Research Alliance Update
We have had a busy few months here at the EI Cure Project.
Our Team of experts has grown considerably since we started last year. From our humble beginnings with Dr Julia Reichelt and Professor Matthias Schmuth, we have grown to a team of 8 amazing researchers, scientists, and doctors.
In the last 6 months we have added 6 new members to the EI Cure Project Research Alliance:
Professor Wei-Li Di (University College London, UK),
Professor John McGrath (King’s College London,UK),
Dr Joanna Jacków-Malinowska (King’s College London, UK),
Professor Jemima Mellerio (Guy’s & St Thomas’ London, UK),
Professor Cristina Has (University of Freiburg, Germany), and
Professor Sarah Hedtrich (Berlin Institute of Health @ Charité, Germany and University of British Columbia, Canada).
These talented individuals are all volunteering their time for our cause, and together we are working to find new treatments for everyone affected with Epidermolytic Ichthyosis. The fact that the Research Alliance continues to grow is testament to how much they all care about improving the lives of all those affected with EI.
At the end of April, 2024, 3 different research proposals were received by the EI Cure Project Grant Review Committee from the Research Alliance.
We are currently reviewing these applications, and trying to decide how to best use our funding. We want to fund all 3 research proposals, but we can currently only afford to give one grant. In an effort to allow all 3 projects to start this year, we have applied for additional funding from 2 other grant-giving organisations. We will learn the outcome of these additional applications by the end of August, and once the outcomes of these applications are revealed, we will be able to make definitive plans to start our research. While we are waiting, we will focus on fundraising to try to secure more funds for these important research projects.
For now however, we have more good news…
Dr Julia Reichelt has managed to secure funding for a 3-year PhD scholarship through the Qatar Foundation, and her new PhD student started his research (Gene therapy for Epidermolytic Ichthyosis) in April, 2024.
In addition to this wonderful news, our Canadian founders, Rachel Wagner and Jordan Arndt, were recently invited by their son’s dermatologist to attend the first Canadian Genodermatoses Conference in Toronto, Canada. Whilst at the conference, they had the pleasure of meeting Professor Sarah Hedtrich who is an affiliate professor at the University of British Colombia. Professor Hedtrich was awarded the prestigious Johanna-Quandt-Professorship at the Berlin Institute of Health @ Charité in Germany in 2021, and with this she was awarded funding for the translation of gene-editing for the congenital ichthyoses.
For the first part of her research, she has been conducting experiments using gene-editing with human tissue samples for Lamellar Ichthyosis in her lab. Now she would like to extend her research to include tissue samples for Epidermolytic Ichthyosis. She anticipates it will take 2-6 months to procure the necessary samples, and then she will see if her findings with Lamellar Ichthyosis can be applied to EI.
Whilst we still have a long way to go, we cannot help but feel excited about everything that is happening right now.
1 year ago, before we started the EI Cure Project, there was zero funding for EI research, and here we are now with 1 active research project, another funded research team waiting for tissue samples, and 3 further projects just waiting on funding to get started.
The EI community has a lot to feel hopeful about
I’m excited to see how much more progress we can make in 2024. It is all simply a question of raising enough funds, so please, if you haven’t already, it’s time to make your mark on our fundraising thermometer! Every donation counts, and every donation gets us one step closer to realising our dream of being able to offer curative treatments to those who want them.
Velvet’s Vintage honours Baby Cameron
I’d like to introduce everyone to the wonderful Walker Family from Cleveland, US.
Velvet and Craig Walker are US Treasurer and Board Member, Nick Walker’s Mum and Dad. They are also Grandparents to sweet little 2 year old Cameron who was born with KRT1 Epidermolytic Ichthyosis (EI) and Plantar-Palmer Keratosis (PPK).
Velvet and Craig are also the proud owners of ‘Velvet’s Vintage’, a place where vintage dreams are made, and where secret treasures can be found in every nook and stylishly-dressed cranny in the store.
Since Nick started as one of the founding members of the EI Cure Project of America in early 2023, his wonderful parents have donated very generously for 2 years running. Every year at Velvet’s Vintage, they hold a clearance sale, and they donate 10% of their earnings from this to the EI Cure Project of America. Over the last 2 years, Velvet and Craig have generously donated $4,200 (£3,300 / CHF3,700) to give to research into finding a cure for their precious grandson and everyone else just like him.
Velvet and Craig, you are true champions of all things vintage, and now we are proud to have you as champions for the EI Cure Project of America too. Thank you for everything you have done, and for everything I know that you will continue to do inorder to support your family and our mission to find a cure for EI.
A game night to celebrate Brennan Lewis
Photo credit to Simply Whitney Photo Co.
It brings me great pleasure to introduce you all to the Lewis Family of “All Ohio Hoops” fame in the US.
Mum Denise Lewis has been a member of our EI Support Group for a number of years now, because she is the mother to a superstar son, Brennan who has KRT10 Epidermolytic Ichthyosis (EI) without PPK. Denise has always been such a positive presence within the support group, and she really is the proudest mum of her son.
Brennan is now 18 years old, and has always been an avid basketball enthusiast. He plays for his High-School team, the Shelby Whippets, and has always had to overcome many challenges as a result of his skin in order to continue to play at such a highly competitive level. His determination, and steady support from his friends and family, have allowed the EI community to see that it IS possible to play competitive sports, and we all really love seeing him do what he loves the most.
Photo credit (second from right) to GreatSportsShots.com
Brennan has had many experiences while playing basketball as a result of having EI. On the negative side, he has suffered so many blisters, contact wounds, and skin infections, and over the years, Brennan has encountered some shocking behaviour from other people on the court as a result of his skin. Thankfully, Brennan has found the strength to handle it all with grace and dignity. On the positive side, he has found the type of friendships that only go with playing team sports, and he has learned so much about his own abilities and his great strength to play no matter what.
Photo credit to Simply Whitney Photo Co. (second from left) and Ridenour Photography (black & white and colour shots on court).
