Why Doctors Shouldn't Give Up on Treating an Idiopathic Diagnosis


Serena with oxygen tubes.
Serena.

“What’s wrong with me?”

This was a question I found myself asking only a couple of months before being diagnosed with pulmonary hypertension.

Upon diagnosis an expiration date was stamped on my back like a carton of milk.

I was officially diagnosed with stage 3-4 idiopathic pulmonary arterial hypertension (PH). The word “idiopathic” is a fancy word meaning that the doctors have no idea why I developed this disease. There was no rhyme or reason.

The word “idiopathic” attached to my medical files has almost felt like a curse.

Upon diagnosis, blood work was drawn to see if the PH was caused by a secondary condition, but that only weeds out diseases detectable through routine blood work. Often times, PH is caused by a secondary disease. If the secondary disease is managed, it can help stabilize the condition of the PH. I have tried very hard for over two years now to seek the help of specialists outside of the PH scope. I have all these loose ends and puzzle pieces of different symptoms and clues. They all seem to overlap into a grey area, none of which really fit into the diagnosis of PH.

Unfortunately, as soon as another specialist reads the words “idiopathic” and “fatal,” the appointment usually ends there.

I saw an endocrinologist a few months after diagnosis. She told me I had probably about five years to live, and there was nothing she could do for me. That was the end of the appointment, without even asking about my symptoms or looking through my files. Since then, I have had many failed attempts with other specialists, but I continue to keep trying to find answers.

All my medical files from the first year of my diagnosis start with the same line. “Serena refuses to take her one medication as she believes it makes her worse. Serena has improved since her last visit.” I look back at the months leading up to diagnosis and I started taking a medication that can interfere with the autonomic/sympathetic nervous system — although this is extremely rare. (PH, by the way, is also extremely rare.) The autonomic nervous system controls certain functions, such as breathing and your heart rate.

I explained to every doctor that this medication made me ill. It would make me bedridden within a matter of days after taking it. Each doctor told me to continue taking it, but I could feel it killing me. I was prescribed nearly 12 different variations of this medication until I had enough. I stopped taking it, I switched medical teams and my “6-minute test” improved by 100 meters. (This typically only happens in PH three months after starting a new medication. The last time I had started a new medication at this point was a well over a year ago.)

There are more puzzle pieces to my diagnosis that don’t add up. The PH progressed at an alarming rate, which isn’t impossible, but very unusual for PH. It takes about two to three years for most patients to receive a diagnosis of PH, and by that time they are typically at a later stage of the disease. (Sometimes the progression of the disease can be escalated by something like pregnancy.) For me, I developed symptoms in a matter of months after starting this medication. Specialists tried to convince me I have had it for years, but before June of 2013 I was working at the busiest bakery in town lifting heavy boxes up a rather large stair case — something that would be very difficult for someone to do with PH. I worked our regularly with no symptoms up until October 2013.

A PH specialist I was seeing said I may have Postural Orthostatic Tachycardia Syndrome (POTS) because of a few symptoms I show. My regular blood pressure is 80/50, which is abnormally low. My blood pressure also drops when I stand. My heart rate increases by over 30 beats, and my oxygen levels drop. So many of my symptoms overlap with other invisible diseases, making them harder to diagnosis. POTS can also be caused by a nervous system dysfunction.

One of the main causes for PH is a congenital heart defect. Upon diagnosis I learned I had a valve open in the chamber of my heart, and that the hole was rather large. I’ve heard conflicting opinions over and over again about this hole. It has been so confusing to hear one specialist say I will die quicker without oxygen use, while another one said I am fine because of that hole. A cardiologist said that if I got the hole repaired there is a chance I could be in better shape. I was never given a cardiologist referral after my diagnosis despite the abnormalities that appeared in various tests.

I also had a fistful of other unexplained symptoms typically tied to the sympathetic nervous system. I remember laying in the hospital bed after my right heart cath telling the doctors my feet and arms were tingling. They told me it had nothing to do with PH and it was fine.

I’ve had night sweats, muscle weakness, the inability to regulate my temperature, intolerance to the heat and cold, nerve pain in my thighs and head, along with having my blood pressure drop upon standing. My blood work has also came back as “irregular” for various markers, but again, the word “idiopathic” often stops any specialists from trying to put together these puzzle pieces.

In March of this year, I finally saw an rheumatologist. She took a look at the blood work done from the very day I was hospitalized and diagnosed, nearly two and half years ago. She laughed a little and pointed something out to the student doctor. She then confirmed something was definitely abnormal. I had a high amount of white blood cells. She told me that she had a gut feeling that I had lupus, and I was immediately put on some heavy duty imunno-suppressants. I received a phone call three weeks later informing me that I didn’t have an endocrine disease or lupus. (I am, however, still on the lupus medication, just to see what happens.)

I have come into my appointments with research papers, along with written timelines and events leading up to my diagnosis. I bring up my strange reaction to do different medications. They are little bread crumbs leading me to somewhere. Unfortunately, my desire to be proactive in my treatment has not been met with an open mind from the specialists I have seen.

Several times I have heard, “you have idiopathic PH, sweetheart.”

The word idiopathic relates to any disease that arises spontaneously with an unknown cause. To have it treated as if it were a concrete diagnosis that answers to all of my symptoms, and has been diagnosed through blood work, is beyond frustrating.

Thankfully, my family doctor is a wonderful and patient man. From the very start of my diagnosis he has said he would do whatever he could to help me. I recently went to him with my concerns, and he is happily referring me to several specialists. (He even suggested I do research and contact him back with what specialist I think would have the most interest in my case.) I have been referred to other specialists before, but they have seen my medical history and I think they feel scared to over step over any other specialist’s work and diagnosis.

It is discouraging, but I will keep trying. Truthfully, a large part of me is frightened my PH will not be managed in an optimum way if my other issues are not addressed. It is clear to me that they over lap, and it is terrifying to think I could get sicker because of this.

I have already had one specialist confirm my thoughts that something is abnormal. I try to stay hopeful that someday my bread crumbs will make sense to a specialist and I can get better treatment to help me stay here and healthy for as long as possible.

To learn more about PH or donate, visit PHAware

Follow this journey on Phight or Flight

The Mighty is asking the following: What’s the hardest thing you deal with as someone with a chronic illness, and how do you face this? What advice and words of support would you offer someone facing the same thing? Check out our Submit a Story page for more about our submission guidelines.

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