RECORDED Thu 30 Oct 2024
SUMMARY KEYWORDS: Fabry disease, complex health conditions, school connections, rare disease, genetic disorder, gastrointestinal symptoms, neuropathic pain, mental health, delayed diagnosis, treatment impact, school attendance, academic performance, physical symptoms, sibling impact, school adjustments
SPEAKERS: Megan Gilmour, Sophie Peel
Megan Gilmour 00:00
This episode is proudly brought to you by the TPG telecom foundation dedicated to creating opportunities to improve the health, wellbeing and education of Australian communities in need.
Hi, I’m Megan Gilmour, MissingSchool, co-founder and CEO, and this is Live & Learn. This is the Podcast that unearths insights at the intersection of health and education, building a powerful alliance to keep kids with complex health conditions connected to school from anywhere. The podcast is recorded on Ngunnawal land, and we acknowledge and pay respect to the traditional owners of this land and the land on which you’re listening.
Megan Gilmour 00:48
Welcome to our weekly webcast, a place to zero in on the interplay between health and education and to amplify the voices of those supporting school students to navigate their educational journeys despite complex health challenges, and today we are meeting with Sophie Peel.
Sophie, a Sydney native, graduated with a Bachelor of genetics from the Australian National University in 2021 and is currently pursuing a Masters of Social Work while working in disability support. Diagnosed with Fabry disease at age 12, after experiencing significant abdominal pain and acroparesthesia while playing netball, she aims to use her experiences to educate and advocate for others facing similar challenges.
She’s a volunteer committee member for Fabry Australia, and in her spare time, Sophie enjoys hiking, camping, cooking and playing board games with friends. Welcome, Sophie Peel. We’re so excited to have you on Live & Learn.
Sophie Peel 01:53
Thank you so much. I’m excited to be here.
Megan Gilmour 01:57
Great. So, let’s jump in. So, Sophie, obviously, today we’re here to talk about supporting school connections for students with complex mental and medical health conditions. So, let’s start by setting the scene. Tell us how Fabry disease impacts kids and why it’s something every Australian needs to know and care about.
Sophie Peel 02:22
So, I think when thinking about how Fabry impacts kids, it’s a hard one to answer, because there’s such variability between patients with Fabry disease in terms of symptoms and the phenotype. And so, there’s not really one size fits all. But generally, Fabry disease is a genetic disorder, so a kid may know that they have Fabry if it is in their family and they may have been tested, or they may not know if it isn’t in their family or if it hasn’t been picked up for them.
But there are quite a few different symptoms that a classical Fabry patient will have. Generally, they do also increase in severity and frequency over time, and they kind of develop some different symptoms throughout their life. But as a kid, the more common symptoms, I’d say, are the gastrointestinal symptoms. So that’s abdominal pain, nausea, vomiting, bloating, and that can really affect school attendance and social engagement for kids, or any people really, and their sleep.
Another symptom that I think really affects kids is acroparesthesia, which is related to their tolerance to the heat or the cold. So that is a neuropathic pain which feels, or is described as like a burning or a tingling in the hands and feet, and it can make it difficult to do exercise in hot weather, particularly. So that is a really big impact for kids who are wanting to do a lot of sport generally, or just being outside in the summer.
Then other symptoms include pain crises, where they have a number of different symptoms, all kind of happening at the same time, and these angiokeratoma, which is like this very Fabry specific rash that can appear on different parts of the body.
And then there are some different symptoms that affect various organs, like cardiac symptoms is quite a big one, but that does generally come into it more later in life, so kids aren’t as affected, I don’t think.
And then there’s, you know, other than the physical symptoms, I think there’s a huge psychological side of having a rare disease, generally. But also, you know, with Fabry, I think there’s a real complexity with that. So, I think quality of life is often affected, and an individual’s mental health can be affected.
I think school attendance is particularly affected for patients with Fabry disease because if they have symptoms that lead to them needing days off school, or they have additional medical appointments or days where they need to get treatment, they’ll have to take the day off school. So that can really impact them, their academic and social performance, I guess.
Megan Gilmour 05:46
Yes, that’s a lot, isn’t it? It is a real lot, and so much symptomology there, and complex symptomology, the interplay of that. It’s absolutely something that every Australian needs to know and care about for those reasons. And you mentioned that it is a rare disease, so bringing that to the forefront and making people aware of it is super important.
So many people probably assume things about Fabry. What’s the million-dollar question that you get, say, from parents or loved ones or from people you know with Fabry, when their child or when their child is diagnosed or experiences it?
Sophie Peel 06:39
I think it’s really difficult to kind of come to one question. I think I’m asked a lot of questions just because of the, you know, mysterious nature of the disease. But I think a big one is parents asking – if their child has just been diagnosed, it’s asking, can my child live a normal life with Fabry or a normal life? Or how does Fabry affect your life? Or how did it affect you as a child? I’d say the impacts of the disease on a child’s life is the biggest query I get.
Megan Gilmour 07:11
Yes indeed. So, what’s the most important thing that you want them to know, whether they ask it or not?
Sophie Peel 07:21
Yes. I think, in response to those questions, I really think it’s important for parents and families and patients newly diagnosed to know that Fabry doesn’t have to take over your life. And I think it’s important to kind of have a lot of conversations around the disease and really get a good understanding of it. When a child does get that diagnosis, I think knowledge is power.
I remember my diagnosis was really scary. And I remember being told I had a disease, and then I didn’t really get much confirmation or information about it very soon after. So it was a real kind of, yes, bizarre period where I was just kind of catastrophising a lot.
