Thursday, 23 June 2016

How My Diagnosis is Hurting Me

"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.' 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 this only weeds out diseases that are detectable through routine blood work. Often times, PH is caused by a secondary disease. If the secondary disease is managed, it can potentially 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' on my medical chart, the appointment ends. I saw an endocrinologist a few months after diagnosis. She told me that I had probably about 5 years to live, and that 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 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, even after I started making progress. 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. My 6 minute test improved by 100 meters. (This typically only happens in PH 3 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 handfuls of 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 2-3 years for most patients to receive a diagnosis of PH, which unfortunately, allows the disease progress to a later stage. (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 and a plane ride. Specialists tried to convince me that 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. At one point in my life I was carrying drum kits and guitars, and loading them into a van. I worked out regularly with no symptoms up until October 2013.

A PH specialist that I was seeing said that I may have POTs because of a few symptoms I show. My regular bloods pressure is 80/50 which is abnormally low. (My blood pressure was this low before starting PH meds, which can lower your blood pressure.) My blood pressure also drops when I stand. My heart rate increases by over 30 beats, and my o2 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 after my diagnosis despite the abnormalities that appeared in various tests. Despite the hole in my heart, I was still given the diagnosis of having an 'idiopathic' disease.

I also had a fistful of other unexplained symptoms that are typically tied to sympathetic nervous system. I remember laying in the hospital bed after my right heart cath telling the doctors that my feet and arms were tingling. They told me that it had nothing to do with PH and that 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 irregular for  markers for various things, but again, the word 'idiopathic' stops any specialists from trying to put together these puzzle pieces. I sometimes feel like they see me like a lost cause.

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 told me that I wasn't crazy, that 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 Lupus, or any other rheumatoid diseases. I am 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 a little bread crumbs leading me to somewhere. Unfortunately, my desire to be proactive in my treatment has not been with an open mind from the specialists I have seen. Several times I have heard "you have idiopathic PH, sweetheart" as if that is a concrete diagnosis.

The word idiopathic relates to any disease that arises spontaneously with an unknown cause. To have it treated as if it 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 that 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 different specialists. He even suggested that I research different specialists to see what one would have the most interest in my case. I have been referred to other specialists before, I think they feel scared to over step over any other specialist's work and diagnosis.

It is discouraging, but I will keep trying until...

Truthfully, a large part of me is frightened that 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 hate thinking that I might get sicker, or even worse, all because no one will listen to me. All because they see the word 'idiopathic.' That giant question mark has made it impossible to get a real second opinion, or another diagnosis from another specialist.

I have already had one specialist tell me that I am "not crazy." I try to stay hopeful that someday my puzzle pieces will make sense to a specialist, and that I can get better treatment to help me stay here and healthy for as long as possible.


  1. Serena, your story makes me sad beyond words. I don't know where you live, but if you contact the local chapter of you Pulmonary Hypertension Association, they may be able to refer you to a specialist who will reconsider your situation. I understand the feeling of wasting precious time trying to get a proper diagnosis. It is desperate. You need someone who specializes in PH and autoimmune diseases. I have PH secondary to limited systemic scleroderma. My PCP wrote me off as idiopathic and never connected the dots to get the big picture of what my other symptoms were trying to tell him, even though a close relative worked as a nurse in his office and also had scleroderma. My team consists of a specialized cardiologist, a pulmonary specialist, a rheumatologist who is actively involved in research and treatment of patients with my disease combination, and an endocrinologist. I'm considering the addition of a metabolic specialist as well.
    You are not crazy. You're a zebra. So am I. So are both of my daughters. Medical zebras. And the doctors waste your time because they are still expecting a horse, not a zebra. Don't lose hope. Keep your own records. And keep plugging away. You are your own best advocate.
    I wish you peace, courage, strength, and a doctor who will listen to you. That word in your chart is just a word until proven otherwise.

    1. I live in Canada and things are a little different here in terms of treatment and PH centres. (We have less access to PH medications here.)

      I am glad to hear that you have a multi blended team looking after you. I hope that you are in good hands :)

      Thank you for your kind words and encouragement.

      all the best


  2. Hi Serena,
    Have you seen a geneticist? I am currently working with a geneticist to see if we can find a common link to my lengthy medical history - it could be another option if you haven't already seen one. I was born with a heart murmur, was diagnosed with cancer at 7 months old, was on chemo, was told I would only have 3 months to live, but ended up beating the odds and making it. I have had endocrin issues growing up, have had 3 open heart surgeries, and have recently been having lung issues (I am right on the line of my pressures being bad enough to have PH). It's been a frustrating past few years trying to figure everything out so I can totally relate to that feeling of hopelessness. I would really encourage you to not feel bad for "stepping on toes" because it's your body and you are allowed to fight for yourself. I'll be thinking of you and hoping that the next dr. appts get you in the door and get you the answers you need!!!

    1. Hello,

      I have not seen a geneticist.

      Thank you for sharing your story with me. It sounds like you have had quite the fight your whole life. I am sorry to hear about your frustrations trying to piece everything together. I understand how hard, and even how hopeless that can feel.

      Thank you for the kind words and encouragement. I hope you get the answers you need as well.

      all the best

      - s

  3. Hi Serena,

    You sound a lot like me except they found my reason for my PH, lupus and a blood clotting disorder. I wish you could come to Chicago and see Dr. Roberto Machado and his team. He doesn't stop and will get every specialist involved that needs to be. When I am hospitalized I see him (pulmonary), the hemotologist, the rheumatologist, and the Med team. And internal radiology as needed along with anyone else he throws at me.

    I wish you nothing but the best in your search and hope you have your answers soon. Good luck and God speed.

    1. Hi Kathy,

      It sounds like you are in good hands. I am glad to hear you have an array of specialists for your different medical needs. (PH isn't an always one size fits all box or diagnosis, and sometimes we need individual treatment and research.)

      Thank you for the kind words.

      all the best

      - s