Nina Knight is a mother, advocate and Chair of the Acrodysostosis Support & Research Charity. Knight’s daughter, Lily, was diagnosed with a rare bone disorder known as acrodysostosis. After Lily’s diagnosis, Knight actively searched for a community and came across a Facebook support group. Years later, this support group has turned into a registered charity – Acrodysostosis Support & Research. This is a group of patients, families, friends and researchers who are interested in learning more about this ultra-rare condition.
Please note the transcript has been edited for brevity and clarity.
FLG: Hello, everyone, and hello, Nina. Thank you so much for joining me today for the latest Patient Perspectives as we take a look at how genomics is impacting patient lives. Today, we are joined by Nina, whose daughter was diagnosed with a rare genetic condition. So, Nina, if you could just introduce yourself and tell us a little bit about what you do.
Nina: My name is Nina Knight. And I, as Shannon said, have a daughter with an ultra-rare genetic disease called acrodysostosis. I’m a parent of two children, Harry and Lily. Lily is the one that has acrodysostosis – she’s nine years old. And as a result of finding out that she had this rare disease, we found a Facebook support group. And then from there, we’ve set up a charity to set up a patient registry, with the idea to promote research. And our aims are to get treatments, and ultimately to get a cure.
FLG: Your daughter was diagnosed with acrodysostosis. For those who don’t know, would you be able to describe what this condition is and what are the typical symptoms?
Nina: Yeah, so acrodysostosis, as I said, is ultra-rare genetic disease. And it is described as a bone dysplasia, but it basically affects every system in the body. It’s quite a hard one to describe. And we, actually, through our community have collated a list of more than 160 medical issues that are related to acrodysostosis and our children. They range from intellectual disability to hormone resistance. There’s loads and loads of physical stuff that happens to our children. They have to have lots of surgeries. As they get older, they live in a lot of pain. Even when they’re children, they live in a lot of pain. There’s a lot of surgeries related. I suppose an example of one would be that their bones fuse, so one leg will stop growing. So, they have to have leg lengthening operations. They have a lot of spinal problems, so stenosis, scoliosis, and of course, to rectify that, they have to have surgeries. A lot of children end up in adult life in wheelchairs, because their mobility is very limited. It sort of affects everything. So, speech and language. There’ll be under lots of different disciplines like physiotherapy, occupational therapy, speech and language – the list is endless. They’ll see lots and lots of doctors through their lives, and they’ll have lots of hospital appointments and lots of surgeries. Yeah, I suppose it’s quite a hard one to describe because it affects so many things!
FLG: When did your daughter first present with symptoms? And when did you think that maybe something might not be quite right?
Nina: I suppose it started, I was thinking about this yesterday, when I was pregnant with Lily. They thought that it showed some sort of markers. They thought perhaps she had Down syndrome. So, we did a test for that, and it all came back clear. And I understand this now that they only test for not that many genetic diseases when you’re pregnant. So actually, there’s lots and lots of rare diseases that won’t be picked up if you have a test when you’re pregnant. But I’m really glad that they didn’t because, I don’t know, I wouldn’t have wanted to make any decisions one way or the other. And I’m so happy that we have Lily. So no, they didn’t pick it up. But it was a very difficult pregnancy due to that because I had to go to the hospital every single week to have scans. And then eventually they induced me because she was so tiny, and she wasn’t growing. But then she was born and that’s when I realised that something was different about Lily, physically. She had features that were slightly different. And her hands and her feet were really tiny. So, it was kind of subtle and, actually, I knew instantly, and my husband knew instantly, but then we sort of said this to doctors. And because she was growing, so she was born at four pounds, she grew quite quickly. So, everyone was quite happy that she was a healthy baby. But we were worried because we just thought there’s something quite different. And so, we did spoke to doctors, and we’d have comments like, ‘well, babies come in all different shapes and sizes, don’t worry about it’ and would be sent us off. And I just remember it was a really difficult time because I would go to mother and baby groups and feel really alienated because she wasn’t doing the things that other babies were doing and I knew there was something quite different.
