‘Without my gut intuition and the right doctors, I might not have found out about my PAH.’

Jenna Olitsky of Orange County, California, began blogging about health and travel after she was diagnosed with hereditary hemorrhagic telangiectasia-related pulmonary hypertension. She shares her diagnosis journey during HHT Awareness Month.

By Jenna Olitsky

Ever since I was young, I knew hereditary hemorrhagic telangiectasia (HHT) ran in my father’s side of the family. My father has HHT, my grandfather has HHT, and HHT can be traced back in our family two or three generations before my grandfather. As a child, I had some nosebleeds but nothing too out of the ordinary to cause alarm.

Because of my family history, I was genetically tested for HHT when I was 12. The results showed that I had the ALK-1 gene mutation for HHT. My life related to HHT remained unchanged until 2018, when I was diagnosed with pulmonary arterial hypertension (PAH) linked to HHT. I was 27.

Before my formal diagnosis, there were signs that eventually led to my PAH diagnosis. I felt lightheaded after walking up stairs and walking long distances. Sometimes I passed out during normal daily activities. I chalked up each occurrence as situational: altitude, too much exertion, dehydration or simply having an off day.

In 2017, I started to think something might be really wrong. I was in the best shape of my life: I regularly went to yoga and spin classes and was training for a half-marathon. However, walking up a flight of stairs or a hill was difficult. I would become out of breath and dizzy and eventually passed out. My heart rate would skyrocket to 190-200.

Looking for answers
I decided to see an internist to discuss my concerns. I explained that I had HHT (which the internist had never heard of) and what was happening to me. The doctor noted that my blood pressure and heart rate were high but thought it was because I was nervous to see a doctor (which I was not). At the end of our visit, the internist said nothing seemed physically wrong.

As time went on, I kept passing out. I knew something was wrong. So I made an appointment with a cardiologist. The cardiologist listened to my concerns and said to wear a heart monitor for a week during my normal activities. During that week, the monitor showed normal readings.

The next step was to get an echocardiogram. However, my insurance denied the procedure because the internist’s notes didn’t indicate serious enough issues to warrant the test. I fought with the insurance company for months.

Fortunately, my cardiologist stepped in and fought for me to get approval. He wanted me to have the test as soon as possible, so I scheduled it before I was to leave for an overseas flight. I went in, expecting nothing serious.

Invisible disease
While doing last-minute packing, I got the call that would change everything. The echocardiogram showed abnormally high pressure in the right side of my heart. I canceled my trip an hour before I was to leave for the airport and began my road to a proper diagnosis.

A few days later, I traveled to an HHT care center Center three hours away, where I underwent a chest CT, six-minute walk, right heart catheterization and more. I then was formally diagnosed with PAH.

With the formal diagnosis, I knew life would never be the same. PAH and PH are often invisible diseases that can be hard to explain to others. They also make it hard to keep up a life that you once knew.

However, I knew there were two things I did not want to give up: work and my love of travel. Neither are easy with PAH, but they’re still possible.

Retaining life’s pleasures
With traveling, I have worked through trial and error of how to carry the proper medication; prepare for as many scenarios as possible with extra medication and supplies; board properly; secure ADA accommodations;, and figure out care wherever I go. I share my experiences through my Instagram account [@travelingwithoutboundaries] and blog[travelingwithoutboundaries.com].

At first, I didn’t think I could work full time with subcutaneous remodulin and site changes. But I figured out how to explain my condition to others and accommodations I need, such as remote work and flexible hours. I make sure to take the breaks to care of myself, and my family helps with medication shipments, pre-authorizations, scheduling appointments and so much more.

Finding community
I learned about the Pulmonary Hypertension Association after my diagnosis. While I followed my doctor’s advice not to Google PH right after diagnosis, I had many questions and I wanted to connect with others. PHA has the resources to answer any question you might have and connect you with caregivers and other PH patients.

I share my story because I’m not alone in having a delayed diagnosis. Without my gut intuition and the right doctors, I might not have found out about my PAH. I hope that sharing my story helps others, especially the small community of those with HHT and PAH. Managing both diseases together can be even more complicated than having just one or the other.

While life is not always easy with HHT and PH, it can be somewhat normal with proper support, medication and communities like those at PHA and online. You don’t always have to give up the things that you enjoy most.

HHT is a rare genetic disorder that causes blood vessel abnormalities. The abnormalities often cause excessive bleeding of the organs. The most common symptom is nose bleeds.

About 13 percent of people with HHT, also known as Osler-Weber-Rendu, have at least mildly elevated pulmonary artery pressures. HHT-associated PH can develop in two ways: through heart failure or a gene mutation. The two forms of HHT-associated PH are managed differently.

If you have HHT-related PH, consider joining our Facebook group. PHA formed the group last year with Cure HHT, a non-profit organization that advocates for patients, raises awareness, and funds and promotes research. Find all PHA support groups here.

Your story can help raise awareness about PH and associated conditions, too. Submit your story to PHA’s Right Heart Blog.