For this episode of Karger’s The Waiting Room Podcast, we spoke with Nomsa Mtshali, Patient Community and Rare Assist Manager at Rare Diseases South Africa. It is a non-profit organization which aims to assist rare disease patients in receiving access to life-saving treatment and supportive care for improved quality of life.

The Rare Bear Project is a community upliftment program under Rare Diseases South Africa.

Note: The statements and opinions contained in this podcast are solely those of the speaker.

Podcast Interview

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Transcript

Hello and welcome to Karger’s The Waiting Room Podcast. My name is Susanne Meister, and I am your host today. I speak with Nomsa Mtshali who is Patient Community and Rare Assist Manager at Rare Diseases South Africa. Welcome, Nomsa!

Hi, Susanne. Thank you very much for the warm welcome. My name is Nomsa from Rare Diseases South Africa.

Hello. Nomsa, before we start talking about your role at Rare Diseases South Africa and the Rare Bear Project, I have a personal question for you: On the website of Rare Diseases South Africa, you are introduced as “Nomsa ‘Three Sugars’ Mtshali”. What does this tell us about you?

It tells you that I’m the most sweetest person ever. So, when I started at Rare Diseases, I was the only person that took three sugars. Everybody was on one sugar in their coffee. And then I came with three sugars and everybody said, because I have this massive, big personality, it was a result of the sugar intake that I was on. And they just decided to just say, because you are the most sweetest person ever, it’s because of the sugar. If you were to drink less sugar, you would not be the sweetest person ever. So that’s why, that’s where “Nomsa Three Sugars” came from.

Wonderful! I completely agree, but I’m not sure what a nutritionist would say to this theory. But we’ll leave it at this. Nomsa, I would like to talk to you about Rare Diseases South Africa. It was founded in 2013. Can you tell us a little bit about the organization’s mission and vision?

Okay, Rare Diseases South Africa was founded in 2013 by our CEO, particularly because she had a little boy who was diagnosed with a rare disease called Pompe. And there was just no treatment in South Africa. And she then saw a need that there might be a need for support in South Africa for patients with rare diseases. Our vision as an organization is for those that are impacted by rare diseases and congenital disorders to access lifesaving treatment and supportive care for improved quality of life.

So, our whole mission is to ensure that patients with rare diseases have the quality of life that they deserve. We’re not saying that they should be cured, because we know that with rare diseases, cure is something that does not exist at the moment. However, we just want to ensure that they have a certain quality of life. That they go through their rare diseases, but with a certain quality of life. And we do this through advocacy and empowerment.

So, it was founded out of a personal reason by your CEO, but many people now profit or benefit from the idea and from the organization.

Yes. As a nonprofit organization, we literally are the gap. We are the bridge, sorry, we are the bridge between patients and access to lifesaving treatment. And we also, as an organization, we give support to patients. So, we are the bridge also between doctors and patients, patients and doctors, patients to patients. We offer peer-to-peer support groups as well. This ensures that our patients also understand the need of that, the fact that they’re not alone on a journey, because their rare disease journey is a very tough one.

I like the picture of a bridge. So, what have been the biggest achievements during the last ten years?

For the past ten years, we’ve managed to get quite a few drugs approved to come, to bring them into South Africa. For the past ten years we’ve also evolved. We have about more than 7,000 patients registered with us. We have about 150 WhatsApp support groups where patients engage daily to themselves. And we have managed to onboard about 2,000 plus health care practitioners with our organization, which also minimizes having to struggle with diagnosis. We have also managed to also get genetic counseling on board. So, if a patient is in desperate need of genetic tests, this can be provided from our organization.

And considering that we are a charity organization, so funding is extremely, very hard, and we have managed to get these things done for our community. And also, the biggest thing, which is our biggest, biggest thing, is advocacy. Ensure that patients get into the right drugs. So, we have managed to get patients, the majority of patients into the correct drugs, particularly the ones that are in need of enzyme therapy replacements, because it’s very, very expensive. So, we have managed to also access that for them. So, it’s been a big achievement.

So, there’s a lot to celebrate this year.

A lot of celebrations!

Very good. But before you said, before we come to the question of celebration, what are your goals for the next ten years? It sounds as if you had already achieved such a lot, but I’m sure there’s more to come or more to do.

There is honestly more, more we are planning on doing as an organization. And to bear in mind, like I said to you, again, our biggest thing is advocacy to our patients. So, for the next coming years is policy development, and also, our plan for the next coming ten years is collaboration with the state. Because the majority of the state’s patients that have rare diseases, they fall on the side, because they cannot afford this medication, and because the state is not really wanting to pay, because it’s expensive. So, we’re really looking into investing so much time into getting relationships with the state, so that we ensure the quality of life for these patients that are “on state”.

And also, the focus of the next coming ten years is to also ensure that we have proper research. Research resources that will also contribute into getting the patients that are not diagnosed into the correct diagnosis, and the patients that have been misdiagnosed – because we have a lot of patients that were misdiagnosed a lot –, and we’re trying so hard to also get them into the correct diagnosis.

And another big thing as well is to raise as much education and awareness into a health care professional. And also, the cultural differences in South Africa also impact how our patients get diagnosis. So, we’re trying and maneuver into that, getting the cultural differences. So, getting into the markets of the rural people, in the rural, educating them, and being able to get their traditional healers, because we have quite a few traditional healers.

The first instinct, I think in Africa all around, the first instinct, if a child or an adult is sick, their first instinct is to go and see a traditional healer. So, we try to work those relationships in showing that we are not taking away from what they believe in traditionally, we’re just trying to have elevated the misdiagnosis, and also get these patients into treatment. So those are the biggest, biggest, biggest, biggest, biggest plans for the next coming ten years. And obviously access to treatment. It’s always been our main goal.

