Rarity Mag | Issue 06 | Oct Nov Dec 2022

Rarity.

Includess RARE NEWS

FOR ZACH

Expedition Uprising

WILD

DEEMED

COVER FEATURE

NICOLE CAPPER TALKS US THROUGH HER LATEST ADVENTURE AROUND SOUTH AFRICA IN AN EFFORT TO EMPOWER WOMEN AND RAISE FUNDS FOR RARE.

Issue Six

ON THE COVER Nicole Capper

Cover photo credit @clint_vet DESIGN AND LAYOUT jane doe.

The Team

EDITOR IN CHIEF Missy Hayes

CONTRIBUTORS

Dr Helen Malherbe Marianne Gomes Missy Hayes Nomsa Mtshali Kelly du Plessis Natasha Nass

ADVERTISING

Missy Hayes

editor@rarediseases.co.za

research@rarediseases.co.za genetics@rarediseases.co.za events@rarediseases.co.za hello@rarediseases.co.za info@rarediseases.co.za design@rarediseases.co.za

editor@rarediseases.co.za rarediseasessa

RarediseasesSA rarediseasesSA rarediseasessouthafrica

Rare Diseases South Africa RareDiseasesSA

Rare Diseases South Africa

Rare Diseases South Africa

External Contributors

Michelle Marais Michelle Bisschoff

Fawn Kruger Stella de Kock

Paul Nel HJW Attorneys Danielle Gal

A Look Inside Issue 06

EDITOR'S NOTES

A word, or two, from our Editor, Missy P. 4

CALENDAR

Upcoming events and awareness days P. 6

BUSINESS Branding is Queen P. 10

ON THE COVER Expedition Uprising P. 14

FEATURED Expedition Uprising

RARE-VOLUTIONARY

Why resilience is key in the rare disease community P. 18

PATIENT PROFILES

Wrongful diagnosis P. 22

OUT & ABOUT Food for the soul in Magoebaskloof P. 24

FEATURED

10 THINGS...

Must-haves for a successful camping trip P. 28

Food for the soul in Magoebaskloof

RESEARCH

The MADD Research Project P. 30

Genetic testing hubP. 32

RARE NEWS

Victory for HJW Attorneys and medical aid members P. 34

DAD DIARIES

Life with a rare disease is anything but normal P. 38

KIDS & BABIES In unchartered waters P. 40

BEAUTY

Into the wild: Exploring 2022's top beauty trends P. 44

HEALTH

Why are organ donors deemed foreign in our black community P. 46

TAKING IT OFFLINE

Must visit online profiles P.

SUPPORT THE SUPPORTERS

Tell: Scary facts about organ and tissue donation P.

FEATURED Victory for Zach

FEATURED

Why are organ donors deemed foreign in our black community

Editor's Notes

Well, folks that’s a wrap for Rarity 2022. What a wild ride it has been! 2022 seemed to flash by in the blink of an eye

This is actually my favourite time of the year, summer’s coming in hot, every flower is blossoming and who doesn’t love the summer rain?! Not only the season excites me, but I also feel as though it’s the perfect time for reflection to slowly digest what your year has taught you, the good, the bad and the ugly. As cliché as it may be, there are lessons in everything.

In this issue we take you on a once in a lifetime adventure with the likes of Nicole Capper as she and seven more phenomenal women take on the ultimate outdoor chal lenge in Expedition Uprising, with funds being donated to Rare Diseases South Africa.

In our adventure themed issue, we travel the beautiful mountains of Magoebask loof in Limpopo. We give some top tips for

the camping trips you may take this holiday and for those of you who won’t be travel ling, we’ve set you up with the best travel podcasts out there, so it’ll feel like you’re doing the exploring yourself!

We’ve touched on our case with the de Wet family and their fight for their son, Zach against a medical scheme refusing to cover his treatment. Spoiler alert, we won!

As it is our last issue for 2022, on behalf of our team at Rarity we’d like to wish you a wonderful Festive Season. We hope that your holiday time is filled with all the love, good food and constant laughter.

Without further ado, I invite you to escape in the pages of Rarity.

Missy

MISSY HAYES EDITOR, RARITY MAGAZINE

Awareness DaysCalendar

OCTOBER

BREAST CANCER AWARENESS MONTH

Every October, major breast cancer charities organize an international health campaign to raise awareness of the disease and funds for research into its cause, prevention, diagnosis, treatment, and cure.

WORLD SPINA BIFIDA MONTH

October is Spina Bifida Awareness Month, a time to rec ognize the hundreds of thousands of people who have the condition. Every October, community stories are shared to inspire others to do more to raise awareness and support for those affected by Spina Bifida.

LIVER DISEASE AWARENESS MONTH

Liver Disease Awareness Month encourages you to take preventative measures. With early detection, you can double your survival rate.

PITUITARY AWARENESS MONTH

Pituitary Awareness Month is used to advocate for better and ongoing training for pituitary patients' health care providers on the importance of administering life-sustain ing replacements. It is critical that people suffering from conditions such as adrenal insufficiency and diabetes in sipidus feel safe entering a hospital and have confidence that they will receive the necessary treatment.

PREGNANCY & INFANT LOSS AWARENESS MONTH

Pregnancy and Infant Loss Awareness Month is October. A single month dedicated to raising awareness of the most traumatic loss of all: the loss of a child.

ADHD AWARENESS MONTH

ADHD Awareness Month highlights the most recent research and clinical studies in order to bring more ef fective treatments. Its guiding principle is that life can be better for those who have ADHD as well as those who love or work with someone who has ADHD.

DOWN SYNDROME AWARENESS MONTH

Down Syndrome Awareness Month is a time to celebrate and remind everyone that people with the syndrome are capable of accomplishing anything they set their minds to.

RETT SYNDROME AWARENESS MONTH

Symptoms of Rett Syndrome may not appear until six months to 18 months after a female infant is born. One day, your child will be healthy and happy, grasping for things like a baby. The next day, you notice she's having difficul ty speaking, moving, breathing, and even throwing temper tantrums.

These are just a few of the signs of Rett Syndrome, a neu rological disorder that primarily affects females. This disorder, which affects all racial and ethnic groups around the world, may be caused by a mutated gene.

DWARFISM AWARENESS MONTH

Dwarfism is a medical condition that the general public does not fully comprehend. In fact, dwarfs and people of short stature are frequently mocked and portrayed in un flattering ways in the entertainment industry. As a result, dwarfs are stereotyped in modern films and other forms of entertainment. However, if environmental barriers are reduced, people born with dwarfism have the same ability as average-sized people, whether in the real world or in the world of entertainment.

EYE CARE AWARENESS MONTH (21 SEPTEM BER-18 OCTOBER)

From September 21 to October 18, Eye Care Awareness Month is observed to raise awareness about the impor tance of eye health, particularly the prevention and treat ment of avoidable blindness. Seventy-five percent of all cases of blindness are preventable or treatable, which is why it is critical to have your eyes tested at least once a year.

DYSAUTONOMIA AWARENESS MONTH

Dysautonomia is an "umbrella" term that refers to several neurological conditions. Dysautonomia is defined as an autonomic nervous system dysfunction (ANS). The ANS regulates all your body's automatic functions, such as heart rate, blood pressure, temperature regulation, res piration, and digestion. POTS (postural orthostatic tachy cardia syndrome) is a type of dysautonomia in which a person's heart rate increases by at least 30 beats per minute when standing.

NATIONAL INHERITED DISORDERS DAY (SA)

INTERNATIONAL GAUCHER DAY

WORLD SMILE DAY (CLEFT LIP/PALATE)

WORLD CEREBRAL PALSY DAY

INTERNATIONAL PLASMA AWARENESS WEEK

WORLD MENTAL HEALTH DAY WORLD SIGHT DAY

NATIONAL CASE MANAGEMENT WEEK

WORLD ARTHRITIS DAY WORLD HOSPICE AND PALLIATIVE CARE DAY WORLD BONE & JOINT WEEK

NOVEMBER

CAREGIVER AWARENESS MONTH a month-long awareness campaign to support, thank, and rec ognize those who devote their lives to providing care to those in need.

PULMONARY HYPERTENSION AWARENESS MONTH

It is critical to raise pulmonary hypertension awareness in every community. Increased awareness results in better care for PAH patients, more referrals to pulmonary hypertension speciality centres, shorter time to diagnosis, and more funds for research into new treatments and, potentially, a cure.

LUNG HEALTH AWARENESS MONTH

Lung health has been a source of concern and fascination for doctors, nurses, and scientists throughout history. Tuberculosis, the flu, and a variety of other airborne illnesses have been around for a long time, looming over societies like a deadly blanket.

NATIONAL DISABILITY RIGHTS AWARENESS MONTH (SA) 3 NOV- 3 DEC

South Africa celebrates National Disability Rights Aware ness Month annually between 3 November and 3 December. 3 December is the International Day of Persons with Disabilities and is also celebrated as National Disability Rights Awareness Day.

WILSON’S DISEASE AWARENESS MONTH

Wilson disease is a rare genetic disorder characterized by excess copper storage in various body tissues, most notably the liver, brain, and eye corneas. If left untreated, the disease progresses and can lead to liver (hepatic) disease, central nervous system dysfunction, and death.

