Childhood Dementia
Holding Onto Hope
Transcript
[BEGINNING OF RECORDED MATERIAL]
Kevyn: Hello, my name is Kevyn. I am a First Nations advocate with Dementia Australia. For more than 50,000 years, we have come together to trade knowledge, to learn and to teach. Today, we joined to keep up that tradition. So, with that in mind, we now pay our respects to the traditional owners, to Elders past and present to those First Nations people joining us here today.
[Music]
[Music & Children's laughter]
Eli: Hannah is my little rainbow girl. She is still the happiest person I know. She still gives you cuddles that will crack ribs. She's still amazingly, Hannah. That diagnosis pretty much stopped us for a little while. And then, it's been a lot of time for me to realise that life doesn't stop. The path we're on, you know what the outcome's going to be. So, the hope is finding those moments. "That was my beard." "All right."
Hannah: "This sucks."
Eli: "Okay, love you little bear."
Hannah: "The camera, Ben."
Eli: But when things do happen and things get very bleak, they're the little candle in the darkness.
Hannah: "I love you, too."
Rachel: People always make the cliche to me, "Oh, you're making such good memories with her." I'm like, "Stop saying to me about the fact I'm making memories." Because that idea of making memories is actually denying there is hope.
[Music]
Jim: I'm Jim Rogers.
Hamish: And I'm Hamish Macdonald.
Jim: And this is Hold the Moment, a podcast from Dementia Australia.
Hamish: We're hearing from people living with dementia, people caring for their loved ones, and the professionals who help out along the way.
Jim: When I was diagnosed with younger onset Alzheimer's, it tipped my world upside down. A dementia diagnosis will shock anyone, but especially surprised me because I was still only in my fifties. Imagine then if your diagnosis came when you were a child.
Hamish: Yeah, that's right. Dementia can and does impact children too. I'll just let that sink in. You might never have heard of it before. But childhood dementia is actually an umbrella term for more than 140 rare, genetic disorders that cause progressive brain damage in children.
Jim: Rachel and Eli are parents living in regional New South Wales and they have two children. Their eldest is Hannah, who's living with childhood dementia.
Rachel: Hannah started, well, school and preschool as very, a very, very bright independent, child. I mean, when she was into kindergarten, she actually won like the public speaking competition for their year group. And then, about halfway through the year, I was like, "Hmm, things are starting to not seem quite right." So, we started off, you know, with a speech therapist, because the other children in her year, you know, were taking off, and she was sort of plateauing. And then, you know, so then we started off with an autism diagnosis and then that then turned into an intellectual disability diagnosis, but yet things didn't still seem to be right. And then the floodgates opened. So then suddenly, the other therapists and other people that were in our lives started commenting that things didn't quite seem to be right. And what was the final or the trigger to get towards the diagnosis was that Hannah had started having seizures. So, had an MRI. So, this is when she was, just, had just turned 10. Like, it was her 13th birthday on Friday. So, it was literally exactly this time of the year, October. Um, she had, she had the seizures and then, so then the MRI and that's when they saw the brain atrophy and 10-year-old children do not have brain atrophy. So, then that was then the path, the path to genetic testing, and then finally the diagnosis of childhood dementia. So, it took, it took about two years from, so I was going, "What's going on?" to actually having the seizures and then the, the diagnosis of childhood dementia.
Hamish: In those early stages before you knew what was going on, what justifications or explanations were you giving yourself for the subtle differences that you were seeing in Hannah?
Eli: That's a, that's a really tough question. I was looking at Hannah going, almost in denial. "No, there's nothing wrong here." It's just, "She's just one of those weird kids you encounter every once in a while." The clincher for me was the MRI that Rachel mentioned after the seizures. I was in the MRI room with Hannah and I did the normal things you do when you go into, near a magnet that size. Took all my keys out of my pockets, not on my phone, on the bench and all that sort of stuff, but I'd forgotten I'd left my steel cap boots on. So, after about 45 minutes of MRI, we walk out. And, for me looking at the M-, I'm not a neurologist, I'm not a medical practitioner, but I know what a normal MRI looks like. And it wasn’t, and it was like, "Well, shit! This is the path we're on."
Hamish: You mentioned that Hannah had done very well early on.
Eli: Oh yeah, she was, we're, we're, we're both.
Jim: Clever.
Rachel: No, it's not so much that, like we value education as teachers. (-Absolutely.) And so she had been brought up in a very, you know, rich environment where she'd been read to, she'd been encouraged (Yeah.) to learn, you know. We, we'd, I'd take her grocery shopping. We'd be having conversations about what fruit and vegetables we were going to buy. I mean, just a norm... Well, what I would consider a normal, you know, preschool education of (-Yeah) bringing up a, bringing up a child. And that's why Hannah has, was later in being diagnosed, because (- Yeah.) I think because we'd managed to enrich, enrich her as a younger child. Because the type of dementia Hannah has, generally the, the children, well there is only 17 recorded worldwide in the literature. And all of those 17, they were all diagnosed as toddlers, very early children. I mean, we are talking about childhood dementia here. And apart from one, they all had died by the time they were 10. Hannah was diagnosed at 10. And I think the fact that we'd managed to enrich her education and support her and worked through with therapy and other bits and pieces, we'd sort of, in some ways masked, masked the symptoms until you just couldn't mask it anymore. And my number one message to all mothers, whether it's talking about childhood dementia or anything else, is trust your intuition. There's, if you think there's something, then follow through. But unfortunately, when you're up against professionals that "Well, what would you know?" "Well, I do know, I'm the child's mother, I know." Anyway, so...
Eli: Yeah, there's something going on here, but we're not sure what it is. I mean, when we had the original autism and intellectual disability notice, one of the good slash bad things was everybody's got a phone these days that's got a selfie camera. So, you do selfies and videos with the kids, and I've got tonnes of them where the kids are eating my phone and that sort of stuff. And I look back on the videos I used to shoot with Hannah when she was four or five, that sort of stuff. And I go, "Ohhh."
Jim: Can you see those signs now?
Eli: You can. And they're so expletingly obvious. And you look back and you go, "How the... did I miss that?" - (Mm. Yeah.) I'm an educational professional for God's sake. I should be picking this up and I didn't.
Hamish: What is it that you see when you look back at those videos?
Eli: A lot of repetitive behaviours. - (Mm.) Which is more autism than anything else. Err, we did things like we read to Hannah every night. We, we made sure, we watched, sat down and watched videos with her. All of these sort of things. Not because we're teachers and that's what you should be doing, but because we, we seriously invested in our kids' intellectual development, and everyone says, do your Sudokus and those sort of things to stave off Alzheimer's and that sort of stuff. and I think that's what we did. Inadvertently, was mask it. Because we saw Hannah went into school, and with being able to read and things like that.
Jim: So, she was really ahead of the game (-She was, she...) because of your input.
Eli: Yeah, she was ahead of the game and then everybody else went and, and
Rachel: And then started to decline.
Eli: Yeah.
Hamish: I can't imagine how hard this has been for you guys like to handle, I mean, once Hannah was diagnosed with childhood dementia, which is just, it's just unbelievable. It's the last thing you ever want to hear. What was your initial reaction? How did you get your head around that?
Eli: Well, that was interesting. We were having a conversation with Owen, the paediatrician was like, "Right, let's see if we can't figure out what's the cause for this." So myself, Rachel, and Hannah all had bloods taken and they were sent off to Finland for genetic testing because that's where it's done. And then we had a big meeting with the geneticist and the paediatrician and Rachel and I, and, and they said, "Right, Hannah has UBTF neurodegenerative disorder." And both Rachel and I went "Yep, cool, thanks." "That's brilliant, no problems."
Rachel: Now what?
Eli: Because, cause we didn't have a, a clue what this was. And, and you know, Rachel's a brilliant PhD researcher and I sort of faked my way through mine. But we can research. So, we went and did a bit of a literature review and after we had a read of what this pathway is, it's like, "Oh, my God! Crap."
