Episode 1: Diagnosis to Discovery Part 1: Refusing to Limit Possibility

Acknowledgement of Country

Today, we say thank you to the First Peoples of this land. Our main home is the Health Translation Hub at UNSW in Randwick. 

This is Bedegal and Bidjigal country. They have cared for this land for a very long time.

Many of us are joining from other places today. We say thank you to all the other nations, clans, and communities across New South Wales and Australia. We honor the country that each of you are on right now.

Aboriginal and Torres Strait Islander peoples have looked after these lands for a very long time. 

When other peoples came to Australia, it caused great harm. That harm is still felt today.

Through all of this, Aboriginal and Torres Strait Islander peoples have stayed strong. They keep a deep and special connection to their country, their culture, and their traditions.

We will walk gently on this land. We do this with respect, with care, and with a thankful heart. We remember that sovereignty was never ceded, which means never given up. 

Aboriginal and Torres Strait Islander peoples never gave their land away. They never signed it away or agreed to hand it over. So this land always was and always will be First Nations land.

This Acknowledgement of Country is ready by Skie Sarfaraz.

Transcript

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Narrator 1:51

Welcome to Growing Stronger Together. People with intellectual disability, families, and support people navigating the world. This podcast is brought to you by GeneEQUAL and host Emma Palmer. Emma is a kids' doctor and clinical geneticist who is part of the inclusive GeneEQUAL team. In this episode, "Refusing to Limit Possibility", Emma chats with Stacey Touma, CEO of Belongside Families and mother to Alex, who has Williams syndrome, a genetic cause of intellectual disability. We explore Stacey's personal journey. From receiving an unexpected email about a chromosome deletion to Googling her son's diagnosis to fundamentally transforming how she views disability and possibility, Stacey shares candidly about the limiting, deficit-focused information she received early on, and how she chose to throw away the outdated piece of paper that told her what her son couldn't do. Instead, she forged a path focused on strengths, potential, and refusing to put limits on what's possible. This is a story about moving from fixing to flourishing and the power of positive representation in changing a family's entire trajectory.

Emma Palmer 3:12

Thank you very much for coming in today. Really appreciate it. And Stacey, the reason that we asked you to come is we knew you have two amazing backgrounds. So one is that you will talk about your role in Belongside Families and what that does, but also very kindly you've shared with us some of your personal journey. And when I've spoken to you in the past, I've just been blown away by your strengths-based approach to genetics and just hearing about communication in your family and with your school. I know it's not all been easy by any means, but some of the things that you've shared in the past have just opened my eyes into what's possible. So we're really grateful that you came in today. And maybe I'll just gently start with that. So maybe if you wanted to just give an explanation of why you see yourself here, like what is Belongside Families and what is that involved, but also if you feel comfortable just telling us a little bit about your lived experience and why that brings you here too.

Stacey Touma 4:10

I guess just starting off a little bit first about who brings me to this space. So I am a parent of a child with a genetic condition. My son Alex, who is 13, has Williams syndrome and he has an intellectual disability. So we found out when I was around 20 weeks pregnant that he had a heart defect. So our journey in the health care system started quite early. We were under the care of a special team at the hospital, seeing the cardiologist every week. When he was born, quite soon after it was identified that he wasn't meeting milestones, and we knew that something, that there was a difference there. We did go through genetic testing and we saw geneticists, we saw a whole range of specialists quite often. But it wasn't until Alex was, I think, three and a half that we actually identified that he had Williams syndrome. And it was just literally almost at random that it came up. My paediatrician, who we'd been seeing from when he was born, sent me an email telling me that there was like a deletion of chromosome 7. So I had to Google what does that actually mean? And then discovered that Alex had Williams syndrome. And while it is considered a rare disease, I was actually quite surprised that I knew a few families that had a child with Williams syndrome, including someone that lived on my street.

Emma Palmer 5:38

To me, it's so striking. This is my image of you, like you're forging ahead in this world of empowering and connecting families and going against a system that often isn't made for people living with rare conditions. And then to hear that you even had to Google what the diagnosis meant. Like right at the start, you didn't by any chance have what we would say was comprehensive genetic counseling. Like you, from the very first moment, you were working that out yourself.