DISABILITIES AWARENESS WEEK

SPINE DAY

GIGANTOMASTIA AWARENESS DAY

NATIONAL DOWN SYNDROME AWARENESS DAY WORLD OSTEOPOROSIS DAY

INTERNATIONAL MASTOCYTOSIS & MAST CELL DISEASES AWARENESS DAY

POLIO DAY

WORLD SPINA BIFIDA & HYDROCEPHALUS DAY

DWARFISM AWARENESS DAY

PRIMARY SCLEROSING CHOLANGITIS DAY

ACROMEGALY DAY

COUNSELLOR AWARENESS DAY WORLD DIABETES DAY

CARE WEEK

PREMATURITY DAY

PERSONS

OF

Upcoming Events

947 RIDE JOBURG

Use your mobilty to benefit others and #Rid e4Rare! All FUNdraisers will receive an official, unique team jersey, goodie bag, pre and post ride hospitality and an earlier start time (time to be confirmed).

Click here to register

RARE RESEARCH WEBINARS

UBOMI BUHLE - a preg nancy exposure registry in South Africa focussing on improving maternal and newborn health care 11:00am-12:00pm

Speaker: Dr Ushma Mehta CPD Accredited

Click here to register

29

GIVING TUESDAY

2022

Pledge to use your #Swear ingForCaring on November 29th, as part of #Giv ingTuesday,and use your #ProfanitiesForPurpose

Click here to get involved

ARTICLE Natasha Nass

Branding is Queen

Whether you love or hate the British Monarchy, it has to be said that both it (as an institution) and Queen Elizabeth II (as a personal brand) are two of the most powerful and recognised brands globally.

The 8th of September was a dark day as the world mourned the death of one of the most famous female icons in history. There are many reasons Queen Elizabeth was so recognisable but her commitment to her brand promise to "live a life of service" - honouring royal duties right up until 2 days before her death at age 96 – is why she was such a formidable brand asset.

Let’s back up a bit and talk ‘brand’ for a minute. What exactly is a brand?

A brand is the experience an audience has with a business. It’s the way a business relays who they are and what they do in order to set themselves apart from the competition and helps to build relationships with a target audience. Businesses should consider the following when crafting their brand:

VISION

Aka defining your brand. When you are developing a brand it’s important that you have a clear vision of what your business stands for – it’s values and beliefs - what you want to achieve and who you want to reach with your product or services. At its heart, a brand connotes a set of expectations, often called a brand promise. Such a promise needs to be authentic, consistent and valued by consumers. This strategic step in defining your brand promise may seem like the least “fun” part but I will tell you this for free, it’s

the most important. Skip this step and you may as well pack it all in now.

VOICE

How you communicate and educate your potential clients plays a big role in the development of your brand. The tone you use to connect with your audience sets you apart from the crowd and makes you instantly recognisable. Is that tone serious or is it quirky and playful? This must link back to your values in step one but whatever it is, define it and be clear about it.

VALUE

Guess what? It’s not about you.

Please for the love of all that is good and decent do not talk AT your audience. Not unless you want them to behave like a moody teenager who slams their door in your face.

Instead think about what issues your potential clients are having, how you are providing a solution (okay, so it is about you a little) and the result they can expect when they use your product or service.

Don’t spray and pray - know who you serve. Stick to this recipe of problem, solution, result and you’ll be golden.

VISUALS

A brand is much more than just a logo. I repeat, A BRAND IS MUCH MORE THAN JUST

A LOGO. A brand is ALL the touchpoints that your audience will interact with. If I had a rand for every time a client believed that a logo was all they needed I’d be sipping Moet in my own private villa by now. You cannot expect your logo to do all the heavy lifting, nor should you.

Invest in your brand story and all the places it needs to be told for those who need to hear it. Otherwise you simply have a great business idea that will die a slow and painfully lonely death. Consistency is key.

Now, let’s scrutinise the British monarchy through this branding lens.

For the past seven decades, the British Monarchy, with the Queen at its helm, has built and lived the royal brand. The Queen’s brand promise dates back to 1947 to a speech made in South Africa when she was only a princess. She emphasised “a life of service” and this became the key message of her reign. In one passage she said: I declare before you all that my whole life whether it be long or short shall be devoted to your service and the service of our great imperial family to which we all belong.

The visuals of the royal brand are everywhere. The symbols of monarchy: the crown, the royal cypher (or the monogram of the reigning

IMAGE CREDIT CHRIS DORNEY SHITTERSTOCK

royal, which for Queen Elizabeth II was “EIIR” for Elizabeth II Regina) and royal coat of arms are powerful brand symbols that are akin to trademarks. And while her image has adorned coins, banknotes, stamps and portraiture the world over, it was the Queen’s inimitable brand values that helped build and grow the brand.

Queen Elizabeth II clearly understood that “the customer is king”. As the head of a constitutional monarchy, she seemed to realise that it was more appropriate to speak of “a people with a Queen” rather than “a Queen with a people”. Tellingly, in her jubilee letter penned earlier this year, the Queen signed off with “Your Servant, Elizabeth R”.

To maintain brand success, Her Majesty had to meet the “five Rs” of the royal branding mix, developed by Professor of Corporate Marketing at Brunel University in London, John M.T. Balmer, as part of his research into monarchies in the UK and Scandinavia. The monarch needs to be:

R oyal (having a special status, as defined by the state),

R R R R

egal (behaving in a manner befitting a monarch, including the use of royal ceremonies),

elevant (being meaningful to country), espected (having the approval of the people) esponsive (accommodating change).

Branding speaking, and otherwise, the new King has big shoes to fill to uphold the dignity, traditions and symbolism of the monarchy, so dearly lived by Queen Elizabeth, to ensure the royal brand continues to thrive.

Uprising Expedition

ARTICLE Missy Hayes

From the stage of Mrs South Africa to the deserted island of Survivor, meet Nicole Capper. Mom, Rare Ambassador and total bad ass! Nicole talks us through her latest adventure around South Africa in an effort to empower women and raise funds for Rare.

Please briefly tell us about yourself, and what you do?

I’m Nicole Capper, firstly I’m Mama Bear to two brave mini adventurers. I’m a Functional Medicine Pharma cist and TV Personality & Presenter. I was crowned Mrs South Africa in 2018 and I was the runner up for Survivor SA season 7.

I’m currently the VP Sales for Humanz Africa and a Rare Diseases SA (RDSA) Ambassador & Exec Board Member. I believe in having diverse interests, and outside my career leading a team in influencer market ing tech, I take people on transformational journeys all over the world with my non-profit Uprising.

What inspired Expedition Uprising?

Uprising is an NPO started in 2019 with the aim of raising funds for RDSA because of my baby girl. The vision was always to take people trekking for a purpose, mostly for their own transformation and for RDSA.

How did you all get involved in Expedition Uprising?

My daughter was diagnosed with Cystic Fibrosis at 6 weeks old and spent the first 2 months of her life in ICU

fighting for her life and it made me realise I wanted and needed to be an example to her, and I had actually been living in fear. So, she was my catalyst for change, and I took on my fears starting with Mrs South Africa in 2018.

From there I founded Uprising after my first climb to Everest Base Camp where I nearly died from altitude sickness, and I had to be airlifted to Kathmandu. But I discovered my passion for the mountains.

To get everyone else involved, I just asked, and the right people put their hands up. Two of my greatest life rules are say yes and figure the rest out later and put your message and purpose out into the world and the right people will align with you. Don’t fight for the wrong people because when your attitude and values align, so does your mission.

How did you prepare for this adventure?

I’m always mountain ready as it’s my greatest love (apart from my family). I always maintain a basic level of fitness to go out and tackle the climb and explore the mountains. This was more of a mental challenge for me to prepare for. I needed to mentally prepare for what I wanted to achieve and how we could take the viewers on a journey that would get them to fall in love with the process too.

It’s never about the destination or the summit of a mountain, it’s always the journey and the love of the journey that keeps people coming back. So, it was my mission to take the viewers and the ladies on the show, on a journey of self-discovery and acceptance and absolute adventure so that everyone could fall in love with South Africa and their own potential.

This must have been a once in a lifetime experience, tell us about your favourite memory from Expedi tion Uprising?

My favourite memory wasn’t even climbing, funny enough. My favourite memory was sitting in a kayak paddling around Ebenezer Dam along the mountains of Magoe baskloof and as we got around the bend we witnessed the sunrise and coming over the pine forest and it felt so emo tional to experience such beauty, and some kids will never get to experience it because of diseases like Cystic Fibrosis or other disabilities as a result of a rare disease.

So, at moments when I felt tired and sore, I thought of the privilege I have because it’s not hard. Hard is the fight that rare disease patients have every day- especially silent diseases with no one to advocate for them so it will always remind me of my purpose and that special moment on the dam.

Is there anything you wish you had taken along with you that you didn’t have? (Only one thing!)

I’m not really a things person, I never long for things, even on Survivor on a deserted island for 39 days, what I would’ve taken is a pet rock that my kids painted for me as it reminds me of them. I always feel like you can make a plan for the things you need. The only “thing” which isn’t a thing that I would want to take with me is my kids so that I could share the experience with them, but I will be taking

them to all these places at some point so we can share the adventure together.

Talk about girl power, we know you ladies can tackle any challenge thrown your way, what were some of the challenges, if any that you faced on this adven ture?

It was a unique opportunity to see women thriving in their own power. Collectively us ladies are moms, businesswom en, students, chefs, artists, and creatives, not necessarily sportswomen and the women who joined in on Expedition Uprising weren’t necessarily adventurous, but they thrived just holding their own space and not needing anyone’s support to overcome obstacles and it was so beautiful to watch.