And I think, like there will be, inevitably, a period of coming to terms with the diagnosis for the patient and the family, and, you know, coming to grips with the onset of symptoms. And while that will differ for different individuals, I think after that kind of process of acceptance, it is really important to know that you can go on to live a fairly normal life with Fabry I think.
I come from a place of privilege saying that I’ve had a fairly good experience. But I think taking agency over what you do decide to kind of take on is really important.
I do think that also within the process of diagnosis, it’s important for carers and parents to be as open as they feel comfortable with their child. I think allowing the child to be involved in conversations and decisions that really affect them is really important, and I understand that young kids won’t understand everything, and maybe they should be left out of some conversations for their own wellbeing.
I think they can intuitively sense when maybe their parents are really nervous or stressed about something. And it can lead to catastrophising for the child if they don’t get the full information.
So just involving the kid in those conversations and also being an advocate for your child is really important, and I think that that also translates to schooling. So, you know, having conversations with teachers and different kind of staff at the school to make them aware of the situation is really helpful for the child’s schooling.
Megan Gilmour 10:27
Yes, and so I heard a lot there about, you know, you said catastrophising, so that uncertainty, I guess, in an early diagnosis: What’s this all about? How’s it going to affect me? And not being a knowledgeable participant in that process previously means that you’re just coming into it cold.
So, communication and filling that gap with, and you also highlighted the fact that it is individual, very individual, and it sounds like it across all of those symptoms, those potential symptoms that you mentioned, that could be happening concurrently or separately across time. Just having awareness of it and communication around it is a really key factor, I guess, even for teachers.
Sophie Peel 11:27
Yes, and I think, you know, and it is no one’s fault, really, because the process to diagnose someone with Fabry, if there’s no history of it is really difficult. So, there’s going to be that period of uncertainty, but I think just ensuring you ask as many questions as you can as a teacher or a parent or a patient and just understanding the needs of that child.
Megan Gilmour 11:57
Yes, and is it the case that – and forgive my ignorance here – there’s sort of flare ups, and then there’s times when things are going along, okay? Is that the way that it happens?
Sophie Peel 12:11
Yes, absolutely. So, I think that’s why, you know sometimes, for a while, a child might be going along just absolutely fine. You wouldn’t even know they had any kind of condition, which is the case, because it’s an invisible disease, you know. But then there may be a period of flare up, and they may need to take a lot of time off school, or they may just be, you know, really disengaged at school or with social relationships.
And that can be confusing to see when they’ve previously been very, you know, well behaved and similar to other kids, and engaging, and so just having some understanding that that might happen, and just going with the information that you have been given is really important, and to just to be, I think, curious, to understand why a child might be acting the way they’re acting, and just non-judgmental was really important.
Megan Gilmour 13:12
Yes, I heard invisible illness, and it was going to be my next question. And we hear that this can often cause a level of disbelief if people don’t have a good understanding where somebody’s completely okay for a while, and then these sorts of extraordinary symptoms present, and those might not be visible either. A rash probably is, but some of the other things you named their symptoms, and then they can’t be seen. So, I think I’ll just ask this now, is not being believed if diagnosis takes a long time part of the picture here as well, for some people?
Sophie Peel 14:03
Yes absolutely. I think that is across many different areas I think in the medical world obviously – or not obviously – but for individuals particularly who don’t have Fabry within their family, it can take a long time to be diagnosed. And not many doctors really do even know of Fabry disease, or at least when I was getting diagnosed, they didn’t.
So there’s a lot of what I can imagine is doctors or people thinking it’s just a child complaining and just not having much of an understanding about what they are experiencing, which, again, is completely understandable.
But I also think in the school environment, you know, for Fabry specifically, going into a PE class, like a physical education class, and experiencing this really strong burning pain in your fingers and toes, and, you know, telling the teacher you need to sit out because you’ve got this pain, or not giving a reason, because a kid may not want to give the reason, but I think it is, it’s important to not invalidate that child and just to believe them, I guess.
Megan Gilmour 15:20
Yes, again and just picking up there on something you said, which is, they may not want to disclose the reason, I think this is also an important point to draw out, and that may change with the age of the student. So, I’m thinking about teenagers now for example, who just don’t want to stand out, don’t want people to know too much in some cases, yes, that’s definitely going to be in the picture.
And I think it’s just a really important point around the balance between health privacy and then how you are using your agency, or being able to then obtain the kinds of adjustments or other things that you need –
Sophie Peel 16:13
Yes, yes,
Megan Gilmour 16:14
Yes, and we can probably dig into how best to go about that, like how families and how teachers can best go about observing confidentiality and privacy and respect and dignity and all of those things, while at the same time having enough information or enough of the type of information to enact their responsibilities or duties of care and that sort of thing.
So, we’ve touched on this, but I’d like to, if you’re willing to, is just, we’d love to know what brought you into the world of Fabry, and anything that you’re willing to share on that.
Sophie Peel 16:58
Yes. So, my journey with Fabry is a little bit of an interesting one, because I think a lot of, I don’t know the numbers exactly, but I think a lot of people are diagnosed with Fabry because it is in their family, and so they have done the genetic testing or their parents are aware that you know their child has Fabry disease. So, then these symptoms that they may start to experience, are kind of explainable.
My situation was slightly different. I started getting this pain in my fingers and my toes when I was about eight years old, and I was playing netball every Saturday, as many kids my age did. And through the summer months, I remember it started to get really, really difficult and really painful. And I would explain, I would complain of, you know, my fingers and toes being on fire. And every week, I would generally, I think, push through it, and then it just got really bad that I would need to come off the court.
And people just didn’t understand it, which is fair enough, and they kind of thought it was this child just being dramatic. So, I had a couple of different symptoms. I also had a lot of abdominal pain, which meant I took a lot of time off school.
