Living With A Rare Form Of Pulmonary Hypertension

Runjhun Hajarnis, 34, suffers from PVOD, a largely invisible illness which is a variant of Pulmonary Hypertension, which, in turn, prevents her from living life as normally as she would want to. As she says: "No one knows just by looking at you how sick you are".

Please tell us about your present condition. Can you describe it?

I suffer from Pulmonary Veno Occlusive Disease (PVOD), a form of Pulmonary Arterial Hypertension. In this disease, the small blood vessels in the lungs become narrowed or blocked due to the formation of fibrous tissue or stiffening of the surrounding tissue. This blockage hinders blood flow to and from my heart, increasing the pressure in my lungs.

What were the early symptoms? What made you go to a doctor?

It started with me feeling unusually breathless after climbing 2-3 flights of stairs or walking uphill on slopes. I was unable to finish my workouts because I was feeling exhausted and somewhat dizzy. Later, I would feel completely breathless when I climbed just 1 floor or took a shower. This breathlessness was more like feeling suffocated and gasping for air. That was when I thought I should see a doctor.

When and how were you diagnosed? What tests were done? How did the diagnosis come about?

I started seeing the symptoms in early 2018. I used to feel tired, and my energy levels were low. I consulted my GP. He checked my vitamin levels, which were low at that time. He started me on a course of vitamin B12 and D3 injections. This helped a bit with the low energy and general tiredness but did not help at all with the breathlessness on exertion. I thought that the breathlessness was due to me being overweight and generally unfit. So I tried to exercise more to lose weight, but each time I was unable to finish. I had to stop after every 2-3 minutes for my breathing to be normal. During COVID, when my symptoms aggravated, I again went to a doctor in April 2020. He dismissed me by saying that I need to be more fit and that I have anxiety due to the pandemic. He prescribed me some anti-anxiety pills.

I knew about Pulmonary Hypertension (PH) because my elder sister had Idiopathic Pulmonary Hypertension. She succumbed to the disease when she was 20 years old. My symptoms were similar to hers. So I visited a cardiologist in May 2020. I told him that my sister had this disease, and now I have similar symptoms. He did an X-ray and found some haziness in my lungs. He told me that it is nothing to worry about. He also thought that I was anxious due to my sister's death, and the pandemic was making me feel strange things. But my sister had died in January 2008, so why was I anxious about my sister’s death after 12 years? I was prescribed anti-anxiety pills and told not to worry so much. I knew then this was neither anxiety nor me being overweight. Because no doctor was taking me seriously, I stopped trying to get a diagnosis.

But my condition continued to worsen. Now, even bending down, talking for long, and going to the toilet made me breathless. At that time, we had bought a pulse oximeter due to the pandemic. One day, I just checked my stats after climbing one floor. My heart rate was in the 150s, and my oxygen saturation was less than 65%. Now I was almost certain that I had what Didi had. I had no option but to keep consulting new doctors till I got a diagnosis. In August 2020, I again went to see a doctor. This time, a pulmonologist. I had to demonstrate to him how low my oxygen saturation goes and how fast my pulse gets after climbing a few stairs. Finally, this doctor took me seriously and ordered a few tests. An X-ray, a CT pulmonary angiogram with contrast, and a 2D echocardiogram.

The X-ray revealed an enlarged heart and haziness in the lungs. The CT scan showed an enlarged right heart, an enlarged pulmonary artery, and ground glass opacity. The ECHO also showed increased pulmonary pressures and an enlarged right heart. Thus, the diagnosis of Pulmonary Arterial Hypertension (PAH) was confirmed. But it doesn't end here. To determine my exact pressures, a Right Heart Catheterization (RHC) was performed. My pulmonary pressures were around 45 mmHg when the normal pressures should be below 20 mmHg. We sent all these results to a well-known cardiologist in Canada via a family friend living there. The cardiologist mentioned that the RHC results do not align with regular PAH. He mentioned that I might have PVOD and I should investigate further. That was the first time I had heard of PVOD. I looked it up online and was terrified by the information I got. The cardiologist who diagnosed my PH was not a PH specialist. We looked online to find any specialists and found one at Kokilaben Hospital in Mumbai. We went there in October 2020 with the results of all the tests done so far. He did a few more tests, like a Transesophageal Echocardiogram, a 6-minute walk test, and a normal 2D echo. He suggested that I do a genetic test, as my elder sister also had PH. He wanted to confirm if I have Idiopathic PH or Familial PH. The genetic testing results came after two months, i.e., in Dec 2020. We were expecting to find a mutation in the gene responsible for familial PH. Instead, we found a mutation in a gene that causes PVOD. Now, to confirm a diagnosis of PVOD, two out of three things need to be present. One is ground glass opacity on a CT, the second is a mutation in the gene EIF2AK4, and the third is a positive lung biopsy. In my case, the first two were present. The doctor decided not to do a lung biopsy as it is a risky procedure. At last, I got my diagnosis of Pulmonary Arterial Hypertension due to Pulmonary Veno Occlusive Disease.

What was your reaction to the diagnosis? How and when did you break it to your family?

As I had already sensed that I have PH, I was kind of relieved when I got the diagnosis because I felt like getting an answer to a question that was bothering me for the last 2 years. I immediately told my parents and husband about my diagnosis. They were all devastated. We cried over my diagnosis for almost 2 weeks. I was feeling very sorry for what they were going through. Especially my parents, as they had already lost a daughter to this disease. I got scared because Google said I would live for less than 2 years since I had PVOD. I believed it because my sister had died 20 months after getting her diagnosis.

What happened next? (specialist referral, course of treatment etc.)

