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Patient Perspectives: Vaila Morrison – Architect, Mother and Rare Disease Advocate (KAT6A syndrome)

Vaila Morrison is an architect focused on sustainable and inclusive design as well as a mother to a child with an ultra-rare genetic disorder. Vaila’s daughter, Eilidh, was diagnosed with a rare neurodevelopmental disorder known as KAT6A syndrome at the age of six after partaking in the Deciphering Developmental Delay (DDD) study.

Please note the transcript has been edited for brevity and clarity.

FLG: Hello, all, and hello Vaila, thank you so much for joining me as we explore Patient Perspectives, and the impact genomics is having in patient and family lives. Before we begin, Vaila, if you could introduce yourself and tell us a little about you and your family.

Vaila: Hi there, I’m Vaila Morrison – mum of two. My oldest child, Eilidh, is 10 and she has a rare condition, and my youngest is my 7 year old son, Elliot. I live near Cambridge with my husband and the kids.

FLG: Your daughter was diagnosed with KAT6A syndrome. Would you be able to explain what this condition is?

Vaila: KAT6A syndrome is an ultra-rare condition. She wasn’t actually diagnosed until she was six and a half. Shortly after birth we noticed she wasn’t hitting some development milestones and up until she was six years old, we didn’t have a diagnosis for her. She was undiagnosed, which was a bit of a confusing time. She got her diagnosis through being on the DDD study, the Deciphering Developmental Delay study – tongue twister – which is a whole human genome sequencing type test. When she was diagnosed it was pretty, pretty, pretty, rare, this KAT6A syndrome. At the time I think there were less than 100 diagnoses worldwide. Now, I think we’re getting on for about 300 and there are probably loads more children who have not had the opportunity to get genome sequencing done who probably have the same syndrome.

Because it’s so ultra-rare, there’s not that much known about the condition itself, just that it impacts her development. So, she has got learning disabilities, mobility impairments, she’s very sensory focused. KAT6A syndrome is named after the gene that the “glitch” is on, and the KAT6A protein apparently is one of the proteins that helps other proteins in the body. So, when your KAT6A protein is affected, it then globally affects you. There is some research going on over in the United States which suggest that there might be a metabolic issue. So, that may explain some of the developmental things that her body’s not metabolising things how it should be. We really need more to be discovered about it to be able to really understand the syndrome properly.

FLG: Was the onset of your daughters’ symptoms rapid or more progressive?

Vaila: She was very gradual. There were no hints that she could have any syndrome while I was pregnant; she was a typical pregnancy. When she was born, she had the usual newborn things going on with her. There was meconium in the water, so she had a little bit of an infection first off because she swallowed some poo when she was born. So, she was put on antibiotics straight away. In some ways, it was quite useful because we were in the hospital, because she was on those antibiotics that they noticed a few other little possibilities. Some of her reflexes were a bit delayed; she had trouble feeding. We struggled for quite a number of weeks with combined breast and bottle feeding but we thankfully managed to get her onto breastfeeding eventually, but her latch wasn’t very good; it was quite of a relaxed latch. There were various bits and pieces, but obviously lots of babies have problems with feeding. And she then developed reflux, and because she was our first child, people go, ‘Oh, babies get sick, and babies have reflux, and that’s quite normal’. So, you don’t have any comparisons, like how extreme should the sick be. It was a bit excess at times, but we were told, ‘Oh, babies get sick’.

She also had a hole in the heart. Sounds a bit ridiculous to forget a hole in the heart, but again, that is quite common in new babies. She had what you call a PDA and an ASD. So, PDA (patent ductus arteriosus) is the duct that bypasses the lungs, so when they’re in the womb they can’t breathe air.  All babies have those, and they usually close up on their own but hers didn’t. Then she had ASD (atrial septum defect), which is a hole between the chambers of the heart and that’s quite common in babies. Again, it’s supposed to clear up on its own, but hers didn’t. She was monitored for quite a long time and then when she was two, she had an operation to patch that at Great Ormond Street. So, all these things were little flags, but they were all kind of typical baby issues, and sometimes we were going, ‘Well, maybe her developmental delay is because of the heart issues, maybe her body is trying to work too hard to solve the heart problems, which is meaning that she’s not able to concentrate on other things’. We also complicated things because we lived in London when she was born and moved up to Cambridgeshire when she was six months, so we had to change NHS trust. GP notes go with you, but hospital notes are only on request, so not all the stuff came directly to the new hospital. So, we were probably a bit more delayed in being referred to developmental paediatricians than we might have been if we stayed in the same trust.