So, I went to see my GP and a physio about the pain in my fingers and toes, and no one understood or knew what that was about. It wasn’t until I went to just a regular optometrist appointment, because I wore glasses and I wear contacts now, and this optometrist saw these corneal whorls in my eyes, which is one Fabry symptom as well. And so they then referred me to an ophthalmologist, and I was really lucky to be seen by both that optometrist and ophthalmologist, because, again, so many optometrists, I can imagine, most wouldn’t know that corneal whorls were linked to Fabry.
And then so I was referred by that ophthalmologist to the Westmead pediatric ophthalmologist, and then finally referred to Dr Carolyn Elloway at the Wesley Children’s Hospital, who ended up being my metabolic specialist, and she did some testing, and after about four or five months I’d say, I got the confirmation from this genetic testing that I had Fabry disease. So it was a fairly short timeline, relatively but it was, it felt like a very long process for diagnosis.
Megan Gilmour 19:59
That’s fascinating about the eyes, and as you say, I guess that element of good luck in there that’s, you know, to do with a diagnosis, just happening upon someone who’s got that knowledge and understanding of something that’s so rare, is rare in itself.
So, your lived experience, as well as the work that you do now, and your professional life and your studies is all leading you to extraordinary expertise on this.
Sophie Peel 20:37
Yes, well, I actually, I studied my undergraduate with a Bachelor of genetics, because I found this real interest in genetics, I think, through this diagnosis and all these conversations I was having with the doctors at Westmead. And then got into, I worked in mental health, and that was kind of related. And then now I’m on the board for Fabry Australia. So, it does all kind of but, yes, it’s funny,
Megan Gilmour 21:05
The way our lived experiences lead us to purpose as well.
Sophie Peel 21:09
Yes, yes
Megan Gilmour 21:10
And, I’ll stop there, because I’ll move on to the next question, so we’ll get to it. So, knowing all that you know through your lived experience, what’s your biggest hope for kids with Fabry disease, their families and loved ones when navigating Fabry?
Sophie Peel 21:37
So, I think my biggest hope is that awareness around Fabry increases, and we can then reduce diagnosis timelines – the time between someone getting their first symptoms of Fabry and being diagnosed; that can all be reduced.
And I think within that, a big hope is just that these children can feel empowered and understood through that process. I think it comes down to more information and more education on rare diseases and Fabry disease, and it’s also that the communication between medical professionals and families and then schools as well.
Just more conversation around the reality of living with Fabry disease will hopefully really increase awareness and reduce those timelines.
Megan Gilmour 22:40
Yes, and that leads in beautifully to the next question, which is, what are some of the common and perhaps frustrating public misconceptions about Fabry, and how have you seen this impact families?
Sophie Peel 22:57
So, there are a couple of big misconceptions with Fabry, and they’re starting to be kind of debunked. But one is that girls can’t have Fabry disease, as it’s an X linked disorder, or that girls can only be carriers of the disease, and that that’s a kind of old misconception, I think now, it’s fairly known that that isn’t true, and a lot of girls do have Fabry disease. But that can make it a longer process, I guess, for some girls, at least, to be diagnosed, because I think those beliefs are still, you know, floating around a little bit.
Girls also, I think, generally, experience symptoms less severely to boys. I think another misconception is that you should wait until you absolutely need treatment for Fabry disease. And I think this, it may not be a misconception, I think it’s just, it’s kind of like a point of conflict or a controversy between individuals.
But I do think, because females often have a milder phenotype than males, and even, you know, males with a milder phenotype, the kind of involvement of the different organs develops over time. And so, you know, starting treatment early can really help and prevent quite bad damage from that organ involvement.
So, I think, yes, a misconception is that we shouldn’t be starting treatment as soon as it’s diagnosed, or as soon as an individual really, absolutely needs it to really increase life expectancy and wellbeing generally, I think.
Megan Gilmour 24:55
Yes, and you mentioned, and this is the point I was going to come back to before, which is one of the things that we experience a lot as an organisation, is that we’re talking about physical conditions, and that’s separate to mental health conditions.
And I just find that so extraordinary, because to understand a serious health condition and to not understand that it would have an effect on your wellbeing, your levels of anxiety, your levels of depression, your mental health overall, is just to me that just seems so obvious, right?
Okay, so I just want to highlight that again at this point in the conversation, that yes, we are talking about a genetic physical illness, disease. However, the interplay between the physical and emotional and mental is just, you know, so clear and connected that that’s a part of the picture here.
Sophie Peel 26:08
Yes, and I think that’s something that feels maybe more approachable for teachers or individuals at schools to understand, because while they may not know all the specific physical symptoms that a Fabry patient may experience, or a patient with another disease may experience, I think just the acknowledgement that there will likely, or there could be, that mental health element coming into it is really important. And yes, just focusing on that does a whole heap of good.
Megan Gilmour 26:40
Yes, and we’re doing a lot of work around the fact that physical and medical conditions are not being explicitly mentioned in our national school reforms, but mental health is throughout everything and mental unwellness, therefore, and just again, coming from that perspective, would be to say, to deny physical diseases or health conditions and just talk about mental health issues as the only thing that could be causing a lack of wellbeing is just also crazy to me.
So, you know, and Fabry is just one of many rare diseases of course as well as one of many common diseases as well, or more common diseases. So, we’re working really hard to get the conversation around both physical and medical and mental conditions, and that wording explicitly showing up in reforms, in documentation, in education systems, so that it flows through into schools as something to be recognised, and the interplay of the two is so critical. Yes, so that’s just a plug for the work that we’re doing to try and get these recognised, like on the map.
Sophie Peel 28:23
Yes,
Megan Gilmour 28:24
So how many Australian children and youth are living with Fabry disease right now?