We tackled things from rock-climbing to abseiling 30m cliffs to kloofing and jumping off waterfalls. We climbed the highest fixed lined tree in Magoebaskloof and climbed the Drakensberg and slept in tents with howling wind.

These were some challenges but the biggest challenge, I fell, is the stereotypical labels that not only society puts on women that women put on themselves. We tend to believe we’re only capable of certain things and it’s not in our skill set to 4x4 or climb a mountain or jump off a cliff, whether we say it out loud or just in our minds. This was indescrib able to overcome.

Are you ladies interested in taking on Expedition Uprising again? Where, ideally would you like the next expedition to take place?

Higher heights and new shores, not only international ly but in Africa. In places where we perhaps shouldn’t go because they’re deemed dangerous, but as humans we should go and explore, discover, protect and preserve these wonders. They the places that make us feel most alive and unlock our potential.

They’re a gift and place rare disease patients will never be afforded the opportunity to reach. My hope is that Expe dition Uprising can encourage a greater awareness around rare diseases so that rare disease patients can receive the life saving treatment they deserve and so their quality of life can improve and so that they can also go on adventures like these.

EXPEDITION

" So, at moments when I felt tired and sore, I thought of the privilege I have because it’s not hard. Hard is the fight that rare disease patients have every day..."

Nicole Capper, Mom, Rare Ambassador and total bad ass!

Why resilience is key in the

rare disease community

Improving our level of resilience has a big role to play in improving mental health outcomes. Authentically Resilient people ‘do emotions'. They engage with them, learn to bear them and are able to emotionally regulate.

It’s no secret that patients living with a rare disease - as well as their families, carers and loved ones - require a very special kind of resilience … resilience that goes the distance and equips them to face the relentless, some times lifelong challenges and management that come with a rare illness.

Improving our level of resilience has a big role to play in improving mental health outcomes. Australian company Resilia’s “The Case for Resilience” report shows that upon completion of a psychological re silience program, people with mental health issues reported a 75% improvement in depression, anxiety and stress scores, and a 40% improvement in wellbe ing. We cannot expect to simply know all this stuff … equipping ourselves intentionally for the long haul is crucial.

One upside of the pandemic is that it made mental health issues impossible to ignore. The last few years have started to remove the stigma surrounding mental health and started important conversations about how best to help people develop and grow their resilience levels. Certified Life Coaches Gabi Lowe and Pippa Shaper have taken this one step further by co-authoring a model called The Ten R’s of Authentic Resilience © that is by all reports making a big differ ence to people’s lives and how they cope.

Gabi and Pippa talk at length about the fact that oldschool resilience, the kind that believes you should ‘bounce back’ and simply grit it out, does little to prepare you for a lifetime of challenges and may even set you up for failure. Pushing through may work for a while, but it definitely won’t work forever - you will collapse in a heap at some stage if that’s your only strategy. Authentic Resilience, however, the kind that talks about perseverance AND rest, grit AND flexi bility, reality AND hope, beauty AND pain, vulner

ability AND courage (you get the picture) .. this kind of resilience can go the distance and help you and your loved ones build greater psychological robustness and resourcefulness even in the face of relentless circum stances outside of your control.

So who are these two women at the helm of The Re silience Factory? You don’t have to dig very deep to discover they are the ‘real deal’ having been through relentless journeys of grief and loss themselves.

Both Gabi and Pippa have experienced the complex journey of parenting a child with a rare disease; and in fact Jenna Lowe (Gabi’s daughter) was the Pulmo nary Hypertension Ambassador for Rare Diseases South Africa before she passed away 7 years ago in 2015. You may even have read her book “Get Me To 21”, a best seller released in 2018. Pippa’s daughter, Pia, is still living with the ongoing impact of Crouzon Syndrome.

They have also both experienced extensive loss during their lives (Pippa has lost two of her four children, as well as her sister, mother and husband); and they have

IMAGE CREDITS

SUPPLIED

come through it with a calling to help others find a way to thrive. Their work together has led them to want, very seriously, to debunk the myths surround ing old school resilience and rather give people access to the tools , skills, secrets and thought-processes that genuinely help in the long run

As Internationally Certified Coaches, colleagues and peers they got together seven years ago with a mission to develop a road map towards becoming more au thentically resilient. It is the road map that they wished that they’d had during their many years of challenges and trauma. These tools lead you towards becoming more authentically resilient in this life so that instead of feeling as though you are just holding on, merely surviving, you can move toward growth, purpose and perspective, towards a life of thriving, no matter what.

Although we cannot unpack the whole model, or road-map, in a short article we can get a flavour of it … and to do so we asked Gabi and Pippa a few leading questions:

You talk about “debunking” some of the myths of old-school resilience … can you share some of those with us?

Sure! One of the main myths is that Resilience is all about Bouncing Back. If you google the term “re silience” right now, what you will come up against again and again is “bouncing back”. But as anyone who has experienced severe trauma, loss or adversity knows there simply is no bouncing from that depth of difficulty. When you are faced with tragedy, with severe calamity you do not bounce; and nor would you want to, because “bouncing” back from anything truly heart breaking is a ridiculous notion. Working through pain and heartache takes intentional time and dedicated attention. It requires deep process ing, ideally with the help of a qualified professional in both a safe and held space so that the person who is working through their trauma isn’t re-traumatised and emotionally flooded. To “bounce” after trauma would mean that absolutely none of this processing has in fact taken place and therefore you can be guar anteed it will overwhelm you at some stage in the future….

AND here’s the other thing… you never ‘go back’. You can’t un-see what you’ve seen; and you certainly can’t un-experience what you’ve experienced. Every experi ence we have shapes, moulds and forms us into who we are right now; or who we may become. You can’t go back … but you can integrate, assimilate and try to make sense of your pain and suffering so as to give it meaning and grow forward.

A second big myth is that “Resilience is all about being tough and strong.” It is often assumed that re silience is all about being tough, strong, assertive and hardy, not taking no for an answer, pushing through regardless of how your feel in a way that is bordering on being forceful or persistent in the extreme … sort of like going into battle with a suit of impenetrable armour to protect you from the world. The truth is that this kind of attitude may appear to serve you for a while BUT authentic resilience is in fact borne from deep within - it is a capacity you develop, nurture and build during challenging times deep inside of you. Paradoxically, the most authentically resilient people are the ones who have the courage to be vulnerable, to ask for help and know when they need it, to fail and to forgive – all characteristics that can be traditionally thought of as ‘weaknesses’.

When things are really tough and I feel vulnerable and emotional, does that mean I’m not resilient? On the contrary, whilst ‘resilient’ people may appear not to dwell on their emotions, Authentically Resil ient people are able to fully engage with a wide range of emotions – both their own and those of others- in cluding the tougher more challenging ones. Many writers (even writers on resilience) talk about ‘positive and negative emotions’ - but to label them this way is to judge them as either ‘good’ or ‘bad’ which leads us to want to avoid or deny the ‘bad ones’. This is not true. Emotions are simply emotions – varied, complex and paradoxical, yes, and sometimes very tough, but they are neither good nor bad. When we try and avoid the emotions that we find more challenging (e.g., anger, fear, shame, vulnerability) we actually decrease our resilience. By having the courage to face them – to be able to sit with them – we learn and discover that they don’t have the power to destroy us.

When faced with difficult situations, many emotions will arise in us. Some we can easily identify; others can be harder to pinpoint. They may be familiar, or unfamiliar. Some may feel overwhelming or down right terrifying. And that is when it can be tempting to simply shut them down or hide them away for fear that they may undo us.

But shutting down our emotions is simply not sus tainable. They need processing. If we try avoiding our emotions, we can be sure they will trip us up later. Su pressing them can cause damage, or they’ll come out in uglier ways impacting our health and wellbeing as well as our ability to interact with others authentical ly.

Authentically Resilient people ‘do emotions’. They engage with them, learn to bear them and are able to emotionally regulate. What we can be sure of is that if we don’t do emotions, they are going to do us! As contradictory as it sounds, we don’t have to live at the mercy of our emotional experiences. We can actually take charge of our emotional lives by understanding them, working with them, leaning into them, and letting them help mobilise us. If we try to avoid or suppress emotions that is when they end up running us. Greater self-awareness leads to greater ability for self-regulation which give us a much more resourceful position to operate from.

"Authentically Resilient people ‘do emotions’. They engage with them, learn to bear them and are able to emotionally regulate."

Gabi Lowe and Pippa Shaper, The Resilience Factory

What are the four most important things for me to know or work on to become more Authenti cally Resilient?

There are way more than four, but it’s a good place to start:

Don’t give in to the temptation to feel like a victim – you are no victim. You may not have ability to control events, but you always have the power to choose your response. Always. Empower yourself, know all the facts, don’t make assump tions of any kind (they can be the undoing of us) and become your own advocate. Ultimately you are responsible for your own emotional and psychological well being.

Learn to become more emotionally literate and agile. Develop a broader emo tional vocabulary to actually name what you are feeling. Learn to sit with the dif ficult emotions knowing that “this too shall pass”. All things are transient, and emotions cannot kill us, but running from them and avoiding or numbing them just might. Lean into your feelings and learn how to process them and navigate them.

Reaching out for help and support may feel like a weakness but it is in fact a strength. Surrounding yourself with a good supportive community will make you more robust in all that you do or want to achieve. Make it a daily intention to connect, deeply, in a real way with those around you, with friends, with family, with colleagues. Isolation is not the salve for feeling lost or alone; connection is.

