Jared Griffin is the Founder and CEO of Anabelle’s Challenge, the UK’s leading charity for Vascular Ehlers-Danlos Syndrome (EDS). In 2012, Griffin’s daughter was diagnosed with vascular EDS, a rare connective tissue disorder. The following year Griffin set up Anabelle’s Challenge which became a registered charity in 2014 and won the Queen’s Award for Voluntary Service in 2018.
Please note the transcript has been edited for brevity and clarity.
FLG: Hello, everyone, and hello, Jared. Thank you so much for joining me today for the latest Patient Perspectives as we highlight patient voices and the impact that genomics is having on patient lives. Today we are joined by Jared Griffin. So, if you could just introduce yourself and tell us a little bit about what you do.
Jared: I’m Jared from Annabelle’s Challenge. I run the charity and I set it up in 2013, and we support people with vascular Ehlers-Danlos Syndrome, or vascular EDS for short.
FLG: Your daughter Annabelle was diagnosed with vEDS in 2012. For those who don’t know, would you be able to explain what it is?
Jared: Yes, it’s a rare genetic condition. We estimate that it affects around 740 in the UK. We’re aware of 300 on our database at the moment with it. It’s a connective tissue disorder. COL3A1 is the gene that’s affected by it, and there’s a 50% chance of it being passed down. But in our scenario for Annabelle, it started off in her as a mutation.
FLG: When did Anabelle first present with symptoms?
Jared: Probably since she was born, we found issues. But the one thing that was more prominent was easy bruising, unexplained bruising. So, you could touch her, for example, changing a nappy and leave a handprint, which was clearly very unusual. But it was the unexplained ones, where you’d literally see a bruise and have no reason for it to be there. Her skin teared quite easily. And over the years, her pain threshold seemed to be different. So, she’d have a gash to her head and just not feel pain from it. So, we knew something wasn’t right. And because we have got two older boys to compare with and we didn’t have those issues, we knew there was something then with Anabelle.
FLG: What was the process like to get a diagnosis?
Jared: Three years before we got the definitive answer to the question. So, at the start of the process, it was suspected that she had von Willebrand disease and that’s the path that we went down in terms of care and looking out for. We assumed at that point that that was it, it was just von Willebrand, and let’s get on with life. But it was only sort of three years in that indications pointed towards vascular EDS as being a possibility. And subsequently, she was diagnosed in December 2012.
FLG: What tests were undertaken?
Jared: I remember vividly the skin biopsy that she had as part of the genetic testing. And that was an experience for her that was painful. But for me to watch her going through that wasn’t nice. But I said to her, we need to do it to get an answer to what’s going on with you. But at that time, I thought, is this going to come back and it’s not that condition and then we’ve got to carry on down the journey of looking for answers, but it turned out that it was vascular EDS.
FLG: How did you feel getting a diagnosis?
Jared: On one side, the sort of negative side, is when you look at what the condition brings with it, it’s almost like living with a ticking time bomb, not knowing when something medical is going to kick off internally. And ultimately, will it take someone’s life, which it has done. But on a positive note, you’ve got an answer. You can then put things in place, you can manage the condition and live with it. So that was the bit that I got from it is, actually, as even the consultant said, it is the same Annabelle that walked into the room 30 minutes ago that you’re going home with. You’ve just got to manage what it’s like living with vascular EDS – and that’s what we did!
FLG: What was known about vascular EDS at the time? How did you educate yourself about the condition?
Jared: There was very little known, apart from the obvious route to go down Google and then you see all the horrific stories that are there. And we did that during the diagnostic phase. So, it was a very frightening experience. And I think for any individual going through the diagnostic phase, that’s probably the most concerning and upsetting period of time. I think post diagnosis, you get to adjust to having that condition. But very little was known. So, we reached out with Annabelle’s Challenge as a thing for Annabelle, really, just to build up a picture of what it’s like to live with it. But then when people were reaching out, who also had the condition, we then decided we need to raise more awareness and get more out there on the condition.
FLG: What kind of support did you receive from clinicians and doctors at the time to help you understand the diagnosis?
Jared: The EDS service was great support, even to this day, even more so now! That bit was absolutely fine. They explained this is what it will be like living with the condition, these are the precautions that you need to put in place. And we reached out to EDS Support UK at the time, but they more predominantly focus on the more common type of EDS, the hypermobility side. And vascular was a very small chunk of what they did. I think soon after, we realised that we needed to set up something that really just focussed on vascular EDS on its own. And that’s what we did.
FLG: You set up Anabelle’s Challenge in 2013. What was the journey like? What were the challenges you faced?