This year, the student cheer section at Brennan’s school, called the “Red Rage” approached the Headmaster to ask if it would be possible to hold a game night to show their support for Brennan and his skin condition, to help raise awareness, and to show Brennan just how much he inspired his team mates every day. The Headmaster, Mr Geis was more than willing to pay tribute to Brennans’ achievements. Together, the Shelby Whippets, the Red Rage cheer squad, Denise, and Mr Geis planned the event as a surprise for Brennan, and Denise suggested that they also take the opportunity to raise money for the EI Cure Project of America.
On a Friday night, February 17th, 2024 the students held an Ichthyosis Awareness theme night for Brennan. Everyone was invited to wear Brennan’s favourite colour (Green), and the crowd passed around buckets for people to donate cash if they wanted to. The Whippets fans all showed up in support of Brennan, and they raised a super $725 for the EI Cure Project of America.
Photo credit to Denise Lewis and family
After the event, Denise shared the news with our EI Support Group, and the response was so heartwarming. So many new parents are fearful that their EI babies will grow up being unable to play sports or do usual things. Whilst Brennan is anything but ordinary, and has had to combat a great deal of pain, discomfort, and discrimination during his time playing basketball, he has never let his skin stop him from doing something that he is so passionate about. He is even using this passion for a future career, because he is going off to college to study to be a sportswriter, and already has a great following on Instagram for his sports page “All Ohio Hoops”.
Brennans positive approach to life with EI gives great hope to new parents struggling to come to terms with an EI diagnosis.
I would like to say a great big THANK YOU to Brennan, and Denise, for being a beacon of hope to so many families around the world. Your cheer and determination are always welcome, and we salute you for your strength and kindness.
I would also like to say an extra special thank you to everyone from Red Rage and in the Shelby Whippets community who donated their time and money to our cause that night. Please feel great about yourselves, knowing that you did a good thing, and that your donations are going to research into finding a cure for EI, so that one day, our EI children can just play ball, without having to worry about wounds and infections ever again. Thank you all.
EI Cure Project Canada
It brings me great pleasure to introduce EI Cure Project Canada, founded by Rachel Wagner and Jordan Arndt.
Rachel and Jordan welcomed their first-born in 2023, and quickly found out that he was affected with Epidermolytic Ichthyosis (EI). They soon learned about the EI Cure Project, and were very glad to find some help for a condition that their healthcare team had very limited knowledge of. The only flaw was that Canadians often couldn’t get the same products as others in different parts of the world, and they were dismayed that Canadians wouldn’t be able to donate to a home charity.
Despite being extremely busy with a new baby with EI, Rachel and Jordan decided they wanted to make a difference and bring “Impactful change to Canadian families affected with EI”. After many weeks and months of discussions and hard work, they founded their own not-for-profit organisation and became members of the EI Cure Project board.
On their new website they said:
“The EI Cure Project was immensely helpful and reassuring to us when we were grappling in the early days with our rare diagnosis. Above all, the EI Cure Project gave us hope, and so we decided that we wanted to extend this organisation to Canadians.”
“In December 2023, we founded EI Cure Project Canada with the aim of helping to fund research for a cure, support Canadians with information on what resources are available in Canada, in addition to help source the best products in Canada, and help Canadians to connect with other Canadian families.”
Rachel and Jordan, we are so grateful to you for taking this brave step, and we cannot wait to see how the EI Cure Project can make a difference to better the lives of Canadians affected with EI.
#RepsForRare Challenge 2024
Our plans for Rare Disease Day this year are BIG!!!
We’ve made this really awesome music video in hopes of inspiring everyone to get moving AND talking about the EI Cure Project…
Our music video was adapted from the original track “Clap your Hands” by The Kungs and we made the video with friends and colleagues from our children’s school. We truly had a blast doing this, so we’re certain that you will have a great time too!
Take a look, and see if you can stop your toes from tapping…!
We hope we have inspired you to join us…
Our goal is to get 2,000 people to do our routine in order to reach our target of 300,000 Reps!
Epidermolytic Ichthyosis (EI) is really rare. It only affects 1 in 300,000 people, so that’s why we’ve set our target at 300,000.
The challenge will run from February 5th to April 22nd, so there’s plenty of time to get involved.
What do I need to do to get involved?
We would like to invite you to host your own #RepsForRareChallenge event, and raise awareness of the EI Cure Project at the same time.
Don’t be afraid, you don’t need to figure out the routine from our music video, we made a #RepsForRare2024_Instructional video to guide you through the whole thing!
So, turn the music up, and get moving those feet to the beat right now!!!
If you’d rather just have the music, here’s our awesome track for you to listen to or use for your event. I swear, as soon as we recorded this, I listened to it on repeat for 3 days straight! It’s totally addictive, and so up-lifting.
This is our anthem!
Here’s a short infographic to tell you what you need to do to organise your #RepsForRareChallenge event…
A few extra details please…
On the day of your event, we would love it if you could ask one person to take pictures and videos for us, so that we can verify how many people took part, AND so that we can make one of those awesome compilation videos showing everyone that gave their time and energy for our cause! We would also love it if we could flood social media with posts so that even more people learn about EI and the EI Cure Project.
All you need to do is:
1) E-mail a 1-minute video or picture to: eicureproject@gmail.com
2) Upload your event picture or short video to social media using #EIcureproject and #RepsForRareChallenge
3) Tell us about your event by filling out this short form.
It really is that simple!
Now get ready to have some FUN!!!
If you still feel like you’re lacking the information you need, feel free to contact us, or read on and maybe we’ll help with these…
Frequently asked questions
Q1) I’m really nervous about fundraising, but want to get involved, how can I do all this?
Don’t overthink it! If you just want to do this at home in your living room or garden with your nearest and dearest, that sounds absolutely perfect to us!
Q2) I’m not a sports instructor, how can everyone do the routine together?
You can use the #RepsForRare2024_Instructional video OR you can ask a friend with the right skills to lead your group. As you can see from our #RepsForRare_Music Video, we had children from as young as 2 years doing the routine. It really doesn’t matter if people make mistakes, it’s really just about having fun together and raising awareness for a good cause.
Q3) How can we raise money for the EI Cure Project?