When practised intentionally and consis tently, time spent in quiet reflection every day (even if just 10 minutes) will bring you closer to yourself, quiet the overwhelm and give you access to your own deep inner calm, strength and purpose. Learn to listen to your inner voice so that you can honour yourself in all you do.

AUTHENTIC RESILIENCE is a critical life skill; the powerful ability to survive, thrive and grow in the face of stress, change and adversi ty. Everyone has the capacity to develop greater levels authentic resilience….”

Gabi Lowe and Pippa Shaper from The Resil ience Factory run Authentic Resilience work shops, retreats, shorter courses, and webinars. They also work with individuals in one-on-one coaching sessions that take place either face to face or virtually.

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MICHELLE MARAIS

Wrongful diagnosis

Having been misdiagnosed, I would have never imagined how life with Pompe would turn out.

“Despite allthese tests being donethere was still no confirmation of why my heart was enlarged."

My name is Michelle Marais and I am a Pompe warrior

Growing up I was healthy and active and had no medical issues at all. As approached adult hood walking up the stairs was a mission. I used to drag my feet a lot and struggled to get my muscles to do basic stuff, like getting up from seating down. At the time, I also had episodes of falling to the ground a lot of times to which I did not pay much attention to.

September 2016, I started getting sick. There was so much tightness on my chest, I could feel my lungs closing in on me as I battled to breathe. My instant thought was to see my GP (General Practitioner) just to figure out what is happen ing. I went to see my GP and she sent me for chest x-rays. When we got my results back, they showed that my heart was enlarged, this was a shock to me because I was healthy, and nothing has ever been wrong. She instantly referred me to a specialist for further tests.

All sorts of tests were done, from Blood work to muscles, from a heart sonar to EKG, and even an MRI. Despite all these tests being done there was still no confirmation of why my heart was enlarged. I was then referred to go see a Cardiol ogist and a Neurologist in Bloemfontein, which was 200km from where I lived.

I did not go immediately because I was working and couldn't take time off work. As the days went by, I started to experience swelling in my legs, feet, and hands. I could not sleep on either of my sides or my back, I begun sleeping upright as it was the only comfortable sleeping position for me, which meant no aches and pains. I was unable to put my head on a pillow because

the minute my body would get into a relaxed position I would struggle to breathe, and I would have severe migraines from that and an earache. I got worse and worse by day.

I am a mother to my lovely daughter Kelly-Ann, which has been such joy and a blessing. One day at her (6) graduation ceremony when she was 6 years old, I wanted to get up from my seat and cheer her on, but I could not get up at all.

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Food for thesoul in Magoebaskloof

ARTICLE Love Limpopo

If open skies, magnificent mountain scenery and slow food deliciousness are enough to make your spirit soar, explore the misty mountains of Ma goebaskloof, nestled in the embrace of the Wolkberg mountains and the Woodbush Forest.

Along Route-71 between Polokwane and Tzaneen, the Magoebaskloof Pass is a dramatic way to descend into the lowveld. It is one of the steepest passes in South Africa, dropping nearly 600 metres to Tzaneen, offering spectacu

lar views to be glimpsed through towering pines clinging to the sheer mountainside as you take the roller-coaster ride down the hairpin bends of the Magoebaskloof Pass. The precipitous pass winding through the kloof to the lowveld regu larly detours trucks with heavy loads into the un dergrowth as it did in the 1890's when the Zeed erburg Coaches travelled the frightening descent from Haenertsburg to Leydsdorp with a team of mules, horses and even zebras.

But the Magoebaskloof Pass is not just an exhil arating drive in a stunning setting. It is a journey best enjoyed when you take the time to stop along the way for a meal or a chat. In Magoebaskloof, the unique local flavours are of the Wegraak bosch Dairy organic veggies and cheeses... or the award-winning Weekend Special beer from the inspiring young brew master, Luca Tooley at Zwakala Brewery. It’s in the sweet-treats at MaGriets Fine Foods; the handmade duck paté and pesto by Bittersweet or the blueberries you can pick straight from the bushes at Blueberry Height s and pop into your G&T.

If the driving came to an end when you reached your forest-mountain hideaway, you can always stop in at Stella’s Farm Deli, a warm and welcoming place with a large variety of the best cuts of meat and necessities for your weekend braai. Apart from the tastiest local treats like jam, pesto, paté, rusks and biscuits, they also stock the best geelvet biltong. You should make some time for a coffee stop and all-day breakfast at Stella’s or pop next door for pancakes and waffles at the Pancake House. Over the weekend, stop in at the Cheese Stall and sample the most divine organic cheeses and chorizo to buy for your picnic.

Let’s face it, a road trip through Limpopo is never

complete without a padstal. There are so many reasons to take a short left off the main route and pick up the freshest local produce delivered that day and scan the shelves for the local flavour of the home-crafted, eco-friend ly, and handmade. The Magoebaskloof Farmstal l, hugging a bend on the winding Route71, is always buzzing because of its great location halfway down the pass - locals use the Farmstall as a virtual workstation or for meetings, and as a convenient space to catch up with friends. Tables are tucked into the shade of towering trees and the Farmstall is renowned for the delicious wood-fired pizzas and artisanal coffee on offer.

Across the road, the Boma at Warriors is a relaxed pub and grill restaurant with tables in a laager-type circle around a central firepit. Managed by the gregarious Francois Van Schalkwyk, the Boma is known for its scrumptious burgers, ribs and their generous platters filled with a kilogram of Mozam bique-style Peri-Peri prawns and chips. The Warriors Programme hosts young people looking for a gap-year offering personal

growth through awesome activities and ad venture. A day trip along the Magoebask loof pass also offers the opportunity to stop off at the Magoebaskloof Hotel or Magoe baskloof Mountain Lodge for a range of de licious options from the a la carte restaurant menu to pub grub, Sunday carvery or tea and scones on the patio overlooking the spectac ular views.

Of course, one of the most important elements of a destination is the connection to people. Walk down the tree-lined Main Street of Haenertsburg and you will feel like you have discovered a town from the days of old when people greeted each other on the streets, where a lazy weekend stretches endlessly ahead of you and time stands still. Wander through the gold-mining-themed Pennefather shops with antiques, clothing, sweets and treats as well as the charming Memory Hold-the-door Bookstore with a coffee shop on the stoep. Pop into Blackburn Leather for gorgeous, handcrafted hats, shoes, belts and bags or Earth by Nature retail consortium where you can browse through local products all

under one roof like Boerboel men’s clothing, veldskoen, interior design, gifts, lotions, and plants or treat yourself to a massage and facial from the River Wellness & Spa.

At the heart of this quaint hamlet of Haenertsburg are a host of great dining options. Caffe Villa Trattoria specialises in pizza ‘n pasta while the festive Iron Crown Pub has a great outdoor space to enjoy a ‘Haenertsburg er’ and cold Zwakala beer or meet up with the locals in the indoor pub. The Eatery on Rissik, is a coffee shop where locals meet for a cappuccino next to the cosy fireplace or spend a virtual-workday on the sunny, glasswalled patio. There is often a buzz when you pop in for breakfast or freshly baked breads and sweet delights to take on your adventures exploring the area. The Red Plate restaurant is the perfect place to watch village life go by from the sunny deck or book out for a cele bration. There are always locals with their dogs or horses, chilling out in the shade while their owners enjoy a Smoked Trout Wrap or Chicken Schnitzel. If you are staying in the area overnight but don’t feel like cooking, you can buy their ready-made meals and the yummiest chocolate brownies.

Up the road, Cheerio Café is to be found amongst the azaleas and cherry blossoms of Cheerio Gardens. Try them as a tranquil meal option for wood-fired pizza or a coffee and the best pecan pie this side of the equator.

Another pizza favourite is the Pot ‘n Plow Pub on the R71 where locals stop in for a beer and a catch-up.

This is just a whirlwind tour of the delights Magoebaskloof has to offer, but these moun

tains hide many more mysteries and magic to be revisited time and again. For now, the enticing glimpses down into the valley, so different at every bend, draw you onwards through Tzaneen to the wild heart of the province, the Kruger Park, along all the trails and tributaries of Route-71. Breathe in the fresh air of this mountain getaway, enjoy the views, the mountainfolk, and the organic slow food. Fall in love with Limpopo all over again!

Love Limpopo came into being because of a deep love for the people and places in this incredible province… a celebration of the deep and ancient rhythm of its collective heritage. Become part of this epic love story.

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EMAIL connect@lovelimpopo.com

072 397 9624

WEBSITE www.lovelimpopo.com

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must-haves for a successful camping trip

It’s the Festive Season, the kids are on holiday, you’re on leave, the sun is shining bright, and the drinks are cold! What better way to spend a few days of your holiday than camping? Even if you’re not an avid camper, you know the basic necessities such as a tent, sleeping bag, bug repellent and so on, but if you’re new to the world of camping here’s a helpful list of the not-so-common items you may need to ensure the best adventure ever!

01 LED LIGHT

This will come in handy on your camping trip for obvious reasons. Even if your campsite has electricity, it’s always conve nient to have a LED light.

02 MULTI-TOOL

Expect the unexpected are words to live by, especially when camping! You never know what might need fixing, adjusting, or changing and a multi-tool will solve your problems one handy tool at a time. A good multi-tool negates the need for so many camping utensils, making it a huge weight and space saver.