Sophie Peel 28:29
So, it is difficult to like come to a definite number. I think it’s a really under diagnosed condition because of the kind of range, the broad range of phenotypes, and the lack of awareness around Fabry. But the current prevalence of Fabry disease is estimated to be one to five in 10,000 but it increases to one in about 3,000 when late onset variants are accounted for.
In Australia, about 500 people have been diagnosed with Fabry. Again, I don’t know the numbers of youth or children specifically, but most people are not – that’s not true – if Fabry isn’t in the family, it’s more likely that a child may not be diagnosed with Fabry, and it’ll be in their adulthood that their diagnosis will come. So, yes, more adults than children, I’d say.
Megan Gilmour 29:43
Right, yes, and there’s a mixture of reasons there for the data to be absent or complicated, you know, with the under diagnosis and onset and all of that sort of stuff.
Sophie Peel 29:51
Yes
Megan Gilmour 29:51
So, my next question is usually, well, actually, the next question is actually, is there a risk of delayed diagnosis, or are most cases picked up easily?
Sophie Peel 30:13
Yes… I did a bit of looking into this, and it’s about a quarter of Fabry patients are diagnosed in childhood. And I wasn’t sure if that was just based on an inheritance or just new mutations, but there is a median delay I found of between 14 to 21 years between experiencing first symptoms and diagnosis, which is fairly significant. It’s a long time for someone to be experiencing these confusing symptoms without treatment
Megan Gilmour 30:55
Yes, or appropriate or matched treatment,
Sophie Peel 31:01
Yes, and validation,
Megan Gilmour 31:03
That is extraordinary, so it was worth asking that question again!
Sophie Peel 31:07
Yes, yes definitely. But think that the risk related to – I’ve kind of been into this as well – I think the risk related to delayed diagnosis, is when you consider that Fabry often results in progressive and irreversible tissue damage prior to treatment commencement. So the earlier it is diagnosed, the earlier someone can be put on treatment.
Megan Gilmour 31:14
And I think we should hold a little marker there for when we dig into the school stuff, because if that sort of delay in diagnosis is there, we could have kids being in school well for most of their school life, undiagnosed. We can pick that up a bit as we dig into the next part.
So, what kind of complications do kids with Fabry disease face? I guess that’s one that we just talked about there – not being diagnosed. That’s one complication. What are the others?
Sophie Peel 32:11
Yes, I think that’s one, and obviously the physical symptoms, and mental health as well. But I think the most common physical symptoms I think for kids with Fabry seem to be those acroparesthesia and neuropathic pain, and the gastrointestinal issues, and I think that really affects their involvement in school and their social life and sports.
And I think, I mean that’s a big complication, I think just having it come into all those facets of life is just really difficult for a child, especially if they don’t understand what it is or why it’s happening.
Megan Gilmour 33:03
So, yes, and this isn’t a question that I usually ask, but is there any likelihood that there would be an increase in – quite apart from improved diagnosis – an increase in the presentation of Fabry as a disease.
Sophie Peel 33:26
Do you mean, like if someone is displaying more symptoms?
Megan Gilmour 33:33
I mean, I haven’t asked that very well. It’s about whether there could be any, I guess, environmental factors that trigger the genetic predisposition to it. But obviously this is coming from my lack of understanding of the disease itself. So, I guess I’m saying, as we progress into the 21st century, even if we had better diagnosis, is the number of people presenting with Fabry increasing? You know, is there a likelihood that that’s happening? Does that make sense? Like is the prevalence of it –
Sophie Peel 34:12
Yes, so, I think, yes, there are more people being diagnosed with Fabry. I was speaking with my previous doctor the other day actually and he was saying that the increase of newborn testing and genetic testing that’s kind of happening, is leading to more diagnoses of Fabry, just incidentally, because people might be testing for other diseases, for their unborn child and Fabry disease might be picked up in that. And I think that’s a bit of a conflict which is affecting whether they should do this newborn testing or, you know what they should test for.
He did say that a lot of his newer patients have been diagnosed through a process like that – this testing. So, I think, yes, with the advent of more newborn testing and different testing, there will be more patients. But I don’t know if the number of Fabry patients is actually increasing, or if it is just the diagnosis improvement or methods.
Megan Gilmour 35:23
So next question is, how are siblings and peers of kids with Fabry impacted, and what should families and teachers be across?
Sophie Peel 35:34
So, as its genetic, siblings may have Fabry, but if they don’t, and for peers, I think it’s really beneficial to have some understanding of the patient or the individual with Fabry’s kind of common symptoms, I guess, and things that may trigger those symptoms or may improve any discomfort or pain that that individual is experiencing.
I think with peers, it’s more difficult because, you know, the child with Fabry may not want to or may not have disclosed that to them, so it can be confusing. But I think for families and for siblings… I think there’s a huge … it’s really difficult, because as for any family where one child has a condition and another doesn’t, the sibling that doesn’t have the condition will likely get less attention, and they may experience a different childhood, I guess, to that child with the disease. But I think just understanding the patient’s disease a little bit can be really helpful for that individual. Yes,
Megan Gilmour 37:08
This isn’t obligatory, but how did it affect your siblings if you have them?
Sophie Peel 37:19
Yes, so I have one older sister, and, she is great, she has always been incredibly empathetic towards me, and she hasn’t had much of an understanding of Fabry, which is completely fair, neither did I for a long time. But I can see how much attention I was given as a kid versus her, just because, you know, I was complaining of this pain that I was getting, and so my parents would often be looking after me or bringing me to appointments, or, you know, asking me if I was okay.