There are so many ways to do this, but some of the simplest are to advertise that you’re doing this for the EI Cure Project, and make sure that the link to the website is on your advertising posters and/or social media posts.
Some other examples of how to raise money as part of your event: ask people to give you their spare change in a bucket, organise a dress-down day at the office and charge a small fee, organise raffle prizes for your event and charge a small amount for raffle tickets, or you could organise a bake-sale or pot-luck event where everyone brings a dish and you charge a small fee for the food. On a larger scale, if you decide to run your event at your office, workplace, sports club, or gym, you could ask the owner to make a corporate donation or match any funds that you raise.
Q4) How can we manage donations?
If you would like to raise money for the EI Cure Project before, during, or after your event, you can do this in many different ways. You can ask people to give you cash on the day, you can charge an entry fee, or you can simply ask people to make a donation via the website. If you take cash, you can pay it into your account and then make a donation through the website.
Q5) What if I can’t organise my event for Rare Disease Day on February 29th?
We understand that February 29th might not work for you! Please don’t worry, the date is just a guide, because it’s Rare Disease Day on February 29th. We are running the challenge from February 5th to April 22nd, and then we will create a video of everyone who got involved for Ichthyosis Awareness Month in May.
Q6) How much time should I plan for my event?
Plan for a minimum of 1 hour for your event. For our large group, it took us 40 minutes to get to know the routine! It will depend on how large your group is, and how able your participants are. Our group included a lot of young children, so that increased our time needs. Don’t get too worried about the routine being perfect, just focus on having FUN!
Q7) What equipment will I need for the event?
You need to be able to play music, and if you want to use the #RepsForRare_Instructional Video, you will also need a screen to show your participants what to do. A TV or computer will work if your group is small. If you have a large group, you could also use a laptop and projector if you have them. You also need enough space for your participants to move around. To follow the routine, each person will need to move approximately 2 metres forwards and backwards, and 2 metres from side-to-side. To take pictures and videos of your event, you’ll also need to dedicate someone to that job, and for them to have recording equipment to use for this purpose. For the majority if people, this equipment will be their mobile phone.
Research presented in Japan at ISID 2023
The break-through research of our EI Cure Project researchers and their many colleagues was presented at the 1st annual world congress of the International Societies for Investigative Dermatology Meeting held in Tokyo, Japan in May 2023. The researchers gave an oral presentation of their findings to an international audience of doctors, researchers, and scientists. The scientific abstract for their work was published in the Journal of Investigative Dermatology alongside other “Hot-off-the-bench” topics in the field of gene therapy research for dermatological conditions like melanoma, atopic dermatitis, ehlers-danlos syndrome, and epidermolysis bullosa.
You can see the abstract for their work alongside the journal cover below.
Please know that reading this abstract is not easy because we are talking about editing human DNA, and there is an enormous amount of mind-boggling science that comes with this superhuman feat!
For most of us laypeople, the most significant statement for those interested in finding a cure for EI are as follows:
“Our results obtained in primary patient-derived cells…demonstrate restoration of keratin 9 intermediate filament integrity with an excellent safety profile and major therapeutic potential”.
For the likes of you and me, this means that they managed to edit the EI mutation in the DNA of skin cells obtained from a person affected with KRT9 EI with PPK. When they put the modified cells under heat stress (A typical cause of significant trauma to EI skin), the keratin in the skin cells behaved as you would expect to see in a person without EI. The skin cells were observed to behave as though EI had never existed in their DNA. The researchers also checked the DNA of the modified cells to see if any new genetic abnormalities had occurred as a result of the editing procedure. After extensive genetic testing, they found no abnormalities. The skin cells obtained from a person with KRT9 EI with PPK were now completely healthy.
The joint statements of “Excellent safety profile” and “MAJOR THERAPEUTIC POTENTIAL” are the ones that should really grab your attention!
In summary, the researchers have already taken the first step into knowing how to make a cure a reality, they just need the funding to continue their research and turn their technique into a therapeutic product. So please, join us at the very forefront of medical science, and help fund this life-changing research so that everyone with EI can live a happier life with healthy skin.
I’d like to take the opportunity to thank Professor Matthias Schmuth and Dr Julia Reichelt and all their colleagues for sharing their work. We very much hope to be giving them a grant to allow the work to continue very soon.
Thank you for reading.
In honour of Ellen Kelly Lill
Ellen Kelly Lill - 7th March 1954 to 3rd September 2023
Ellen Kelly Lill was Co-founder Tom Lill’s beloved Maman, my hard-to-live-up-to Mother-in-Law, and our children’s fun-loving and super Scottish Granny. It is with great sadness that we announce her passing, and with such gratitude that we extend our thanks to her friends and family for choosing to support the EI Cure Project in her honour. Ellen’s too-short life was sadly stunted by cancer, and for the last 6 years her once vibrant body and brilliant mind have had to rest at home. Now that she is at peace, we are relieved for her to have gained back her freedom, but we are sad that her life with us was cut short. Ellen was truly a phenomenal person, and our lives were all richer as a result of her presence.
We are truly humbled to have received just over £1000 in donations for the EI Cure Project at this sad time, but we understand that these donations show everyone’s recognition that had she been able, Ellen would have danced from the rooftops to announce her support for our cause, and would have done absolutely anything in her power to help us reach our goal! Thank you to everyone who has chosen to honour her infallible spirit-for-a-good-cause by donating to us, we are so very thankful.
With that in mind, in the following paragraphs, I would like to pay tribute to Ellen and give everyone who has so generously donated another moment to pause and think of Ellen and the amazing daughter, sister, teacher, friend, volunteer, wife, mother, aunt, and grandmother that she was throughout her life-time.
Ellen started out her life in Scotland within the tenements of the great city of Glasgow, she was born on the 7th of March 1954 to parents Terry and Dorothy Kelly. Ellen was one of 6 children, which included siblings Mary-Margaret, Terry, Dorry-Ann, Andrew, and Matthew.
Ellen’s Father Terry worked as a printer and her Mother Dorothy worked in the well-known Barras Market in Glasgow centre, and also ran her own clothes shop (Pictured below). Both parents worked hard to ensure that Ellen and her siblings had everything they needed for a happy childhood in a loving family home.