03 LIPICE

Though small and unassuming, a tiny tube of Chapstick packs a lot of utility into its mi nuscule proportions. An African summer

can be pretty brutal so it’s best to keep those lips moisturised. Grab a small Zam-Buk to keep in your pocket because it can also be used for skin dryness, chapped lips, cuts, insect bites, poison ivy rash, minor burns, and skin cracking in the wilderness.

04 FLIP FLOPS

Unless you’re a seasoned camper with a portable shower, you’ll be making use of the communal bathrooms and it’s always best to keep those flip flops on when shower ing. Also sliding on the slops to take a quick walk to the bathroom or to the dustbins is so convenient. Flip flops are a staple!

05 UTENSILS

Eating utensils are something you do not want to leave behind! Make sure you’ve got a sharp knife! Your multi-tool will have

a knife, but have you ever tried slicing a steak with a tiny knife? It’s not a vibe. Along with the usual eating utensils make sure you include braai tongs and a bottle opener and a cutting board.

06 EXTENSION CORD

Depending on the campsite you choose to stay at, there are often electrical supply points for a more convenient stay. If your tent is situated a bit further from the supply point, you will need an extension cord to get electricity to your site. Add in one of two extensions cords just in case.

07 FIRST AID KIT

Nothing can ruin a holiday like discomfort and pain. A fully stocked first aid kit is a must! Remember ointment for potential bug bites, after sun for the potential sunburn, and ointment for a potential real burn from the fire. Pack in a few rehydrate sachets too as the December sun can sometimes get the better of you and dehydration is not a fun business.

08 PORTABLE COFFEE MAKER

Who else can’t function without a Cuppa Joe? A moka pot is what we recommend as you can pop it directly over the campfire or braai and in no time at all you’ll have delicious fresh coffee to start the day.

09 DUSTPAN AND BRUSH

There’s nothing worse than a tent filled with sand. It’s not just about keeping your tent clean and tidy, it’s to avoid tracking sand into your sleeping bag/bed. Your new best friend on your camping trip will be your dustpan and brush.

10 DUSTBIN BAGS

No one likes a litter bug and sometimes the dustbins are quite a distance from your campsite, we suggest taking a few dustbin bags with you to gather your rubbish but remember to throw it away daily as you never know what little animals may come sniffing for some leftovers!

11 BONUS- SMORES

Is it even a camping trip if you don’t have smores?! Remember to pack those marshmallows.

The Madd Research Project

Understanding our patients andtheir diagnoses in Southern Africa

ARTICLE Michelle Bisschoff (MSc)

Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as Glutaric aciduria Type II (GAII), is a rare metabolic disorder that affects ap proximately one in 200 000 individuals. MADD/GAII is caused by one or more inherited mutations in one of eight genes that are carried and passed on from both parents. It may present shortly after birth, during childhood, or in adulthood. MADD/GAII leads to the incomplete breakdown of fats, protein, and choline which, without treatment, accumulate in the body as toxic by-products. These by-products can damage high energy-requiring organs like the brain, heart, muscle, liver, and kidneys and can lead to hos pitalisation or death if untreated.

Since the clinical presentation of MADD/GAII varies greatly between patients, a diagnosis is usually confirmed after the blood serum and urine undergo metabolic analyses. However, these types of tests depend on whether the patient is in a very specific metabolic state (i.e. a certain level of the by-products must be detected), and so for many patients, a MADD/ GAII diagnosis can only be confirmed by genetic analysis.

We’ve all heard the saying “you can’t compare apples and oranges”. The same is true for people from different populations who are affected by disorders such as MADD/GAII. To help diagnose and study this disease, researchers often compare research results from un derstudied, ethnically diverse populations (such as those in Southern Africa) with those of well-studied populations, such as those in Europe, North America, or Asia. While this approach is useful, especially when research is lacking in some populations, it is not optimal. Rare, inherited disorders can look very different clinically and genetically between different ethnicities and need to be studied in each population to provide a more accurate understand ing. The MADD Research Project aims to address this problem by investigating MADD/ GAII in Southern African patients to obtain population-specific clinical, metabolic, and genetic data. This will allow a better understanding of how the disorder affects our patients so we can both improve and speed-up diagnosis.

Since 2019, the MADD Research Project, based at the Centre for Human Metabolom ics, North-West University in Potchefstroom, has been collaborating with the Interna tional Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD) on a project led by the University College London and Cambridge University, UK. This global initia

tive includes partners from five developing countries, including Brazil, India, South Africa, Turkey, and Zambia. Together, these countries are focusing on establishing a sustainable, transcontinental genomics research and capacity building partnership related to neuromuscular disorders (like MADD/GAII). The initiative hopes to achieve a better understanding of the un derlying disease mechanisms to ultimate ly improve the quality of life of affected children and adults.

The success of this project depends greatly on the extent to which patients and their close family members can be recruited across Southern Africa. To qualify as a participant in the MADD/GAII research project, patients must have a diagnosis of MADD/ GAII, nationality of a Southern African country (all races are welcome) and have a negative/unknown HIV status. Once the patient gives informed consent and is enrolled in the study, they will undergo a thorough and free clinical assessment by one of the study’s col laborating neurologists. In addition, urine and blood samples may be collected. The resulting samples and data will be anonymised, stored in a secure database and biobank, and used to determine the clinical, metabolic, and genetic aspects of MADD/GAII in Southern Africa. When a genetic diagnosis is obtained, the result will be shared with the patient who may also consult with a genetic counsellor, at no cost to the patient.

This research project offers its participants an oppor tunity to help other individuals affected by MADD/ GAII, not only by providing valuable clinical and met abolic data, but by contributing to the development of faster genetic screening assays. Such assays result in quicker and more reliable diagnoses which help patients to receive treatment sooner. Since MADD/ GAII is a rare metabolic disorder, our goal is to offer as many patients as possible the opportunity to partic ipate and benefit from the results. If you would like to enrol in this valuable research project, please connect with us via email or telephone, as detailed below.

In South Africa, experienced clini cians and researchers from four par ticipating centres are involved. This includes:

Prof. Francois H van der Westhuizen Coordinator and NMD researcher Centre for Human Metabolo mics, North-West University: Potchefstroom

Prof. Izelle Smuts

Paediatric Neurologist D epartment of Paediatrics, Uni versity of Pretoria

Prof. Jo Wilmshurst

Paediatric Neurologist School of Child and Adolescent Health, Red Cross War Memorial Chil dren’s Hospital, University of Cape Town

Prof. Jeannine Heckmann Neurologist Division of Neurology, Groote Schuur Hospital, University of Cape Town

Dr. Franclo Henning Neurologist

Division of Neurology, Stellen bosch University

Prof. Soraya Bardien Geneticist

Division of Molecular Biology and Human Genetics, Stellen bosch University.

Genetic testingHub

An online comprehensive database of genetic testing available in South Africa?

Imagine a world where there is a ‘menu’ of all the genetic testing available in the country. Well, this will soon be a reality, thanks to a collaboration between RDSA and the laboratories offering genetic testing in South Africa (SA), in both the private and state sectors. Currently, there is no central database of genetic tests that are offered in the country, and no one knows exactly what tests are available for different rare diseases (RD) and congenital disorders (CD). This makes ordering genetic tests particularly diffi cult for the healthcare practitioners (HCPs) who are caring for the affected patients – imagine ordering off a menu with only the starters listed! How can HCPs possibly order appropriately if they don’t know what is available in the country?

RDSA’s genetic testing HUB aims to address this gap by offering a comprehensive, “one-stop-shop” for laboratory genetic and biochemical testing in SA.

WHAT IS GENETIC TESTING?

So, what is genetic testing? Genetic testing is a type of test that looks at a person’s DNA (the genetic information responsible for our development and functioning) and includes all the ingredients that make us who we are. Our DNA is packaged into structures called chromosomes. Chromosome tests look at either whole chromosomes or long lengths of DNA (parts of the chromosomes) to see if there are large genetic changes, such as an extra copy of a chromosome, that cause a genetic condition. Certain stretches of the DNA are called genes. Each gene has a specific function in the body. Gene tests study the DNA

sequences to identify variations (called mutations) that can cause a genetic condition or increase the risk of one.

The HUB will also include laboratories offering biochemical genetic testing. This type of testing looks at enzymes in the body that may either be absent or not working the way they should be. Altered enzyme activity can cause birth defects and inherited metabolic disorders known as "inborn errors of metabolism".

Of the 7,000 rare diseases that have been identified worldwide to date, up to 80% are genetic. Therefore, genetic testing is a critical step in the diagnostic odyssey for many rare disease patients. The results of a genetic test can either confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic condition.

The RDSA HUB will include links to laboratories offering testing for:

• Chromosomal disorders

• Single gene disorders

• Metabolic or biochemical disorders

• Cancer genetics

WHAT ARE THE POTENTIAL BENEFITS OF THE HUB?

Without appropriate genetic testing, RD and CD patients face a long journey to diagnosis (the average time is approximately 7 years!). This means that many do not receive the right treatment timeously which can hugely affect their quality of life or even save their life!

Specific benefits of the HUB include:

• Improved accuracy, accessibility and speed of diagnosis.

• Early intervention and potential treatment options.

• The ability to identify gaps in the testing currently being offered.

It is also hoped that the HUB will eliminate the ordering of inappropriate tests, which wastes both time and resources. It is well documented that genetic services in SA are very limited, and this understaffing extends to the laboratories that are performing the genetic tests. With the HUB, HCPs will be able to see what is available and select the most appropriate test for their patient. To further meet this need, an education initiative will be developed to improve HCPs understanding of genetic testing – so watch this space!