FLG: How were you approached for the DDD study?

Vaila: That didn’t come about until quite a lot later on. Once we settled into the new trust and she got her cardiology consultant, he thought actually, maybe developmentally, we may need to see someone else. So, we got referred to a developmental paediatrician when she was a year old. They thought there was something going on. Over the whole of her early years, she had chromosome tests, MRI scans, she had a microarray test (which is something the NHS can do) – but all of those came back within normal range, a range of what they would consider typical. Once they exhausted all the tests that are standard in the NHS, they then looked to these other studies. I think we were referred to genetics when we were doing the microarray test and the geneticists, when that came back in normal range, suggested this study. She was about two and a half at that time. It’s a whole genome thing so she gave a saliva sample, and we (both parents) gave one, and they compared our DNA against hers to see if there were any glitches that neither of us had that may have caused the issues. So, she was about two years old, and we got the result when she was about six and half, so it was about four years on that study. Obviously, the human genome is quite a big thing to look at, so it takes quite a long time! But we had almost forgotten we had gone on the study by the time the results came back because it was quite a long period.

FLG: What was going through your head during this time?

Vaila: At the same time as we went on the DDD study, we had not really been given much support. Where do go when you don’t really know? You can’t join a specific group for a specific condition. We were given a leaflet from SWAN UK (Syndromes Without A Name). We had not heard of them before, but we thought, ‘Well, let’s see what they are about’. And that was really helpful! Because up until that point, you don’t realise that there are other people in a similar situation to you. Until then, you think medicine knows the answer, so if they have not found something, maybe there isn’t something to find. But it turns out there’s lots of people who have very different situations but who are also not able to find a diagnosis. So, it was great to be able to connect with other people who are in a similar position and to realise that you aren’t alone, and you also aren’t imagining things or going crazy. You know you think is this us, what have we done, is it something we have done wrong? So that was really helpful! Then obviously, you treat the symptoms when you don’t know what the cause is. She was then referred to other specialities, like physio and occupational therapy, speech and language therapy, so we were able to begin to address some of the symptoms of her condition in terms of trying to help her achieve her developmental potential. We were very lucky with the nursery that she went to – they had quite good experience with children with learning disabilities and special needs. They were brilliant at helping us write the EHC plan that we needed to access better support for schooling later on.

FLG: Many families enter these big projects with the hope of getting a diagnosis – how did you feel about potentially not receiving a diagnosis?

Vaila: For us, it was almost philosophical, I suppose. We’re very lucky, and touch wood, that she doesn’t have any acute issues. So, she does not have epilepsy, which a lot of children who are undiagnosed have, or any other life-threatening issues. She’s got many developmental issues and there are things going on with her that we don’t really understand. I guess by that stage when we got onto the DDD study, we thought that it would be nice to know, but if we don’t know, then she’s a unique person and we just want her to reach her potential and we just have to get on. In some ways, it’s quite nice not having a label for people to have preconceptions about what our potential might be. However, on the other hand, having a label is helpful for other reasons. A) to access support and B) because there may be a research project that finds something about that condition that can suddenly make a difference for that person. I guess at that stage, we weren’t desperate for an answer, but we thought we would like one.

FLG: What was it like getting that diagnosis?

Vaila: It was kind of weird because we had almost forgotten. We got a letter, or email, and they just came out with it. In the letter, they said we have found this thing and we think it is in the KAT6A gene and we think this is the cause of Eilidh’s disability. I think that was right for us because what we could find on Google did kind of explain her – it described her. I think if the diagnosis had been something a bit more frightening with life-limiting connotations or the development of epilepsy or something a bit more of a worry, then maybe telling somebody in a letter is not right. I haven’t actually asked the geneticist if she made that judgement because she knew that it wasn’t going to freak us out. In some ways, it is more frightening getting a letter with ‘We think we found have the cause and we’re going to make an appointment with you in three weeks’ time’ and then you’re like, ‘Oh, what is the answer? We know you know the answer!’ It was great because we did not have that weird period of getting a letter then having to wait for somebody to tell you what it is. But I think if they were going to give you some frightening news, then face-to-face would be better.