According to her Dad, Ellen was “Always on the go”, she was always doing something or going somewhere, and she usually did this at pace and with complete determination. She liked to keep herself busy. From a young age, it was clear that Ellen was extremely intelligent and excelled at everything at school. She secured a place at Strathclyde University to study Psychology. This was a huge achievement for a young girl from a working-class family in Glasgow during the early 1970’s, and her parents were understandably extremely proud of their daughter and her academic achievements.
After University Ellen made the first of many moves over the coming years of her adult life, and she took a summer job working in a bar up in the Cairngorms in Scotlands National Park. It was here that Ellen met future husband Jeff who was also working a summer job in Scotland. At the end of the summer, Jeff secured a job as a teacher in Birmingham, and Ellen began her training to become a teacher. Once qualified, she left her beloved Scotland and moved to be with Jeff in Birmingham. They were married on the 3rd of July in 1976.
After their wedding, they moved to Saint Moritz to work as ski instructors, and then onto Sophia Antipolis in the South of France. This is where Ellen secured a job at an international school, which she famously did by writing a poem for the application instead of the usual letter.
Life during this phase was wonderful for Ellen. She made many friends and colleagues within the community, and soon their family began to grow. First son Tom was born in 1981, followed by Matthew in 1982. The whole family have fond memories of life in the South of France. It was an idyllic place to bring up children. Ellen and Jeff remained there for 11 years until another exciting teaching opportunity arose during the summer of 1989. The family relocated to Houston Texas, and it was here that Ellen and Jeff welcomed their third son Jeffrey-Junior or JJ, and their family was complete.
Over the years that followed, Ellen and Jeff lived and worked in many more locations, including Canada and the Cayman Islands, but finally Ellen and the boys settled in Willerby, East Yorkshire where Ellen continued to teach at various local schools and schools for children with learning disabilities.
Ellen was a talented and resourceful teacher, and was loved by many of her students. She received many letters of gratitude for changing the lives of many a troubled student in her time.
Ellen’s boys had a very happy childhood, and they describe Ellen as a mum who was extremely loving, kind, and cuddly. She showed patience and support for any problem she was presented with, although the boys always knew they’d taken things too far when her Glaswegian accent came out full-tilt!
The boys spent their childhood years with Ellen playing games, reading, going on walks and spending days at the beach, and generally having fun. Family was always incredibly important to Ellen and she loved nothing more than a good family gathering. The family spent many of their holidays travelling back home to visit family in Scotland or East Yorkshire. Ellen was one of those people who always remembered to send a card and a gift for someone’s birthday, and she was always the first to find an opportunity for a family get-together. This was no mean feat considering the size of her family in Scotland.
Ellen always made time for her boys, and she would always provide a kind ear, and a shoulder to cry on even when they had all outgrown her. Ellen was a constant within her 3 boys' lives and it is most certainly thanks to her that they are all the young men they are today. Family always meant everything to Ellen, and she was delighted when her 3 sons met their partners, and the prospect of grandchildren came her way. Ellen was also delighted to have 3 new daughters-in-law to spend time with, and I always felt lucky to have found a Mother-in-Law who I felt I could talk to about anything. I don’t think there was anything that couldn’t be resolved with a coffee, or a walk and a chat with Ellen.
Watching her health decline, and the loss of the sparkle from her eyes, has been one of the hardest things her family and friends have ever had to endure. Seeing a once vibrant, intelligent, loving, and witty woman reduced to someone who is unable to talk or move for themselves, is quite simply one of the worst things you could ever imagine. The odds for Ellen’s struggle with cancer were steeply stacked against her from the very beginning, and whilst she threw herself into doing everything she could to swing things in her favour, she very quickly found that any of her efforts would not make a difference. Sadly her breast cancer spread to her brain very early into her diagnosis, and the treatments for her brain disease saved her life and bought her more time, but ultimately left her paralysed and unable to communicate. Her cancer journey was a long and arduous one, and we are relieved that she is now at peace.
Now that she has passed, and her mind and body are finally free and at peace together, our family and her countless friends can remember her exactly as she was when she was alive. Her cancer did not define her, and the phenomenal spirit that was Ellen Kelly Lill now lives on, bold and bright in her children and her many grandchildren. The kindness that we see in Margaux and Delphine; the great sense of right and wrong that we see in Sébastien; the joy of life that we see in Emmie and Thibaux; and the fierce determination and stealth that we see in Arienne are all because of her. Your children and grandchildren are a credit to you Ellen, and we will do our very best to keep your memory alive through them.
Thank you so much for everyone who chose to make a donation to the EI Cure Project in honour of Ellen, please know that by doing so you have chosen to secure an even brighter future for Arienne, and others in the world just like her. Ellen would have done everything she possibly could to support this cause, and I hope that by sharing her story that we might encourage others to consider having a memorial donation dedicated to the EI Cure Project too.
Thank you to everyone who took the time to learn about my wonderful Mother-in-Law, and I’ll leave you with a photo of her legacy. These are Ellen’s grandchildren on one of the last days we all got to see their Granny. We love you Ellen, you can rest easy now, you are at peace xxxxxx
Ellen’s six grandchildren (In order, left to right): Sébastien, Arienne, Delphine, Margaux, Thibaux, and Emmie
Andrew and The Log Driver’s Waltz
In 2011, my husband and fellow EI Cure Project founder, Tom Lill met the wonderful Andrew Durand while they were both teaching languages as part of the TASIS Summer Programs in the glorious Swiss mountain village of Chateau d’Oex. The camp was all about learning languages every morning, followed by mountain adventures in the afternoons. The group of teachers and camp counsellors were very much the type of people who loved life, loved to travel and meet new people, and always had a story to tell about the various adventure sports that had led them to their next challenge or next new direction in life. For Andrew, who had been travelling quite a bit since finishing University, this group of people felt like coming home, and his eyes were opened to a way of life, and a spirit of adventure and endurance that lit a spark in his soul.