Stacey Touma 6:11

Absolutely. When I speak to families, especially when I'm in spaces where I'm sharing my lived experience, like they might see me as the CEO of Belongside Families and all of the work that we're doing to support families, but I didn't start this way. I started as a parent who had no previous experience interacting with people who have a genetic condition or any type of disability. And I had never come across any positive representation. I think I had a quite limiting view of what was actually possible. And so I think with my starting point, I Googled what is chromosomal deletion. You know, I started to read up on what Williams syndrome is. And then it wasn't too long after that we did meet with the geneticist. And I don't really remember much about that appointment, to be honest. I was really overwhelmed. All I do remember, and this has always stuck with me, is that I was handed a piece of paper essentially telling me what was not possible. People with Williams syndrome likely are to not leave independently. They're likely to go to special schools. They're likely to do it, it was very limiting, but also very outdated. And I think that was my starting point. And that was definitely what guided my journey in those very early years. I was that parent that prioritised therapy. I was rushing about everywhere thinking I need to fix my child. We need to do as much as possible because we need to fix him. Like he needs help. And that really drove those early years. And I didn't know any other parent who had a child with a genetic condition. I didn't know any disabled people. We were just living in a very medical model, deficit-focused life at that point in time.

Emma Palmer 8:04

That word really resonates with me. And I think it was one of the things you said, limiting. From getting an email out of the blue to looking up information about William syndrome online, did you see positive images? Did you see what people were doing, what they were achieving? It was all, it was all what they couldn't do. Oh gosh.

Stacey Touma 8:23

I don't even think, even looking around now, there's not a lot of positive representation. When you're Googling, I think if you're fortunate enough, like I am now, to be in a position where I interact organically with disabled people and not in that inspirational way. It's shown me what's possible. But I would say there's still not a lot of positive representation. I remember when I met with the neuropsychologist who is an expert in William syndrome here in Sydney, and I met with her, and Alex was around, I think he was about seven or eight years old, and we went and had some assessments done. And she was so surprised by some of the things that he could do. You know, she reflected that there are children with his condition, not even presenting with as many challenges as him that are not achieving what he is. And I really do put that down to I didn't let that information limit what was possible. I have had the opportunity to meet families who are much further along in the journey. I've met disabled people. I've had really positive strength-based representations in my life that I thought I am not going to limit what is possible. We are going to have a big vision for Alex's life. And that has really guided us. So there were things like, you know, he was eight or nine, and he'd be like, oh, I'm hungry. And the next thing you know, he'd come out with a toasted cheese and tomato sandwich. And look, you know, I've even got an older son who at that point wasn't even doing things like that. And you'd go into the kitchen and it's a complete fon site. But he didn't. I could have wrapped him up and said, no, don't do that. But we've just really not put limitations on what's possible for him. And it's just things like that that have just really made a difference.

Emma Palmer 10:23

I think about the image I had in my mind that you took that bit of paper that was outdated and definitely deficit-based, and like fricatively or literally put it in the bin and said, we're not going to go with that. We're going to go with our child and what the potential could be. And to me, that's so refreshing to hear, but also tells us such a huge amount of what we as clinicians should be doing. Like those words, those few words when we give a diagnosis, they stay with people for their life, don't they?

Stacey Touma 10:56

Oh, absolutely. And I think it's it's not that we just want to be or need to be receiving all of the positive information about what's possible. It's we need to know what the challenges might be, what the risks might be. Like we need to understand that side of it, but it's how it's communicated to us. I think those appointments are so powerful in helping a family form a view on how they're going to support their child and how they're going to view their child. And those words really matter. And it's about countering those challenges with what is possible, you know, what you can expect and what you can do. And I think highlighting stories is such a powerful way to be able to do that.

Emma Palmer 11:44

They picked up on a few nuances of what you were saying there about, you know, it's not that we're glamorising disability. It's not that we're saying it's completely plain sailing, you know, our community still has a long way to go to be truly embracing people with disability, but honesty is what is missing. And, you know, the important thing there you said is the information was so outdated. Really, do we have any excuses in 2025 when we've got the information and communities and that ability to tap into that information to not give an actual honest, and also that the future is unknown because some of the interventions that we're bringing in now and therapies, we don't know what the impacts will be, but to limit people's potential at that early stage can be, you're right, just completely colours people's perceptions of how they are adjusting to this diagnosis. And then I guess that's what I wanted to lead on is then how did you start that conversation with Alex about his own condition? Like, can you give us some insight into that?

