The Lowe family is raising awareness for a rare condition to give others what their daughter didn’t have: an early diagnosis.
An ordinary girl with extraordinary courage and determination
Jenna Lowe (19) has an extremely rare and life-threatening condition called Pulmonary Arterial Hypertension (PAH) for which she has to be permanently attached to an oxygen tank.
Her symptoms started in January 2011, and after months of tests and doctors visits she was diagnosed and treated for anxiety-induced asthma. She kept getting worse and it was only 18 months later that a test that showed scores of blood clots on her lungs lead to the correct diagnosis. Jenna was hospitalised immediately and the family began a long, costly battle to find the right treatment for her.
PAH is a degenerative and incurable disease where high blood pressure within the lungs causes the walls of the arteries to tighten and stiffen. Eventually PAH can lead to heart failure.
Early diagnosis means longer life
Jenna’s current treatment includes a numbers of tablets: Blood thinners (to prevent more blood clots), and several types of vasodilator (to keep the vessels from constricting), adding up to around R60 000 a month. But, Jenna’s condition is still getting worse.
“That means I started too late,” says Jenna. It’s a common problem with PAH. It’s difficult to diagnose, partly because it is so rare – the incidence is one in a million – and partly because the symptoms are non-specific: Breathlessness, feeling tired all the time, light-headedness and fainting -especially when climbing stairs or standing up, swollen ankles, legs, or belly and chest pain. And the longer it goes without treatment, the harder the disease is to control.
Raising awareness, raising hope
“Not so long ago there were no treatments for PAH and prognosis was one to three years – this has changed over the years and there are many drugs on the market to help prolong life expectancy. Your chances at a longer life are better the earlier you are diagnosed,” says Jenna’s mom, Gabi.
For this reason the Lowe family is committed to raising awareness for people with PAH. By sheer perseverance, courage and hard work, Gabi has almost singlehandedly changed the face of medicine in this country for this condition.
“I started to reach out to international doctors who worked with a variety of medications. I read journals, clinical trials, and hundreds of research papers about PAH and what worked for those patients. When it’s your child, you do everything in your power,” says Gabi.
The only option left to prolong Jenna’s life is a medication that is not registered and not available in SA, and therefore not covered by any medical scheme here. It was a five-month battle to get all the approvals in place to import an intravenous drug called Flolan, but it is now available on exceptional, compassionate grounds for Jenna.
Also as a result of the Lowe’s campaign, Discovery Health brought Dr Dave Badesch, a leading PH authority from the University of Colorado, Denver (USA) and his nurse to South Africa in December to administer the initial doses of the medication to Jenna. Some of Dr Badesch’s patients have been using the medication for 10 and 15 years.
Along with working with Jenna’s treating physicians, Discovery and Dr Badesch hosted seminars in Cape Town and Johannesburg to train pulmonologists and cardiologists, and other specialists, on the condition.
Making every moment count
Through the Lowe’s campaign to bring awareness to the illness, one woman has already directly benefited. When the 62-year-old woman heard Jenna talking on the radio she asked her doctor about pulmonary hypertension and was correctly diagnosed.
Despite missing months of school Jenna achieved 10 academic awards at her final year prize giving. In addition to being top of her grade in English, history, drama and business studies, she received awards for an 85% aggregate in the last two years, a cup for outstanding performance in dramatic arts, and a trophy for outstanding achievement for academics, leadership and public speaking. She was also a national public-speaking champion and is deputy head girl. Even though she sometimes had to be woken whilst writing her matric exams, this determined young lady managed to achieve 7 distinctions with marks ranging from 91% to 97%. She has been awarded the Premier’s Merit Award for Academic Excellence as well as a faculty scholarship to the University of Cape Town.
“I have made sacrifices, but I have decided that the way I want to live is with positivity, with joy and love.” And with this attitude, anything really is possible.
Working tirelessly to raise awareness about rare diseases
The Rare Disease Association of South Africa is a registered non-profit organisation that aims to create awareness about life-threatening rare diseases. A group of concerned parents started the association to shine the spotlight on children and adults living with diseases so rare that people don’t know what they are, much less how to support and / or care for those affected by a rare disease diagnosis.
The Association classifies a rare disease as one where less than 1 in 4 000 people are affected. Do your part in raising awareness by supporting the Association’s awareness and fundraising efforts. Details on their website, http://www.rarediseases.co.za/ or call their hotline on 072 476 7552.
Discovery Health supports international collaboration
Stories like Jenna’s made Discovery Health realise that there are times when the doctors who treat Discovery Health Medical Scheme members may wish to work with other experts in a particular field of medicine, especially where a patient is facing life-threatening or life-changing conditions and particularly where new treatment methods may be indicated. Scheme members and their treating doctors now have access to a world-class online second-opinion service in the form of Cleveland Clinic’s MyConsult® programme. This value-added service is available for members on the Executive and Comprehensive Plans. Discovery Health fully supports the amazing work done by specialists in this country, as well as the growing trend towards international knowledge-sharing. We are proud to facilitate the further advancement of expertise designed to improve treatment outcomes for our members and ultimately society as a whole.
The Discovery Foundation is an independent trust set up by Discovery Limited with the primary objective of investing in healthcare resources in South Africa through a series of annual awards and grants. The Foundation invests in specialist training, clinical research, rural healthcare and healthcare leadership. To date it has invested over R106 million in the training of 213 recipients, including the recipients of 2013.