IN CONCLUSION

Currently, approximately 30% of children with a RD will not live to see their 5th birthday. We need to do better! The introduction of a genetic testing laboratory HUB is a step towards addressing the delay in diagnosis for most rare disease patients and thus improving patient outcomes.

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Rare News

Victory

for HJW Attorneys and medical aid members

On 26 August 2022, the High Court in Pretoria handed down judgement in an application concerning a three-year old boy, Zachary De Wet, suffering from a rare genetic condition called Mucopolysaccharidosis Type II (“MPS II”) - also known as Hunters Syndrome.

Background

During August HJW ATTORNEYS successful ly assisted Rare Diseases South Africa ("RDSA") in bringing an application to the High Court of Pretoria on an urgent basis on behalf of Zachary de Wet, a three-year old child who was diagnosed with a rare genetic condition called Hunter’s Syndrome MPS II. Whilst there is no cure for Hunter’s Syndrome, evidence exists that a certain drug called Elaprase can slow and even halt the progression of this horrific and deadly degenerative disease. It is the only regis tered treatment that exists for Hunters Syndrome. Unfortunately Zachary’s medical aid, Medihelp, had rejected payment of this treatment which is totally unaffordable to an individual with costs of close to R200 000/month.

When Zach’s family approached us, through Rare Diseases SA, we jumped at the chance to get involved and very quickly instituted urgent proceedings to try to get his treatment paid for as his doctors had advised that every day that he went without treatment would render him more and more debilitated.

ARTICLE HJW Attorneys, Megan Harrington-Johnson and Alexi Jean Rosenzweig

The Basis for Medihelp’s Decline

Medihelp’s argument and motivation for declining treatment was based on the following reasons:

1 2

that Zachary’s condition, MPS II, is not a registered Prescribed Minimum Benefit (“PMB”);

that even if MPS II were a PMB condition, that the requisite treatment is not available in the state for this indication and thus it is not a PMB entitlement;

What is a PMB Level of Care?

3

that Zachary’s benefit plan – MediVital Elect, did not cover chronic medications that do not qualify as a PMB level of care, and further

that Zachary’s benefit plan – MediVital Elect, does not cover treatment with bio logical/biosimilar medicines, which ERT treatments are.

What Is A PMB Condition?

Only once court proceedings were instituted did Medihelp concede that MPS II was indeed a PMB Condition. A PMB Condition is a specific con dition set out in the Medical Schemes Act which requires all medical aids to pay for certain health services, related to that condition, regardless of the benefit option they have selected. In terms of the MSA, all medical schemes are required to cover the costs related to the diagnosis, treatment and care of:

· any emergency medical condition; · a limited set of 271 medical conditions (defined in the Diagnosis Treatment Pairs); and · 26 chronic conditions (defined in the Chronic Disease List).

One of the underlying purposes of the PMB pro visions in the Act and the regulations is to ease the demand upon public resources, which provide hospital and medical services at little or no cost, while at the same time ensuring that members of the medical scheme suffering from PMB condi tions are able to obtain treatment at a satisfactory level – namely a “PMB Level of Care”.

It was at this point that our argument, (and Medi help’s) became tricky…. This is because not ALL treat ments for PMB conditions are required to be funded by a medical aid, but rather only the specific treat ments generally specified for them. The regulations to the MSA state that where medical care for a PMB Condition is prescribed in “general terms”, as it is for MPSII, where it is stated that the Prescribed Level of Care is “Medical Management”, that the treat ment to be covered must be the same as the treatment which is the “prevailing predominant public hospital practice” for that PMB Condition. Unfortunately, as Zachary’s disease is so rare, it was difficult to es tablish what the actual “prevailing practice” was as, whilst some patient’s with MPSII are treated in State hospitals, no formal, written protocols exist to de termine what treatment the MUST have. As a result of this, Medihelp argued that the prevailing practice for MPSII was palliative care only and that Elaprase didn’t fall into this category.

With the help of Rare Diseases SA, we were however able to establish that Enzyme Replacement Therapies

(of which Elaprase is one) are indeed provided in certain centres of excellence where rare diseases are treated throughout South Africa, including at the Charlotte Maxeke Johannesburg Academic Hospital (CMJAH) and Red Cross Children’s Hospital in Cape Town.

The Judgment

Our application was heard by Honourable Justice Millar J at the High Court of Pretoria on the 23 August 2022, whereafter he handed down judgement on 26 August 2022.

As we were able to establish in our argument that Elaprase is in fact available and used in both the public and private healthcare services for the treatment of MPS II – the Honourable Justice Millar J stated that “it seems to me to be self-evi dent that if ‘prevalence’ or ‘predominance’ are to be the criteria upon which the use of Elaprase is to be measured then it must be so measured within the context of the very low patient numbers”.

The Way Forward

It must be noted that for procedural reasons, this application was brought on a part A and part B basis - Part A: requesting Medihelp to fund the treatment of Elaprase, pending the resolution of

Part B and Part B: stating that we would await final adjudication by the Council for Medical Schemes as to whether or not this medication is required to be paid for. The CMS is the Body which usually hears and adjudicates complaints of this nature but approaching the CMS first was not an option for Zach, as the processes under the MSA, which include two possible appeal options are time consuming and protracted and did not cater for the urgent relief that Zach required.

In the interim and pending the outcome of the CMS process, which has begun, Zachary is cur rently receiving the treatment he needs which will allow him to live a longer and healthier life.

We are optimistic that the CMS will rule in Zach ary’s favour and that Zach can then continue to receive this life-sustaining treatment for the rest of what we hope will be a very long life for him!

This article is provided for informational purposes only and should not be substituted for legal advice on any specific matter. Any opinions expressed herein are subject to the law as at the time of writing and will change in accordance with any change in the law. We recommend that you contact HJW Attorneys at info@hjw.co.za directly for advice applicable to your specific matter.

this card could save your life

Patient ID Cards contain all the important infor mation pertaining to your rare disease or con genital disorder. Should you find yourself in a medical emergency, your ID Card will inform those around you about your medical condition and how they can best assist you.

Perfect to slip into your child’s school bag or to keep in your car this card could save your life.

yours today

Dad Diaries Raising Rare Warriors

Life with A Rare Disease Is Anything but Normal

ARTICLE Paul Nel

As a dad, it was my absolute honor and privilege to be able to give my daughter one of my kidneys on June 22, 2021. This was exactly three years after we first learned of her kidney failure.

Life, as we knew it, came crumbling down around us in June 2018 when our oldest daughter, Tanya, was unexpectedly diag nosed with end-stage renal failure. She was 17 years old at the time. Looking back, we realize the first signs started around her 16th birthday. The itchiness was probably the first sign, followed by ex cessive tiredness, weight loss, and constant headaches. Closer to the time of diagnosis she was pale and constantly out of breath from the anaemia associated with chronic kidney failure. We consult ed with a few general practitioners, but they diagnosed sinusitis, wheat allergies, eczema, and a few other things that were treated symptomatically. As chronic kidney failure is not something you would expect in a ‘healthy’ 17-year-old, the diagnosis was only made when she became seriously ill.

IMAGE CREDIT SUPPLIED

She was admitted to the hospital frequent ly during the next two years. She underwent various tests and investigations, including a kidney biopsy, a bone marrow biopsy, two liver biopsies, CT scans, MRI scans, and even a diagnostic splenectomy. By then, she had a whole team of doctors trying to figure out what was the cause of her numerous health issues. However, it seemed like the more tests they did, the more problems they found. Apart from having a kidney function of 5%, she was anaemic. She had a total cho lesterol count of 12, her liver enzymes were severely raised, her liver and spleen were enlarged and showed ‘spots’, and her heart beat was irregular. She was started on hae modialysis three times a week right up until the day before her transplant – three years later. It took us the better part of two years, some expensive genetic tests, and a team of around ten specialists, both local and inter national, to finally get a diagnosis – Nephro nophthisis type 3, or NPHP3. As soon as we realized we were dealing with a genetic ab normality, we screened our other two kids as well. Our son, Marco, our middle child, was fine. But our baby, Mia, who was 11 years old at the time, had some abnormal results that prompted us to do an NPHP genetic panel test on her too. Genetic tests confirmed both the girls had two pathogenic variants of the NPHP3 gene mutation and confirmed neph ronophthisis in both.

There is no cure for the condition. Kidney failure is the inevitable pro gression of the disease. In the case of type 3, they also develop liver fibrosis which means both girls will eventually require both a kidney and a liver trans plant. Thankfully, the disease does not reoccur in the transplanted organs, and NPHP patients are known to do very well post-transplant.

As a dad, it was my absolute honor and privilege to be able to give my daughter one of my kidneys on June 22, 2021. This was exactly three years after we first learned of her kidney failure. The transplant team at Wits Donald Gordon Medical Centre was phenomenal. Even though both Tanya and I contracted COVID-19 a week after the transplant, their amazing care ensured we both recovered fast and without any complica tions.

We are privileged to have both our girls looked after by an amazing ne phrologist, Prof Rajendra Bhimma. He is also one of the only specialists we came across with some experience in managing this condition in Durban. He is a kind and caring gentleman who patiently answers our many WhatsApp messages and emails and never rushes through the three-monthly consulta tions, which usually take the better part of an hour per child!