Hamish: So, it was not put to you as childhood dementia initially?
Rachel: No, it was literally, this is the genetic abnormality.
Hamish: So how did you come to the realisation that it falls into that category?
Rachel: So that was our amazing GP to be honest. I know Eli had seen the MRIs and he had his opinion, but I didn't actually, I hadn't seen those. And so, I turned up to, on a, I could tell you it was, it was Thursday, the 17th of December, because school was, the school break, broke up the next day. And I was thought I was turning up just to get some blood test results and the things back to take back to the specialist from our GP. And, he was like, "Oh, brain atrophy." Talking about all these things that were going on and I didn't, I walked out of there going, "What the hell?" Like, I didn't, I was completely blindsided because our GP had thought the specialist had contacted us. What was, you know, a 10-minute consultation to collect results was an hour of "Oh wow, okay." And I do feel so sorry for him because he was, he didn't know that I didn't know. And so, then turning up to school the next day, it was the very final day of term, it was the whole school pool party. Thankfully, none of the children in front of me actually did anything stupid. because I was there in body, but...
Jim: Not in mind.
Rachel: Not in mind. I couldn't even speak that day. But I mean, of course, you know, I had to turn up because that's the expectation of, of you know, and then just the whole day just absolutely reeling. And that's when you realise, you know, just thinking about all these things, realising that. And it was that Christmas then I just couldn't function without thinking about Hannah dying and all the end-of-life things because that was sort of, I mean, I now understand that's part of that trauma and grief and shock. But no one had actually spoken to me about any of that. And so, just that whole like, yeah, I'm like, my, my world was...
Jim: Smashed.
Rachel: Absolutely smashed. I mean Hannah was, I mean I know, I know children are absolute gifts, but Hannah had been very hard to, to come by. I mean, we'd had multiple miscarriages and things before she was born. So, I mean, she was an absolute precious gift. And then to be told that she's being taken away from me again. I mean, yeah, I was, it was devastating. We've then been doing a lot of work with the Childhood Dementia Initiative because at the time there was no support anywhere. I rang, you know, you go, "Okay, so it's childhood dementia." "Oh, Google, okay, where can I get support?" Nowhere, because all the dementia support people, uh, for
Jim: Older people.
Rachel: You know, older, well I, I wouldn't sort say it, I mean I know there's young onset...
Hamish: Oh, yeah, yeah you can, you can call Jim, old.
[LAUGHTER]
Jim: Oh, yeah, he's always going to stick a knife in.
Rachel: But it's adult, adult onset, it's not (- Yeah.) children. And so, there was just nowhere to get any help, any information, any support. And, and then finally, um, I mean I did make contact with the Childhood Dementia Initiative and now we've worked really closely to start to pull, to make resources. So, one of the things we've made is what we call the 'Finding Hope Letter,' which is for families that were in that position of going, "We've just had this information." "We've just had this diagnosis, now what?" So at least, there's now some resources, some support.
Eli: The major thing with the Childhood Dementia Initiative in that particular letter for me is, there's still fun. Hannah is my little rainbow girl. She is still the happiest person I know. She still gives you cuddles that will crack ribs. She still, still watch out when she's got her wheelchair on speed five, you'll break an ankle all of that sort of stuff. She's still amazingly, Hannah. That diagnosis pretty much stopped us for a little while. And then, it's been a lot of time for me to realise that life doesn't stop. You've still got to get up in the morning and go to work. You've still got to mark papers, teacher. You've still got to find the fun.
Rachel: Hannah is always the happy go lucky Hannah. That's, yes, she's aware of the fact that she's losing skills and abilities, but she's not, the impact is on her, her brother. That he is the one that sees, on a daily basis, you know, his big sister. He's, I mean if I'm, if Eli and I are not looking at or looking after Hannah, it's Benjamin that's with her because she can't be left unsupervised. So, he's you know, her pretty much her primary carer because it's also Benjamin that she always goes to and wants to be with.
Eli: "Well, what's a good bit about having Hannah as your sister?"
Benjamin: "Every time she builds Lego, she just makes good stuff."
Eli: "Cool."
Benjamin: "And it just surprises me what she's going to build next."
Rachel: He's, you know, the outdoor adventure, have, you know, he was always the, the, the um, out there doing everything and just watching his change and withdrawal and the physical because he carries his anxiety and, and trauma into in physical symptoms. So, the constant feeling sick.
Eli: Sore tummy.
Rachel: You know, sore tummies. Like, the change in him from his sister's diagnosis.
Benjamin: "I remember I hated you for telling me."
[Children chattering]
Eli: You know, because everyone always says to me, oh you know, "How's Hannah?" "Oh, she's fine."
Eli: Benji.
Rachel: It's Benji, that's the challenge
Eli: And he's dealing with a lot of the bigger picture questions that we don't, shouldn't be dealing with until we're adults.
Jim: Yeah.
Eli: He's dealing, you know, we're walking into the house not long ago and he said, "Dad, what happens when you die?" And we don't... We don't shy away from those conversations. But it's hard to not, it's hard to not try to soften that particular blow as a parent.
Jim: Because that's the job, right? You're always trying to soften - (Mm.) everything.
Eli: Yeah. But I mean, it's also, it's not going to be a fun day when things finally do happen. But if I can prepare Benji, a bit for it, I'm going to do that.
Jim: I know you wear a bracelet that, you know, normally you wouldn't even really notice, but it has some special meaning to you. Tell us a little bit about the bracelet?
Rachel: So, we finally had a night out a little while ago, and, so got to get dressed up and wear, wear my good jewellery. So, there's a family bracelet, sort of passed down, I think on the seventh generation, - (Wow.) to receive it, for our 40th birthdays. So, sort of, that was more recently it's been passed, it was on our 40th birthdays.
Jim: There's so much sentiment as well when it's passed down like that because...
Rachel: Yeah, and then suddenly I'm like, taking it off after having been out to dinner. Probably, the one too many wines, which is why I was feeling emotional going, "Oh God! What am I going to do with this?" Like, "I'm not going to able to give this to Hannah." Like, and it's just those triggers of those moments of grief. I know I'm slightly irreverent sometimes when I'm talking about some of this childhood dementia stuff, because it's like the, the line between the tears and the...
Eli: You've got to laugh.
Rachel: ... and the laughter, it's just so paper thin.
Eli: You've got to laugh.
Rachel: But, if you don't try and see the joy, then your life would, then I'd be consumed by the grief. And I can't...
Jim: Let that consume you.
Rachel: I can't do that. I can't let that happen. I mean, I can't do that for Benjamin. I can't do that for Hannah. I can't do that for my own mental health, so.
Jim: It must be such a rollercoaster of emotion. especially with him to consider because you've still got to have the ups and try and make fun out of life, haven't you, for the family?
Eli: You get those little things, um. I was driving to work not last week, the week before. And that little thought popped into my head was, I'm not going to get the chance to give Hannah away at her wedding. And, I got to work and my hands were aching and, and I looked down at my fingertips and I've got the impression of the, excuse me, the impression of the stitching from the steering wheel in the back of my hands because I had crunched onto the wheel, steering wheel (-So hard.) that tight. Um. I'm not going to watch Hannah graduate from university. You talked about a, a rollercoaster of emotion that first you go through the whole grief process in, in the drive to work and it's, "Oh yeah, no, I won't." "God, I'm pissed off about that." - (Mm.) And then, and then, my mental health has been a bloody rollercoaster and then depressed, and then anxious. And then try, "I've got to get control of this because I've got to get back into it." Put myself in the head space for school and all that sort of stuff. And it's just dealing with that, and there always little thoughts...
Jim: That pop in.
Eli: That just that just go, [Popping Noise] "Hello, I'm here to make your bad day." You know, that sort of stuff, so.