Jared: We never intended it to be a charity. It was always at the start to raise a bit of awareness, focus on Annabelle because it’s our daughter and let’s do Annabelle’s Challenge because growing up with Annabelle, we know what it looks like. But within sort of six months, a good friend of ours said, ‘I think there’s more to it than this. There’s a lot of people reaching out to you now across the globe with the condition’. And that following was building and building, so we decided that we’d go to the press with vascular EDS and what Annabelle’s Challenge at the time was, and it just sort of kicked off from there. And a year later, we became a registered charity. And it was not intentional, but I think because more families were then getting involved, it just felt like the right thing to do. And then we moved away from it being all about Annabelle and actually, it’s about the people out there that live with this condition. And the direction changed, and we then became the UK charity for it.
FLG: What are some of your favourite success stories since you launched the challenge?
Jared: Quite a few! I think working alongside the EDS service and the relationship that we’ve got with both the clinics has been a great success story. All the volunteers that support the charity and work with us and the families that have got the condition, which ultimately got us the Queen’s Award in 2018. To where we are today with the vEDS programme that we’ve launched and the research projects. So, it’s been building at quite a pace now.
FLG: Would you be able to discuss your work with the EDS services a bit more?
Jared: We jointly hosted a conference back in 2017, specifically for vascular EDS, with EDS UK. And it was our EDS service that provided the talks and the genetic counselling sessions at that conference. We had about 40 families attend. So, it was the biggest first ever gathering of people with vEDS and their families that had ever been undertaken. And I think from then on, things started to change in terms of what the families wanted in terms of support. The EDS service was very much involved with that process. To where we are today, with our Sheffield clinic where I am based in the joint EDS service clinic, so that when patients go for the cardiology appointment, after that appointment they can come and see me and have first-hand touch with Anabelle’s Challenge at the clinic. And we’re planning our next conference for next year. So, both clinics we work really closely with!
FLG: You launched a campaign called REDS4VEDS in 2015 – would you be able to discuss this a bit more?
Jared: In 2015 somebody with EDS hypermobility reached out to us – Evie from Ireland, and said, ‘I’d like to do something and work with you on coming up with a campaign’. She personally has experienced somebody passing away with vascular EDS, so that’s where the connection came in. And after much debating on what that looked like, this simple hashtag came out and it was #REDS4VEDS. And because back then, as it is today, if you use that hashtag, we can follow people’s posts and reshare those pictures to try and just raise a bit of awareness and turn the world red for one day. But over the years, it’s just continued to grow right across the world. So literally now the full day, the amount of pictures that are getting shared! And money that’s being raised off it as well now, which was never the intended plan, but it’s actually become an annual fundraiser. So, it raises a lot of awareness for the condition, brings people together and it is on the third Friday of every May.
FLG: Where does the money go that you raise?
Jared: It helps us fund the support programme. So, we’ve got a helpline, we’ve got patient coordinators, and we do ambulance marker setups for people and help liaise with GPs. So, it’s like the vEDS support programme in its entirety. But also, research. So, we have funded some research out of the Northwick Park Hospital clinic, and we’ve got more projects down the line. So, it’s basically two things where we support families. It helps fund that, but also now research.
FLG: Would you be able to discuss some of the research that is coming up?
Jared: Yeah. So, we funded the Northwick Park project and that’s opened up some subprojects in terms of looking at pregnancy and the effects of vascular EDS there. And we got involved with a psychosocial study that was done by a student genetic counsellor, which has just been finished in the last year. We’ve got one currently that’s going on with student genetic counsellors. But a big one that we’re getting involved with, from trying to recruit into it, is a clinical trial that’s coming up in six months. It’s not funded by us – it’s a pharmaceutical company that’s behind trialling a new drug. But we will help with the recruitment of that with the database that we’ve got.
FLG: What is being explored in the clinical trial? How does that compare with the current treatment?
Jared: Yeah, so the current treatments are beta-blockers, which is losartan and celiprolol. The new one, enzastaurin, is potentially going to stop what could be causing the effects of vascular EDS. It’s already been used for other conditions and so it’s already had a trial with 3,000 participants. So, when this trial does start, it will be at phase III on a drug that is safe. It is working well in the mouse models. Hopefully, they can get that to replicate in humans. So, very promising signs from a study point of view. Children will be able to participate. It’s a global trial so the UK can be involved, and we look forward to that.
FLG: What has it been like for you working across the community – from patients to researchers and clinicians?
Jared: For us, and something that will never change, is what we put in as a name from day one, is to support families and that will never go away. In fact, we will always look to try and improve what we do to support families. So that’s first and foremost what Annabelle’s challenge is all about. Research for us was always a backburner because we always knew it was a big investment and a lot of hard work. But over the last two years, suddenly researchers really cracked up and caught us out really. We had three- and five-year strategic plans and research was always at the back end of it. One, because we wanted to support the families first. But now, like I said over the last few years, research is really kicking in. And for us, the big-ticket clinical trial one is great, but also the smaller ones that are looking into what it’s like living with this condition – the psychosocial issues, the day-to-day stuff. So, it’s great having the big ones to hopefully find a fix for vascular EDS, but also the low-lying fruit where we can try and help improve people’s lives right now.
FLG: What support has this charity provided you and your family with?