Stacey Touma 12:52

We are definitely still navigating that. So Alex is 13. We are really factual. So we will talk to him about you have a disability, because he does have a disability, and we want him to know that that's not a dirty word.

Emma Palmer 13:07

Yes.

Stacey Touma 13:08

And especially because he is going to come across, particularly as he's an adult, and you know, once he gets older, systems and forms that are going to use that word. And we don't want him to think it's a bad thing. So we model it at home, we use that factual language. It was a journey to get to that point. We definitely felt very uncomfortable in those very early days using that word because I think there is this societal kind of view that saying it's not a positive word, it's not always seen as a positive. So we we are very strength-based in how we speak to Alex about his disability. But I would say we're not quite there. Like sometimes he'll still say to me, like, who is William? when we're talking about William syndrome. So it's definitely a journey. I am trying to seek out how do I support him to understand his diagnosis. We've met with um psychologists, we've had conversations. So, I would say, even now, as a parent who is quite informed and connected and knows how to find information, I am really struggling to understand how I can support him to understand his genetic condition and just disability more broadly, what this means for his life.

Emma Palmer 14:24

I think that's also such an important thing that I guess we wanted GeneEQUAL to bring out is we've really identified a gap. And again, like most of the best ideas, it came from a person with intellectual disability. So they have a genetic diagnosis. It's called Coffin-Lowry syndrome, it's an incredibly rare condition. And that person really struggled after the diagnosis with the information that was presented and what it meant. And so what he said is, well, he wants to be involved in writing a guide about his condition as a person living with that condition. And then I went out and said, okay, so I'll let me find some examples. And I could not find a simple example of, you know, like, is there a guide for people with William syndrome written by a person with Williams syndrome? It seems such an obvious thing to enable families to talk, and for us as clinicians, as health professionals, to talk to a person with a genetic condition, and yet there are no resources out there that we can find. It's taken this long for us to click that this is a gap.

Stacey Touma 15:29

Oh, absolutely. I love everything you just said then. I'm like, yes, please, we would like one of those guides. And I think it's essential to have those guides for the person with a genetic condition, but also for the family. I think there needs to be those resources that sit alongside that to just help a family understand how to have those conversations, how to support that person with intellectual disability, to access that guide, to understand the guide, to be able to understand their own identity. So I think it's critical that we kind of get that right, that we have the resourcing for the person and also the family member to enable that.

Emma Palmer 16:06

Yeah, absolutely. And I think also, and we'll come on to this schools and health as well, like we all need to be working in partnership. And um another thing I wanted to bring up is, you know, when I'm thinking about that early Google search that irritates me, one of my little bugbears, is when doctors say, don't Google it. I would be Googling in the clinic, you know, of course you're gonna Google it. When I try and teach my medical students, I'm saying, give some great websites, you know, that you've looked at and then know what's there. But one of the things is even images. As you know, we did a rare disease event earlier this year, and we had Rick Guidotti, who came from the States, and he was a fashion photographer. And to me, one of the amazing things he's doing is beautiful, real pictures of people with genetic conditions. So, one, there's the images, and then the other thing I wanted to pick up on what you said was how powerful stories are. And I think some stories written from the perspectives of people with intellectual disability and genetic conditions. Again, we've been hearing how much people with intellectual disability want that. They want their stories because that's something we can all connect to as a human being, as we connect to stories. Is storytelling something you've found yourself using with Alex? Has he connected to any older people with Williams syndrome? Or?