Rachel: I guess it's just the dual, the dual reality of pretty much every moment of joy is also a tinge with a moment of sadness. Just that question of, "Well, we'll be, will we be able to do this again?" I mean...
Jim: You know, the unknown of how soon, how long, what's ahead.
Rachel: And that's the challenge.
Jim: It's, it's living every single day with trying to compartmentalise that.
Eli: You, you have to find those hilarious moments. Benji's really good at it. Benji is brilliant at it. You, you have to have those moments (-To lift you.) where, where you come home and, and the kids at school have been absolute monsters and the drive home has been hellish. And Hannah gives you one of those hugs and it's like, "Go for it honey, break as many ribs as you feel like." And she just wraps you up. Yeah, that's, that's, those moments are what keep me going.
Hamish: So, I guess hope is not an idea that we generally tend to associate with dementia, but I know for you that's been a very important concept. You know, you're talking about finding the light, but I'm interested in the idea of hope and some of the resources you've worked on with the CDI, I know, focus on that. What does it mean for your family? How do you find hope in, in all of this? Because I guess you're describing light moments tinged with sadness. Where does hope fit?
Eli: It wasn't there for a long time. I can't speak for Rachel, but for me, there was no hope for a little while. The path we're on. You know what the outcome's going to be. So, the hope is finding those moments that when things do happen and things get very bleak, they're the little candle in the darkness. And hope is looking for them because they're not going to show up if you don't look for them. So that's what hope is for me.
Rachel: I think I've probably used the word joy more than hope that you just live life to the full, live in this moment. Enjoy this moment. - ("Yeah.")
[Girl giggling]
Rachel: I know, people always make the cliche to me, "Oh you're making such good memories with that." And I'm like, "Stop saying to me about the fact I'm making memories." Because that idea of making memories is actually denying there is hope, but for me, hope is actually about creating, creating a path forward and strength, giving strength to other people that may also find themselves on this path. Like, so that there is hope. There is hope for advocacy, there's hope in, there's hope in research. Not, I'm not saying that it's going to be finding a cure, but at least finding, well I suppose it's finding hope.
Eli: So, hope is, I hope I'm going to be able to do this. I hope I can step up, not just, not just as, not just as Hannah's parent, but as dad. As a bloke. I hope I'm going to have the strength to do this. And I haven't been wrong so far. I hope my strength lasts.
[Music]
Hamish: Childhood dementia initiative that you've been hearing about, has been a really important source of support and community for both Rachel and Eli and their whole family, in fact. And that's in large part because it was founded by a parent who's been experiencing this herself.
Jim: Megan Maack founded the Childhood Dementia Initiative and serves as CEO and Director. Her two children are living with dementia.
Hamish: I want to do some definition work, if we can, because it's so complex and I think for most people listening, this probably might be the first time they've ever heard of childhood dementia. When you're explaining it to someone for the first time, how do you describe it?
Megan: Probably the easiest way to describe it, is progressive brain damage. The, I guess the process of decline that we see in the brains of children who have a dementia condition are very similar to what we know happens in an adult brain. The big difference really is that these are conditions that are caused by a genetic inheritance rather than an environmental impact or cause of dementia. It is, for all intents and purposes the same cognitive decline that we see in adults.
Hamish: And there's lots of different labels, individual labels, that might be applied, right? Within that umbrella term
Megan: Yeah, like adult dementia. There are 140 plus different conditions that cause dementia in childhood. And one of the reasons most people don't know about childhood dementia is that historically, we've been looking at the individual conditions as individual rare disorders, rather than looking at the collective group of childhood dementias in the same way that we do with adult dementia. And so, the work that we're doing is about bringing together under the umbrella of childhood dementia, all of these disparate conditions in order that we can understand the experience of families, what they need, what needs to happen, in order to improve outcomes for the child who has dementia, but for the entire family unit.
Jim: So, what are the main differences for children living with dementia versus adults?
Megan: Probably the biggest thing is the inheritance. So, it is genetically inherited. And what that means is, often a family are at risk of having a child with one of these conditions. They have that child, because it doesn't present in the, in the very early days, they'll often go on to have more children. And I'm an example of that. I have two children with a dementia disorder. The other thing that is quite unique in terms of the experience of a family with a child with dementia is that this has occurred to a family in the prime of their life. You know, parents who are either early or mid in their careers. And the impact on them from a psychological perspective, from a financial perspective, from a career, like every aspect of family dynamic is impacted. And it is quite a different set of family dynamics than you would expect in your typical presentation in an older person. Which of course, you know, I know that it occurs right down into the thirties and forties as well. But, I think that's probably the biggest thing that sets the childhood dementia family experience aside, is that it is a very different stage of life.
Jim: Yeah, because you're in that go fast stage when everything's going on in the family. It must be unbelievable to handle all of that.
Megan: Yeah, and it's a shock. I mean, most families aren't aware that they have this genetic risk when they, when they have their child.
Hamish: How common or how rare is this?
Rachel: Yeah, about one in 2,900 babies are born with a condition that will lead to dementia in childhood. So, in Australia, that's one baby born every three days, so, um.
Jim: That's a lot.
Megan: It, it is a lot. Yeah, I mean it's still considered rare, however, it's far more common than the individual conditions themselves. And it's about as common as cystic fibrosis. Unfortunately, because we have been looking at these conditions as individual rare conditions, we've never really understood the impact or the needs. And people have really found themselves lost in rare disease silos. And so that's the work that we are doing now, is really trying to articulate the experience and articulate the needs of families in order that we can do better.
Hamish: You're describing a fragmented picture where families might not even see themselves as part of a bigger cohort of people.
Megan: Yes, exactly. I mean, one of the, one of the biggest things we've had to do over the last five years since we began the Childhood Dementia Initiative, is raise awareness. And that awareness is not just across public or across the health professionals who are working with these families, but it's actually amongst the families themselves. You know, some of the families have been living with a child or children with one of these conditions for years, might not necessarily, recognise it as dementia. Because we haven't been using that language in the mainstream. We haven't been using that language in the clinic. We've been talking about these conditions as childhood dementia disorders in academic literature, but we haven't been using that language functionally. You know, these conditions aren't new. A lot of them have been described for, you know, some of them hundreds of years. They're not new conditions. But, we haven't seen progress on any of them because they've all been looked at in this fragmented way.
Hamish: You describe your own process towards diagnosis as an 'odyssey.' (- Mm.) - Why?
Megan: Oh, diagnostic odyssey is language a lot of families use. Our experience was about two years, which is, on around average. It, it could have been a lot longer, had I not really pushed and pushed and pushed knowing that something wasn't quite right. But some families go even longer than that. Five years plus, trying to find what's going on with their child. And most families report, the first diagnosis they receive is typically "worried mother" syndrome. Um, and I was certainly, you know, in that category where I would go to the doctor and walk away feeling like a completely neurotic mother that was just really, you know, worried about my child's development. And I, and you know, I think that in those early days when a child has begun on a, on a typical developmental trajectory and you're starting to then see the slowing of development as a mother, you often know something's not right. But, you know, you're still fitting on the bell curves and you're still not ringing any alarm bells within the health system as you see things starting to slow. And so, a lot of families do have to go and, you know, do 15, 20, 30 different appointments before they'll hit on somebody who kind of recognises something might be going on with this child or has seen one of these conditions before and knows to order the correct test. Interestingly, most of these conditions, if they know what they're looking for, are reasonably easy to diagnose. But you have to know what you're looking for.
Jim: If a child is diagnosed today, childhood dementia initiative might be their first port of call. What do you do after your family has received that diagnosis? Where'd you go?