And I think it’s, it’s difficult, because it’s that’s not anyone’s fault, and it must be difficult for parents as well to juggle. But I do think it’s important to pay attention to and not only to give that sibling or those siblings just as much attention, but also to ensure that the child with Fabry is given attention that is unrelated to Fabry disease as well. You know, not always responding to the child, relating to their health, or, you know, any symptoms they experience, I think having a relationship outside of Fabry is really important.
Megan Gilmour 38:36
Yes, you picked up on that earlier. And really worth highlighting this, is that need to be who you are, the part of you that’s not a patient, the part of you that doesn’t have an illness. And I know that sounds crazy, right, when it’s just so much a part of life.
And I really love the way that you shared there – about parents relating to a child; that the relationship not be just about the health issue, the health condition, the symptom, that you’re seen and heard for all the other aspects of yourself, and those have a chance to develop as well and reach their full potential or be explored as well. And so, I suppose that’s true for the siblings too, isn’t it?
Sophie Peel 39:39
Yes, yes, for sure, not that it should ever be about comparison, but I do think recognising both or all children’s strength, and areas where they might need some support, is really important, regardless of any condition in the family.
Megan Gilmour 40:01
Yes, that’s super, super important to take away.
And now we move on to school. So, what’s the current population of school-aged children with Fabry? And how accurate is this? And is the data track, for example?
Sophie Peel 40:18
Yes. So, I wish I was able to find this, and I wish we had this, but I was not able to find it. Yes, I think it’s really difficult to know. Yes, I can’t give much there.
Megan Gilmour 40:34
As a team at MissingSchool, we always share, and we collect a lot of data, and our point of view is always the same: saying there’s no data is just as important as being able to give a number. Because not having the data is – in itself – a data point, a very big data point. Yes, so very worth asking and answering that one.
Do kids with Fabry currently miss a lot of school? And why?
Sophie Peel 41:09
Yes. So the answer is, yes, to generalise. In my experience, there was a period in when I was in year 10, I had to go in, and my parents had to come in, and I had a meeting with my head of year and a couple of other teachers at the school because I had missed a pretty significant number of days. And getting to year 10, you know you’re coming to the more pointy end of your schooling life, and you really can’t be missing that much school. There’s so much that you miss out on.
So, yes, we had to have a meeting with the teachers to give them an update, provide more information why this was happening, but also to understand how I could continue going to school when I could, and doing all the work I needed to do while living with this condition.
The onset of disease and development of different symptoms, again, differs between children, but as you were saying before, they will generally experience flare ups of symptoms. So, you know that can be in exam periods or in really high stress periods, and that is pretty concerning and really affects academic performance.
So. Yes, symptoms is a big one, that means they may miss a lot of school. A Fabry patient or a child with Fabry will likely have more doctor’s appointments than other children without diseases, I guess, or healthy children.
And also for those on treatment – treatment for Fabry requires one day a fortnight, either at home or at a hospital, so they will have to miss a day a fortnight off school.
So, I had to take all my schoolwork to the hospital when I started getting treatment, and I missed one day a fortnight, plus other days for symptom flare ups and different things, I guess.
Megan Gilmour 43:32
So, one day out of 10,
Sophie Peel 43:34
Exactly
Megan Gilmour 43:35
That’s already passing the threshold. Anything more than 10% of school missed can create long term effects and that’s, as you said, that’s just one known absence across the whole school life.
Sophie Peel 43:54
Yes.
Megan Gilmour 43:55
This is an unscripted question, what was your hardest time at school, like, what was hard about school for you personally?
Sophie Peel 44:13
I do think, and I think it’s hard to know how much to relate something to Fabry, or justify something because of Fabry, but I do think forming really strong friendships was hard, and, you know, I was someone who did not communicate too much with my friends about my Fabry disease, and so when I started missing one day a fortnight for infusions, I hadn’t told anyone.
And so, it was a little bit kind of confusing why I was missing so much school, and then you know why I wasn’t explaining anything, I think that was difficult. So yes, forming those really strong friendships was one of the harder parts of school for me.
And also, I did feel a lot of invalidation, or I didn’t feel validated by certain teachers. You know, when I was in PE and I made excuses to, you know, get out of doing the beep test, when there were other kids also saying they, you know, couldn’t do it, or didn’t want to do it or whatever. And I was kind of just considered one of those kids who was just like complaining again.
And I’m sure there were other kids who wanted to get out of it for real reasons too, but, yes, I think that that feeling of being invalidated was really difficult, and I think that’s important and difficult, but for teachers to just pay attention to.
Megan Gilmour 45:56
Yes, thank you for sharing that. What are the critical times, if any, in a kid with Fabry’s school life, are there any things that stand out more than others for you?
Sophie Peel 46:08
So in terms of like Fabry disease and those kind of milestones, I guess, like the period where a child is diagnosed is obviously really big, and that can affect their attendance or their focus at school, if their mind is somewhere else.
And then starting treatment, if they do start treatment while they’re in school, or if they do start treatment at all, can be really difficult as well, and lead to missing school.
I think, in terms of just thinking about the lifestyle of kids, the age where one might become more interested in playing sport or doing hobbies that require, you know, high activity or energy.
And also, the time when they start to get more involved with friends and have more social occasions outside of school and outside of their house. Fabry symptoms might come in and impact their ability to engage there or attend certain things, and that might be because of fatigue or pain or appointments.
So, yes, some, different kind of critical times. But I think understanding what the child is going through, or what phase of life they might be in can really justify, I guess, how they’re going.
Megan Gilmour 47:40
Yes, and any side effects from the actual treatment that cause other symptoms?
Sophie Peel 47:49
Again, that I think differs between people. I personally experience a lot of fatigue after my infusion the day of and the day after, and I also get a flare up of abdominal pain day of and day after. So that’s something that I kind of plan ahead for to know, not to plan too much the day after an infusion.
