Our health videos

Trigger warning icon

The videos show three different genetic health care meetings.  

The videos are pretend  

  • but based on people’s real experiences.
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The first video (Take 1) shows poor practice.  

The health care professionals 

  • use negative words that can make people upset 
  • ignore people with intellectual disability. 

At the end the videos we ask health professionals to think how a person with intellectual disability would feel.  

Happy face icon

The second video (Take 2) shows  

  • respectful,  
  • accessible and  
  • inclusive practice.

In the second video health professionals follow the guidelines from the GeneEQUAL project. 

It shows how happy the person with intellectual disability is when health care is done well. 

It asks health professionals how they may change what they do after watching the video series.  

People with intellectual disability and their support people may like to watch these videos to learn how health care should be.

Scenario 1 – First time meeting a genetic team

Transcript

Trigger warning

These videos are not real but are based on the lived experiences of people with intellectual disability and show poor practice. Please take a break at any time if you need to.

Information on your healthcare rights and contact details for helplines and our team can be found at the end of the video.

Activity: Watch Take One: poor practice.

While you're watching reflect on the following:

  • Are the health professionals following the recommendations from the GeneEQUAL program, which you can find here on this site?
  • Are the health professionals following mandatory requirements of all healthcare professionals to make reasonable adjustments for people with disability?

Genetic counsellor: "Hello. You must be Mary. We spoke on the phone. You found the clinic okay?"

Mary: "Thank you so much for the directions, they were very useful."

Genetic counsellor: "Good, well, thank you for coming in it. It'll be such a help to have you here, given you know the family. This must be Jess."

Mary: "Yes, that's Jess."

Genetic counsellor: "Come through to the clinic room."

Mary: "Awesome. Thank you."

Genetic counsellor: "This way. Okay. We're a bit short of chairs. Sorry about that."

Genetic counsellor: "Dr. Abbott will join us soon. She's very busy. So, Mary, I thought it'll save time if we could go through as much background information as possible. As you know, Dr. Saunders has referred Jess to see if we can find a genetic cause for her disability. So, it would be good if I could get information about all Jess's problems from you before the doctor comes in. Perhaps if we could start with whether she met her milestones growing up, whether she was delayed walking, talking, that sort of thing. Essentially, how she went at school, how severe her intellectual impairment is. Is that okay?"

Mary: "Absolutely. It has been very difficult for a long time. She has been impaired since her childhood and she didn't even go to school with normal children."

Genetic counsellor: "That's so hard. Look, we will find out more about the family history too because I understand from the referral, it looks like there are other people in the family with similar problems. Yeah, and the other thing is the doctor will examine her, probably take some photos. Do the disabled family members have similar dysmorphic features?"

Mary: "They do, they do."

Genetic counsellor: "Okay."

Post viewing activity: Pause and reflect on how Jess may be feeling in this appointment.

Now watch Take Two: Accessible inclusive and respectful practice.

This is the next video in this series. This is not how healthcare should be. If you or someone you support has had a negative healthcare experience, you can learn more about your healthcare rights and what you can do next at New South Wales Council for Intellectual Disability. If you are feeling upset, you can talk to someone who supports you, or call Mental Healthline at 1800 011 511, Lifeline at 13 11 14, or People With Disability Australia at 9370 3100.Keen to learn more? There are more videos and an accompanying educational toolkit including Easy Read genetic health literacy resources available at the Centre for Genetics Education website. You can find our contact details and access this video series and many more resources on this website.

Transcript

Activity: Now watch Take Two: Accessible, inclusive and respectful practice.

While you're watching reflect on the following:

  • Are the health professionals following the recommendations from the GeneEQUAL program, which you can find here on this site?
  • Are the health professionals following mandatory requirements of all healthcare professionals to make reasonable adjustments for people with disability?

Genetic counsellor: "Hello, you must be Jess. Jess, I'm Jackie. I'm a genetic counsellor and I'll be with you for your appointment today with Dr. Bella. This must be Mary. We spoke on the phone. How did you go getting here, was your trip okay?"

Mary: "Thank you. Thank you for the directions."

Genetic counsellor: "That's all right. Thank you for coming in. I hope the traffic wasn't too bad."

Mary: "It was okay, wasn't it?."