Jared: I think for us, it’s being around others who are also affected so we don’t feel alone. I think that’s one of the things that was quite humbling at the start. We never intended to be a charity, or a patient organisation, it was just an awareness project. But we saw many people reaching out in the early days. It was, like, well, we’re not alone. So, we felt comfort from that, but then felt we had a duty to take this forward and change what we were doing, and then also become the charity for the condition. And I think it is the support that we get back from the people – that support is really bizarre. We get a lot of comfort from that. And it helps me and our family and Annabelle knowing that there’s others out there that are in the same boat – we’re just the ones that are fighting for it.
FLG: Have you seen a global involvement?
Jared: Yes, we have a big following from the United States – very supportive following both engagement, awareness, fundraising. And we’re looking after Australia now. So, we’ve teamed up with Medical Australia and we treat them exactly the same because the programmes are very similar. So, we’ve got a little Australia bit! And we reach out across Europe. So, whilst we’re a UK based charity, we very much welcome anybody across wherever they are – we’re all in it together! And, and our feeling is if we can find a fix somewhere, it will fix it for everybody with vascular EDS. So, we treat it as one.
FLG: Have you noticed that since you launched the charity, and with advanced technologies, that there have been changes or improvements in time to diagnosis for patients with vEDS? And also, within care management?
Jared: Yeah, I think we still got those individuals that are out there aged 40+ and have not had an event, and have got the condition of any rare disease, until something happens, and then you start asking questions as to why it’s happening and then ultimately, you get a diagnosis later on in life. But what we’re seeing now, because the awareness has improved dramatically, and I think that is thanks to technology, our relationship with the two EDS clinics, that more younger people are coming through and being diagnosed. And the time it takes to get a diagnosis is much improved. And so, what we’re finding now, certainly on our database, is a quarter of it is children that have been diagnosed, which for us, with technology that is out there, we’ve managed to adapt our programmes very quickly in terms of, right, what do we need to put in place for school support for these children and explaining what it’s like living with this condition within a school setting. And online virtual support, which we’d never thought would kick in, and certainly over the last 12 months, has been really helpful.
FLG: What do you think kind of needs to be done to improve time to diagnosis for people with vascular EDS? But also, what needs to be done to improve their management of care as well?
Jared: From our perspective, it’s carrying on working on education and awareness so that we can catch people as early as we possibly can. Because if anything positive out of a diagnosis of this condition is then managing it. And that’s what we do with families, is hold their hand basically and say, ‘This is what we need to put in place, you can live on.’ We’ve got people in our database aged 60/70+, and yes, we do lose people at a younger age, but if you can get behind the management side of it, we can make precautions to try and avert medical events from happening. That’s key for us.
FLG: Do you work with individuals or organisations exploring other forms of EDS?
Jared: Yeah, so we work really closely with EDS Support UK. So, if we get any inquiries coming in, and it’s more about hypermobile EDS, we will then refer them back to EDS UK. Likewise, if they’re getting inquiries from somebody with vascular EDS or suspected of having it, that comes to us. Any of the rarer types, we reach out to them if it’s not vascular EDS. And then over types of rare diseases, if it ever does come our way, we then work with people like Genetic Disorders UK, that is becoming Genes People, FindACure. So, we will work with other organisations where we can!
FLG: What do you think needs to be done to provide individuals or families with rare diseases more support?
Jared: If you’ve got a condition that has an organisation that represents that disorder, then that’s the route to market in terms of patient voice. And if that organisation has got a steering group, if it can survey its members to help engage the community, that is a big bonus. Where that’s not the case, and it’s a rare disease with no organisation, then it’s reaching out to people like FindACure and Genetic Disorders, because then you’ve got some way of getting in contact with people that have got genetic counselling support, that can sit within parliament in terms of trying to get rare disease high up on the agenda.
FLG: How can we ensure more patient voices are heard? Where do you think patient voices need to be heard most?
Jared: The biggest area of concern that we come across is awareness amongst clinicians in general. And I think that’s for any rare disease. But in particular, the one that we represent is where people have heard of EDS, but this is the vascular type, this is the worst type – life-threatening – it is different to what they’ve probably come across. So that’s where you are lucky that somebody has heard about EDS within the clinical setting. And the biggest area of concern is things like in A&E. So, with this condition being life-threatening, it is about whether that knowledge is there, and patients not being listened to. And I think as these younger doctors are coming through, it is improving. But we’re a long way to go from the patient voice being understood. And I think the way the NHS is going, it is getting better, so there is a realisation that the patient voice is very important.
FLG: What is the future for Anabelle’s Challenge?
Jared: For us, it’s continuing, and where we can improve, in what we do to support families that are affected. And to raise awareness amongst the healthcare setting and research. I think the two things for us is support and research!
FLG: Thanks for sharing your story with us today Jared – keep up the amazing work you are doing at Anabelle’s Challenge!
Jared: Thank you.