But again, a child who has to go to school, can’t really avoid going to school and taking two days off school.
Megan Gilmour 48:20
Yes, that’s what I just wrote down. Two out of 10 straight up.
Sophie Peel 48:26
Yes
Megan Gilmour 48:28
Another unscripted question was, and I’m going a bit backwards here, but it’ll only be brief. In the time between when your symptoms started to present, which I think I heard, as age eight through to diagnosis, were you missing a lot of school days then when it was undiagnosed?
Sophie Peel 48:55
I don’t remember. I must say. I do think probably more than your average kid, because I would often experience my abdominal pain in the evening or the nighttime, and so that would really affect my sleep. And I was already – because of the fatigue, and I think other elements of Fabry – I was already really exhausted.
And so, you know, I would have slept in for hours in the morning, which is unlike me now, at least, but that often affected my attendance. And I think it was probably something I just pushed through a little bit. But I enjoyed school in primary school, and so I probably wanted to go more so than high school.
Megan Gilmour 49:50
This is probably a question for your parents. But was it ever problematic, the school nonattendance or the absence? Was it ever problematic from the school’s point of view?
Sophie Peel 50:04
So not in primary school that I can remember, but that was in high school – that was what kind of triggered the need for this meeting.
Megan Gilmour 50:17
Hopefully we can pick up a little bit more about what the plan was after that meeting too.
So, what should families and schools be prepared for at different times? Are there any little tips there that will come in handy?
Sophie Peel 50:37
Well, I think as long as, you know, the child consents, I guess, or agrees to it, I think the parents having a conversation with the teachers that will be most involved in the child’s schooling is really important, just to really spell out the symptoms that that child may experience, or the presentation that might indicate they’re experiencing, you know, a Fabry flare up, for example.
And I think in making sure that they understand a child’s focus. If they are unfocused in school, it could be related to their Fabry, it may not be just, you know, acting out. And I think it’s really important to respond quite intentionally to any child, but just have that in mind.
I think making a bit of a plan for non-attendance, to organise how this child might catch up on work if or when they have to miss any day of school or, you know, an exam, for example. And working with the school, hopefully to have some flexibility around that.
I think there should be a specific conversation about, like, sports days and physical education, because that is such a big difference for Fabry patients.
Megan Gilmour 52:07
And excursions,
Sophie Peel 52:08
Yes, and excursions, anything really that involves, yes, being outside in the heat, potentially, or physical activity.
I also think something that families and schools can help prepare for is ensuring the child has someone at that school that they trust or having conversations with the child to know who that would be. And then – maybe the whole teaching team doesn’t need to know this child’s symptoms – but I think having one person that that child can go to at the school who does have an understanding of their Fabry is really important.
Megan Gilmour 52:57
Yes, yes. That’s a great short list there. I think many of those things apply to any health condition, and this is precisely what we want to draw out in these conversations, you know, what are the ways that, the systematic ways that schools can help and the things that can be put in place.
What are the biggest challenges and vulnerabilities for kids with Fabry at school? So, vulnerabilities and what’s really going to tip the balance in a difficult way?
Sophie Peel 53:40
I think I’ll probably repeat myself a bit here, but I do think that reduced attendance affects academic performance, as well as the psychosocial difficulties and making friends and forming really strong bonds with people, which is just so important, I think, for a child’s enjoyment or experience of school.
I think the – this is not to stereotype – but I think – I can imagine, and I’ve heard that, you know, boys are so often playing sport at school, in their breaks. But also, for girls, for anyone, participation in sport and physical activity at school and even recess and lunch when they’re outside, that that can be a really big challenge for a kid with Fabry disease. So, I think that’s important to acknowledge.
Also, the impact of treatment on school and, yes, the attendance and the impact on their engagement.
Megan Gilmour 54:52
And then I guess the flip side of that, and love to hear what you found worked for you, but also what you think didn’t work for you, or might have worked better. What’s that positive flip side of what could be done to address those vulnerabilities and challenges? So that’s the first part of that question. And then there’s a little follow up.
Sophie Peel 55:24
Yes, so for me, I think I was someone who, as I was saying, I think different people will go about their Fabry journey and Fabry diagnosis differently. I resisted being very transparent about my Fabry with friends or really with the school, I didn’t really want other people knowing.
But when we did have to have that meeting, and when I did, you know, make my PE teacher aware of the issues I was having with PE, it did make it more doable and more approachable to even go to school knowing I had, you know, a PE class and just having people know I have some understanding of your condition, it absolutely helped.
I started, I think, my experience with Fabry pre versus post treatment is, I guess, independent of my experience at school, because I think I started having treatment when I was, gosh, how old was I? It was in 2014, so I was in high school, and it took a couple of years, I’d say, to get used to the treatment and that whole kind of process.
So, I think when I started getting treatment, it was a little bit more difficult because I was missing that school. But I think eventually it did make my schooling easier, and even though I had to take, you know, one day off every 10 days of school, it made the other nine days, or whatever, more bearable.
So, I think that the advent of new treatments is also going to kind of continue to minimise these challenges for children, and hopefully it’ll mean that Fabry has to affect a child’s life less than it may have in the past.
Megan Gilmour 57:30
And at this point, we can throw in there that some of the things that you’re talking about there that might have occurred in your year 10 conversation, was what under the Disability Standards are called as accommodations or adjustments, and they are things that the school can do through the Disability Standards for Education to enable more equality, you know, equality of opportunity and balance out, as you said, the differences there between, say, your journey and someone who didn’t have Fabry to put it bluntly.
