For the first time ever, I had to explain what pulmonary arterial hypertension (PAH) was to another healthcare provider. I also had to describe the use of what I thought was a very common medication. I’ve been told this is a rare disease, but it didn’t really hit me until these encounters.
You lose a sense of trust and confidence in your medical team, when they have no idea how severe your symptoms really are. Or rather, the physiology of your condition. From the outside, I look like your typical, healthy 30 something year old. However, on the inside my pulmonary pressure is triple what it should be, the right side of my heart is incredibly dilated, and I have a continuous infusion of medication keeping me afloat.
I can remember sitting in my doctor’s office almost a year ago now, questioning everything that had just happened to me. I had the most unexpected and unexplained autoimmune flare during my pregnancy, which had also impacted my daughter’s health. Just one week earlier, I was just discharged from the hospital after surviving a huge pulmonary embolism. AND I had learned I also developed a rare kidney disease. None of this was ever supposed to happen, but it did. I desperately wanted answers.
I asked, “is this autoimmune related? Do I have lupus? Why did this happen? How did Renee get heart block if I was taking the medication that prevented it?” Good thing he was wearing a mask, because he was speechless and I can only imagine his facial expressions. He simply just said no, and I don’t know. At the time, I was like THANK GOD! I couldn’t stand to hear that one more thing was caused by my autoimmune disease, portraying that it was my fault all of these random things happened to me with no explanation.
I just wanted answers, I needed to know the why and how. Nothing made sense. Time would eventually tell that all of my symptoms were hiding in plain sight. I hate the road it took me to figure out that answer. However, it is finally an answer I am still coming to peace with.
Education Is Key
One of the things I love most about being a physical therapist is educating my patients. I love explaining how their bodies work, why I am having them do the exercises I prescribe, and how amazing the human body is. Education is huge! I often think I am lucky I have a medical background to comprehend and grasp everything coming at me. Even with that knowledge, it can still be very difficult to keep up.
I wish there was more time to spend on education in the office. I can understand not wanting to put the cart in front of the horse, and scare patients with potential worst case scenarios. However, I’ve learned it’s important to consider the zebras out there too. That was me. I was a zebra.
Pulmonary arterial hypertension is a rare and very serious disease. There is no cure. Only treatment and management of symptoms. You can learn more about it from the Pulmonary Hypertension Association itself, or also in my terms. Fortunately, I am responding to my current treatment and in a much better place than I was at my official diagnosis a year ago. However, I am nowhere near the same person I was when my symptoms first started.
I wanted to share my story and my diagnosis. My goal is not to invoke fear, or look for pity. However, to simply educate. Like I said, that is something I do love to do.
Where It All Started
I have been quite lucky and blessed my whole autoimmune life. I had some complicated illnesses that had potential to become serious and wreak havoc on my adolescence. As I grew up, I went through some pretty uncommon things for someone my age, getting steroid shots literally in my eyeballs, skipping track practice to get UV light treatment for my psoriasis, but I never let it phase me. I didn’t expect anything bad to ever happen to me. I didn’t expect to be the rare one. But then again, who ever does?
My symptoms first started in the Spring of 2019. I had been perfectly healthy (as possible) up until this point. They began with shortness of breath (SOB) and chest pain. It sounds pretty scary, like I should go to the ER, but it wasn’t that severe. I mostly experienced increased SOB with activity. I just thought, wow I must be out of shape or something. That fall, I remember giving a presentation to a group of elderly women in my community on safety within the home and how to prevent falls. During the presentation, I was pausing between each slide to catch my breath. I felt like I looked so nervous and unprepared, but I was really just struggling to breathe.
The chest pain always came on after I ate. It was central to my chest, right underneath my sternum. Sometimes it would also radiate to my right shoulder. It would linger for hours, and for some reason was worse at night. It would keep me up and night, and I couldn’t lie flat in my bed.
Things started to get worse. I was losing weight. Bending over made everything worse, and left me so out of breath. I couldn’t get in to see my rheumatologist for another 2 months, so I started with my PCP.
We did an EKG, CTA (ct scan with contrast),chest x-ray, echo, blood tests, and even an abdominal ultrasound. My CT scan came back and was very scary. Surprisingly, there were no blood clots. However, some words like pulmonary nodules, bronchiectasis, and pleurisy came up. That landed me a referral to a pulmonologist.