And eventually, her health visitor came and did her eight-month check and realised that she wasn’t holding her head up and she wasn’t sort of doing the things that a typical child would be doing at her age. I was just so grateful to that woman. She referred us to genetics. And then when we met the geneticist, she actually misdiagnosed Lily. And for two weeks, we thought that Lily had – well, I didn’t think it because I didn’t Google it, but my husband did, because the doctor said, ‘Don’t Google it until I’ve got a proper result for you, but I think it’s this other rare disease’. And my husband Googled it and actually thought for two weeks that Lily had a life-limiting rare disease, which was really upsetting. But then the great thing was that when we found out she had acrodysostosis, we were quite happy because it wasn’t the other thing. So actually, she probably did us a favour! Eventually, after a few weeks, she said, ‘No, I think it’s not this, I think it’s acrodysostosis’. And at that point, she was just clinically diagnosing Lily from what she’d seen and what she’d spoken to colleagues about, et cetera. And Lily’s blood tests went to France. And when Lily was two years old, we got her molecular diagnosis from Paris. And we were very fortunate because in 2014, they were able to molecularly diagnose children with acrodysostosis and that hadn’t been possible before, even though the disease had been around for about 40 years or been identified for 40 years. So, we were very fortunate. And yeah, to get a diagnosis at two years old is very lucky in this sphere.
FLG: What was it like for you to finally get that diagnosis?
Nina: It’s sort of, I’m sure other parents would feel the same, you’re actually really relieved, very relieved. And then you’re just a bit sad. I mean, there’s all sorts of emotions that you go through. I don’t feel like this now, but you can describe it as a sort of grief, that you’ve been worried for a long time and then you get the diagnosis and the reality of that sort of kicks in, and you have to mobilise and work out what life’s going to look like with that diagnosis. But it was really good because it meant that we were really brilliantly supported through our local community, in terms of an amazing facility called Sunshine House that was just on our doorstep, where Lily was able to go for speech and language, occupational therapy, hearing tests, physiotherapy, and I met other of mums who were in a similar situation to me. So that was amazing. And also, of course, then suddenly Evelina and Great Ormond Street Hospital Hospitals were looking at other things to make sure that there weren’t any other underlying health issues that we needed to be worried about with Lily. So, it was a sad time, but it was also a very good time in the process.
FLG: How much was known about the condition at the time? How did you teach yourself?
Nina: Yeah, I mean not much was known. And of course, you know, you look online and you’re trying to find information. I think we were sent home with like a two page, like not even a leaflet, it was a published bit of research. And it was so vague. And it also had some quite bleak information on it. And so, you didn’t know whether that applied to your child, and we didn’t know any other families. So, we didn’t know – does this apply to Lily? There was hardly anything. And, actually, it wasn’t that we didn’t have them, there was nothing out there. I think that’s obviously why they did loads of tests. So, they were doing their stuff, but not because they had any knowledge about what the condition meant or what the future held.
FLG: How do you think that knowledge has changed now?
Nina: Oh, I mean, it’s amazing. It’s not that there’s any more information out there, it’s more that because we found this community, our Facebook support community, we have a number of families that we have access to who’ve got ranging ages of children. And so, we’re able to share information and that is gold. This is not information that even the doctors can tell us. They say things like, ‘Well, it might be, but I’ve only ever seen one other case, so I have no idea whether that’s actual information or data, or whether that’s just an anecdotal thing that’s not related to acrodysostosis’. So, that’s how the information has evolved. But not because there’s anything out there in the public arena.
FLG: How did you get involved in the acrodysostosis support group?
Nina: When Lily got first diagnosed, we asked to see a geneticist who might have met other families. We thought it was really important to meet other families as it is so rare, and there wasn’t any other information out there. So, we saw geneticists at Great Ormond Street, and I will never forget what she said. She was just looking at Lily and saying (it was all a bit vague actually), ‘Well, she seems to be doing okay’. And then we were like, ‘okay’, because I don’t know why you always think you’re going to get answers, but you don’t. There are no answers to be had. It’s about going out and finding them. But anyways, at the end of the consultation, we said to her, ‘We would really love to meet other families. We believe that you may know some in the UK, because you’re the only person here that knows other people’. And she just turned around and said, ‘I can’t see any value in you meeting other families. It’ll probably just upset you’. And so, we were like, ‘What?!’ And actually, it was my husband, not me, defiantly went home and just started Googling to find people in the world. And brilliantly, it’s just funny, isn’t it, the power of the internet, we found one family. They were in Australia. They had set up a Facebook group and their Facebook group, which was a support group for acrodysostosis, had two members, which was the husband and wife, and it was for their daughter. So, there was basically one patient! We found them, and then other people found us and we all sort of evolved. I think when we got to 26 people, then a geneticist came and found us and that’s when things started to get a bit more interesting with regards to where we are now.