And having individual learning plans in place, an Individual Learning Plan to enable those accommodations and adjustments to be systemised across the whole school, especially in high school, where different teachers, for most subjects, you have a different teacher.
So having that learning plan and those adjustments agreed to, to enable you to – I don’t know – have longer, for assignments, variations in the way you do assessments, obviously time away from school for treatments or for convalescing.
We’d love to see even adjustments to incursions rather than excursions. So, like, how can that be adjusted to enable participation and enjoyment and recreation that doesn’t have to hurt, you know? So, just that, sort of, those different ways of thinking.
And the other thing you were talking about brought to mind this kind of health and safety plan in the school whereby, and that’s portable, that can go with you to hospital if you’re ever in hospital, and it can include both school considerations for health professionals to understand as well as, the school to understand the health situation.
But something I heard there, and I’ll just frame it up this way, is a teacher at school doesn’t even necessarily need to know the name of the illness. But what is most important that we see at school is the way that that condition affects you personally. So, it’s, as you said, it’s not even everyone with Fabry, it’s because the presentations, the experience, the level of stress or anxiety or mental health issues associated with the level of support at home, all these other sorts of things.
An Individual Learning Plan and health plan can take into account what’s likely to happen, and what do you need to know about and what do we do when that happens, so that you have some level of privacy observed, but it’s more the impact of that condition on your education, and that can change across your school life. So, the learning plans and health plans need to be updated and adjusted, depending on where you’re at, at a different time through your school life and your school journey.
So, it’s just something that I’ve kind of put together there about, you know, we’re not expecting teachers to be health professionals, but we’re giving them the right amount of information that they need so that they know what’s happening when it’s happening, and there’s a plan in place to respond to that.
Sophie Peel 1:01:21
Yes, I think that kind of brought up a lot of things for me, what you’re saying, but I agree. I think that it’s, I understand teachers are completely over capacity and doing the best that they can. But I do think that there can be structures put in place to improve the experience for kids with diseases, particularly. And I think, a plan for each student, which really outlines, you know, I think even their symptoms, the common symptoms that they get, can be really helpful for teachers and for students.
And I think, as you were saying, I think it’s about really leaning on lived experience. And that is where I was saying before, bring the child into these conversations. It’s not only really important to make the child feel empowered, it’s going to lead to much more targeted outcomes and allowances that will benefit that child.
And I must say, something that is really difficult is that me as a child at least, and I think quite commonly experienced, children struggle to kind of explain their emotions or, you know, what they’re experiencing. And I think the Fabry, or for a rare disease where these symptoms are not very widely experienced, or other people can’t relate to them, is even more difficult.
So, I think providing some sort of suggestions as to what, what allowances could be helpful for the student, and then putting that to the individual is really important to kind of prompt them. But yes, just kind of providing the teacher with all the information that is based off what a student has said is, is really important.
Megan Gilmour 1:03:27
Yes, and that young person then becomes a better agent for their own experience and process as well. They become an informed participant in their health and education journey. If they’re not engaged in it, then what’s also not being built is that capacity to become your own advocate, which eventually will happen, whether you like it or not.
And so why not get into the training early and enable that with the schools and families to happen as early and as soon as possible, respecting age and level of information and how that communication happens, but certainly, I can’t think of a time when having your agency built and developed is a bad thing, you know, it’s always a good thing. So, this is a big takeaway.
I have to say, my brain is going to some future project that I’m thinking about now as a result of this. It’s so great because we have these conversations a lot, obviously, about MissingSchool’s work, but these types of conversations we’re having more and more often, and it just, it’s always remarkable just how one conversation in particular can kind of lock in or bring together a whole lot of different creative processes and lead to something that could be helpful. So more to come on that.
Just quickly on missing school. What did that feel like for you, being away?
Sophie Peel 1:05:20
It was, it was a real conflict. I remember because, yes, it was largely in high school for me, and I must say, I didn’t really enjoy my high school experience, but I also felt a lot of pressure every time I felt I needed to miss school, and that was for academic reasons and for social reasons.
And I felt that every day I missed I needed to explain it, and I never knew how to explain it, and I didn’t really want to explain it. I think it’s really unfair almost how much having a disease or experiencing pain or symptoms affects so many different areas of a child’s life and feeling kind of guilty for having to miss school when, you know, so many kids just wait for the day where they get the day of school. It is, it is really difficult.
And then, you know, it would mean that sometimes I would, quite often I would go to school having had a really terrible night or feeling pain because I felt I had missed too much school recently, or I was getting too behind in my work, and it was leading to stress. And so, yes,the missing school really kind of affects a lot of different elements of wellbeing and mental health.
Megan Gilmour 1:06:44
Yes, it’s a lot, isn’t it on top of everything else.
Sophie Peel 1:06:47
Yes, it’s a lot. And I think that that increased stress then kind of increases physical symptoms, and it’s just again, so interconnected that, like, kind of dealing with both areas is just so important. More holistic is the way to go.
Megan Gilmour 1:07:07
And wow, just that statement, increasing the stress, in turn, increases the physical symptoms and presentations and issues. This is really something that we need to be talking about more because, you know, our health systems and when it all works well, like everybody’s invested in that, you know, finding that cure or that better drug, or, you know, resolving symptoms or treatments.
And then, if we don’t address the other major part of a child, a young person’s life, which is school, and we’re actually increasing the stress because of missing school, then treatments aren’t working as effectively as they could, and quality of life that the treatment is meant to address and provide for is also not optimal, so it’s super important!
Sophie Peel 1:08:07
Yes, and that’s where I think there’s going to be so much less money needed to be spent and time and effort spent, if we can focus on managing the disease, and, you know, helping someone live with the disease rather than reacting when they do kind of experience symptoms or responding to that I think will do a whole, a whole world of good.
