Member Organization: EI Cure Project
Member Since: January 2024
Country: Switzerland and UK
Summary:
The EI Cure Project was first founded as a Swiss Association in April 2023. It is now a global not-for-profit organisation in Switzerland, the UK, the US, and Canada that includes patient advocates and world-class gene-editing researchers collaborating together to find a cure for Epidermolytic Ichthyosis (EI). The EI Cure Project includes a global team of ambassadors, board members, charity trustees, and an EI support group, and we all work as volunteers to raise funds for research to find a cure, connect those with EI, and help provide educational resources on EI. Together we represent and support our global community, united to find a cure for EI.
Get to know more about this organization below!
Thank you to Helen Lill, Founder and Head of Research at the EI Cure Project for sharing her stories, insights and the work of the organization.
What would you like to share about your organization?
I have a 20 year background in healthcare (Radiation oncology) and health services research, and for most of my life I’ve been affected with moderate to severe eczema, so when my husband and I discovered that our third child had a very rare and severe skin disease, I expect I had more of a headstart on figuring things out than most parents do. Having such a rare condition meant that most of the care advice that we were given for our daughter didn’t work too well, and that means that we were thrown into quite a large abyss of searching on Google to try and find out what to do instead. When our daughter was 5 weeks old, I decided to track down other people with EI, and through the power of social media, we created a new support group that was exclusively for people affected with EI.
Over time, I learned a great deal from other parents and affected adults, but I also used my healthcare and research skills to find the clinical evidence-base to support what I was doing. Part of my professional clinical role in radiation oncology was to write treatment protocols and operating procedures, so it felt like second nature for me to turn my research into care recommendations for newborns and infants. I gave these to new families who found our support group, and they had success with it too, so much so that their dermatologists were often surprised by what they were seeing during routine check-ups. That’s not to say that they were cured in any way, but following the care recommendations definitely helped reduce the symptoms enough to make life much more comfortable.
The reputation of the support group grew, and eventually I was asked to co-host a webinar about EI by the director of the UK Ichthyosis Support Group (ISG) Charity. We invited all our support group members, and the ISG had invited two prominent scientists in the field of ichthyosis and gene-therapies to deliver presentations about EI. The webinar was a great success, and I was delighted to get some facetime with these wonderful scientists. I asked them if we should just sit back and wait for a cure to be found, or if it was better to be proactive. After the session, they asked to meet with myself and the other co-hosts, and we talked about new gene-editing technologies that offered a great deal more promise of a cure for EI. At that moment, I realised that being a healthcare researcher and a support group leader was not enough. If I wanted to affect real change for the EI community, I also needed to become the founder of a not-for-profit organisation with the explicit purpose of raising funds for research.
This is how the EI Cure Project began, and I could not be more convinced that this is exactly what I was always meant to do. Thankfully, I have an emphatic group of people around me from the EI community that volunteer their time and energy to the project.
We are still very much in our early days as an organisation, but we have been up and running for just under a year now, and we are already making great progress with our fundraising and we are steadily expanding our research team to hopefully ensure not only that we do find a cure, but that when we do, it’s something that can be accessed from multiple locations around the world.
In summary, whilst our not-for-profit organisation is still very young, it was founded upon an already well-established support-group community that has always aimed to build bridges between the patient community and their healthcare professionals.
What do you consider to be your organization’s biggest accomplishment and success?
For any organisation that seeks to find a cure, I think it’s really difficult to measure success until you’ve achieved that ultimate goal of finding a cure. However, my team and I are really proud of what we’re doing, because we know that we’ve become a lifeline for support and hope to so many families who previously felt completely alone.