FLG: After Eilidh’s diagnosis, did you receive support in terms of trying to understand the genetics and inheritance of the condition?

Vaila: We didn’t receive huge amounts of support. I mean, we did have a genetic appointment with the geneticist, but she obviously didn’t have that much information because there’s not much to know. We never got referred to a genetic counsellor or anything like that, so we never had any kind of pastoral support. I don’t know if that would have been helpful or not, it may have been – we don’t know because we didn’t have it. For rare diseases, you can’t not Google this stuff. The first thing we did was Google to see what it said. I know the medics don’t like patients Googling things, but I think for rare diseases, you can’t help but do that. In some ways, you are the one who has got time to do that. The doctors can’t possibly know the ins and outs of every rare disease. I think you become more aware that as patients, we have to become experts and be up to date with recent research because the doctors are not necessarily going to be able to follow all of that stuff, and if you want to get anywhere with it, you have to be proactive and advocate for yourself or your family member.

FLG: Since receiving a diagnosis, how do you think your daughter’s care, if at all, has changed?

Vaila: Not immediately, nothing changed immediately. It was just a new thing to write on the top of the letters instead of undiagnosed condition. But now, having a focus of what we think is causing Eilidh’s condition, we can keep up to date with bits and pieces, with research. It can be kind of tricky because, obviously, a lot of the research has been done over in the States. I guess they have more access to genetic testing maybe, I don’t know, and therefore have more people diagnosed, so there is a greater proportion of people over there. And the healthcare system is very different in the States, so it is quite difficult to try and translate how those ideas might work in the NHS. There are some treatments being used over in the States, and we broke those down and worked out which treatments would be suitable to try over here in the UK.

Eilidh is now taking a supplement that we would never thought to have tried had we not had the diagnosis. So, she takes a supplement which is to help her metabolic function and we were lucky that it is a supplement that’s already licenced in the UK for children with other different metabolic conditions. So, we didn’t have to try and fight to get use of a drug that was being used for adults, or that had never been licenced over here or anything. Even then, even though it was used for other metabolic conditions, it did take quite a bit of persuading for us to try it for Eilidh. We were keen to try it if there was no major likelihood that she would have side effects from it. We thought if there are no big side effects and it is just a supplement that will increase something we already have in our diet, then let’s try and see if it makes a difference. We do think it has helped. Since she has been taking the supplement, she is a little brighter and more engaged in things. We don’t know whether that’s just because her metabolism is better and her digestion’s better, so she is able to focus more because she is not struggling with digestion and whatnot. We don’t really know because there’s no proper trials being done. So, it would be really nice for our evidence of trying it to help inform future patients or help Eilidh going forward as well. I think we have been really lucky that getting a diagnosis has allowed us to try something new that we would not have tried before, and we think that new thing is making a difference!

FLG: Is this something you did through the doctors?

Vaila: We wanted to do it through the doctors because we thought it was important that it was logged, and dosages were correct, and everything. So, we had to pitch it to the doctors. We pitched it to her paediatrician and requested a referral to the metabolic or gastric team. It took a while. I think there were also changes in the team at Addenbrookes and there wasn’t a lead consultant for a while – it was all a big influx. But I think a new paper came out and I basically just copied and pasted the relevant paragraphs into one email, put loads of links in, and fired it to the geneticist and paediatrician and said, ‘Please can we see a metabolics person because it looks like this might be a thing.’ And they said, ‘Yes, let’s refer you to metabolics then.’ We were sent down to the team at Evelina Hospital in London. They were a bit sceptical of the research because there’s not much data or evidence and they were saying, ‘There’s not much data and evidence’, and we were like, ‘Yes, we know. That’s the whole problem, but we would like to try it as long as there is not likely to be any side effects.’ And they agreed to trial it. So, we did a three-month trial in the first instance and if we felt there was a change in her we would carry on. Now, we’re 18 months into the trial. So, it was basically me gathering my evidence and presenting it to someone and saying, ‘Please can we do this, because we don’t think it is a risky thing and you already use this supplement anyway and why not!’