FLG: There is an acrodysostosis charity now, right?
Nina: Yes, that’s right! So, the Facebook group was our support group when we got to, as I said, 26 members, a geneticist from Spain found us and she said, ‘This is amazing, we’ve never seen as many patients in one place, we’ve been working on a consensus statement for the diagnosis and management of PHP disorders and related disorders’. And we were in the related disorders. So, we were just like tagged on the end of this consensus statement. And she said, ‘We’re going to be in Paris for three days and we’re going to be discussing this statement so that it can be published worldwide, and everyone can see it and know about the diagnosis and management of these diseases. Would anybody like to come?’. And my husband and I were like, ‘We’ll go!’ So, we went to this three-day meeting, and there were 38 different experts that we met at that meeting. And it was amazing! And we sort of went with a whole list of questions that we were going to ask them about acrodysostosis, thinking that we were going to get answers. And actually, what we realised is that the experts with regards to a lot of rare diseases don’t have the answers. And we actually realised that we, as parents and as patients, hold the information, and what we need to be doing is sharing that information with the experts worldwide so that they can go and do research with that information. So, we came back, and I thought, ‘Okay, what are we going to do!’ I realised that this Facebook group that we’ve had for the past year or so, has got all of this lovely information. Everyone goes ‘do you know this, what happens when this’, and everyone gives their answers and all that. It’s actual proper data, it all just gets lost in the Facebook ether. So, I thought, ‘Right, we need to get that information into a patient registry and that way, doctors can have that information and then they can use it to do research and to find treatments’. So, that’s why we started the charity, so that we could be more official and do it properly. And we’re now about to launch the patient registry. But there’s so many other things that have come from having a charity. We’ve just partnered with Great Ormond Street Children’s Charity and Sparks to fund a researcher, which we found one, we’ve raised the money for it. Great Ormond Street have contributed, I think their portion of it is £175,000 and we’ve done the other 25%. We’re just about to do a three-year research project into acrodysostosis and they’re talking about within that research project possible treatments for people affected by acrodysostosis. So, it’s amazing!
FLG: What have been some of the challenges from setting up this charity?
Nina: A good question. I was trying to think about that. And maybe I’m just ridiculously positive. I’ve worked in business and things throughout my life. Everything has felt quite hard. But weirdly, this has felt quite easy. I mean, it’s hard work. I suppose the challenge, we do applications, and then we have to write about our children, we have to get stories from case studies from other parents and then you read that and then actually the reality of what our children are going to go through and what they are going through. Personally, for me, that is a challenge. I find that very hard. And I think that’s when I have to say it’s hard to separate running the charity with thinking about why you’re doing it, like the personal reasons for it. But so far, touchwood, nothing has been that much of a challenge. I feel really grateful and fortunate. And we have an amazing community, especially with the fundraising. They were incredible. I suppose another challenge is we are very small, so it’s like, who cares about 100 patients? So that might be a challenge. But we’re ignoring that and we’re steaming ahead!
FLG: As you said, you are a small charity. What has it been like for you trying to get funding?
Nina: When we did our fundraising for the Great Ormond Street partnership last year, we didn’t even think when Great Ormond Street did the national call out to the whole of the UK and said: ‘Are there any researchers that are interested in doing any research with acrodysostosis?’. We thought, ‘We’ll put our names down for it, no one’s going to want to research it.’ Four researchers came back! So, we were like, ‘Oh, my God, now we’ve got to raise the money.’ So, we thought we’re going to divide up the responsibility. So, I recruited 70 families to raise £1000 each, and they were amazing. So, this is our families plus friends, et cetera. We got 70 families to raise £70,000 and we did it in 20 days. So, we raised it through a crowdfunding exercise. And so again, I’m sure that if I was doing, maybe, funding applications, that might be a bit more difficult, because it’s quite competitive out there. But in terms of our very limited experience so far, I’ve been absolutely blown away by our acrodysostosis community galvanising, and just getting out there and raising funds. But also, that it was an amazing project.