Stacey Touma 17:34

Personally, I've found stories to be really helpful, especially when you hear stories of things like people with disability living independently or following their interests and their passions. I find that really helpful because again, it's about showing me what's possible and expectations which can help me to guide Alex. You actually really making me reflect now that I actually haven't exposed Alex to any stories, that that's probably something I should be doing. But I do find there is likely a lack of stories that are accessible for him. Um, so even sitting here, I'm trying to think of well, what stories would I expose him to? And I can't think of what that would be. I think particularly with having an intellectual disability, a lot of the information is not positioned at his level. And so quite often it does require my involvement to help break that down and help explain what that means, which I do. But again, that's not equitable and possible for all families. But I think stories and being able to show him what's possible would really be powerful for him, especially as he's a teen now, and really establishing his own identity on his own terms. Yeah. On your second point about does he know people with Williams syndrome? Not really, not as much as we would like. It's something that I wish I was a bit more proactive in connecting him with the Williams syndrome community. And I know there are community groups that do that really, really well. But he does know a lot of people with disability. So I think he is really fortunate in that way. We have a lot of friends that have children with disability, and their children are younger and older. And so it is actually quite natural for him.

Emma Palmer 19:28

Yeah, and I think by saying, you know, intellectual disability is not a dirty word. It's the combination of strengths-based and honesty and actually giving an honest perception of what the variety of people's experiences are. But also, I just wanted to come in because again, it's just speaks to the brilliance of our team. Like we ran um, we call them Community Reference Groups. So we're talking with people who have intellectual disability families and clinicians about resources after we've done interviews. And that came up from people with intellectual disability. So they're mainly teenagers that adults saying storybooks for younger kids. So that came up as their idea. And whether that's social stories to help people get used to going to health care appointments, but also to start to understand about difference. And the other thing just really wanted to reflect on as a quick thing is your point about information being accessible. So, as you know, in GeneEQUAL, we try and make everything Easy Read. That's a way of simplifying down language, going with a picture, but it's actually such a good way of getting across complex information. We couldn't find any Easy Read information about what does it mean to have an intellectual disability?

Stacey Touma 20:46

I'm not surprised by that at all. Even with Alex's genetic condition, I don't think I've ever seen anything that's Easy Read.

Emma Palmer 20:54

Yeah. So stories for people at different ages, Easy Read information, and guides written by people with the conditions. Those might be helpful things.

Stacey Touma 21:03

God, that is such a big gap.

Emma Palmer 21:04

Yeah. And it was so beautiful because it came from people with intellectual disability. It was all resources for people they saw as having more gaps than themselves. So it's for young people. And it was resources for people with higher support needs.

Stacey Touma 21:17

And Easy Read is so important. I went and completed a course through Council for Intellectual Disability about Easy Reading and how to write. And I did that personally from the perspective of being able to just use the principles of that in communicating with Alex and understanding how to break down information because there really is a lack of information that he can access now and into the future.

Emma Palmer 21:44

We had a journal article which we'd written, and the reviewer said, this is information that's important for people with intellectual disability, do an Easy Read version. And now, of course, we're like, yeah. Now we do that with all of our articles. To me, it's this principle of universal design that we should start with information that's easy for everyone. Because, like you said, if just touching back on that time when you're in that overwhelm of navigating a new diagnosis, wouldn't information that was simply broken down have been helpful for you?

Stacey Touma 22:17

Oh, absolutely, absolutely. The amount of appointments that I've been in where I have to say, can you just hold a moment and just spell that? And then I'm Googling, trying to understand what that means. My GP (General Practioner) said to me once, and I always sticks with me, that my role is to actually help you understand. So when you see a specialist, come and book in with me and I can help you understand what all of that means, which is wonderful, but slightly problematic that that's needed.

Emma Palmer 22:48

I teach medical students, they start their first year and they're so enthusiastic and they've come into this for all the right reasons. And then we teach them to speak in Latin and to distance themselves. And it's almost trying to break that down and say, well, speak as you would to your mum, to your friend. Why do we make it so complex?

Narrator 23:09

Thank you for joining us for part one of this episode with Stacey Touma. We've heard Stacey's powerful personal journey from that unexpected email about a chromosome deletion to choosing to reject limiting, deficit-focused information, and instead building a vision based on strengths and possibility. Stacey's story highlights that the words used at diagnosis matter deeply and that families deserve honest, balanced information. In "Part 2: Navigating Together", Stacey will share how her lived experience led to founding Belongside Families and reveal practical strategies for moving from feeling overwhelmed to becoming an empowered partner in health care and education.