Megan Gilmour 1:08:29
I’d love to see that on a poster. It’s a really, really big takeaway. Again, that’s a different way of looking at that interplay between physical health and mental health. We know that poor physical health will exacerbate mental unwellness or feeling unwell mentally.
But the other side of that is that anxiety and mental pressures and stress stressors are going to reduce physical wellbeing, and why we have to make continuity of school connection a big-ticket item in all of these rare diseases and complex illnesses and serious illnesses, even injury, it just needs to be, school needs to be a big ticket item in all of these, as such an important part of the child’s life.
We’re getting to the close here. Anything else we should be asking about school quality of life for Fabry disease. Have we missed anything here?
Sophie Peel 1:09:40
Yes, that’s difficult. I feel like there are so many things that you know have gone off in my brain, and I’ve probably forgotten things that I would have loved to have brought up. But I just do think that, I mean, it’s the balance between making a kid’s life as normal as possible at school is so important, but also acknowledging that they do have a condition that requires or that would benefit from having certain adjustments is really important.
So, I think not that we’ve missed it, but I do think being informed by the child is the most important thing. And I think just as a teacher as school staff, just understanding that a child might be going through a whole lot more at home or something that they aren’t willing to or comfortable to explain to their peers or their teachers.
Megan Gilmour 1:10:46
Or can’t share or as you said, don’t know how to,
Sophie Peel 1:10:48
Yes, yes, exactly, and really just building those relationships is really crucial with students to then maybe elicit those conversations, or, you know, to build trust and for kids to feel comfortable having those conversations, if they can and want to, and then that will benefit their schooling life, and maybe the engagement of the whole class.
So yes, I think, just like as any teacher I’m sure knows, and, you know, strives, going at it with empathy is just like the most important thing,
Megan Gilmour 1:10:49
Yes, empathy, it’s the prescription for everything, isn’t it? It sure is…I did remember my question or point. It was, that we might hear from people, or people might be thinking ‘yes, but you know, Sophie went to ANU and, you know, look, it wasn’t a problem’.
I guess I’d love to hear what you have to say about that. If there’s anything else? What I’d like to say about it is, ‘yes, but, school life could have been so much better, at the time’. You know what I mean?
Sophie Peel 1:12:14
Absolutely I completely agree with that. And I think that, yes, I went to ANU and, you know, I went on to tertiary education.
A lot of my Fabry journey or process to accept Fabry, it was long, and it was a lot of me proving to myself that I could do what other students or other young people could do. And so, I think the bar that I set myself, it was the same level as, you know, the bar that I set everyone else.
And it’s been a real process for me to acknowledge that maybe that bar can’t always be the same height. I’ve got to understand that I do have different needs and more complex needs than some people, and I’ve got to really give myself that kind of allowance, and that space, I guess, to, like, fall short of those high standards that I set.
So yes, I went to ANU, I did a degree. It was hard. I was going through treatment through all that, and I was traveling back from Canberra to Sydney every two weeks for treatment. And it was really exhausting. And there were some different Fabry things that came into my university life as well.
But it doesn’t at all reflect, I guess, the difficulties I experienced with Fabry, although I do want to say my experience with Fabry has been much easier and more doable than a lot of people, so I am very grateful for that.
Megan Gilmour 1:14:04
So along with empathy, there’s compassion to self as well, right? And I don’t know if you remember, but at the beginning of the call, you did say, and learning some of the things that you can’t do. So, I think that’s a fantastic book end there.
So, call to action: Sophie, what’s your call to action for Fabry in seven words or less?
Sophie Peel 1:14:33
Oh gosh, I think this is a really hard one. I do think to repeat myself once again: listening and knowledge is power, and you know, lived experience really needs to be the center of what we do going forward.
Megan Gilmour 1:15:01
Yes, perfect. So, a big shout out to you, Sophie, for sharing so generously of your lived experience, your ideas, your perceptions and your professional experience as well. And a shout out also to Fabry Australia. And you can find Fabry Australia online, fabry.com.au [https://www.fabry.com.au] head over there. And I’m sure Fabry takes donations and would love to hear from anyone who wants more information.
So, we send our thanks for this collaboration, which we hope will enable each of us to do more in terms of school connection for kids who are having health challenges and mental health challenges, and one day, this will just become business as usual in schools. Thanks for joining me today, Sophie.
Sophie Peel 1:16:03
Thank you so much for having me a pleasure. Can I just make one call out, which I think I had dotted through all of my notes in response to many questions, but I don’t think I brought it up.
Having Fabry you know, of course, it comes with a lot of kind of negative and less fun realities, but the connections I have made and support I have had from Fabry Australia and the Fabry community has been so worth the diagnosis and in my experience of Fabry.
There are some incredible people in that group and building that community and building those connections with those people has been transformative to my experience with the disease, particularly as someone with a new mutation who doesn’t have anyone else in the family with Fabry.
Finding people who can relate to my experiences was incredible, and continues to be incredible. But just generally, as people, they are really, really great. So, I’m very grateful for them.
Megan Gilmour 1:17:15
Yes, and it’s great note to roll out on, which is, despite all of the things, those human connections and deep human connections, especially around lived experience where there’s so much you don’t have to say or explain, so you can just get on with being a person instead of having to delve into long discussions is just so nourishing. I recognise that myself in my own journey as well.
Megan Gilmour 1:17:53
Thanks everyone for tuning in. Help us turn up the volume so all kids are seen and heard. Follow along, LIKE, SHARE COMMENT or leave us a review, because we love hearing from you. And if you want to donate head to missing school.org.au [https://www.missingschool.org.au] because every dollar makes a difference.
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