Genetic counsellor: "Yeah. Well, it's not much fun sitting around in the waiting room, so if you'd like to come through to the room where the appointment is going to be, we can wait in there for Dr. Bella and have a bit of a chat."

Mary: "Yeah, okay."

Genetic counsellor: "Now Jess, you get to choose who you would like in with you for your appointment. Would you like Mary to come with you?"

Jess: "Yes."

Genetic counsellor: "Okay. So lovely to meet you."

Genetic counsellor: "Jess, have a seat there."

Jess: "Thank you."

Genetic counsellor: "This is your appointment, so the main thing is I want you to feel comfortable and feel free to ask us any questions. Dr. Bella is running a bit late, but it gives us a lovely opportunity to have a chat and I can help explain to you what you can expect from the appointment this morning, and really, the most important thing is that you feel comfortable. This is your appointment. Can you tell me what you'd like to get from the appointment today?"

Jess: "I want to know why I have a disability and some health problems."

Genetic counsellor: "That's a great question. And look I can't promise you that we will find an answer. I will promise you that we'll try. Also in genetics it often takes us a long time to find answers. So we definitely won't have an answer for you today. But I'm happy to explain to you the process, what's involved, and keep you informed. Okay, the other thing is to help us find answers, one of the things we do is ask a lot of questions, but it's important that you feel comfortable and if there are any questions that we ask that you don't want to answer, that's fine to say no. Okay. The other thing is that when the doctor comes in, she may do a little health check. Sometimes we measure how tall you are, the size of your head. We do some funny things in genetics sometimes, but just so you're prepared that that may be happening but also you. You can say no at any time. All right, if you don't feel comfortable, that's totally fine. Okay. Also, we sometimes use difficult words and if there's anything that you're not understanding please stop me. The other thing is we do have some information in Easy Read. Do you use Easy Read?"

Jess: "I love Easy Read."

Genetic counsellor: "Great, I love Easy Read too. It's so helpful. So I'll definitely have some information in Easy Read for you that we can go through together. All right. So I guess to start with it, it would be really helpful for me to understand a little bit more about the sorts of things that you enjoy."

Jess: "I love swimming."

Genetic counsellor: "I bet you can't wait for summer."

Jess: "Yeah, I can't wait."

Genetic counsellor: "It's been getting warmer, hasn't it? Do you swim in competitions?"

Jess: "Yeah, I've won one competition so far."

Genetic counsellor: "Wow, amazing, and you train?"

Jess: "Yeah, on the weekends."

Genetic counsellor: "It must be hard work. Keep you fit?"

Genetic counsellor: "Look, I think in terms of your original question of wanting to find answers about your disability, can you explain to me a little bit about how that affects you?"

Jess: "Yeah, it makes it difficult for me to learn new things."

Genetic counsellor: "That must be frustrating."

Jess: "Yeah, very frustrating."

Genetic counsellor: "Yeah, because I can tell you're the sort of person that tries really hard, that would be very frustrating. Are you happy too if I ask Mary some questions?"

Jess: "Yes, of course."

Genetic counsellor: "Yeah, okay. It can feel pretty uncomfortable when people are talking about you. So, please feel free to let me know if you're feeling uncomfortable, and just ask us to stop, or if Mary gets something wrong. Then you correct her. But yes, if I could ask Mary some questions about when you were a baby and growing up that would be really helpful."

Jess: "Sure."

Genetic counsellor: "Alright."

Post viewing activity: Now you have seen both videos. Please reflect on the following:

  • How would Jess feel at the end of each appointment?
  • What key techniques or approaches would you like to apply in your own clinical practice?
  • And what is one key technique or approach you can commit to doing?

Questions, compliments, feedback? Please contact us using the link in the description below.

Keen to learn more? There are more videos and an accompanying educational toolkit including Easy Read genetic health literacy resources available at the Centre for Genetics Education website.

You can find our contact details and access this video series and many more resources on this website.

This video was co-produced with people with intellectual disability and based on their real-life experiences with clinical care, and their opinions and preferences for more inclusive, accessible, and respectful genetic healthcare.

It features members of the GeneEQUAL inclusive research team: Skie Sarfaraz, Jackie Boyle, Emma Palmer and Iva Strnadová.

Thank you for participating in this professional development course.

