And yet, a multitude of reasons to escalate our voices for rare & rarely known disease recognition.

In relation to the previous post, I thought it necessary to share the story of a princess who ruled & conquered her kingdom at a tender age, in the prime of her life.

(As mentioned below about Jenna, in the – hospital memoir series – , I too related about being misdiagnosed with asthma despite pulmonary function tests proving no manifestation of asthma)

The story below conveys volumes of messages, there is no need for me to elaborate..

🔴 Take note of how she was diagnosed eventually! The reason why I continously reiterate ; if one test is clear & a person still has ongoing symptoms, it should be investigated further!

It tells the story of a young forest girl who steps on a magic thorn and falls gravely ill. The story follows the girl’s journey through many adventures and battles to a far off land. She is guided by a magical doctor to find The Magic Bissie Tree, her cure.

It’s about the generous people who help her on her way, the challenges she faces and the bravery she shows in the face of her rare condition. Little did the then eight-year-old Jenna realise that in some symbolic way, she was predicting and writing her own story.

Jenna’s avid thirst for knowledge ensured her a successful school career. She won many academic awards and accolades and had a particular passion for languages, history, politics and philosophy.

In 2011, whilst in Grade 10, she represented her school at Arch Bishop Desmond Tutu’s Youth Peace Summit. She also played the lead role in her school’s house play, was enjoying great long term friendships and had been selected to go to Sydney, Australia, for an exchange programme. Her life appeared to be perfect.

It was at around this time that Jenna started to become noticeably breathless. She breathed heavily, tired easily, needed more and more sleep and found exercise increasingly difficult.

Doctors conducted many medical tests, including an ECG, extensive blood tests, chest x-rays, echo-cardiograms, lung function tests and more. We could find nothing to explain her symptoms. But knew that something was very wrong.

Halfway through 2011 Jenna was misdiagnosed with Asthma. Relieved that we had ‘found the problem’, Jen was put onto asthma treatment and went ahead with the exchange to Sydney for three months … she came home in far worse condition than she left.

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.

Eventually it was a nuclear VQ scan and catheterised angiogram that confirmed our beautiful young daughter had an extremely rare lung disease called Pulmonary Arterial Hypertension (PH). This little-known, degenerative and life-threatening condition changed Jenna’s life – all of our lives – forever.

Finding treatment:

We committed ourselves to finding the right medical care. We also educated ourselves about Pulmonary Hypertension so that we could stay abreast of the latest medical knowledge and global treatments to improve Jenna’s quality of life and buy her more time.

From the beginning it was clear that, as with any rare disease, our involvement as a family in her medical journey was going to be vital. Social media and the internet helped us to find, connect and collaborate with the very best medical advice and PH Centres of Excellence around the world, specifically UC Denver, Colorado Hospital in the US, and St Vincent’s in Sydney. We left no stone unturned to find, fund and import treatments that would help Jenna and other PH patients in South Africa.

Despite this, Jenna became increasingly more ill. There was no way to predict her energy levels. She was robbed of oxygen and slowly lost more and more ability to conduct a normal life. Her regime of medicines was vast but her attitude was incredible. Jenna refused to become a victim or give up on her goals. Extraordinary dignity, courage and grace in the face of adversity exuded from her daily.

Living life to the full:

By mid 2012 Jenna was using a mobility scooter to get move around, as she could no longer walk without becoming completely short of breath and putting strain on her heart. By December of 2012 Jenna was living on supplemental oxygen 24 hours a day.

Nevertheless, she participated in and won the National Public Speaking Championship for Persuasive Speech during her Grade 11 year, and was made Deputy Head Girl of her school in her Grade 12 year.

Every day she slept for longer and longer. hours She had to grab the moments when she was strong enough to cope with going to classes, debating society and public speaking club, or just to get up and have a meal.

Together we rallied the Medical Control Council of SA and international pharmaceutical companies to bring in the drugs that Jenna needed. We held numerous fundraisers to pay for them and ran a highly successful media awareness campaign for Pulmonary Hypertension in order that other patients could get earlier diagnosis and, therefore, better care.

At the end of 2013 Jenna managed to write her final matric exams in a private room with an invigilator. She survived on six litres litres of oxygen a minute. Incredibly, she graduated with seven distinctions and 11 academic prizes from her school. She was also invited to the Premiers Residence to receive an Academic Excellence Award for being one of the top 30 students in the Western Cape.