Andrew very kindly says that prior to meeting Tom and the group in 2011, he doesn’t think he would have shown much interest in The Log Driver’s Waltz. An 800km multi-day, endurance challenge of epic proportions. Andrew got in touch with me very soon after I shared the news of the EI Cure Project, to tell me about the Log Driver’s Waltz, and about his intentions to seek sponsorship to support our cause. I was of course absolutely delighted to hear from him, to learn about his intentions, and even more delighted to learn that he and his wonderful wife Carmen, are expecting their first child in October 2023.
Oh, and one more detail, you may notice that Andrew is sporting something of a very stylish and debonaire cycling moustache! This is not the norm for Andrew, instead he usually prefers a classic full beard. However, to further incentivise donors to give to his Canadian Go Fund Me, he promised to swap his beard for the ‘stache once he made it to CA$400. Of course, this target was quickly realised, and the beard was a thing of the past and the scene for the Log Driver’s Waltz was set!
In the paragraphs below, you will learn more about his adventures, and see pictures and accounts of Andrew’s 5 days of riding.
Andrew Durand and the other riders at ‘The Grand Depart’ of the Log Driver’s Waltz, July 29th 2023
Day 1
The Grand Depart took place on July 29th from Almonte, Ontario. You can see Andrew 8th in from the right, with the red handlebar bag. This picture was taken of the group of riders at 0km.
For the first 10km Andrew reported that the roads were nice, wide gravel tracks, followed by a ‘legendary’ piece of single-track known as the California Road. In the pictures you can also see the Trillium, Ontario’s Provincial flower, found frequently along the California Road.
After cycling for 128km, Andrew arrived at his first big refuelling location at Sharbot Lake. He chose to stop and make the best of some cake at the Cardinal Cafe, which is an old converted church.
Following his rest stop, Andrew encountered the first major challenge. On the K&P trail, a beaver dam had broken, and combined with a few days of rain, the trail was flooded for more than a kilometre. Andrew’s bike is fitted with tubeless tires, these have many benefits, but unfortunately they meant that Andrew couldn’t simply push his bike through the water. If he had done so, the tires would have filled with water and the tires would be ruined. The only solution was for Andrew to carry his bike, and all of his equipment and saddlebags for the entire kilometre, all the while burning much more energy than his body was truly able to give after a long day of riding. After this, Andrew made camp for the night at Dalhousie Lake, after travelling a total distance of 180km on his first day.
Day 2
This was a beast of a day, with another 180km completed, for a total of 360km in 2 days. When I touched base with Andrew at the end of it, he had sought refuge in a hotel for a few hours, soaked his aching body in an ice-bath, slept for a few hours, and then set-off again in the early hours of the morning around 5am.
Day 3
A 5am start meant Andrew got to enjoy some great scenery as the sun came up. Andrew departed Renfrew over an idyllic wooden bridge, and crossed into the province of Quebec. The morning sun cast an epic shadow of Andrew’s bike across the road. Day 3 was a much better day, and the next section between Shawville and Cambells Bay provided some relief with some very nice trails.
Andrew paused to celebrate making it past the half-way mark in Ladysmith at 420km, made it to Gracefield, but kept cycling to get to Lac Saint Marie at 528km, taking the Day 3 total to just over 200km.
Day 4
Andrew took another early start on Day 4, and enjoyed the sunrise over Lac Sainte-Marie. Following this was a beast of a climb, with an elevation of 1600m over the first 15km. The trails here were hard-going, with lots of washed-out roads and heavy stones.
Andrew crossed a hydropower dam near a town called Low in Quebec (589km). All the logs in the water were the inspiration for the name “The Log Driver’s Waltz”. Until the 1960’s, the logs in these waters were moved by human Log Driver’s who would ride and drive the logs down the river, all the while having to balance and roll the logs to keep them moving. You can learn more about the Log Driver’s Waltz in the short YouTube animation below.
Andrew really took on the distance on Day 4, and crossed another beauty spot in Wakefield, the infamous ‘Covered Bridge’ at 637km. You can see the internal wooden-framed beauty of this bridge in the pictures below. A true spectacle, and Andrew’s spirits were clearly lifting as he racked up the kilometres.
If you’re wondering “Does he ever stop?”, the answer is “Yes”, but Andrew’s stops were usually quite short, particularly at this stage. Andrew shared that along the route he would stop for water and the odd snack at various ‘Depanneurs’ located along the 800km route.
On Night 4, determined to finish on Day 5, Andrew rested at a refuge, and slept a little while. At 11pm he got back on the bike to ride through the night.
Day 5
Andrew knew this would be his final day of riding, and the day that unfolded was a beautiful one, full of blue skies, sunshine, and beautiful landmarks, including Ottawa parliament with it’s iconic peace tower, Carleton Place (787km), and finally the town of Almonte (805km), where Andrew paused to pose with the statue of the inventor of basketball (Dr James Naismith) which marked the finish line for Andrew’s 800km great adventure.
At the completion of this epic adventure, Andrew raised CA$1,555 (£900) from his Canadian family, friends, and followers. In the EI community, when Andrew started talking about his plans on social media, we only had two Canadian families in our EI support group. With Andrew helping us to raise the profile of EI on social media, I was contacted by a number of new families who were unaware of our new charity, and unaware that there was a support group out there dedicated to EI.
By doing the Log Driver’s Waltz for the EI Cure Project, not only has Andrew given us a super donation, he has also helped us to grow our audience, and has helped to provide a new lifeline and hope to Canadian families affected by EI.
From the very bottom of our hearts, the whole of the EI community would like to thank Andrew for his kindness, and for all the resilience, stamina, and tenacity that he has shown on our behalf. Andrew, you are truly one in a million, thank you!
If you would like to show your appreciation for Andrew and what he has achieved, please know that you can still donate directly in Canadian dollars via his Go Fund Me, or you can donate in any currency via our website donation page here.
Super Susie’s Special Birthday!
I’m delighted to introduce you to our good and kind friend Susannah Goddard, and to Tom’s loyal group of canoe-club friends from his University days.