We have given people affected with EI their own identity. EI is a complex disease with many similarities with other types of Ichthyosis, but also many similar traits with Epidermolysis bullosa, Peeling skin syndrome, Pachyonychia congenita, and Bullous Pemphigold. As a result of these similarities and differences, those affected with EI have struggled to receive care designed for EI, and I think that the creation of the EI Cure Project has helped to raise the profile of our community, but also to identify our own research agenda and strategy. Instead of being ineligible for all the clinical studies for the list of other diseases I mentioned above, now we have our own research agenda and dermatological identity. It sounds like a small detail, but it feels enormous when you’re a parent trying to get help for your child. To be able to go to a website and see images of skin that look exactly like your child, to learn that someone is in your corner, to finally understand what will work to help your child, and to know that there is an organisation dedicated to finding a cure offers an incredible amount of relief.
Above all else, it always brings me great joy to be able to help parents around the world to advocate for their children’s care. I have been able to liaise with Doctors and healthcare professionals all around the world to advise them on the care of babies and children who fail to thrive in intensive care, or who have been misdiagnosed for years. Very often, these great healthcare professionals are trying their very best, but when faced with a very rare disease and not enough clinical research, it’s very hard to know how to manage a baby whose skin doesn’t seem to respond well to any of the usual care approaches for Ichthyosis or Epidermolysis Bullosa. Often the parents find us first, and then we supply all the academic information that they are missing. The clinical situation for these children changes very rapidly for the better once they receive the right care, and this can save a baby months of trauma and stress from intensive care.
So, our not-for-profit organisation is still very young, but our community has been growing and developing for a number of years. I won’t feel like we’ve truly accomplished anything until we have a clinical product on our hands that offers a cure, but for now we will continue to advocate for our community and bring better care to everyone one day at a time. That feels like a big deal when I think back to how lost and alone I felt when I first had my own affected daughter. I set out to make sure no one ever felt like that again, and I hope that we’re doing a good job.
What are the biggest challenges that your patient community faces?
When a skin disease is as severe and rare as EI (1 in 300,000) I think there are so many challenges that we face every day, that it’s really hard to maintain a healthy perspective of what ‘normal’ looks like, which makes it hard to explain the real challenges so that others can understand.
Despite this, I think the biggest challenges that our EI community talks about often include: 1) the relentless care routine (typically between 2-5 hours every day); 2) the lack of knowledge of EI in the medical field (Misdiagnosis is still far too common), 3) the fact that it is extremely rare to find a healthcare professional who can see the needs of the person behind the skin condition (Co-existing conditions are often overlooked); and 4) the fear that everyone faces when really needing help from their healthcare professionals, because it is all too common to be sent away with the wrong type of treatment, or to be asked to diagnose their care needs themselves, meaning that you are always receiving inadequate or inappropriate care.
Beyond these daily struggles are the underlying concerns that very little research has been done to explore potential treatments for EI, and that very little research is being done to try to really understand the complexities of the condition as well.
What is the best piece of advice you have for skin patient organization leaders?
I’m afraid I can never just pick one thing for questions like this, but I’ll keep it to two ideas that I’d like to describe:
- We have to find a better way to bridge the gap between rare skin disease patient organisations and healthcare providers. Can we help patient organisations to turn the advice that they give to their communities everyday into evidence-based care recommendations? It really just takes someone like me, who has healthcare experience, research experience, and first-hand care-giver experience to be able to facilitate something like that. There will be loads of others just like me out there, so it would be great if we could gather a rare skin disease task force who can help focus on rare diseases and create better care guidelines for those affected and for use by healthcare professionals.
- Can we harness the power of AI to recognise skin conditions in order to help reduce the frequency of misdiagnosis. My husband has an App on his phone that allows him to take a picture of any type of plant, the app recognises the plant, and tells him precisely how to care for the plant to help it recover from whatever ails it. We need this so badly for rare skin diseases. Already, so many people have to diagnose themselves using Google, so let’s turn it into a tool that actually helps Doctors get that diagnosis and treatment plan right in the first place.
Learn more about this organization by visiting their website: https://www.eicureproject.com/
Follow them on Facebook: EI Cure Project official page and EI Support Group
Follow them on Instagram: Helen Lill @ EI Cure Project
Check out their YouTube channel: Helen Lill @ EI Cure Project