Megan: Yeah, I mean, the challenge is there is very little available for these families. At the moment, families are most often told, "I'm really sorry you have a diagnosis of this condition. Go home and make lovely memories." You know, there's nothing you can do. And I heard that 12 years ago when my kids were diagnosed. And I believe families are still hearing that today. And it's just not good enough. (-No.) Like, we really need to ramp up research. We need to ramp up specialist services. We need to have supports that are in place to take care of not only the child, but the whole family unit. I mean, the majority of the families that we talk to are never even offered psychological support or counselling. So, there's this incredible gap in terms of what families need and what's available for them on offer.
Hamish: When you say 'That sort of message is not good enough', as a parent, how do you even interpret that? How do you receive that?
Megan: Personally, 12 years ago I really refused to believe that. And my initial response was to pull my grief into trying to find therapeutics and move science forward for the particular condition that my children have, which was a condition called Sanfilippo syndrome. And I actually started a different organisation first that was looking at funding research into their condition. And over the years that I ran that organisation about seven or eight years, we had a relatively good amount of success in terms of investing in research. We invested about $8 million into research, 45 different projects. And we, we had a, a gene therapy clinical trial that is showing some quite good results in very young children. So, was really struck by, you know, that, that, that we were able to, to invest and put the energy and effort into this tiny, narrow, incredibly rare disease. But, it was very inefficient because I could see all of these other conditions that weren't getting the same attention from a research investment perspective. And I had begun to really get to know other families who had these other conditions and realise that they were also battling all of the same things I was from a, from a care perspective. And that's where the idea for the collective came from is, is, is there a better, more efficient way for us to be researching these conditions? Is there a better, more efficient way for us to be understanding the needs and caring for children who are impacted by dementia? So, five years ago we did a, a study with some health economists and academics to understand if we were to pull these conditions together, what would be the statistics? And that's where we got the data that we've based the work that we're doing at childhood dementia on and over the last five years, we've been able to really build a robust set of evidence around the problem. And, and what needs to happen here in Australia and internationally, in terms of addressing it.
Jim: What sort of specialist support do kids diagnosed with dementia require?
Megan: I guess similar specialised supports to adults with dementia. One of the challenges that we've uncovered is when you look at allied health speech therapy, physiotherapy, occupational therapy, or behavioural therapy, the, the approach that's taken in the paediatric space is typically based on either static intellectual disability or autism because that's what's known in the paediatric space. There aren't any specialist protocols for children with dementia. And so, we're encouraging the allied health field to really look at the adult space and understand the protocols and the interventions that are used from an allied health perspective and begin to adapt those to children. So, things like, reminiscence therapy, there's an emerging school of thought around what, what is sometimes referred to as 'hot housing' or 'accelerated learning.' So, getting children who are diagnosed with one of these dementia conditions to really focus on building their skills as quickly as they can. So, they've got a higher baseline to come down from.
Jim: Yeah, so it's sort of indented into them.
Megan: Yes, exactly, yeah.
Hamish: And do children with this diagnosis remain in mainstream schooling? What happens?
Megan: Sometimes they do. Education is an area that we've really begun to look at. A lot of children end up in the special education system. My kids are in a special education intellectual disability school. A lot of children end up being homeschooled because there isn't an appropriate education environment for them. So, education is a really important area for us. It's a whole other system that isn't, you know, of consideration when you think about dementia in an adult.
Hamish: I wonder if you could describe this for us because I, I've read these characterisations of kids that are effectively teenagers. They're physically teenagers. (- Yeah.) But then, they are essentially regressing to someone that is behaving like a toddler.
Megan: Mm. That is actually spot on. So, my daughter is 16, she'll be 17 in April next year. She was diagnosed when she was four. And she could, um, she had about 300 words. She could dress herself. She was toilet trained. She was learning to read. She, we knew who she was. We saw her personality. She was funny and made a lot of jokes and, you know, had a great eye for fashion. And we knew who this person was. She is now 16, her body still works, so she can still walk. She is starting to slow down. Her feeding, she's now on a soft-food diet because she, she has dysphasia. She has quite significant scoliosis. So, she's starting to slow down and we're seeing quite a significant decline in her. But she can still walk. And this is a really big problem for us because cognitively she's probably, six months. And, and the regression isn't linear. So, when she was losing her kind of cognitive understanding of the world around her, she wasn't losing the physical skills. So, if you can imagine a baby being interested in chewing on these glasses, she would just pick up those glasses and chew them. So, keeping her safe, either in the home or at school or in any part of the community, is a really big challenge for us. And this is something that we hear from a lot of families. You know, the, the, the amount of support and, um, care that is required, one-to-one, 24/7. Sometimes, two-to-one (-Immense) just to keep them safe.
Hamish: Well what about, what about family? Is it sometimes dangerous for family members?
Megan: Well, it can be, I mean, at the moment, there's probably nobody within our, in our family, outside of the paired carers who could actually care for my daughter. Her needs are so complex and keep her safe and, and, and yeah, so she can hit, she can bite. Oh my gosh! You don't want to put your finger anywhere near her mouth. You know, and not because she's aggressive or, or wants to hurt you at all, but because that's a natural reflex that you think a six-month old, if you put something in front of a six-month old's mouth, they're going to open it and bite it. I often describe it as, I've had a, I've had a newborn for, like... (- Forever. Yeah.) for 16 years. They're still in nappies, you know, they never got out of nappies and...
Jim: That's unbelievable.
Megan: And, and they still wake up through the night like a, like a newborn does. You know, it's, it's the enduring nature of the condition on the entire family unit is hugely significant. And we see, you know, I think one in three of our families have to give up work entirely to care for their child. We see a lot of family breakdown, we see a lot of health conditions occurring, particularly in our mothers who are often the ones who are carrying the, the greatest load of care when it comes to these children. So, I think, you know, it's, it's almost never-ending that the impacts that, that once we've started to uncover the evidence that we're finding.
Jim: Because most parents, they can't wait to get past that phase, you know, when it's so emotionally draining. But from an emotional level, how are you? How are you coping with this?
Megan: The line that springs to mind as you said that, and I used to say this all the time when my babies were babies and I thought they were healthy babies, was, "This too shall pass." (-Yeah.) You know, and you'd be up in the night, you, "Okay, this too shall pass." "They're going to sleep through the night." This too shall pass, is getting a bit tired after 16 years. Um, it's, I don't actually language to describe the rollercoaster, the devastation. And I see it on the family's faces who we deal with. And I, and I feel for every single one of them and the new diagnoses that come through, knowing what's ahead for them, it is an incredibly difficult thing to manage. Yeah.
Hamish: Is hope a word that you hold?
Megan: Absolutely, absolutely. Hope is at the centre of everything. And when we use the word hope, it doesn't need to be 'hope for a miracle, hope for a cure.'
Jim: Or a magic wand.
Megan: A magic wand. Hope is often, that I will, get moments of joy with my children. Or, that my community around me will understand and love them like I do. Or, that because they've been through this and the experience that we've had and been able to share and bring this community together, that it will be better for future families. Hope that we're going to see changes to the health system that mean families are adequately supported. That we're going to see improvements in research coming through so that there will be treatments for children in the future. You know, there's a significant amount of hope. It's the thing that keeps all of us going. But it's, a unique hope, and it's for every single one of us, I think it means something different.
Jim: That's Meg Maack, the CEO and Director of Childhood Dementia Initiative.
Hamish: And before that, you heard from Rachel Anderson and Eli Marshall, who are caring for their daughter, Hannah.
Jim: Hold the Moment is a podcast from Dementia Australia produced by Deadset Studios.
Hamish: You can find more episodes and resources on Dementia Australia's website, dementia.org.au And make sure you're following Hold the Moment so you don't miss an episode.
Jim: This show is hosted by me, Jim Rogers.
Hamish: And by me, Hamish Macdonald. The executive producers are Kellie Riordan and Sarah Dabro. The producer is Liam Riordan. Production Manager is Ann Chesterman. Sound design by Slade Gibson.
Jim: And a special thanks to the whole team at Dementia Australia and to everyone who shared their stories on this podcast.