Of course, and access to treatment depends on money. But first of all, you have the right diagnosis. I like what you say. You are not taking or trying to drive away people from traditional healers. You are adding something. So, your organization is like added value. So, money, access to treatment, research and education I heard. These would be for me now the three key points I take away. And now we come to celebration. What have you planned to celebrate Rare Diseases South Africa’s 10th anniversary this year? Anything special?

Because we have Mandela Day coming through and tying Mandela Day with our ten year anniversary this year, what we are planning to do, as a whole team, because we are ten in the team. It’s ten of us in the team, and in celebration, we are not really going to have a big celebration, because in aid of celebrating is in aid of giving to the needy. So, what we have planned to do is that for the next coming ten days of July, that will be the first until the 10th of July, we are going, each one of us is going to do something to give back to the community on that day.

And that is how we are going to check, like, okay, for instance, we’ll say on our social media, we’ll say today is Nomsa Mtshali’s day. She’s going to be doing this, this, this, this, this, this is for ten hours for this, but this, this, this, this, this, this, this, this. So, my biggest plan this year is this school of this lady that does after camp for orphans. So, my plan this year is to prepare food for them. So, in the morning I’m going to prepare breakfast, and then I’m going to go there. Then they’re going to come back from school and then they’re going to have the soup because it’s very cold. They’re going to have the soup. So, I’m going to spend ten hours there. That’s the whole plan for me.

So, everybody has a different thing that they’re doing for these next coming ten days in celebration of Rare Diseases 10 years and also in celebration of Mandela Day. Just giving back.

Well, wonderful. I wanted to ask you what your plan is, and I’m happy that you shared with us. I feared that you’d say no, it’s a secret, I can’t tell, I can’t speak about it now, but that’s really great. And I’m sure there will be some sweets for the kids on this day.

Yes, I’m planning on doing mini, little mini care packs for them. Like, I’m going to buy, like, your socks, your beanies, and I want to have something like, I call it “the brave box”, right? So, in my brave box I’m going to have a list of ten things. Something to keep you warm, which will be a scarf. Something to eat when you’re feeling cold, which would be coffee or tea. Something to make you smile, I’ll share a little bit of a joke. Something to eat when you’re hungry, maybe a packet of chips. Something to read when you’re feeling down, a code or something. Something to lift up your day. Something to see you through. Something for my tummy. Something for my body. Some clothing for my body, i.e. polar fleeces. So, I’m going to have a big brave box. So, I’ll cover the big brave boxes because I feel often the orphans are very brave having to maneuver life on their own. It’s very difficult. So yeah.

Wow, that sounds really lovely. And it builds a bridge to my next question because I learned that as part of its second birthday, Rare Diseases South Africa launched the Rare Bear Project. And I think this is for the brave children as well. So, could you tell us more about this project or shall I rather say the two projects that are Rare Bear?

Okay. So, Rare Bear was started obviously two years later. And the whole idea with starting Rare Bear was because we have these mini teddies. They’re very soft teddies, they’re extremely rare. So, we had seven animals, which you’ll find most of them in Africa. And the whole idea of calling it the Rare Bear, it’s because they don’t look alike. They don’t look the same. You would have five zebras that look different. And also, because they serve as a companion to our patients, making it easy for them, for our community to spot themselves.

So, if you, Susanne, owned a Rare Bear and I owned a Rare Bear, we go through hospital days together, it’ll make it easier for me to spot you because you’d be holding yours. But okay, I’m not alone in this journey. Rare diseases, as much as it’s rare, it’s not even that bigger. Do you get me? We do have a community. And so, it was started to serve as a companion for patients waiting for their hospital days, their doctor check-ups. Just to have somebody there to accompany them. And it was these mini soft toys that are just giving them so much love, and because they’re called Rare Bears. So, it was always a thing that, okay, no, I’m not alone, I have a Rare Bear. And also, it’s for our community to spot each other. We need them to have companions for tough hospital days. So that was the whole idea behind it. And it’s just evolved.

And this whole project was started by a group of women who live, who come all the way all around South Africa. To be honest with you, Mozambique, Zimbabwe, Malawi, and this is their source of income, this. So, Rare Bear is a project for these women, and it’s their sole source of income. And they never, there was never a point where they were taught how to crochet these, because these toys are crocheted. I said there is not a point they were taught how to crochet, so it was just, we give them pictures. I’m like, can you please make this? And they just make it like that. And it’s just an amazing thing for them. And they’ve evolved.

We have about, right now we have about 52 women that are solely dependent on this project. And because of the need – people just love these Rare Bears – because of the need we then opened it up, so that people can also buy them. We opened up to the market, people can buy them, and own them if they want to. Not necessarily for our patients, but it’s just a special meaning that it’s a Rare Bear. So, people are welcome to donate, to donate them or buy them. So yeah, it’s a big project.

Wow, so it’s a social project as well. It’s not just giving. No, it is giving. It’s giving out cuddly toys, but it’s giving out work as well. So, I like the idea. It’s a perfect community, hand in hand. Well, I’m now at a loss for words because I really like the idea. So, it’s like a brave box for the sick children with rare diseases. And for the women it’s a source of income as well. That’s really great. Now, you see, at the end of this conversation, I want to tell you how impressed I am, about all that Rare Diseases South Africa has done and still does to live up to their claim “For a Better Tomorrow.”

And I want to share with our audience a favorite quote of yours by the Brazilian author Paulo Coelho: “We will only understand the miracles of life fully when we allow the unexpected to happen. Don’t be scared to take risks.” I think this is an appropriate way to end this podcast. Thank you very much, Nomsa.

Thank you very much, Susanne, really a pleasure being here. Thank you for the warm welcome and for this opportunity to just speak about our organization and the impact that we have.