The Difference an Early Diagnosis Makes

Patient story

Rosanne Huber

Rosanne HuberThe Pulmonary Hypertension Association (PHA) connected with Rosanne Huber, an avid runner, on the devastating diagnosis that nearly brought her life to a crashing halt. Luckily, early diagnosis of pulmonary hypertension (PH) by Dr. Pasha Sarraf and referral to an expert center halted the progression of this devastating disease. Pulmonary hypertension, often described as high blood pressure in the lungs, is a rare debilitating disease that affects the functioning of the heart and can lead to right heart failure. Without treatment, the average survival rate is only 2.8 years. Ms. Huber shares her story:

I was nearing 40 when I decided it was time to start exercising. My cholesterol was elevated and I was surrounded with neighbors who participated in many various exercise activities. I loathed running when I was younger, but suddenly found myself in love with it. Progression was the key to building my endurance. Within a few months of training, I was finally able to run a 5K. Then, about a year after I started running, I began experiencing intense shortness of breath with exertion and a decline in my endurance.

I went to see a pulmonologist who told me that I should be happy I could even run a mile. I figured I was fine, and that I didn’t need to pay attention to my symptoms anymore. A few months later, we moved from flat Florida to hilly Rhode Island. As I continued to run, I started experiencing an increasing number of symptoms, especially with the hills that I had to run. A seasoned runner at this point, I was now having to stop frequently due to extreme leg fatigue, elevated heart rate, and shortness of breath.

I discussed the symptoms I was experiencing with my rheumatologist, Dr. Pasha Sarraf at Massachusetts General Hospital. Dr. Sarraf promptly referred me to a pulmonologist specializing in pulmonary hypertension, Dr. Aaron Waxman, at Brigham & Women’s Hospital. Dr. Waxman advised me to have an invasive cardiopulmonary exercise test with right heart catheter and nuclear imaging. I soon learned that I had what is called exercise-induced pulmonary hypertension (PH), which meant that the blood pressure in my lungs was made too high by exercise. Unfortunately, as Dr. Waxman explained, exercise-induced PH was not a treatable diagnosis. We decided together that I would try a conservative approach to treatment with medications indicated for pulmonary arterial hypertension (PAH), and I tried a calcium channel blocker. When this failed to improve my symptoms, Dr. Waxman took me off of it.

As time passed, I began to notice more and more symptoms. Things like vacuuming or carrying heavy items up the stairs would leave me breathless and, at times, lightheaded. Running was becoming more difficult, and I found myself having to stop frequently to catch my breath and to let my heart rate decrease. When I shared this with Dr. Waxman he decided to try what was then the only oral therapy for PH on the market: Bosentan. Within a couple of weeks there was a noticeable improvement, and I was happy to once again be able to run four miles without symptoms.

Since my diagnosis in 2006, a lot has changed in the world of PH patients like me. There are now 12 FDA-approved medical therapies for the treatment of pulmonary hypertension. Despite this, there is still no cure for pulmonary hypertension. Today I take yet another medication for my PH, but I continue to run. Running keeps me healthy and in shape, and affords me an opportunity to fight back against this terrible disease. Periodically I compete in races, every one of which is dedicated to PH awareness. I often fundraise for the Pulmonary Hypertension Association, or run in a PHA shirt.

Rosanne HuberMy goal this year was to run a full marathon. I trained through a grueling winter and, in May, I ran the Long Island Marathon. Joanne Sperando-Schmidt, a fellow PH patient and the leader of the Long Island PH Support Group, her husband Ken, and Gina Parziale, Executive Director of PHA’s Greater New York and Philadelphia Chapter, were all there to cheer me on in spite of the cool, windy weather. I started the marathon with an injury, but was determined to finish, and I did. I completed the full 26.2 miles not only for myself, but for the PH community. I was not about to let them down.

As an active member of the PHA community, I now know that PH is a very commonly misdiagnosed illness because of the similarity of the symptoms to those of other, more common diseases, such as asthma and COPD. Knowing that, for most patients, the average time to accurate PH diagnosis is 2.8 years, I am forever grateful to Dr. Sarraf for recognizing this rare and hard to diagnose illness and for referring me to an expert like Dr. Waxman. Additional time spent searching for the right diagnosis would have been valuable time wasted, and my PH most likely would have progressed to the point that my health and mobility were severely affected. Quite simply, through Dr. Sarraf’s early detection of the disease and Dr. Waxman’s continued care, I have been able to continue to do what I love, and today I lead a life unaffected by PH.

I know that I am very fortunate in this regard, and I will continue my efforts to raise awareness of pulmonary hypertension because I want others to have the same opportunities that I have been given. This November, in celebration of Pulmonary Hypertension Awareness Month, I am sharing my personal story because I want others to recognize that early, accurate diagnosis is absolutely vital for patients afflicted with PH. With no cure for PH the best chance patients like me have comes through early diagnosis and treatment, and so I will continue to run for PH until there is a cure!!! 

Pulmonary hypertension is a serious, debilitating, and often fatal progressive condition where the blood pressure in the lungs rises to dangerously high levels, ultimately resulting in right heart failure. While presently an incurable condition, early intervention improves treatment efficacy, and may extend and improve life for PH patients. Through its groundbreaking Early Diagnosis Campaign, the Pulmonary Hypertension Association seeks to target diagnostic delays with the end goal of optimized care and disease management.

Dr. Pasha Sarraf would like to extend his thanks to Dr. John Kay at Massachusetts General Hospital and Dr. Virginia Steen at Georgetown University for their mentorship regarding pulmonary hypertension and early diagnosis.

PHA does not recommend or endorse any specific physicians, products, procedures, opinions or other information that may be mentioned in these stories. Reliance on any information appearing on this website is solely at your own risk. Stories shared on this website are general information and are not intended to substitute for informed professional advice. Each person is different and as such, may respond differently to treatments, thus the stories are shared with the hope that they may be helpful for those who choose to take a greater responsibility for their own health. Always seek help from a health professional.

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The National Organization for Rare Disorders (NORD) awarded PHA the Abbey S. Meyers Leadership Award in 2012 for outstanding service to PHA members in advocacy, education and other key areas.