[Music]
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About the episode
Dementia doesn't only affect the elderly. Childhood dementia is an umbrella term for more than 100 rare genetic disorders and one in every 2,900 babies is born with one.
There is currently no cure.
For parents Rachel and Eli, awareness and research funding are the lifeline. Megan Maack, founder of the Childhood Dementia Initiative and a parent herself, is working to connect families, improve healthcare, and push for the research that could one day change everything.
This episode is about grief, love, and refusing to give up.
Resources and support
Within the Dementia Australia Library the following topic guides is relevant to this episode and may be useful:
National Dementia Helpline 1800 100 500. You can call 24 hours a day, or request a callback, start a webchat, or send an email with whatever is on your mind.
Dementia information and education sessions
Online and in-person sessions from Dementia Australia that build understanding of dementia and provide practical strategies for support and care.
Advocacy and support to raise awareness and improve research, care and outcomes for children living with dementia.
Watch the interview
In this video, we go one on one with our podcast guests.
Transcript
[BEGINNING OF RECORDED MATERIAL]
Eli: Hannah is my little rainbow girl. She is still the happiest person I know. She still gives you cuddles that will crack ribs.
Rachel: People always make the cliche to me, "Oh, you're making such good memories with her." And I'm like, "Stop saying that to me about the fact I'm making memories." Because that idea of making memories is actually denying there is hope.
Eli: So, the hope is finding those moments that when things do happen and things get very bleak, they're the little candle in the darkness.
Hamish: Rachel, Eli, thanks for talking to us. Can you just start by telling us a little bit about Hannah? And when you first noticed that something wasn't quite right?
Rachel: Hannah started pre-school or school and pre-school as very, a very, very bright, independent child. And then when she was into kindergarten, she actually won, like, the public speaking competition for their year group. And then, about halfway through the year, I was like, "Hmm, things are starting to not seem quite right." So, we started off, you know, with a speech therapist, because the other children in her year, you know, were taking off and she was sort of plateauing. And then, you know, so then we started off with an autism diagnosis, and then that then turned into an intellectual disability diagnosis but yet, things didn't still seem to be right. And then the floodgates opened. So then suddenly, the other therapists and other people that were already our lives started commenting that things didn't quite seem to be right and what was the final, or the trigger to get towards the diagnosis, was that Hannah had started having seizures. So had an MRI. So, this is when she was just, had just turned 10, like it was her birth, it was her 13th birthday on Friday. So, it was literally exactly this time of the year. October, she had the seizures, and then, so then the MRI and that's when they saw the brain atrophy and 10-year-old children do not have brain atrophy. So, then that was then the path. The path to genetic testing and then finally the diagnosis of childhood dementia.
Hamish: Before we move on, in those early stages before you knew what was going on, what justifications or explanations were you giving yourself for the subtle differences that you were seeing in Hannah?
Eli: I was looking at Hannah going, "No." Almost in denial. "No, there's nothing wrong here, it's just she's just one of those weird kids you encounter every once in a while." The clincher for me was the MRI that Rachel mentioned after the seizures. I was in the MRI room with Hannah, and I did the normal things you do when you go into near a magnet that size, took my keys out of my pockets, not on my phone, on the bench and all that sort of stuff, but I'd forgotten I'd left my steel cap boots on. So, after about 45 minutes of MRI, we walk out and for me, looking at the, I'm not a neurologist, I'm not a medical practitioner, but I know what a normal MRI looks like and it was, and it's like, "Well shit! This is the path we're on."
Hamish: You mentioned that Hannah had done very well early on.
Eli: Oh yeah, she was, we're, we're, both...
Jim: Clever.
Rachel: No, it's not so much that, like we value education as teachers.
Jim: Absolutely.
Rachel: And so, she had been bought up in a very, you know, rich environment where she'd been read to, she'd been encouraged to learn. You know, we'd, I'd take her grocery shopping. We'd be having conversations about what fruit and vegetables we were going to buy. I mean, just a norm, well, what I would consider a normal, you know, preschool education of bringing up a, bringing up a child, and that's why, Hannah was later in being diagnosed because I think we'd managed to enrich, enrich her as a younger child. Because the type of dementia Hannah has, generally the children, well, this is only 17 recorded worldwide in the literature and all of those 17, they were all diagnosed as toddlers, very early children. I mean we are talking about childhood dementia here and apart from one, they all had died by the time they were 10. Hannah was diagnosed at 10 and I think the fact that we'd managed to enrich her education and support her and work through with therapy and other bits and pieces, we'd sort of, in some ways masked the symptoms until you just couldn't mask it anymore. And my number one message to all mothers, whether it's talking about childhood dementia or anything else is, trust your intuition. There's, if you think there's something, then follow through but unfortunately, when you’re up against "professionals" that, "Well, what would you know? Well, I do know, I'm the child's mother, I know." Anyway, so...
Eli: Yeah, there's something going on here, but we're not sure what it is. I mean, when we had the original autism and intellectual disability notice, one of the good, slash, bad things, was everybody's got a phone these days that's got a selfie camera. So, you do selfies and videos with the kids and I've got tonnes of them, with the kids are eating my phone, and that sort of stuff and I look back on the videos I used to shoot with Hannah when she was four or five, that sort of stuff, and I go, "Oh."
Jim: Can you see those signs now?
Eli: You can and they're so expletingly obvious and you look back and you go, "How the... did I miss that?" I'm an educational professional for God's sake, I should be picking this up and I didn't, but then you don't.
Hamish: What was it that you see when you look back at those videos?
Eli: A lot of repetitive behaviours which is more autism than anything else. We did things like; we read to Hannah every night. We made sure, we watched, sat down and watched videos with all of these sort of things, not because we're teachers and that's what you should be doing, but because we seriously invested in our kid’s intellectual development, and everyone says do your Sudoku's and those sorts of things to stave off Alzheimer's and that sort of stuff, and I think that's what we did. Inadvertently, was mask it because we saw Hannah went into school and with being able to read and things like that.
Jim: So, she was really ahead of the game.
Eli: She was, she was ...
Jim: Because of your input.
Eli: Yeah, she was ahead of the game, and then, everybody else went as, as kids do when they hit school, they start to take off and she just sort of plateaued.
Rachel: And then started to decline.
Eli: Yeah.
Jim: I can't imagine how hard this has been for you guys like to handle, I mean once Hannah was diagnosed with childhood dementia, which is just, it's just unbelievable. It's the last thing you ever want to hear. What was your initial reaction? How did you get your head around that?
Eli: Well, that was interesting. We were having a conversation with Owen. The paediatrician was like, "Right, let's see if we can't figure out what's the cause for this." So, myself, Rachel, and Hannah all had bloods taken and they were sent off to Finland for genetic testing because that's where it's done and then we had a big meeting with the geneticist and the paediatrician and Rachel and I, and they said, "Right, Hannah has UBTF neurodegenerative disorder." And both Rachel and I went, "Yep, cool, thanks, that's brilliant, no problems."
Rachel: Now what?
Eli: Because we didn't have a clue what this was and, and you know, Rachel's a brilliant PhD researcher and I sort of faked my way through mine, but we can research. So, we went and did a bit of a literature review and after we had a read of what this pathway is, it's like, "Oh, my God, crap."
Hamish: So, it was not put to you as childhood dementia initially?
Rachel: No. It was literally; this is the genetic abnormality.
Hamish: So how did you come to the realisation that it falls into that category?
Rachel: That was our amazing GP to be honest. I know Eli had seen the MRIs and he had his opinion, but I didn't actually. I hadn't seen those and so, I turned up to, I could tell you it was, it was Thursday 17th of December, because school was, the school break broke up the next day. And I was thought I was turning up just to get some blood test results and the things back to take back to the specialist from our GP and he was like, "Oh, brain atrophy." Talking about all these things that were going on, and I didn't, I walked out of there going, "What the hell?" Like, I didn't, I was completely blindsided because our GP had thought the specialist had contacted us and like the neurologist had contacted us and hadn't. What was, you know, a 10-minute consultation to collect results, was an hour of "Oh wow! Okay." And I do feel so sorry for him because he was, he didn't know that I didn't know. And so, then turning up to school the next day, it was our, it was the very final day of term. It was the whole school pool party and thankfully none of the children in front of me actually did anything stupid, because I was there in body, but...