I was put on ace inhibitors which relieved my symptoms to some extent. After about a year, I began to cough. And the cough was not going away. So, a diuretic was added to get rid of the water retention in the lungs, which caused the cough and wheezing. Later that year, my heart rhythm got a bit erratic. I was getting a lot of premature ventricular contractions (PVCs). To tackle that problem, a betablocker was prescribed. But this caused low BP, so it was changed to a pacemaker current inhibitor.

Did you have pre-existing health conditions?

No

What medications are you on?

Endothelin receptor antagonist - It widens the blood vessels so that blood can flow more easily.
Sildenafil - It widens the blood vessels so that blood can flow more easily.
Both the above medicines have different pathways to do the same task of vasodilation.
Diuretic to get rid of water retention.
Antiarrhythmic - To control my heart rate and rhythm.

Were there any side-effects of the medicines? If yes, how do you manage them?

All the medicines have side effects. Initially, when the vasodilator was started, I had severe nasal congestion for about 2 to 3 months. It was very difficult to lie down and to eat because I was unable to breathe through my nose. Slowly, as my body accepted the medicine, this side effect went away. It also caused severe acidity, which is a daily issue now. I keep an antacid handy with me at all times. Sildenafil causes strain and dryness in the eyes. The antiarrhythmic drug initially caused vision problems. I used to see little sparkly stars in my peripheral vision, and lights like car headlamps, tubelights, etc. seemed to move wonkily. That also went away after some time. The diuretic causes dehydration and I have to pee every half an hour for 3 to 4 hours after I take it.

What is your treatment pattern? Besides medication, what else do you do to heal and improve quality of life (diet, nutrition, exercise)?

Currently, I am on dual therapy. That is, I take 2 medicines that are specifically for reducing my pulmonary pressures, which will relieve the stress on my right heart. The other 2 medicines are supportive medicines that take care of specific symptoms like irregular heartbeat and water retention. Apart from the medicines, I have to be very careful about what I eat. If I eat heavy meals or carb-intensive meals, I immediately feel more breathless, and experience palpitations. Spicy, oily, and sugary foods aggravate my acidity. Hence, what I eat directly affects my health. Eating small meals and meals that are protein-rich and have a lot of veggies makes me feel better. I also try to exercise, but nothing cardio-intensive. I love to do strength training with very light weights, or just body weight. Breathing exercises also help. I like to sing, so I combine my breathing exercises with singing practice.

When I met my doctor in Mumbai who is a PH specialist, he asked me to go through an NT pro BNP test to check for heart failure status. Now, every 6 months when I consult him, I go through 3 tests: ECHO, 6 minutes walk test and NT pro BNP.

Have you had to make some changes to your lifestyle because of your condition?

PH has affected all aspects of my life. I have to think and plan everything I do. For example, my daily commute to my office, or deciding which restaurant to visit is based on things like what floor it is on and whether the building has a lift. I can't visit most tourist places as most places are not disability friendly. Any place where I have to walk for more than 20 minutes or climb steps or slopes, I avoid. These may seem not so big things, but they do affect my day-to-day life a lot. PH governs my life entirely. The major thing that is affected due to PH is having a child. The first thing that the doctor advises you is that pregnancy is a major contraindication for PH patients.

Does your condition come with any complications? If so, please elaborate.

Any type of surgery becomes extra risky when anesthesia is used. I have to check with my PH doctor before taking any other medicine, as it could clash with my PH medicines.

What are your main challenges and what is your advice to patients who face similar challenges?

There are different types of challenges that I face with PH. Physical challenges like fatigue, palpitations, breathlessness, etc. The body adapts and gets used to it. Sometimes I get very frustrated when I am unable to do things that I want to or need to. But I have to listen to my body. Whenever I have tried to push too far, I have faced consequences. My condition has deteriorated. The other major challenge facing patients is that PH is an invisible illness. No one can know just by looking at you how sick you are. In the last five years of living with PH, I have met several people who don't believe me. People, including doctors, think that I am exaggerating and that my condition is not as serious as I am portraying it to be.

What kind of specialists do you consult (including Physio/Occupational therapist/Psychiatrist etc.) and how often?

I started psychotherapy after I was diagnosed because it was too much for me to handle. Currently, I am seeing a psychologist and a psychiatrist to help me cope with life with PH. I briefly tried cardio-pulmonary rehab, but now I exercise at home only. I self-monitor.

Did you have to travel outside your city for medical treatment?

When I was diagnosed, I lived in Ahmedabad. So I used to travel to Mumbai every six months for my appointment with my PH specialist. Now I have shifted to Mumbai.

Have you tried alternative medicines or therapies, like ayurveda, homeopathy, siddha?

No. I don't trust anything that is not science/research-backed.

We know you have a family history of this condition. Was genetic testing done for your sister?

Genetic testing was conducted for me. Not for my elder sister. We believed she had Idiopathic PH. Since I have tested positive for PVOD, we think that she might also have had PVOD.

Has it been difficult emotionally to cope with your condition?

Yes. I am always disappointed with my body. I feel trapped. I want to go out with friends and have fun, but PH won't allow me to do so.

How has your family supported you?

My family is the oxygen that I survive on. My husband is the most loving and caring person. My parents are there for me at all times. I have immense support from my family.

When did you break the news to your friends and distant relatives? How did they take it?

I told my friends and distant relatives after a couple of weeks. Some were shocked, but everyone was supportive.

Any personal anecdote you’d like to share with us.

Taking wheelchairs at airports. People look at my legs and get confused when I stand up and start walking. Not looking sick makes it difficult to convince people that you are in fact sick.

What are you worried about for the future?

I am very afraid of getting a lung transplant, as it is the only cure for this. Currently, I am not that sick that I need one. But I am afraid of the time when there will be no other option left.

As told to Moyna Sen