometimes benign, and in other cases extremely serious.

It is expensive to have a rare condition

What is hardly spoken about is the additional expenses you have as a patient with a rare condition. I am extremely lucky to live in a country with a good health care system. A lot of my expenses are taken care of.

But even so, I have found that I need a more comprehensive health insurance. If I want to have any new symptoms investigated, it is very difficult to get them referred to a public health specialist as waiting lists are extremely long. Unless it is life threatening, it is almost impossible to get something investigated. Most of my cardiology needs have been fully taken care of though.

I see my GP almost every other month. Being on immunosuppressant medication means I am sick quite often. It also means that I have many rashes and infections. Although I have been wondering about skin sarcoidosis too. Each GP visit costs me.

I also pay for the GP to prescribe me my repeat medication prescriptions every three months. And then I pay for the pharmacy to fulfil them.

Having a rare disease is an expensive lifestyle choice.