Paul and Tanya

Tanya will require a liver transplant soon, and Mia is currently in stage 3 kidney failure and starting to exhibit the same symptoms her sister had. The itchiness can be overwhelming at times, and it tends to keep them up at night. This is causing a lot of anxiety. Due to the extreme fatigue associated with nephronophthisis, Mia had to give up the rhythmic gymnastics she loved so much. She is also starting to lose weight and has constant headaches, which we can only treat symptomatically.

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Unchartered

In Waters

ARTICLE Natasha Nass

When I was told by her Grade R teacher that my daughter must go to swimming lessons before going to Grade 1 I scoffed. Come on! She knows how to swim, I have a pool. Boy, was I proven wrong.

I’ll never forget the first day she sat on the step next to the other little swimmers. Her silicone cap slightly askew – thanks to a mom who has not mastered the tech nique yet - and her nervous smile, just as skew, bravely pasted on her face. Day one of swimming lessons was afoot and she was in deep water, metophorically speaking. As a courtesy to her Grade R teacher, we were only doing 6 lessons. Today we sit at lesson 19. Why? Because her mother has sheepishly

“Swimming is a skill that could ultimately save your life."

realised that learning to swim is more than just ticking a pre-Grade 1 box.

“Swimming is a skill that could ulti mately save your life. Drowning is the third most common cause of acciden tal death in children, and therefore it is absolutely vital that every child has the opportunity to learn to swim and gain core knowledge regarding water safety,” says Danielle, owner of Aqua Marine Aquatics Academy. “Any time of year is a dangerous season for children and adults alike to be around water, though this is even more prevalent in the summer seasons as swimming becomes more common.”

According to Danielle, there are many different environments in which one can be exposed to water, the most common being a swimming pool. Other threatening environments within reach, if not properly super vised, are the bath tub, toilet, dam or river, bucket, washing machine, fish pond and the Ocean, to name a few.

WAYS TO ENSURE THAT YOU ARE SAFE IN AND AROUND WATER S

SPOT THE DANGERS

Check for hazards, ie murky water, currents or temperatures

ADVICE

A F E

Look for signs, lifeguards, teachers and listen to their instructions

FRIENDS

Never swim alone

EMERGENCY

Learn what to do in an emergency

IMAGES CREDIT UNSPLASH

As the summer season is upon us and children and adults are heading into bodies of water, extra precaution needs to be taken. The statis tics of children drowning, followed by caregiv ers drowning by “jumping in” to save the child is frightening. If you do not know how to swim yourself, you cannot jump in to try and rescue someone.

One of the best things that you can do for yourself and your loved ones’, is to have them attend swimming lessons so that they can learn to swim as soon as possible and be safe in any body of water. Swimming is not a “quick fix”, it is a life skill that you need to learn and everyone should have the opportunity to develop a life long love for Aquatics across all the varying dis ciplines. Swimming lessons formally start from roughly 6months of age and go right the way through to competitive swimming, as well as Aqua Aerobics exercises classes. Catering from babies through to Adults, as well as especially, not excluding our Specials Needs swimmers. In clusivity of everyone is key to a love of Aquatics!

OTHER IMPORTANT FACTORS TO TAKE IN TO ACCOUNT WHEN SWIMMING

Cover a swimming pool when not in use

Wear Sunblock & Suitable swimming attire if you are outside in the water

Don’t eat just before you go swimming

Don’t jump in to a body of water where you cannot see the bottom or do not know the depth

Never drink alcohol and then go swimming

into the

wild

It’s the digital age, we’re flooded with content left, right and centre. People have literally made millions off promoting different beauty trends across their platforms like Instagram and TikTok. It’s overwhelming to be faced with so many options of masks, serums, and powders. As this is our last issue of 2022 we’re explor ing the wild trends that have graced our social media for the past year.

LED MASK

The LED Mask has been termed as the most futuristic skincare treatment to date. LED face masks work efficient ly to treat a number of skincare issues. LED masks offer multiple favourable effects on the skin, including helping to rejuvenate the skin and stimulate collagen production.

They can prove effective in controlling acne breakouts and reducing sun damage.

Some of the benefits of the LED mask include rejuvenating and healing the skin, treating skin allergies and condition, anti-aging prop erties as well as treating acne.

You can purchase your very own LED Mask here and have your treatments from the comfort of your own home.

COLLAGEN

Firstly, what is collagen? Collagen is the most abundant protein in your body. It’s the main component of connective tissues that make up several body parts, including tendons, lig aments, skin, and muscles. It plays a role in strengthening skin, as well as in elasticity and hydration.

As you age, your body produces less collagen, leading to dry skin and the formation of wrinkles. Additionally, collagen supplements may promote the production of other proteins that help structure your skin, including elastin and fibrillin.

In addition to the skincare benefits, collagen is amazing for your joints, gut health and so much more!

There are so many options for collagen supple ments out there today. Here are a few we can recommend:

The Harvest Table

Motherkind

O Nutricia

SNAIL MUCIN

Snail mucin, you potentially had to read this twice to make sure your eyes weren’t deceiving you. Snail mucin, aka snail secretion filtrate, is a substance that's excreted from snails and used to create the skincare serums, moisturizers, and creams you've been seeing on social media.

Although research on the ingredient is limited, in theory it should do wonders for your skin as it contains hyaluronic acid, allantoin, anti oxidants, zinc, manganese, glycosaminogly cans, growth factors—all good stuff for hy drating, plumping, and soothing the skin, and building collagen.

If you'd prefer a vegan-friendly version of snail mucin, look for ingredients like glycerin, gly coproteins, hydrolyzed glycos aminoglycans, hyaluronic acid, or sodium hyaluronate listed on the label for a similar effect.

CRYOTHERAPY

Ok, we’ve all tried the cold teaspoons under our eyes to reduce our dark circles, a cryo therapy facial is similar, but way more intense. A cryothera py facial involves having liquid nitrogen pumped all over your face for 2 to 3 minutes.

The goal is to give the skin a glowy, youthful, and even appearance. As intense as this sounds, it is a safe facial although we can’t vouch for how relaxing it is.

During a cryo facial, the intense cold causes your blood vessels to contract and your pores to tighten, which is a similar but more intense version of what happens when you rub ice on your face.

Once your skin returns to its normal temperature, the blood vessels dilate quickly. This causes an increase in the flow of blood and oxygen to the face, which can make skin glowy and more vibrant, and may also cause your lips to look more plump.

So there you have it, the wild trends of 2022!

Think we missed any? Let us know on our Facebook page

IMAGE CREDITS O NUTRICIA

SHUTTERSTOCK

Why are organ donors deemed foreign in our

black community

Being married to an extremely tradi tional man and coming from a very re ligious family had me looking at things from a different perspective.

The concept of organ donation is foreign to our culture; you don't mention it at all, just like blood donation seeing as both are closely tied to how our ancestors will perceive you in the after life.

Being married to an extremely traditional man and coming from a very religious family with my dad being a pastor had me looking at things from a different perspective. Growing up, at home, we have never, not even once burned incense. This was deemed as inviting ancestors and communi cating with them in a household that believes in God. According to my parent’s beliefs, ancestors are dead people- you leave it at that.

One day my little brother was run over by a car. This was, essentially, a hit-and-run. He lost a lot of blood, and he needed a blood transfusion. I have never seen my father so uneasy with the idea

of my brother receiving blood from someone else to save his life. In my father’s words “someone else’s blood is their identity so my son will have someone else’s identity. It is likely that if that person is possessed with spirits, then my son will have those malicious spirits as he will be carrying blood that is not his.”

So, as you might imagine, the blood transfu sion was followed with a lot of prayers from church members to cast out any bad spirits that potentially came with the donated blood. My brother’s doctor attempted to explain the blood transfusion as effectively as he could, but as my father has his firm beliefs, it fell flat. Well, that's also because my dad knows ev erything! A man of God whose heart is after God! So, one can imagine how a conversation around organ donation could send him into cardiac arrest.

This left me questioning a lot of things and re alising that our community lacks education in certain areas. In addition, I realised how diffi cult it would be to teach these kinds of things as culture is so significant for us. I then came to the realisation that chances are good that members of our community will never un

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PEXELS

derstand blood and organ donation until they find themselves in the situation where it could save a loved one’s life.

Now, as a married woman, I appreciate that I can be vocal about my opinions and decisions. I am labelled and unruly and weird, but I am proud to be a firm believer in organ donation, blood donation, crema tion, and all other things that I have learned to un derstand.

Marrying a man from a traditional family where they burn incense and believe in ancestors, got me thinking again (remember we couldn’t burn incense as it was perceived as inviting and communicating with ancestors). It inspired me to learn and under stand different cultures and to ask questions, like why we use incense. What is its significance? Why do we need to burn it?

Growing up in Kwa-Zulu Natal, it’s normal for everyone to communicate with ancestors but for us Gauteng kids we have different ideas.

That brings me to the fateful day that I my husband what my last wishes will be when the time comes which includes him mourning me the way he sees fit, and not according to society or family standards. During this conversation, we began the discussion around organ donation which I have opted for. He is in total disbelief that I’ve even considered it. It’s completely foreign to him. There is that word again, foreign.

According to cultural norms, our ancestors will never receive our spirits well if parts of our bodies are missing. In the spiritual realm, you will never have a voice and therefore you will accomplish nothing in your afterlife. He gave me a lot of reasons why I cannot donate my organs, particularly now that I am married, tradition does not allow me.