Jim: Not in mind.
Rachel: Not in mind. I couldn't even speak that day. But I mean, of course, I had to turn up because that's the expectation of you know, and that's when you realise, you know, just thinking about all these things, realising that. And it was that Christmas then I just couldn't function without thinking about Hannah dying and all the end-of-life things, because that was sort of, I mean, I've now understood that's part of that trauma and grief and shock but no one had actually spoken to me about any of that and so, just that whole like, yeah, I'm like, my, my world was…
Jim: Smashed.
Rachel: Absolutely smashed. I mean Hannah was, I mean I know, I know children are absolute gifts, but Hannah had been very hard to come by. I mean we'd had multiple miscarriages and things before she was born so I mean she was an absolute precious gift and then to be told that she's being taken away from me again, I mean, yeah, I was, it was devastating. We've then been doing a little work with the childhood dementia initiative because at the time there was no support anywhere, I rang. You know, you go, "Okay, so it's childhood dementia. Oh, Google, okay, where can I get support?" Nowhere, because all the dementia support are for, you know, older, well I wouldn't sort say it, I mean I know there's young onset...
Hamish: Oh, yeah, yeah, you can call Jim, old.
Jim: Oh, yeah, he’s always going to stick a knife in.
Rachel: But it's adult, adult onset. It's not...
Eli: Yeah.
Rachel: … children, and so there was just nowhere to get any help, any information, any support and then finally, I mean I did make contact with the Charter of Dementia Initiative and now we've worked really closely to start to pull, to make resources. So, one of the things we've made is what we call the 'Finding Hope Letter', which is for families that were in that position of going, "We've just had this information. We've just had this diagnosis, now what?" So at least there's now some resources, some support.
Eli: The major thing with the Childhood Dementia Initiative in that particular letter for me is, there's still fun. Hannah is my little rainbow girl. She is still the happiest person I know. She still gives you cuddles that will crack ribs. She still, watch out when she's got her wheelchair on speed five, you'll break an ankle. All of that sort of stuff. She's still amazingly, Hannah. That diagnosis pretty much stopped us for a little while.
Hamish: Yeah.
Eli: And then, it's been a lot of time for me to realise that life doesn't stop. You've still got to get up in the morning and go to work. You've still got to mark papers, teacher. You've still got to find the fun.
Rachel: Hannah is always the happy go lucky Hannah. That's, yes, she's aware of the fact that she's losing skills and abilities, but the impact is on her brother, that he is the one that sees, on a daily basis, you know, his big sister. He's, I mean if I'm, if Eli and I are not looking at or looking after Hannah, it's Benjamin that's with her because she can't be left unsupervised. So, he's, you know, her pretty much her primary carer because it's also Benjamin that she always goes to and wants to be with. He's, you know, the outdoor adventure, you know, he was always the out there doing everything and just watching his change and withdrawal and the physical because he carries his anxiety and trauma into in physical symptoms. So, the constant feeling sick.
Eli: Sore tummy.
Rachel: Yeah, sore tummies. Like the change in him from his sister's diagnosis. So, it's not about, you know, because everyone always says this me, oh, you know, "How's Hannah? Oh, she's fine."
Eli: Benji.
Rachel: It's Benji, that's the challenge.
Eli: And he's dealing with a lot of the bigger picture questions that we don't, shouldn't be dealing with until we're adults.
Jim: Yeah.
Eli: He's dealing, you know, we're walking into the house not long ago and he said, "Dad, what happens when you die?" And we don't... we don't shy away from those conversations but it's hard to not, it's hard to not try to soften that particular blow as a parent.
Jim: Because that's the job, right? You're always trying to soften everything.
Eli: Yeah, but I mean it's also, it's not going to be a fun day when things finally do happen but if I can prepare Benji a bit for it, I'm going to do that.
Jim: I know you wear a bracelet that, you know, normally you wouldn't even really notice, but it has some special meaning to you. Tell us a little bit about the bracelet.
Rachel: We finally had a night out a little while ago and so got to get dressed up and wear, wear my good jewellery. So, there's a family bracelet, sort of passed down I think on the seventh generation…
Jim: Wow!
Rachel: … to receive it for our 40th birthdays. So, sort of, that was more recently it's been passed, it was on our 40th birthdays.
Jim: There's so much sentiment as well when it's passed down.
Rachel: Yeah, and then suddenly I'm like taking it off after having been out to dinner. Probably the one too many wines, which is why I was feeling emotional going, "Oh God, what am I going to do with this?" Like, I'm not going to be able to give this to Hannah. Like, and it's just those triggers of those moments of…
Jim: Pin drop moments.
Rachel: Those moments of grief or when you suddenly, I mean you try, you try your best just to leave it out because I mean, and I know I'm slightly irreverent sometimes when I'm talking about some of these childhood dementia stuff because it's like the line between the tears and the…
Eli: You've gotta laugh.
Rachel: … and the laughter is just so paper thin.
Eli: You've got to laugh.
Rachel: That if you don't try and see the joy, then your life would, then I'd be consumed by the grief and I can't, I can't do that. I can't let that happen. I mean, I can't do that for Benjamin, I can't do that for Hannah. I can't do that for my own mental health.
Jim: But it must be such a rollercoaster of emotion, especially with him to consider, because you've still got to have the ups and try and make fun out of life, haven't you, for the family?
Rachel: Absolutely.
Eli: You get those little things. I was driving to work, not last week, the week before and that little thought popped into my head was, I'm not going to get the chance to give Hannah away at her wedding and I got to work and my hands were aching and I looked down at my fingertips and I've got the impression of the, excuse me, the impression of the stitching from the steering wheel in the back of my hands because I had crunched onto the wheel, steering wheel.
Jim: That tight.
Eli: I'm not going to watch Hannah graduate from university, and you talked about a rollercoaster of emotion that first you go through the whole grief process in the drive to work and it's, "Oh yeah, no, I won't. God, I'm pissed off about that." And then, and then my mental health has been a bloody rollercoaster and then depressed, and then anxious, and then try, I've got to get control of this because I've got to get back into it, put myself in the head space for school and all that sort of stuff, and it's just, dealing with that, and they're always little thoughts...
Jim: That pop in.
Eli: That just that just go, [Popping Noise] "Hello, I'm here to make your bad day." You know, that sort of stuff, so.
Rachel: I guess it's just the dual, the dual reality of pretty much every moment of joy is also a tinge of a moment of sadness. Just that question of, "Well, we'll be, will we be able to do this again?"
Jim: You know, the unknown of how soon, how long, what's ahead.
Rachel: And that's the challenge.
Eli: Yes.
Jim: It's living every single day with trying to compartmentalise that.
Eli: You have to find those hilarious moments. Benji's really good at it, you have to have those moments.
Jim: To lift you.
Eli: Where you come home and the kids at school have been absolute monsters and the drive home has been hellish and Hannah gives you one of those hugs and it's like, “Go for it honey, break as many ribs as you feel like,” and she just wraps you up. Those moments are what keep me going.
Hamish: So, I guess hope is not an idea we generally tend to associate with dementia, but I know for you that's been a very important concept. You know, you're talking about finding the light, but I'm interested in the idea of hope and some of the resources you've worked on with the CDI, I know, focus on that. What does it mean for your family? How do you find hope in all of this? Because I guess you are describing light moments tinged with sadness. Where does hope fit?