I did a pulmonary function test at my first pulmonology visit and it was abnormal. I was getting efficient oxygen exchange, but not expanding my lungs as well as someone my age would. That is still a mystery to this day. The pulmonologist told me my lungs looked inflamed, but there was no specific condition to diagnose and treat. It was likely related to connective tissue disease. Sjogren’s syndrome is a type of connective tissue disease.
My abdominal ultrasound showed some scarring in my kidneys, which led to a referral to a nephrologist. All that visit resulted in was, “it’s nothing to worry about, and your kidney function is perfect.” Also an “oh by the way” you should change your diet because you have a chronic disease. If I had a chronic disease this is what I would do. Seriously, the last thing I wanted to be lectured on.
My rheumatologist ordered every test in the book. I had about 20 vials of blood drawn at one time. Literally everything. Some things came back normal, others just showed increased inflammatory markers. Still no specific answers, still short of breath with chest pain, and still in this limbo of what is happening to me.
My initial blood work showed that my platelets were extremely elevated. That led me to a hematologist. He also ran every single blood test in the book. Everything came back normal. Platelets were still highly elevated, and I was continuing to lose weight and have my SOB and chest pain. The hematologist decided to order a bone marrow biopsy to rule out any lymphomas or leukemias that may be causing my abnormal blood count and symptoms. Once you reach the point where you are having a bone marrow biopsy, it is pretty scary. Fortunately, that came back negative. The conclusion was that my platelets were elevated because of an inflammatory response.
Still no definite answers, still having symptoms. It was time for the heart to have its debut. My first echo was relatively normal. The only thing that was “abnormal” was my pulmonary pressure. It was in the mid thirties. Normal is ~20 mmHg. I continued on to have a stress test, a stress echo, and a CPX which is an exercise test to determine if there is an issue with my lungs or my heart. I also vividly remember sitting down with the cardiologist and having him tell me that my pulmonary pressure was higher than normal, but just barely so that was likely my normal. Everything else looked clear. The CPX study did in fact show that the deficits I exhibited were due to my lungs and not my heart. I was referred back to the pulmonologist.
Clear As Mud
Is it clear now? Because it should be…but it wasn’t. I was treated with an 8 week course of steroids. It helped, but I always felt some shortness of breath when I shouldn’t have been. People would ask me, Emily, why are you breathing so heavy. I was never the same, but at the same time I was somewhat better.
My pulmonologist ordered another CTA to see how I responded to the steroids. It was the day before Thanksgiving, I get the CT then head home. This came out of left field, yet it was the answer everyone had been hoping for to find to solve their problems. There it was, a pulmonary embolism. In its final resting point. I had a blood clot in my lung, and had no idea. As I mentioned, I am a physical therapist. I know how to look for signs of DVT and blood clots. At no point in time did my legs swell, did my calves hurt, or did my skin turn blue. I would have recognized if a clot traveled from my extremities to my lungs. It again was determined to be from my autoimmune disease.
They Weren’t Wrong Though…
The thing is, all of these doctor’s were right. What I was feeling was because of my autoimmune disease. My autoimmune disease was attacking the lining of the blood vessels in my lungs, causing them to become diseased and less pliable. I had pulmonary hypertension. It was minor, and in the early stages, but it was there.
Unfortunately, I had to experience a lot more symptoms and a near death experience to finally get a diagnosis and treatment. Some things still remain a mystery such as my elevated platelets, and this out of nowhere kidney disease. That is why I am here today, basically spewing my whole medical chart on the internet for all to see. It is always easy to look back and say I should have done this, they should have known then.
Where To Turn?
It is overwhelming to keep up with all of the information being thrown at you when new symptoms appear. I was used to rheumatology lingo in my work and in my life, I could dabble some cardio lingo and basic physiology, but I was completely lost in the hematology world. However, it shouldn’t be your job to figure out how to put all of the pieces together.
Make sure you have a good medical team that can communicate efficiently with each other. THIS IS KEY! My team was great! I cannot say that I didn’t have physicians that didn’t stay after work until 7 pm the day before Thanksgiving to make sure I got the blood thinners I needed, or the ones that let me cry in their office because everything was just so overwhelming, or the ones that call me just to check in and make sure I am okay, or the ones who would give me their cell for anything I needed.
Unfortunately, I just happened to be the zebra no one was expecting.
I share this story in hopes that it can help someone else in my situation. Struggling to find answers. To keep pushing, keep questioning, keep fighting, and know that they are not alone.
Okay, y’all are definitely sick of reading by now if you made it this long…check out my other posts below to learn more about some of my illnesses and how I finally got the diagnosis I needed.