GeneEQUAL acknowledges the financial support from the New South Wales Health Transforming Healthcare Through Genomic Technologies Initiative, funded by the Australian Government through Stage One of the Health Innovation Fund. We thank the participants in our interviews, focus group, and multi-stakeholder Advisory Committee for their wisdom and guidance, and the people with intellectual disability who took part in three co-production workshops in Metropolitan and rural areas to help co-create these resources.

Scenario 2 – Getting a genetic test result

Transcript

Trigger warning

These videos are not real but are based on the lived experiences of people with intellectual disability and show poor practice.

Please take a break at any time if you need to. Information on your health care rights and contact details for helplines and our team can be found at the end of the video.

Activity: Watch Take One: poor practice.

While you're watching reflect on the following:

  • Are the health professionals following the recommendations from the GeneEQUAL program, which you can find here on this site?
  • Are the health professionals following mandatory requirements of all healthcare professionals to make reasonable adjustments for people with disability?

Doctor: "Okay, Mary Atkinson?"

Mary: "Yes, that's me."

Doctor: "Wonderful. We're running a bit late, come through, bring Jess with you."

Doctor: "Jess … okay. So the reports of Jess's tests are back. That's the report, Mary."

Mary: "Wow. What, what does that mean?"

Doctor: "Yeah. It's kind of written in 'lab speak'. There's not much we can do about that. But I'll just talk you through it. So basically the laboratory found Jess has a mutation. So a pathogenic mutation in this gene, which is called CLCN4. Okay, so pathogenic means that the lab are sure that this

is an explanation for Jess's ID, for her health conditions, everything, you know that you came to with us as problems and issues."

Doctor: "Okay, so I'll step you through that a bit more. The condition has also got another name - Raynaud-Claes syndrome. Okay. So those are the sort of two names, it's basically the same condition. Also really important, it says here that it's a de novo condition, which is kind of Latin for new, which means this started for the very first time with Jess. Okay. So actually it's really good news for the rest of the family. It means that no one else could have this disorder."

Mary: "Okay, what does that mean if Jess wants to have children?"

Doctor: "It's not very likely, but if it was the case and she found out that she was pregnant, basically, so … she's got two copies of this gene. Okay, and what this lab report is showing us is, she's got one working copy of the gene and one faulty copy. Okay. So every time she has a child or is pregnant, it's like flipping a coin…"

Mary: "Okay."

Doctor: "…whether the baby gets the working copy or the faulty copy. So it's a one in two chance - 50/50. 50% risk that she could have a child with the same condition, but there'd be options, okay, so she could have a termination, and we could make sure this disorder doesn't get passed on to the next generation. So it's really many more options than would have been there in the past, which is great news."

Doctor: "And yeah, I guess we looked a little bit in the literature - the lab's written there. So there are other people around the world, other cases, with very similar features, so everything makes sense. It doesn't look like there's any management guidelines for this condition, but reading through her notes, she's had the right health checks. It would be important to give a copy to your GP. That's another copy to give your GP. I'd make an appointment to give that to your GP."

Doctor: "That's it, it's really good news. It's a de novo, pathogenic mutation. We know clearly what the risk would be if Jess were pregnant. We've got an explanation."

Mary: "Will we see you again?"

Doctor: "No, you don't need to see me again unless Jess was pregnant. Otherwise, no, your GP can take it from here."

Post viewing activity: Pause and reflect on how Jess may be feeling in this appointment.

Now watch Take Two: Accessible inclusive and respectful practice. The link is provided below.

It is the next video in this series. This is not how health care should be. If you or someone you support has had a negative health care experience, you can learn more about your healthcare rights and what you can do next at New South Wales Council for Intellectual Disability.

If you are feeling upset, you can talk to someone who supports you or call Mental Healthline at 1800 011 511, Lifeline at 13 11 14 or People With Disability Australia at 9370 3100.

Keen to learn more?

There are more videos and an accompanying educational toolkit including Easy Read genetic health literacy resources available at the Centre for Genetics Education website.

You can find our contact details and access this video series and many more resources on this website.

Transcript

Activity: Now watch Take Two: Accessible, inclusive and respectful practice.

While you're watching reflect on the following:

  • Are the health professionals following the recommendations from the GeneEQUAL program, which you can find here on this site?
  • Are the health professionals following mandatory requirements of all healthcare professionals to make reasonable adjustments for people with disability?