Eli: It wasn't there for a long time. I can't speak for Rachel, but for me, there was no hope for a little while. The path we're on, you know what the outcome's going to be. So, the hope is finding those moments that when things do happen and things get very bleak, they're the little candle in the darkness and hope is looking for them, because they're not going to show up if you don't look for them. So that's what hope is for me.
Rachel: For me personally, it's about the joy. I think I've probably used the word joy more than hope that you just live life to the full, live in this moment. Enjoy this moment and I know it, people always make the cliche to me, "Oh, you are making such good memories with that." I'm like, "Stop saying to me about the fact I'm making memories." Because that idea of making memories is actually denying there is hope. But for me, hope is actually about creating, creating a path forward and strength, giving strength to other people that may also find themselves on this path, like, so that there is hope. There is hope for advocacy, there's hope in, there's hope in research. Not, I'm not saying that it's going to be finding a cure but at least finding, well I suppose it's finding hope.
Eli: So, hope is, I hope I'm going to be able to do this. I hope I can step up, not just, not just as, not just as Hannah's parent, but as dad. As a bloke. I hope I'm going to have the strength to do this, and I haven't been wrong so far. I hope my strength lasts.
Hamish: Rachel, Eli, I'm sure everyone listening to this will want to say thank you for sharing your story and I think everyone will also want to wish you well.
Jim: Thank you both so much.
Eli: We'll have to do this again sometime.
Jim: Hold the moment is a podcast from Dementia Australia produced by Deadset Studios.
[Title Card:
To listen to the full podcast episode visit:
Dementia.org.au/podcast
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End of Title Card]
[END OF RECORDED MATERIAL]
Transcript
[BEGINNING OF TRANSCRIPT]
Megan: Hope, is at the center of everything and when we use the word 'hope,' it doesn't need to be hope for a miracle. Hope is, I will get moments of joy with my children or, that my community around me will understand and love them like I do. It's the thing that keeps all of us going.
[Music]
Jim: Megan Maack founded the Childhood Dementia Initiative. Her two children are living with dementia.
Hamish: And are we calling you Megan or Meg?
Megan: Meg. - Meg, Okay. - Yeah, we like Meg.
Hamish: So, I want to do some definition work, if we can, because it's so complex. - (Mm.) And I think for most people listening, it's probably might be the first time they've ever heard of childhood dementia. When you're explaining it to someone for the first time, how do you describe it?
Megan: Probably the easiest way to describe it is, progressive brain damage. The, this process of decline that we see in the brains of children who have a dementia condition, are very similar to what we know happens in an adult brain. The big difference really is that these are conditions that are caused by a genetic inheritance rather than an environmental impact or cause of dementia. It is, it is for all intents and purposes, the same cognitive decline that we see in adults, but... Yeah.
Hamish: And there's lots of different labels, individual labels, that might be applied, right? Within that umbrella term.
Megan: Yeah, like adult dementia, there are 140 plus different conditions that cause dementia in childhood. And, one of the reasons most people don't know about childhood dementia is that historically we've been looking at the individual conditions as individual, rare disorders, rather than looking at the collective group of childhood dementias in the same way that we do with adult dementia. And so, the work that we're doing is about bringing together, under the umbrella of childhood dementia, all of these disparate conditions in order that we can understand the experience of families, what they need, what needs to happen, in order to improve outcomes for the child who has dementia, but for the entire family unit.
Jim: So what are the main differences for children living with dementia versus adults?
Megan: Probably the biggest thing is the inheritance. So, it is genetically inherited. And what that means is often a family are at risk of having a child with one of these conditions. They have that child, because it doesn't present in the, in the very early days, they'll often go on to have more children. And I'm an example of that. I have two children with a dementia disorder. The other thing that is quite unique in terms of the experience of a family with a child with dementia is that this has occurred to a family in the prime of their life. You know, parents who are either early or mid in their careers. And the impact on them from a psychological perspective, from a financial perspective, from a career. Like, every aspect of family dynamic is impacted. And it is quite a different set of family dynamics than you would expect in your typical presentation in, in an older person. Which of course, you know, I know that it occurs right down into the thirties and forties as well. But, I think that's probably the biggest thing that sets the childhood dementia family experience aside, is that it is a very different stage of life.
Jim: Yeah, because you're in that go fast stage when everything's going on in the family. It must be unbelievable to handle all of that.
Megan: Yeah, and it's a shock. I mean, most families aren't aware that they have this genetic risk when they, when they have their child.
Hamish: How common or how rare is this?
Megan: Yeah, about one in 2,900 babies are born with a condition that will lead to dementia in childhood. So, in Australia, that's one baby born every three days, so, um...
Jim: That's a lot.
Megan: It, it is a lot. Yeah. I mean it's still considered rare. However, it's far more common than the individual conditions themselves. And it's about as common as cystic fibrosis. Unfortunately, because we have been looking at these conditions as individual rare conditions, we've never really understood the impact or the needs. And people have really found themselves lost in rare disease silos. And so that's the work that we are doing now, is really trying to articulate the experience and articulate the needs of families in order that, we can do better.
Hamish: You're describing a fragmented picture where families might not even see themselves as part of a bigger cohort of people.
Megan: Yes, exactly. I mean, one of the, one of the biggest things we've had to do over the last five years since we began the childhood dementia initiative is raise awareness. And that awareness is not just across public or across the health professionals who are working with these families, but it's actually amongst the families themselves. You know, some of the families have been living with a, a child or children with one of these conditions for years, might not necessarily recognise it as dementia because we haven't been using that language in the mainstream. We haven't been using that language in the clinic. We've been talking about these conditions as childhood dementia disorders in academic literature. But, we haven't been using that language functionally. You know, these conditions aren't new. A lot of them have been described for, you know, some of them hundreds of years. They're not new conditions. But, we haven't seen progress on any of them because they've all been looked at in this fragmented way.
Hamish: You describe your own process towards diagnosis as an 'odyssey.' Why?
Megan: Oh, diagnostic odyssey is language a lot of families use. Our experience was about two years, which is on, around average. It, it could have been a lot longer, had I not really pushed and pushed and pushed knowing that something wasn't quite right. But some families go even longer than that. Five years plus, trying to find what's going on with their child. And most families report the first diagnosis they receive is typically "worried mother" syndrome. Um, and I was certainly, you know, in that category, where I would go to the doctor and walk away feeling like a completely neurotic mother that was just really, you know, worried about my child's development. And I, and you know, I think that in those early days when a child has begun on a, on a typical developmental trajectory and you're starting to then see the slowing of development as a mother, you often know something's not right. But, you know, you're still fitting on the bell curves and you're still not ringing any alarm bells within the health system as you see things starting to slow. And so, a lot of families do have to go and, you know, do 15, 20, 30 different appointments before they'll hit on somebody who, kind of, recognises something might be going on with this child or has seen one of these conditions before and knows to order the correct test. And interestingly, most of these conditions, if they know what they're looking for, are reasonably easy to diagnose. But, you have to know what you're looking for.
Jim: If a, if a child is diagnosed today, child dementia initiative might be their first port of call, what do you do after your family has received that diagnosis? Where'd you go?
Megan: Yeah, I mean, the challenge is there is very little available for these families. At the moment, families are most often told, "I'm really sorry you have a, a diagnosis of this condition. Go home and make lovely memories." You know, "There's nothing you can do." And I heard that 12 years ago when my kids were diagnosed. And I believe families are still hearing that today. And it's just not good enough. Like, we really need to ramp up research, we need to ramp up specialist services. We need to have supports that are in place to take care of not only the child, but the whole family unit. I mean, the majority of the families that we talk to, are never even offered psychological support or counselling. So, there's this incredible gap in terms of what families need and what's available for them on offer.
Hamish: When you say "That sort of message is not good enough." As a parent, how do you even interpret that? How do you receive that?