More expertise is needed:

By December 2013 it became very clear that Jenna was rapidly deteriorating. With the help of Discovery Health, Prof Wilcox at UCT Academic Hospital, and our fundraising efforts, we flew Professor David Badesch, Director of the Pulmonary Hypertension Programme from University of Colorado Hospital in the US, and his nurse practitioner to South Africa.

Their intention was to see Jenna and oversee the introduction of an intravenous drug called Flolan, and hold symposiums in both Cape Town and Johannesburg to share their knowledge of Pulmonary Hypertension and treatment options with local doctors.

24 hour intravenous medication:

Flolan is an Intravenous Epoprostenol. It’s an extremely expensive and intensive management drug that and was delivered in minute amounts, with a special pump, directly into Jenna’s right heart chamber.

We built a sterile hospital room at home and fast had to become experienced homecare “nurses”. Jenna was the only patient in Africa to be on this drug. Given that it only had a 3 ½ minute half-life, these were scary times. It took an hour to mix the drug daily – an exacting 35 step sterile and exacting process in which there was absolutely no room for human error.

Ice bags were changed every six hours, pumps rotated to ensure there was no room for error, and central lines were changed three times a week. The drug was fed intravenously into her heart 24 hours a day, at a rate that was titrated gradually every month. Jen’s IV Epoprostenol had begun. This was the bridge to a transplant; a way to buy our girl more time. Once a patient is on Flolan you don’t come off it, not for a minute, as that could be life threatening.

In desperate need of a transplant

By early 2014 Jen was urgently listed for a bi-lateral (double) lung transplant in early 2014. Yet again we threw ourselves into doing our research. It was with horror that we realised South Africa has one of the lowest organ donation rates in the world: only 0.3% of the population are organ donors.

And yet there are at least 4,300 South Africans desperately awaiting a transplant on any given day. Who would have thought that South Africa, the location of the first ever heart transplant, was in a dire situation with regards to organ donors.

GetMeTo21 goes viral

Jenna took up the cause. She became passionate about raising awareness to increase the number of organ donors registered in SA. We educated ourselves once again and put together a Plea for Action and presented it to the Portfolio of Health Committee in Parliament.

We also rallied the media to help raise awareness and, with the help of Lowe Cape Town, Jenna’s award-winning, internationally acclaimed, Getmeto21 campaign was born. In its simplest form it was an invitation to the entire nation to attend her 21st birthday party. All you had to do to be there was sign up to be an organ donor.

Transplant

By now Jen was pretty much bed-ridden; our telephones never left our side in case we got “the call”. Those were difficult times. We knew she was getting worse by the day and the chances of finding the perfect organ match were slim. And yet, there was always hope.

At 9.10am on December 10th , 2015, the call came. A match had been found. We had four hours to move our lives and our precious girl to Johannesburg, complete with all her complex equipment, O2 and medication.

The evacuation plan kicked in to action. For months we had been ready and waiting a detailed document called Operation O2, which listed everything that needed to happen, how it was to happen and in what order, so that we could get her there in time.

Four hours later (not without some challenges along the way) a helicopter carrying Jen landed at the hospital. With her mom, dad, sister, Nurse Lizzie, Jen said her goodbyes and was and wheeled into surgery at 6pm.

The surgery was eight hours long and very intense. The surgeons said it was one of the most difficult surgeries they’d ever done. The Johannesburg skies punctuated the night dramatically with thunder and lightning as we waited during those eight long hours. Waiting had now taken on a whole new meaning.

Jen was wheeled out at 2am. She had survived the surgery! Hope flooded in, and so began six incredibly difficult and indescribable months in ICU.

Jenna spent six months in hospital for post-transplant care. Most of that time was in ICU. The lungs were an excellent match but her tiny body was wracked by gastro paresis, kidney failure, appendicitis and pancreatitis, amongst many other things that had gone wrong.

Jen was dealt far more complex health challenges than most post-transplant patients and she bore them with unique gratitude, courage, grace and dignity right up until the end. We had moved our lives to Johannesburg and we nursed her lovingly and fiercely 16 hours a day. It was an unimaginably traumatic time, with much pain and suffering.

Despite our continuous hope that she would recover, our beautiful Jenna passed away on the 8th of June, 2015. She was still in ICU.

Her dying wish was to encourage more people to become organ donors in SA. She also wanted to help other PH patients find treatment earlier and to start a lung transplant unit for state patients.

Jenna’s story is heart wrenching 💔💔💔 simultaneously astounding. Her encompassing legacy is indeed an asset to the rare disease community & a pristine example of living beyond…