Doctor: "Hi Jess, it's lovely to see you. I can't believe it's been four months. How's that swimming going?"

Jess: "Oh, great. I got an award."

Doctor: "Oh, you've got a picture on your phone. I'd love to see. Oh, wow. So cool. Oh fabulous. Do you feel okay to come in?"

Jess: "Yeah."

Doctor: "Yeah. Alright, come on through. And Mary, lovely to see you. Come on, Jess. Do you remember where it is?"

Jess: "Yeah."

Doctor: "So, Jess, do you remember why you're here today?"

Jess: "Yeah, to get my results back."

Doctor: "That's right. Now I can hear you're a little bit nervous? Yeah, so that's completely normal. Often people feel anxious when they're waiting for their genetic test results. How's it been going for you? You've been a bit nervous?"

Jess: "Yeah."

Doctor: "Did you speak to Jackie?"

Jess: "Oh, yeah. Yeah, I spoke with Jackie on the phone. So that helped me calm a little bit."

Genetic counsellor: "Yeah, I'm glad that was helpful."

Doctor: "So, the big news today is I do have a genetic test report for you. So that's back. But remember, this is all about your choices. Okay, so do you want to go ahead and get that report and me explain that today? Because we can put it off to another day, that's fine."

Jess: "Mary and I had a chat about it and we decided we want to go ahead."

Doctor: "Okay. All right, what the test showed is that you do have a genetic condition. Okay. And that that is an explanation for the things that you came and said you were worried about. So they were why you've had some learning differences, and some of the health things like that reflux where it feels really uncomfortable after meals, okay. So it's pretty big news. Are you happy for me to keep on talking?"

Jess: "Yeah."

Doctor: "Sure, okay. So pretty much everyone, when I am giving them big news like this, they kind of forget everything that I've said. Okay. That's completely normal because we go into almost like a shock. So, would you like to record what we're talking about on your phone? So at home you can go over and have another listen."

Jess: "Yeah. Yeah, actually that would be…thank you."

Doctor: "All right. Okay for me to go on?"

Jess: "Yeah."

Doctor: "All right. So I'll just recap that bit. So as I've said the test has shown that you've got a genetic condition that explains why you've had differences with your learning and some of your health conditions. Genes and genetics is really complicated. Do you remember we talked through this booklet before? And explained a little bit about genes being like these little instructions in our body that help make us who we are. Yeah. So, genes are named often in a really funny way, just a combination of letters and numbers. So this little gene that's causing the genetic condition for you is called CLCN4. Okay, and what I've done is I've done a little report here, which is just for you. It's your name, and here I've written some more information. So that's that gene name."

Jess: "CLCN4"

Doctor: "Perfect, spot on. Okay. So this is what I get from the laboratory, this is their report, but I must admit it's really hard to understand."

Genetic counsellor: "I struggle to understand it."

Doctor: "So that's kind of important to have in your records. Maybe you could put it in your folder. But this is why I did that report because it's explaining the most important things. Okay, does that sound alright?"

Jess: "Yeah."

Doctor: "Okay, fabulous. So, what we can do is just go through all of this again in another appointment, but I think the most important things right now is that, like you can see here, that's the name of the condition, and it's an explanation for your learning differences, and for yourhealth conditions."

Jess: "Yeah."

Doctor: "Okay."

Genetic counsellor: "I've actually got some photos, a couple of really lovely young people with the same genetic condition. They're happy for me to share their photos with you. So this is Sam and Ellie, and they live in Sydney, and they're really happy to talk to people who have just found out that they have CLCN4."

Jess: "Just like me."

Genetic counsellor: "Yeah. Yeah, so, they often have useful stories to share about their own life experience. So I'm happy to give you that information."

Doctor: "While you're doing that, I'm just wondering - is it okay to carry on, have you got some questions or things you want to ask us?"

Jess: "Not right now. I think that's a lot of information"

Doctor: "It can be quite hard."

Genetic counsellor: "Yeah, if you both wanted to write a list of questions, just when you think of it. Sometimes people find this really helpful. So if you, as you think of questions, just write them down, and then that way next time you come back to see us, you've got your list ready. I've got some examples of questions that people often ask, so if you'd like me to give that to you, you can tick off whether they're things you're interested in knowing more about. Does that sound like something that could be helpful."