On July 27th, approximately 20 adults and countless kids descended on a very big white house in the UK Lake District to celebrate Susie’s BIG 40th Birthday. It had taken weeks of careful planning on Susie’s part, but it was something of a tradition for her to plan a big get-together for her special birthdays, and one that everyone looked forward to enormously. Our family had travelled from Switzerland for the event, and we were excited to see our friends again, most of whom we hadn’t seen since before COVID shut down international travel. Since our last meeting, most of us had new children to introduce to one another, and everyone was looking forward to a great weekend of fun with family and friends.
In the few days leading up to our departure for the trip, Susie surprised us by contacting the group chat she’d been using to organise the event to say that she didn’t expect any gifts, but if anyone was willing she would be honoured to accept gift donations for the EI Cure Project instead. We were completely humbled by this kind offer, and even more so to be suddenly inundated with donation after donation from a group of people who had already donated at least once to our cause.
The whole weekend was incredibly special. The house that Susie had rented for the occasion was in such an idyllic location, with only a short walk through a field to get to Lake Coniston. Being a group of friends that originally connected through the Leeds University Canoe Club, it was entirely expected that everyone would end up in the lake, or at the very least in a canoe on the lake, at some point during the weekend.
After a day of doing local hikes and playing in the rather chilly lake, it was time to get on with the big party! Susie had arranged for a local caterer to make a feast for everyone, so we divided the kids and the adults and set to work on the very important business of eating until we only had enough space left for some cake!
We all had a wonderful weekend, and it was such a delight to get all our children together and watch them enjoy each others company without too many squabbles. When everyone was packed and ready to go, we all reflected on the fact that the next big birthdays for our group will be when we all start turning 50, and all our children will be in a completely different phase of life. We reassured each other that waiting until then to get together again would be foolish, and that really we should simply book the big white house in the lakes to do the very same thing again next year!
As we all went on our separate ways, the donations from the group continued to come in, and in total the group generously donated a super £920. We are so incredibly grateful to everyone for their kind donations, and to Susie for coming up with the idea, and for encouraging everyone to get involved in the EI Cure Project. Not only do we have more donations, but Susie’s generosity led to the EI Cure Project increasing our network of people willing to help. In writing this story, I hope to honour Susie and our friends for their kindness, but I also hope to inspire others in the EI community to encourage birthday gift donations for themselves as well. It’s such a simple idea, and means so much to us all to see those donations rolling in.
Thank you so much Susie, you truly are a super star xxx
The Racket Man
Meet Jeff Lill AKA ‘The Racket Man’
I’m delighted to introduce you to my Father-in-law, and our kids Grandad, Jeff Lill. Jeff is a retired PE and IT teacher, and now spends most of his days doing the things he loves best; playing and coaching racket sports, helping out his friends with errands, and relishing in aperitifs in the picturesque town where he lives in the South of France.
My husband and co-founder, Tom has early memories of his Dad watching Wimbledon on the TV whilst re-stringing rackets for friends and colleagues on a Sunday afternoon.
Jeff tells me that he would need his racket to be re-strung every 3 weeks when he was at the peak of his tennis abilities in his younger years. Having a racket re-strung so frequently becomes costly, and so Jeff looked into getting his own machine. From that point onwards he became the man who re-strung all the rackets for friends and fellow members of the local racket club. Jeff has done this reliably for decades, and in many different countries, including France, the UK, the US, Canada, and the Cayman Islands.
You might be wondering why you’re reading about rackets?! The answer is that Jeff makes some money for every racket that he re-strings, and since the EI Cure Project started back in February 2023, he has been steadily donating all of his racket-related earnings to the EI Cure Project. To date, he has gifted us a total sum in the region of £350, and he will continue to donate until we reach our goal.
Obviously, I love this story, because Jeff is part of our family, and our kids are really fond of playing racket sports with their Grandad, and are even more fond of visiting Grandad and the beaches in the South of France. But the main reason I love this story, is that what Jeff is doing is really humble and consistent. He’s showing us that every little counts, and that everyone has something in their lives that they can do to help.
So, if you’re willing, have a think about what you could do to help us? It might be that you set up a standing order for a small amount to be donated each month, or perhaps you ask for donations for the EI Cure Project instead of receiving a birthday gift, or maybe you’re one of those people that has a coin-jar in the hallway into which you dump all of your spare-change. All of these are simple ways to help us to make a difference.
Thank you Jeff, we love you dearly, and appreciate all the things that you’re doing to help us xx
Kids reach for the sky at the Scenic Trail Race!
On June 24th our kids and their best friends did some fundraising of their own, and took part in a sponsored Scenic Trail race in Tesserete of Ticino, Switzerland (Pictured from left: Sébastien Lill, Sara Yo, Delphine Lill, Arienne Lill, and Mati Yo).
On June 24th, the Scenic Trail Race in Tesserete of Canton Ticino, Switzerland was a BIG event. Runners took part in everything from a 1km race all the way up to an epic 130km overnight race over our local mountaintops. We are an active family, and our kids like to run, however the complexities of heat intolerance and temperature dysregulation associated with EI are always something that we have to consider. With the kids race scheduled at 10am, we thought it should be cool enough, but it turned out to be quite the glorious day, and the temperature soared. By the time the warm-up for the race came around, it was already 25 degrees C (80 degrees farenheit), and we could see the heat was sapping everyone’s energy. We knew it was going to be a bit of a gamble for Arienne, but with all the kids geared up in their EI Cure Project T-shirts and ready to race, there was no way she was going to stand back and watch from the sidelines!
On our arrival at the race centre, people immediately started paying attention to our kids and their EI Cure Project shirts. We took a little time getting race numbers on, and had fun posing for pictures like the real trail athletes at the event. Then we walked the course, did a little bribery with jelly babies, talked about race tactics and enjoyed the cool of the shade, while the sun blazed overhead. The kids were quiet during the official warm-up, and definitely had their focus on the race whilst waiting for the start. In the 4-7 age group, Arienne, Delphine, Mati, and Sara had to complete 1 lap of the course (1km), and in the 8-10 age group, Séb had to complete 2 laps (2km). Once that start pistol went, all we could do as parents was wait nervously near the finish!
