Jenna’s Medical Journey and More About PH
In January 2011 Jenna started to become noticeably breathless. She breathed heavily, tired easily, needed more sleep and found exercise increasingly difficult. We conducted many medical tests, including an ECG, extensive blood tests, chest x-rays, echo-cardiograms, lung function tests and more. We could find nothing. Half way through 2011 Jenna was misdiagnosed with Asthma. Relieved that we had ‘found the problem’, Jen was put onto asthma treatment.
In January 2012, now aged seventeen, Jenna was hospitalised for the first time. She could no longer walk even a few meters without collapsing with breathlessness. So began the slow and difficult process of finding the correct diagnosis. A nuclear VQ scan and catheterised angiogram confirmed our beautiful girl had an extremely rare lung disease called Pulmonary Arterial Hypertension (PH). This little-known degenerative and life-threatening condition changed not only Jenna’s life, but all of our lives, forever.
What Is Pulmonary Arterial Hypertension?
The reading matter on PH can be confusing and dense, so I have tried to simplify it as much as possible. Some of the information is very specific to Jenna’s journey; if you want more of the medical speak simply Google “Primary Pulmonary Hypertension or Primary Arterial Hypertension”.
In essence, Pulmonary Arterial Hypertension (PH) is a progressive, degenerative disease caused by the narrowing or tightening of the veins and arteries in the lungs.
By definition, PH is characterised by an increase in the mean pulmonary arterial pressure and the gold standard test for this final diagnosis is an invasive, catheterized pulmonary angiogram. As PH develops, blood flow through the pulmonary arteries is restricted and the right side of the heart becomes enlarged due to the increased strain of pumping blood through the lungs. It is this strain on the heart, and decrease in blood to the left heart and systemic circulation through the lungs, that leads to the most common symptoms of PH, such as severe breathlessness, fatigue, weakness, angina and fainting.
How Common Is PH?
PH has an annual incidence of one to two cases per million people in the US and Europe. It is two to four times as common in women as it is in men. The mean age at diagnosis is around forty-five years, although the onset of symptoms can occur at any age. In short, it can strike anyone.
Unfortunately, PH is often diagnosed when patients have reached an advanced stage of the disease. It is rare, and difficult to diagnose, and the most common misdiagnosis is Asthma. Jenna was already World Health Organisation Category III by the time we reached final diagnosis. She went through very many expensive tests along the way, from regular blood tests, lung function tests, oxygen saturation tests, CT scans, lung x-rays, VQ scans, MRIs, CT Venogram, catheterized pulmonary angiograms, walk tests, ECGs and more.
What Are The Symptoms Of PH?
The symptoms of PH are caused by extremely high blood pressure in the veins and arteries of the lungs only (NOT to be confused with high blood pressure in the whole body), which restricts blood flow through the lungs. This results in increased stress on the heart and compromised blood circulation through the whole body, due to decreased cardiac output and low oxygen saturation.
Oxygen desaturation impacts severely on any PH patient’s ability to exercise or carry out normal daily activities. Jenna’s O2 levels were very low; she used to say that if you block your nose and breathe through a straw for an hour you may start to get an inkling of how it feels to be 02 deprived.
Common early symptoms of PH include:
- Breathlessness particularly during physical activity
- Excessive Fatigue
- Syncope (fainting) also on physical activity (rare)
- Peripheral oedema
- Chest pain, again particularly during physical activity
The symptoms may not be obvious at first and are often attributed to more common conditions such as asthma, general fatigue, or lack of physical fitness. Over time, however, they can become more severe and begin to limit normal activities. As the disease progresses, some patients may experience constant breathlessness and fatigue so that even simple tasks, such as getting dressed and walking short distances, become difficult.
What causes PH?
The exact cause behind the development of PH is not known. However, research has led to a better understanding of underlying pathological mechanisms. PH is recognized as a complex, multi-factorial condition involving numerous biochemical pathways and different cell types.
Endothelial dysfunction, an abnormality of the inner lining of blood vessels, is believed to occur early in disease pathogenesis. This leads to endothelial and smooth muscle cell proliferation, followed by structural changes or remodelling of the pulmonary vascular bed, which in turn results in an increase in pulmonary vascular resistance.
Treatment of PH
Not so long ago there were no treatments for PH and prognosis was one to three years. This has recently changed and there are many drugs on the market to help prolong life expectancy. The earlier you’re diagnosed, the better your chances are of enjoying a longer life.