Jess: "Yeah."

Doctor: "How are you feeling about all of that?"

Jess: "Yeah. Can I have a hug?"

Doctor: "Okay. Big news."

Genetic counsellor: "I guess the most important thing is that this doesn't change anything about who you are. You're still the most amazing person, swimmer… You're Jess. This hasn't changed anything about who you are. It just gives an explanation. We all have changes in our genes."

Doctor: "Yeah, I do."

Genetic counsellor: "Most of us even don't know what those changes are, and tiny little gene changes can affect people in different ways. So, you know, it just so happens that you have a change, a tiny little change in that CLCN4 gene. But it hasn't changed anything about who you are. It really just gives an explanation. You know how you were telling me, it's always been really hard to learn, even though you try so hard. And that's really because that gene has just made it difficult - more difficult - for your brain to put things together. You just need a little bit more time than some people, and maybe learning things in different ways."

Doctor: "The other thing to mention is we'll be doing a report back to your GP, if you're happy with that. Is that alright?

Jess: "Yeah."

Doctor: "And in that we're going to recommend some health checks as well. So that's the other really important thing about this result, is it means that you can get an explanation, but also the best possible care and support, and health care. So we can get those health checks in place and keep you healthy, which is what we want. Yeah? And it gives you lots more options and information than you had before. But that's not to take away that it's a big bit of news today."

Genetic counsellor: "Yeah, and I guess on that point too, I know that you had organised to see your counsellor, Alice. So this will be a really good time to talk through what it feels like to get a diagnosis, you know to find out the genetic condition.

And we're happy to talk to Alice too, and fill her in if you'd like us to, so that she understands what the information is that you've been given."

Doctor: "You've got your things to read, and you know how to contact us. Okay. And you've got that follow up with Alice. Beautiful. Alright, so, please, if you're feeling worried, just contact us. We're always happy to talk to you."

Jess: "Thank you."

Doctor: "No worries."

Post-viewing activity: Now you have seen both videos.

Please reflect on the following:

  • How would Jess feel at the end of each appointment?
  • What key techniques or approaches would you like to apply in your own clinical practice?
  • And what is one key technique or approach you can commit to doing?

Questions, compliments, feedback? Please contact us using the link in the description below.

Keen to learn more? There are more videos and an accompanying educational toolkit including Easy Read genetic health literacy resources available at the Centre for Genetics Education website.

You can find our contact details and access this video series and many more resources on this website.

This video was co-produced with people with intellectual disability, and based on their real-life experiences with clinical care, and their opinions and preferences for more inclusive, accessible and respectful genetic health care.

It features members of the GeneEQUAL inclusive research team Skie Sarfaraz, Jackie Boyle, Emma Palmer, and Iva Strnadová.

Thank you for participating in this professional development course.

GeneEQUAL acknowledges the financial support from the New South Wales Health Transforming Healthcare through Genomic Technologies Initiative, funded by the Australian Government through Stage 1 of the Health Innovation Fund. We thank the participants in our interviews, focus group, and multi-stakeholder advisory committee for their wisdom and guidance, and the people with intellectual disability who took part in three co-production workshops in Metropolitan and rural areas to help co-create these resources.

Scenario 3 – Discussing a new genetic diagnosis with the medical team

Transcript

Trigger warning

These videos are not real but are based on the lived experiences of people with intellectual disability and show poor practice.

Please take a break at any time if you need to. Information on your health care rights and contact details for helplines and our team can be found at the end of the video.

While you're watching reflect on the following:

  • Are the health professionals following the recommendations from the GeneEQUAL program, which you can find here on this site?
  • Are the health professionals following mandatory requirements of all healthcare professionals to make reasonable adjustments for people with disability?

Doctor: "Okay, so hello, Mary. What can I do for you today? I don't think we've met."

Mary: "We have actually met before and I've booked the appointment because we have been seeing with Jess the genetic counselling team at the kids' hospital, and they said they sent a report with a diagnosis. Something about a C something C."

Doctor: "Okay. Let me see if I can find it. Oh, yep. That's come in. Gosh. It's a long letter. From Dr Abbott. Does that sound right?"

Mary: "Yes."