Well, I can tell you now, I think I had more adrenaline racing through my veins watching our kids race more than I’ve ever experienced with running my own race! My heart was in my mouth the whole time, and I could barely speak when I saw Arienne charging down the concrete hill to the finish line. I know every parent feels a little nervous about a child running down a concrete slope, but my goodness, that feeling is 10-fold when that little one has EI, and the risk of severe wounds is just so much higher. Phew! Thankfully anxiety gave way to joy, and I ran to meet her and help her navigate the finish line. Even as I write this, I have tears in my eyes at the memory of how I felt!
Putting my own anxieties about heat and injuries aside, I felt such enormous pride seeing our kids give this race their all.
All the kids did a super job! Mati took 1st place (Age 5-7), Séb took 3rd (Age 8-10), Delphine took a tumble and kept on going, Sara made her Papa get a work-out by insisting he carried her some of the way, and Arienne surprised us all by going ALL OUT!!!
Post-race Arienne was keen to show us her “Pocket-to-chin” arm technique, all the kids checked their medals for authenticity by biting them whilst posing for a ‘Team EI Cure Project’ photo, and then we all headed for gelato to cool down. At this point we were lucky enough to chat with the event organiser Aaron, and the kids all expressed their gratitude (mostly for the presence of the gelato van!) and told him all about their race victories and plans to return next year. The girls were grateful for the chance to have their faces painted, and our friend won a brand new pair of SCARPA trail-running shoes. As you can tell, we had a great day, and we’d highly recommend the experience to other families, including families affected with EI!
Despite sore skin, skin that blisters, and limited ability to sweat, Arienne absolutely LOVES to run! Once again, she showed us exactly how strong she is and that we can always find a way to help her do the things she loves. Of course I wish these adventures didn’t result in blisters and wound-care afterwards, but I refuse to let that stop her, provided it’s something she really wants to do. All we can do is try our very best to make the pain of EI a thing of the past, and this is exactly why we have founded the EI Cure Project. One day I want our daughter, and everyone else affected by EI, to have the choice of an effective treatment which means that they don’t have to deal with the pain that they experience everyday as a result of having skin that doesn’t work as it should.
I’m not sure how much we raised for this event exactly, because it happened in the midst of our launch campaign. What I can say however, is thank you to everyone who took the time to check out our story, and I hope that by doing so, you got to know our family a little better. We are just a typical family trying to make a difference for our daughter and for others just like us. Thank you to everyone who has donated so far, and thank you to everyone who will make a donation as a result of reading this update. We had a blast, and can’t wait to get started on our next event…
Singing sensation in Stratford!
In an event organised by Catherine Jeffs (Red top, far right), the Stratford Vocals and the Golf Club Choir raised £1600 for the EI Cure Project
Catherine and Jon Jeffs are loyal friends of my parents, and have been for many years. When they learned of the EI Cure Project, they felt compelled to do something to help us, and so Catherine talked with Stratford Vocals organiser, Louise Hatton about what they could do to raise funds for our cause. Catherine and Louise came up with the event shown in the flyer. An evening of food and drinks at Stratford Sports Club, a raffle with prizes offered from local businesses, accompanied by a spectacular show from the community choir, the Stratford Vocals.
The Stratford vocals put on a super show singing popular hits like “Jitterbug”, “Super-trouper”, and “I made you look”. The act which followed was a complete surprise to me and many others. My Dad and his Stratford Golf Club friends decided that they should do something for the EI Cure Project too. Not only did many of them donate, but they decided to form a choir themselves and sing at the event. Choirmaster Peter presented them to the audience, and explained that none of them had ever sung in a choir before, but collectively decided in the power of song to help the EI Cure Project.
So there I was, in Switzerland, eagerly waiting to hear news of the event, only to receive videos of my Dad singing his heart out for us. I can tell you, tears were very quickly streaming down my face. Not only because my Dad was singing, but also because of the immense amount of gratitude I felt towards Catherine and Jon and my parents community for pulling together to put on an event like this. Most of them don’t know me, and certainly none of them have ever heard of Epidermolytic Ichthyosis before the EI Cure Project. So, with joyful tears streaming down my face, and my kids all saying “Is that Grandpa singing?”, I reflected on the immense kindness of our communities, and was just so incredibly moved by seeing everyone enjoying a wonderful evening of singing and kindness and just how good it feels to do something to help others.
I recorded a video for Catherine to share with everyone to hopefully show them how grateful I am for what they achieved for the project. In this I explained how the one song that really got the tears flowing was “True colours”. The lyrics of this song are all about not being afraid to show your true colours, and to let yourself ‘Shine’. This song epitomises what the EI Cure Project is all about. People affected by EI often feel like they have to hide, or feel like they can’t do what they truly want to, because of their skin. Either because it looks different, and people treat them differently, or because their skin is just so painful that they physically can’t do what they want to do. The EI Cure Project is all about changing this. By raising money for the EI Cure Project, Catherine and Jon and everyone in the Stratford community are helping people with EI get closer to being able to ‘Shine’ and to ‘Show their true colours’. Events like this really show the EI community that it’s OK to be different, and that people really care enough to help.
There is something extremely powerful about a community with no prior knowledge of Ichthyosis coming together to fundraise. Their collective efforts raised a stunning £1600 for the EI Cure Project, which raises our total collection to just over £37,000 (CHF42,000)!
From the whole of the EI community, I’d like to offer an enormous thank you to Catherine and Jon and the whole of the Stratford community for supporting the EI Cure Project, you are all superstars, and we can’t wait to see what comes next!
Event organisers Catherine Jeffs and Louise Hatton sing “Jitterbug” with The Stratford Vocals for the EI Cure Project Fundraiser
The Stratford Golf Club Male Choir sing “True Colours” for the EI Cure Project Fundraiser
My Dad, Roy Summers with friend, Jon Jeffs testing the microphone before the event.
Family Lark success!