One of our major frustrations as a family was that the majority of the treatments for PH are NOT available in South Africa. This can greatly impact the lifespan of a patient, as the treatment of PH should have a multi-dimensional approach for the best results:
- Anti-coagulation– inhibiting the blood’s ability to clot, so that it doesn’t form blockages in the constricted arteries as it flows through smaller vessels than in healthy lungs, which needs to be carefully monitored with regular blood tests.
- Oxygen Therapy– Jenna had a portable oxygen machine we called “Oxy-Jen”, as well as a stronger, bigger home oxygen machine we called “Thunder”.
- Phosphodiesterase (PH5) Inhibitors– Sildenafil, a vasodilator, expensive but available locally.
- Endothelin Receptor Antagonists– the dual endothelin (ET) receptor antagonist Bosentan was the first oral drug shown to be efficacious in PH and has been used extensively in this and other types of PH since its introduction in 2002. It is not available in SA but we imported it specifically for Jenna with permission from the MCC that had to be obtained each time.
- Prostacyclin and its analogues– for the last year of Jenna’s life she was on a continuous infusion of Epoprostenol (Flolan), a prostacyclin. These drugs are difficult to administer, meticulous care is needed, and are outrageously expensive and are not available in SA. They are considered a precursor to lung transplantation. Jenna was on Flolan on a compassionate basis from Glaxo SmithKline in the UK. It was administered 24 hours a day through a pump and central line that delivered the medication directly into her heart and we set up a sterile hospital room at home in order to mix and administer the medication.
- Limited Exercise and good nutrition– very limited exercise to lessen the strain on the heart was accomplished with the use of Jen’s mobility scooter, and of course good nutrition is vital for anyone taking into account specific dietary requirements for those on blood thinners (warfarin).
- Lung Transplantation– patients who fail to respond to medical therapy should consider the option of lung transplantation, bearing in mind that this is difficult surgery and statistically predicted survival rates are less than satisfactory.
Jenna was actively listed for a bi-lateral (double) lung transplant in May 2014 and received her transplant in Johannesburg, South Africa on the 10th of December. She showed the most incredible courage and dignity but Jen didn’t leave the hospital for six months thereafter. She passed away on the 8th of June 2015.
Resources for PH patients that we found particularly useful
New Clinic: In 2014 a tertiary specialist clinic for the management of pulmonary hypertension, creating a centre for excellence to drive patient management and research for this rare disease, was started at Grooteschuur Hospital in the Western Cape. For information please contact Dr Greg Symons, Division of Pulmonology, Department of Medicine, University of Cape Town, directly on GJ.Symons@uct.ac.za
Getmeto21 Quick Facts
In October 2014, twenty-year-old Jenna Lowe invited the entire nation to her 21st birthday ... the results were astounding… watch her invitation here (add hyperlink to Jen’s video on getmeto21 site).
Her video went viral, it was all over social media, in every newspaper and on radio and television. This was the single most successful call to action for organ donors in South Africa, with more than 20 000 new organ donors signing up in just three months … a 287% increase in donor registrations and well over R14 million in media generating awareness for the dire situation of organ donating in SA. Read more facts here about Get Me To 21
Organ Donation Quick Facts
Even though SA is the home of the first ever heart transplant less that 0.3% of our population are organ donors. On any one given day there are at least 4,300 people awaiting an organ transplant. It is quick, easy and costs nothing to become a donor. Your organs could save up to seven lives when you die. Visit Get Me To 21 or Organ Donor Foundation
Rare Diseases Quick Facts
Did you know that over 7,000 different rare diseases have been identified to date, directly affecting the daily life of more than 350 million people worldwide? The complex nature of rare diseases, coupled with limited access to treatment and services, means that family members are often the primary source of solidarity, support and care for their loved ones. The Rare Disease Society of SA has become a crucial source of information, experience and resources for families affected by rare diseases in South Africa. Find out more information on the Rare Diseases SA website.
Pulmonary Hypertension Quick Facts
Pulmonary Hypertension is a progressive, degenerative disease caused by the narrowing or tightening of the veins and arteries in the lungs.
Common early symptoms of PH include:
Breathlessness (particularly during physical activity); excessive fatigue; dizziness; fainting; peripheral oedema and chest pain (particularly during physical activity). Learn more about Jenna’s particular journey with PH.