Doctor: "Okay. Yeah. Fabulous. Gosh that's confusing. Genetics has really moved on since I was at Medical School. It's all very interesting. Okay, so it's saying that she has got a pathogenic mutation in a gene I've never heard of. CLCN4. Raynaud-Claes Syndrome. Causes ID. Oh, okay. So they seem to have said all that's an explanation of things for Jess. We've got a diagnosis, which is super news."

Mary: "But I don't really understand the letter, and what does it mean for Jess and family?"

Doctor: "Oh, okay - what does it mean? Let me just have a look up, a little bit more. It's X-linked. So it's like Fragile X. That's a bit confusing. Okay, so just… Alright. So from what I can see it's an incredibly rare condition. No, there's no treatments or anything like that, but we know the inheritance pattern. So it's X-linked which would mean that if she has children, it would be one in two, a 50/50 chance that the children were affected. So basically, I'm not sure of how much they explained. It's X-linked. So that means…it's a bit confusing."

Doctor: "Usually boys are more affected, it can be quite severe, but for Jess so she could have a severely affected child. And so, now that we know what the genetic change is, they could offer testing in the pregnancy, so she'd have an option like termination. Yeah, and we've got a diagnosis. There's hardly anything there. I can't even find, like I said, a management guideline, so I wouldn't bother going on the internet. Although you'll probably become the expert and be telling every doctor you meet about this. So that's interesting. But yeah, that's really what it is, a diagnosis."

Mary: "Okay."

Doctor: "Is there anything else?"

Mary: "We need a prescription for the reflux medication."

Doctor: "Oh sure, now I can do that. All right. What is she normally on? Let me just check. Okay? Okay, super. There you go. Excellent. So that's it. Yep, super."

Mary: "Okay. Thank you. Let's go Jess."

Post viewing activity: Pause and reflect on how Jess may be feeling in this appointment.

Now watch Take Two: Accessible, inclusive and respectful practice. The link is provided below.

This is not how health care should be. If you or someone you support has had a negative health care experience, you can learn more about your health care rights and what you can do next at New South Wales Council for Intellectual Disability.

If you are feeling upset you can talk to someone who supports you or call Mental Health Line at 1800 011 511, Lifeline at 13 11 14, or People With Disability Australia at 9370 3100.

Keen to learn more?

There are more videos and an accompanying educational toolkit including Easy Read genetic health literacy resources available at the Centre for Genetics Education website.

You can find our contact details and access this video series and many more resources on this website.

Transcript

Activity: Watch Take One: poor practice.

While you're watching reflect on the following:

  • Are the health professionals following the recommendations from the GeneEQUAL program, which you can find here on this site?
  • Are the health professionals following mandatory requirements of all healthcare professionals to make reasonable adjustments for people with disability?

Doctor: "Hi Jess. How are you going?"

Jess: "Hi, good."

Doctor: "Do you feel okay to come in?"

Jess: "Yeah."

Doctor: "Now I see you've got Mary with you. Would you like Mary to come too?"

Jess: "Yes, please?"

Doctor: "Brilliant. All right, both of you come through."

Doctor: "Okay, Jess. So I've got a letter all about you from the hospital from Dr. Bella Abbott. It's all about you. Is that what you wanted to talk about today?"

Jess: "Yeah, I was I was thinking it was all so confusing."

Doctor: "Sure, that's really really normal because it looks like they talk through a new diagnosis for you. And what most people do is they've got a head full of questions after that but also lots of emotions, so I just really want to start off by checking in with how you're feeling."

Jess: "It's a bit of a shock and I spoke with Jackie my genetic counsellor."

Doctor: "Oh, yeah. Yeah."

Jess: "It still feels a bit weird knowing that I've got a gene change"

Doctor: "Sure. Okay. So what about Alice as well? Have you checked in with Alice your counsellor?"

Jess: "I have an appointment with her soon."

Doctor: "Okay. All right. That's wonderful. So I think having all these mix of emotions is really really normal. Okay on the one hand, you might be feeling a little bit of relief but also a lot of confusion and lots and lots of questions. So that's really normal."

Doctor: "Do you have a list of questions that you wanted to go through today? Because I really want to make sure we're focusing on what you want to talk about."

Jess: "Yeah, we made a list of questions."

Doctor: "Oh, super. Okay is that in your folder? Oh here. You've got it. Brilliant. Okay fabulous. So let me just pull it up as well -- I've got it on the computer. So what did you have at the top of your list? What was your most important question?"