So, again my brain went into overdrive thinking about this. You donate to save a life. It's not like you donate because you’re expecting anything in return. This is not the case in God's world or the spiritu al world. I question whether dad or my husband would decline lifesaving surgery for a kidney trans plant because for them that will deem them ineligi ble upon death to be received by our ancestors.

My neighbour sadly passed away over Easter this year, which then sparked a lot of questions after I had educated my husband about organ donation and its importance. My neighbour has a will in place which stated clearly that she wished to donate her body to science for research. All her wishes were granted; however, her body was returned to her family, the reason being that she was overweight, and her body does not qualify for research. I’ll be honest, I didn’t know that there was such a strict criteria in place for organ donation, especially for research.

Despite the potentially complicated process of organ donation or donating your body to research, I’m still an advocate! But it leaves me wondering how we can alter the perception of organ donation. What can we do to change it? How do we alter it both religiously and spiritually? Are our families ready for these con versations?

At the end of the day, what sets my mind at ease over my choice to be an organ donor is the fact that I’m saving lives and who wouldn’t want to give the gift of life to someone?

taking it offline

Must-Visit Profiles

Let’s take it offline with podcasts! Who else loves popping on a podcast in the car? For those of you who don’t know, a podcast is a collection or series of digital audio files that are made available for downloading or listening via the Internet. The best part about downloading podcasts is that you can listen to it on the plane where you don’t have signal or without depleting your data.

What’s also convenient about podcasts is that you don’t have to watch the screen, you can just listen while you’re busy with other tasks. With December holidays quickly approaching, you might be planning a road trip and if so, we have the best adventure podcasts to get you into holiday mode and help pass the time behind the wheel.

AMATEUR TRAVELLER

The Amateur Traveller podcast and blog are the creation of Chris Christensen who has been a travel blogger for 17 years! Chris chronicles his adventures from Israel to India, touching on people, culture, and food. Chris also has 10 episodes about his travels in South Africa. Chris has been dubbed “the best in dependent travel journalist” so his podcast will not disappoint.

www.amateurtraveler.com amateurtraveler chris2x

THE WORLD NOMADS

Explore your boundaries and discover your next adventure with World Nomads, the global travel brand and insurance provider branched into podcasts to share their travels with the world. Each episode will provide insights into destinations from trav ellers and experts. World Nomads share the latest in travel news, answer your travel questions and fill you in on what they are up to in the 5-star rated podcast.

EXTRA PACK OF PEANUTS

Yes, this podcast is as fun as its name. Every week the hosts, Trav and Heather fill your heart with wanderlust and your head with knowledge. Sometimes they’ll interview amazing travellers, and sometimes they’ll give you practical advice, like 21 ways to survive a long-haul flight. Sometimes they’ll drop some lists on you like their top 25 breweries around the world. They always have fun, always get (probably too) excited, and will fill your road trips with many laughs.

www.extrapackofpeanuts.com

ExtraPackOfPeanuts extrapackofpeanuts

ARMCHAIR EXPLORER

The Armchair Explorer podcast is adventure storytelling filled with excitement thanks to the music and cinematic effects. Each episode one of the world's greatest adventurers tell their best story from the road. No long-winded interviews, just straight to the heart of the action.

www.armchair-explorer.com

THE TRAVEL DIARIES

This travel podcast is slightly different as host, Holly interviews a different high-profile traveller each week about the seven travel chapters of their life, uncovering the seminal travel expe riences that have shaped who they are today. What makes this travel podcast interesting and worth a listen is the different per spectives shared by each traveller.

JUMP ADVENTURES

Host, Jackie Nourse (aka Traveling Jackie), a long-term solo traveller, podcaster, and blogger, founded JUMP Adventures to meet her listeners and readers OFF-line, IN-community, to travel through the most epic corners of the planet, together. JUMP Podcast is your invitation to adventure. Through a mix of guest stories, solo episodes, and often raw and personal accounts with host Traveling Jackie, your road trip will be set for an entertaining success.www.thetraveldiariespodcast.com

www.worldnomads.com worldnomads worldnomads TheTravelDiariespodcast hollyrubenstein

www.jumpadventures.com jump.adventures

IMAGE CREDIT

Scary facts

about organand tissue donation

ARTICLE Fawn Kruger and Stella de Kock

Many horror films have scenes where the person wakes up in a bath with ice and one of his/her kidneys is removed. The reality is that organ and tissue donation is highly reg ulated in South Africa, so the chances of you ending up like the person in the horror film is slim to none. But myths around organ donation persist. We would like to address these myths and misconceptions people have about organ and tissue donation.

As Halloween is celebrated at the end of October and keeping with the theme of scary things, we are addressing scary myths and mis conceptions people have about organ donation.

As it makes for a great story line and great TV, numerous shows have portrayed organ donation as a macabre process and that people are killed for their organs. This is the first myth we would like to address:

MYTH 01

WILL I REALLY BE DEAD WHEN THEY RECOVER MY ORGANS?

Important to note that there is only one definition of death, ac companied by two ways of determining death, cardiac death and brain death. If they approach your family for organ donation, you have died, no one has ever recovered when they were declared brain dead by medical doctors.

The process of recovering organs and tissue is like any operation. The recovery is done with the utmost respect for the donor.

MYTH 02

WILL THE MEDICAL STAFF STILL TRY TO SAVE MY LIFE IF THEY KNOW I’M AN ORGAN DONOR?

Healthcare professionals will try and save your life first, only after all attempts have failed and two independent doctors declare brain stem death, will the option of organ donation be explored.

MYTH 03 IS THERE FINANCIAL COMPENSATION FOR BEING A DONOR?

Being an organ/tissue donor is a selfless act which saves and improves the lives of countless grateful recipients. No financial compensation is received, and trading or selling organs and tissue is illegal. There is also no cost involved in becoming a donor, and also no further medical expenses are incurred by the family once brain stem death is diagnosed and the family has given consent for donation.

MYTH 04

WHO CAN BE AN ORGAN/TISSUE DONOR? IS THERE AN AGE LIMIT?

Any person can be a possible organ and tissue donor. All tests to see if you are eligible to be a donor are done at the time of your death, once your family has given consent for your organs and tissue to be donated. There is no age limit, because there is no age limit for people who need organs!

Co-morbidities such as obesity, diabetes, and hypertension do not disqualify potential organ donors. Each organ is individually assessed for suitability for donation.

So, we’ve addressed some myths about organ donation, but who benefits and how does it change a life?

Fawn was born with a genetic rare disease Cystic Fibrosis, she spent most of her childhood receiving treatment for the disease. As her lung function deteriorated, Fawn was waitlisted for a double lung transplant. She describes waiting for the transplant as follows:

“I don’t know how much time I had left but I knew if I didn’t get lungs soon I would die. My donor didn’t give me a second chance, they gave me a first chance at life and I am forever grateful.” - Fawn Kruger, Double Lung Transplant Recipient.

“I don’t know how much time I had left but I knew if I didn’t get lungs soon I would die. Mydonor didn’t give me a second chance, they gave me a first chance at life and I am forever grateful.”

Fawn Kruger, Double Lung Transplant Recipient.

For patients awaiting a kidney transplant, the list is very long and so is the waiting period, for the O blood group patients can wait up to 15 years for a kidney from a deceased donor. The treat ment for End stage Renal Failure is dialysis, where the machines filter the blood and remove toxins and fluid. This process takes four hours and a patient will typically need treatment 3 times a week. Without dialysis or a kidney transplant, these patients will die. Most people know about living donation, but not a lot of people qualify to be living donors, you need to be in excel lent health to be a living donor and a thorough medical evalu ation takes place to ensure that the donor can survive with one kidney.

“Dialysis keeps me alive and I’m grateful for the tech nology, but you don’t get to take a break and it gets to me especially when I need to do dialysis on a public holiday.”

- Stella de Kock, who has been awaiting a kidney transplant for 11 years

People waiting for a kidney transplant make up more than 80 percent of people on the organ waiting list and people waiting for a liver transplant make up approximately 12 percent.*

When someone goes through end stage organ failure, there is not much time to LIVE. They are bound to treatments, strict medication regimes, dietary restrictions, invasive tests and constant checkups and hospital admissions. Their only dream is to receive a transplant and they have little mental or physical energy to do much else. After such a traumatic and life changing experience, many transplant patients go on to give back to society as they are filled with gratitude. Some day, it could be your own family or loved one who needs an organ and can benefit from another’s generosity.

You are 6 times more likely to need an organ than to be able to donate one. With this in mind, it’s important to ask yourself - if you or your loved ones ever needed an organ, would you accept one? If the answer is yes then it’s only fair that you repay the favour and tell your family that you too would like to donate your organs one day.

*Remember, in South Africa your next of kin have the final say, so it’s important that they know your wishes to become an organ donor so that they can honour these wishes at the time of your death.

WHAT CAN WE DO TO HELP END THE WAITING LIST?

The most important part of organ and tissue donation, is conver sation. The only way we can end the waiting list is for people to make it known that they intend to donate. Have the conversation with your family, your friends and even with your family doctor. The more people know, the easier it will be when the time comes.

Donation across various cultures is seen as a charitable gift of life and as a means of saving a life.

Profile

For more information about organ and tissue donation, please visit TELL’s social media pages @tellorgza

082 785 2530

WEBSITE www.tell.org.za

EMAIL info@tell.org.za

IMAGE CREDIT SUPPLIED - STELLA DE KOCK: BEFORE AND AFTER KIDNEY FAILURE