FLG: I saw recently you got Olivia Colman involved to try and help raise awareness. How did you get her involved?
Nina: So, she’s a neighbour of ours, or was a neighbour of ours, and a very, very good friend of a good friend of ours. And our friend was just like, ‘I’m just going to ask her’. We wanted to make it funny. We actually wrote a little script for her, and she was so brilliant, she was like, ‘Of course I’ll do it, absolutely’. And she was really up for doing the script. And we wanted to put a little funny thing in. She said she wouldn’t want to do it – she’s too lovely. We were going to put something in about her Oscar, but she decided she didn’t want to do that. But yeah, we just basically asked. I think other people will agree with this, especially in these tiny little charities that we all run, that you kind of pull in favours and you ask, and actually, generally, people are so lovely. And especially because I suppose all of our funds, everything we raise, it’s not like I’m getting a salary, or anyone that’s volunteering or helping or assisting or our shop. Every single penny that we raise goes straight back to research. So, it’s quite a tangible thing, isn’t it? It was so kind of her, and she was so gracious and just brilliant that she agreed to do the funny script.
FLG: It’s really funny. Why do you think that patient voice is so important in raising awareness? And how can researchers and organisations ensure that they incorporate patient voices more?
Nina: And, yeah, good question. I think the patient voice is completely vital. So, I’m speaking from a sort of rare disease perspective, and without the patient voice, often the medics don’t have the information. They don’t have the experience of something. I know it wasn’t like this in the past and I know that researchers and medics were very separate to the communities that perhaps they were researching for. But I think now everybody’s understanding that there’s a massive benefit from that sort of symbiotic relationship where the researchers are giving something, but the patient can also provide, like I said at the beginning of the conversation, golden information that you wouldn’t be able to get just by looking at the papers that have been published or the couple of patients that you’ve met in your lifetime. I think it’s vital!
FLG: What has it been like working with researchers?
Nina: Going back to when we went to the consensus. Obviously, we met 38 experts all at once, that was brilliant. So, after that, I went back to the six people that knew the most about acrodysostosis, and I approached them and asked him to be part of our medical team. So, they are clinicians as well as researchers. And they very brilliantly have all said yes, so they’re part of our medical team. We do a lot of work with them and if we’ve got questions. We’ve not done massive collaborations yet, but I know that they’re in the background ready to help whenever we need it. And I know that they will really help with the patient registry when that’s launched this year. And then in terms of the research, for example, the researchers that applied for the Great Ormond Street funding, they’ve been so open to speaking to us, hearing the information that we have. I think actually in their application they used information that we provided to them so that they can have a better understanding of acrodysostosis. So far, my limited experience of working with researchers, I found them all to be really receptive, and really open to working with patients and with patient organisations.
FLG: Just looking ahead, what are the future plans for the group? And what are your hopes for the future?
Nina: So obviously, we’ve got the Facebook group, which is more of a support group. But in terms of, of the charity, that is all about getting the research started. And then also, I suppose the main aim is to get treatments – we’ve got no treatments at the moment. And just to begin with a better understanding of the disease, but also from there, to get treatments so that our children aren’t sort of facing a life of loads and loads of surgeries, and later in adult life, having lots of pain and just genuinely not having a very good quality of life. So, that is definitely our aim. We’ve already signed up for next year’s Great Ormond Street national call. So hopefully, there will be another lot of researchers out there that want to look into acrodysostosis.
FLG: Are there any misconceptions surrounding the condition that you would want to address?
Nina: Yeah, I’d say, which is something we’re working on at the moment is that, for example, our children do not present as neurotypical children. And so, they have a very high pain threshold, for example. So, if they go to A&E, and they’ve broken a bone, often a parent will be dismissed because they’re not convinced that there’s anything wrong because the child’s not really screaming the hospital down. So that’s one misconception. Our children, although they have lots of issues with speech and language and other things like, some children that can’t talk, can read and write. So obviously within society, they’re treated differently, and they are underestimated because they’re all bright, even though they have intellectual disability. They’re all super bright. I suppose that would be a misconception that we’d like changed.
FLG: Thank you so much for joining me today, Nina. It’s been great. Thanks for sharing your story and I really hope that this interview helps to raise some awareness of the condition as well. So, thank you so much.
Nina: Thank you, Shannon. Thank you so much for your time.