Jess: "So I wanted to know how many people have this condition and how can I meet them?"

Doctor: "Okay. Okay. What a great question."

Doctor: "All right, so I have to admit something to you, which is I have never had a patient with CLCN4 before but that is okay. It's a rare condition. And I've got lots and lots of patients with rare conditions, in fact one in 12 people in Australia have got a rare condition. Okay, so though they're individually rare there's lots of them. And so that's really normal for me. That's okay. And what we'll do is we'll just learn about this condition together and I'll be here to find out information for any questions you've got and we can share that."

Doctor: "Okay. So what Doctor Abbott's done is she's pointed me to a support group. So let me just get that. Here we go. So there's a CLCN4 support group actually and if I have a look here, they've got families and information about families and it looks like there's 12 families in Australia. Okay. Of course. It's quite nice. If you have a look at the website, they've got little profiles, a little information about different families. So this is someone from Denmark, okay, and there's some pictures and you can read a little bit more about them."

Doctor: "You also asked could you get to meet anyone and what it looks like is through the support group, they've got a Facebook group. Do you use Facebook? And yeah. Yeah so you can join that way and okay and meet those families whenever you want to. When you feel ready."

Doctor: "So maybe we could, if you've got your communications folder maybe we could put that in there. So we've got some information about the support group. I think that there's a QR code and some information here. So I'll make sure we put that there. It would be some information for you. All right, is that okay for that question? Did that feel answered?"

Jess: "Yeah. Yeah."

Doctor: "Brilliant. So what was your next question?"

Jess: "Do I need any other health checks?"

Doctor: "Okay. What another great question. So what's really lovely is from the hospital they've done me a little plan and it's got what health checks you need and when you need it, so that will be really helpful to add to your yearly health check. So again, why don't we - when we go to reception we can print this off and get that into your folder as well. So it will remind me of all the things that we need to do and then we can just go through that checklist and make sure you're having all of the health checks to keep you healthy. How does that sound?"

Jess: "Yeah."

Doctor: "Okay. Now we've already covered quite a bit. Does it feel like you'd like to keep going or do you think that's about enough for today?"

Mary: "I think it's a lot of information isn't it? And we have a lot of reading to do."

Jess: "Yeah, yeah and to join the group. Yeah."

Mary: "Yeah, so maybe another appointment?"

Jess: "Good."

Doctor: "Yeah. Okay. Well, why don't we go together to reception and we'll find a time that works with both of us? We'll get that in our diaries and then we'll follow up then and we'll just take it at your own pace. I think the really important thing is this is huge news. Yeah, everyone who has news like this just needs time. We'll just take it at your pace. Now. In the meantime, you've got Alice if you need some extra support. And what was your genetic counsellor, Jackie -- that's your genetic counsellor? And of course, you know, you can always contact us as well. Okay? All right. Does that feel enough for today? It sounds like a plan."

Jess: "Yeah, we've got a plan."

Doctor: "Awesome. Okay, so shall we go together? Yep? Off we go."

Post viewing activity: Now you have seen both videos.

Please reflect on the following:

  • How would Jess feel at the end of each appointment?
  • What key techniques or approaches would you like to apply in your own clinical practice?
  • And what is one key technique or approach you can commit to doing?

Questions? Compliments? Feedback? Please contact us.

Keen to learn more?

There are more videos and an accompanying educational toolkit including Easy Read genetic health literacy resources available at the Centre for Genetics Education website.

You can find our contact details and access this video series and many more resources on this website.

This video was co-pro produced with people with intellectual disability and based on their real-life experiences with clinical care and their opinions and preferences for more inclusive and respectful genetic health care. It features members of the GeneEQUAL inclusive research team Skie Sarfaraz, Jackie Boyle, Emma Palmer and Iva Strnadová.

Thank you for participating in this professional development course.

GeneEQUAL acknowledges the financial support from the New South Wales Health Transforming Health Care through Genomic Technologies Initiative funded by the Australian Government through Stage One of the Health Innovation Fund. We thank the participants in our interviews, focus group and multi-stakeholder advisory committee for their wisdom and guidance and the people with intellectual disability who took part in three co-production workshops in metropolitan and rural areas to help co-create these resources.