FLG: There is an established KAT6A support group based in America – what value has this support group provided you with? What have been some the challenges?

Vaila: I think it would be really nice to set up a group over here but there are not that many families so it’s obviously a commitment for someone. I keep thinking maybe I should do something more, but I guess time – still not enough time! It is great to have the overarching foundation that is in the States, but we are an international thing. They have a website and a support group on Facebook so families can chat to each other and it’s really nice just to connect with people who are going through similar challenges. It is tricky to translate the way that it works over there, and people have their individual doctors, and they have therapists, and it all works completely differently.

But being part of that main international group did allow us to make connections with people in the UK as well. So, we’ve set up a Facebook group chat just with the families from the UK – so there is the main one and I presume other countries probably do a similar thing with a little subgroup that is UK-focused. That’s quite nice as well because then, between us, we can try and translate this research and tap into it over here and see how it could benefit our children in the UK. And the other thing is there’s another condition with a very similar name – KAT6B syndrome, which I had wondered whether that was a connected thing because of the names being very similar. Does it happen to be a neighbouring gene, or do they work together? It turns out that the overarching foundation have decided to support both KAT6A and KAT6B, so that suggests that they are related conditions. So, again it might be nice to combine with people that have that condition in the UK and then maybe strengthen our numbers and therefore have a stronger voice here in the UK and advocating for our kids within the NHS system.

FLG: Living with a child with a rare disease for many parents means they do not have a lot of spare time. How can organisations and/or the government ensure that these families receive the correct support?

Vaila: It is tricky. I have not committed to doing any extra time in setting up a specific KAT6A syndrome group just because of time. But we’ve been really lucky in a way to not have been diagnosed for such a long time because we had a lot of support from SWAN UK, who are part of the Genetic Alliance, and they do quite a lot of work with the government in terms of rare and undiagnosed conditions and policies and things. Then, more recently after Eilidh was diagnosed, we met the team at Cambridge Rare Disease Network (CRDN) and joined their community group, Unique Feet. So, we’ve had lots of support from the more general side, more rare disease rather than specifically KAT6A syndrome. I think in some ways that can be more powerful because the whole rare disease community has a much stronger voice than individual syndromes trying to fight to be heard.

At the moment, we are more comfortable helping to try and raise the whole voice. I guess it is more about trying to improve coordination and care pathways for anyone with a rare condition and making sure that everybody gets access to a coordinated service. So, if you do find yourself needing access to different disciplines, like we were desperate to get to see the metabolics team, that somebody could help enable that for you. And maybe it doesn’t work out for that particular syndrome, but at least you get somebody trying to coordinate things that might work for you and then get a proper care pathway together for you. That’s been quite useful and powerful and I’m keen to continue to try and help achieve that. I don’t know how we do that but it’s stronger together!

FLG: What have you learned along this journey that you would share with other families?

Vaila: I think it is about trying to find those other people because finding that you’re not the only one is amazingly powerful. Because I think you do find yourself lost a lot of the time, or confused, or thinking, ‘Is this a real thing I need to be concerned about?’ And being able to ask somebody else who has a similar thing is really helpful. I think even when you are a part of such a diverse community, like the rare disease community or the undiagnosed community, and everybody has very different symptoms lots of the challenges are the same. Like accessing care through the NHS or accessing education, all the hoops you have to jump through and the documents you have to fill in – they can all be very similar. So, I think just reaching out to people, not necessarily with your same condition if there aren’t any local groups that you can, has really been helpful for me. Then if you are in a bigger group, like SWAN or something, there’s lots of people who are very different and you get different things from those people, but then there are those people with similar issues. Like, ‘I need a new wheelchair, but I don’t want one that does this – does anybody have any ideas on what to look at and where to go?’ There’s always someone that has some advice that can come and help you. So, I think it’s finding other people that you can have solidarity with and help each other and support each other, or even just to listen to each other if you can’t necessarily do anything practical but you can just hear each other.

FLG: Thank you so much for joining me today, Vaila, it has been great speaking to you and I hope this interview can help raise awareness about KAT6A syndrome.

Vaila: Thank you!