Megan: Personally, 12 years ago, I really refused to believe that. And, my initial response was to pour my grief into trying to find therapeutics and move science forward for the particular condition that my children have, which was a condition called 'Sanfilippo syndrome.' And I actually started a different organisation first, that was looking at funding research into their condition. And, over the years that I ran that organisation, about seven or eight years, we had a relatively good amount of success in terms of investing in research. We invested about $8 million into research. 45 different projects. And we, we had a, a gene therapy clinical trial that is showing some quite good results in very young children. So, I was really struck by, you know, that, that, that we were able to, to invest and put the energy and effort into this tiny, narrow, incredibly rare disease. But, it was very inefficient, because I could see all of these other conditions that weren't getting the same attention from a research investment perspective. And, I had begun to really get to know other families who had these other conditions and realised that they were also battling all of the same things I was from a, from a care perspective. And that's where the idea for the collective came from is, is, Is, there a better, more efficient way for us to be researching these conditions? Is there a better, more efficient way for us to be understanding the needs and caring for children who are impacted by dementia? So, five years ago, we did a, a study with some health economists and academics to understand if we were to pull these conditions together, what would be the statistics? And that's where we got the data that we've based the work that we're doing at childhood dementia on. And over the last five years, we've been able to really build a robust set of evidence around the problem and, and what needs to happen here in Australia and internationally in terms of addressing it.
Jim: What sort, what sort of specialist support do kids diagnosed with dementia, require?
Megan: I guess similar specialised supports to adults with, with dementia. One of the challenges that we've uncovered is when you look at allied health speech therapy, physiotherapy, occupational therapy or behavioural therapy, the, the approach that's taken in the paediatric space is typically based on either static intellectual disability or autism, because that's what's known in the paediatric space. There aren't any specialist protocols for children with dementia. And so, we're encouraging the allied health field to really look at the adult space and understand the protocols and the interventions that are used from an allied health perspective and begin to adapt those to children. So things like, reminiscence therapy, there's an emerging school of thought around what, what is sometimes referred to as 'hot housing' or 'accelerated learning'. So, getting children who are diagnosed with one of these dementia conditions to really focus on building their skills as quickly as they can, so they've got a higher baseline to come down from.
Jim: Yeah, so it's sort of indented into them.
Megan: Yes, exactly.
Hamish: And do children with this diagnosis remain in mainstream schooling? What happens
Megan: Sometimes they do. Education is an area that we've really begun to look at. A lot of children end up in the special education system. My kids are in a special education intellectual disability school. A lot of children end up being homeschooled because there isn't an appropriate education environment for them. So, education is a really important area for us. It's a whole other system that isn't, you know, of consideration when you think about dementia in an adult.
Hamish: I wonder if you could describe this for us because I, I've read, ah, these characterisations of kids that are effectively teenagers, they're physically teenagers. But then, they are essentially regressing to someone that is behaving like a toddler. How would you describe it?
Megan: That is actually spot on. So, my daughter is 16, she'll be 17 in April next year. She was diagnosed when she was four. And she could, um, she had about 300 words. She could dress herself. She was toilet trained. She was learning to read. She, we knew who she was. We, we, we saw her personality. She was funny and made a lot of jokes and, you know, had a great eye for fashion, and we knew who this person was. She is now 16, her body still works, so she can still walk. She's starting to slow down. Her, her, her feeding. She's now on a soft-food diet because she, she has dysphasia. She has quite significant scoliosis. So she's starting to slow down and we're seeing quite a significant decline in her, but she can still walk, and this is a really big problem for us because cognitively, she's probably, six months. And, and the regression isn't linear. So, when she was losing her kind of cognitive understanding of the world around her, she wasn't losing the physical skills. So, if you can imagine a baby being interested in chewing on these glasses, she would just pick up those glasses and chew them. So, keeping her safe, either in the home or at school or in any part of the community, is a really big challenge for us. And this is something that we hear from a lot of families is, you know, the, the, the amount of support and care that is required, one-to-one, 24/7, sometimes two-to-one, just to keep them safe.
Hamish: Well, what what about families?Is it sometimes dangerous for family members?
Megan: Well, it can be, I mean, at the moment, there's probably nobody within our, in our family, outside of the paired carers who could actually care for my daughter. Her needs are so complex and keep her safe and, and, and yeah, so she can hit, she can bite. Oh my gosh! You don't want to put your finger anywhere near her mouth. You know, and not because she's aggressive or, or wants to hurt you at all, but because that's a natural reflex that you think a six-month-old, if you put something in front of a six month old's mouth, they're going to open it and bite it. I often describe it as, I've had a, I've had a newborn for, like...
Jim: Forever.
Megan: for 16 years. They're still in nappies, you know, they never got out of nappies and...
Jim: That's unbelievable.
Megan: And, and they still wake up through the night like a, like a newborn does, you know, it's, it's the, the, the enduring nature of the condition on the entire family unit is, is, is hugely significant. And we see, you know, I think one in three of our families have to give up work entirely to care for their child. We see a lot of family breakdown, we see a lot of health conditions occurring, particularly in our mothers, who are often the ones who are carrying the, the greatest load of care when it comes to these children. So, I think, you know, it's, it's almost never-ending that the impacts that, that once we've started to uncover the evidence that we're finding.
Jim: Cause, mo-most parents, they can't wait to get past that phase, you know, when it's so emotionally draining from an emotional level. How are you? How are you coping with this?
Megan: Oh, oh, the, the, the line that springs to mind as you said that, and I used to say this all the time when my babies were babies, and I thought they were healthy babies, was "This too shall pass." - (Yeah.) You know, and you'd be up in the night and you go, "Okay, this too shall pass." "They're going to sleep through the night." This too shall pass, is getting a bit tired after 16 years. Um, it's, I, I don't actually have language to describe, um the rollercoaster, the, the devastation. And I see it on the family's faces, who we deal with. I, and I feel for every single one of them and the new diagnoses that come through, knowing what's ahead for them. It is an incredibly difficult thing to manage.
Hamish: Is 'hope' a word that you hold?
Megan: Absolutely, absolutely. Hope is at the centre of everything. And, when we use the word hope, it doesn't need to be hope for a 'miracle', hope for a 'cure'.
Jim: Or a magic wand.
Megan: A magic wand. Hope is often, that I will, get moments of joy with my children. Or, that my community around me will understand and love them like I do. Or, that because they've been through this and the experience that we've had and been able to share and bring this community together, that it will be better for future families. Hope that we're going to see changes to the health system that means families are out adequately supported. That we're going to see improvements in research coming through, so that there will be treatments for children in the future. You know, there's a significant amount of hope. It's the thing that keeps all of us going. But it's, a unique hope. And it's for every single one of us, I think it means something different.
Jim: I think that word 'hope' is so important, and from our perspective, we hope to see people doing what you're doing. Advocating to spread awareness for something like this. I think it's incredible what you're achieving and how you're doing it. And I don't know how you help, hold yourself together. Mm. - So I think it's, it's just unbelievable.
Megan: I feel very privileged actually to be able to do something so purposeful, and to know that, and this was the thing I think I felt in the beginning. If this has happened to me and my children, there has to be a, a positive that comes from it. We can't possibly just go through this, and then have families come behind us and go through it again. Like, something has to change.
Jim: You're paving the way.
Megan: I hope so.
Hamish: Meg, thank you very much.
Megan: Thank you.
Jim: Hold the Moment is a podcast from Dementia Australia produced by Deadset Studios.
[Music]
[END OF TRANSCRIPT]
Ask Us Anything
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Episode released Thursday, 6 August.
This episode answers questions about what happens after a diagnosis of childhood dementia and how we can better support the families living with it every day. Megan Maack, the CEO of Childhood Dementia Initiative, offers practical and compassionate strategies.
About the podcast
Hold the Moment is an award-winning podcast from Dementia Australia full of real stories about life after a dementia diagnosis.
Season three dives into the topics that can be hardest to talk about, with compassion, practicality and a unique sense of hope.
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