Jordan Lark handing a cheque to his sister Hannah for £3,200 to be donated to the EI Cure Project
Family Lark have been very busy raising awareness and funds for the EI Cure Project. Hannah is our wonderful Logo-designer and fellow EI support group member, and has spoken out about her experiences of living with EI and our efforts with the EI Cure Project. She is also the brains behind the very first newspaper article about the EI Cure Project, please take a look at the article published in the Dunfermline Press.
Hannah’s Brother Jordan decided to support his sister by asking for friends and family to sponsor him to complete the MacTuff Scottish Summer challenge.
On the day, Jordan was full of grit, determination, and high spirits, and was 100% looking the part in his smart new ‘EI Cure Project’ shirt. He gallantly completed the course whilst getting covered head-to-toe in very cold and wet Scottish mud! At the end of the course, he surprised sister Hannah with one of those BIG cheques, and absolutely made her day!
According to the MacTuff website, their courses are:
“Built to test your physical strength and your mental grit because we believe that true character is built through true challenge!”
I personally love this description because it echoes what life is like with EI, and shows just how much Jordan loves his sister and is willing to put himself to the test to help her. The story of the Lark Family obviously touched many hearts, because their efforts raised a spectacular £3,200 for the EI Cure Project. From everyone in the EI community, we would like to express our deep gratitude to Jordan, Hannah, and their family and friends for making this happen. You have inspired others to take on similar challenges, and you have taken our total to CHF 40,000, and we couldn’t be more excited about that!
Thank you so much Family Lark, you are absolute champions for the EI Cure Project, and we salute you!
EI Cure Project becomes a Swiss Association
This week marks an important one in the history of the EI Cure Project. My husband and I legally and formally founded the EI Cure Project with the help of our wonderful friend and Lawyer Nicola Fornara of Tamagni Fornara & Associates of Lugano. This is a very important step for us all, it means we are more than just a GoFundMe, and are now a formal Not-for-Profit organisation on the Commercial Registry here in Switzerland. Once we have our official bank account set-up, investors will be able to claim tax relief on their donations, and their donations will be recognised as a gift for a charitable cause.
The purpose of the EI Cure Project is also clearly stated here:
“The EI cure project aims to raise funds for the explicit intent of providing research grants to help those affected by Epidermolytic Ichthyosis (EI). Funding may be used for pre-clinical and clinical research with the intention of finding a cure for EI”.
The formal registration of our Not-for-Profit organisation means that your donations can only be used for this purpose, and nothing else. As a formal association, we will be independently audited once per year, and regulated according to Swiss Law. So please be reassured that here at the EI Cure Project, your donations are safe, and we are very, very serious about achieving our goals, to give grants explicitly to find a cure for EI.
Collaboration with ICHTHYP foundation
Last week I met with an incredible EI family from Spain. Ruth Anton-Morales and her husband have two sons, the youngest of which is affected with a severe form of KRT1 EI with PPK. Ruth explained that she and her husband are engineers, and consequently are very experienced at running large projects and collaborations of people. They realised that every country has their own ichthyosis charity or foundation, and that it might be better to get all this expertise to work together to try to cure ALL types of ichthyosis. From this vision came the ICHTHYP foundation, and I am proud to say that the EI cure project is now a part of this collaboration alongside all the other ichthyosis organisations from across the world. For more information about the ICHTHYP foundation, please click on the logo above to go to their website.
Rare Disease Day - February 28th
February 28th is International Rare Disease Day, and this year I knew that this would be a great opportunity to raise awareness of rare diseases whilst promoting the EI cure project. Our children’s school, and Tom’s workplace is nothing short of spectacular. The American School in Switzerland (TASIS) is one of the most expensive boarding schools in the world, and consequently many of the future world leaders in all aspects of life are here for us to talk to. We are very lucky to have many influential people around us, and so we feel that if we can get them to understand the plight of rare diseases and the phenomenal science behind finding a cure, then we may actually find a way to find a person who may truly be able to make a difference.
So on Rare Disease Day, we invited TASIS students to wear stripes to show their support or “Show their Stripes”. Tom and I visited every classroom (6 classes, Pre-K to First grade) and talked to the kids about what Rare Disease Day means, then read a storybook about kindness and diversity and helping someone with a health problem (Itchysaurus, The Hospital Dog, and Sylvia’s Itch). After the story, we used an ‘Inspiration board’ of images to help the kids to think about how visible differences can influence our thoughts and behaviours, and then we finished up with a fun zebra colouring activity bearing the EI cure project logo alongside the Rare Disease Day logo.
The communications team at TASIS were kind enough to support our desire to get the message about Rare Disease Day to the whole school community, and as a result our Rare Disease Day event became a news story for the whole school bulletin. There are approximately 750 students at TASIS. Many of them won’t look at the bulletin, many of those that do see the story won’t click on the link, but really we just need a few people to listen, and that might just be enough to change many lives.
From Rare Disease Day on February 28th to the day after the TASIS school bulletin was released, we received 22 donations, with a total value of CHF 4,058. Maybe 3 of those donations were from others sharing the website on Facebook, but the vast majority of donations came as a result of Tom and I getting out there and talking to people. The Rare Disease Day event was such a success, and I’ve made some new connections with other rare disease charities working in Switzerland as a result. In addition, the whole community is actually TALKING about rare diseases, and the teachers are all abuzz with ways that they can teach the kids for next years event. In summary, Rare Disease Day rocked, and we loved every minute of it.
So please, have a think about ways that you can get out there and talk to people in your own communities. What I’ve learned about fundraising in these past few weeks, is that when it comes to getting donations, the personal connection counts so much more than anything else.
30,000 in 30 days!
It’s now been 30 days that we’ve been fundraising, and I’m absolutely delighted to be able to say that we’ve raised CHF 30,000! This has been no easy task by any means and I feel a little as though I now have a new full-time job. I can’t deny however that I’ve loved everything about it, and am still so excited to see where the month of March leads us next.
In the past 30 days, we’ve launched a GoFundMe, we’ve developed a new logo, Tom and I built a website (And we’re both secretly a little bit proud of ourselves for this first-time achievement in our 40’s), we hosted a Rare Disease Day event at our children’s school, I built a new website feature called “Faces of EI”, AND I just finished uploading our very first attempt at a Podcast (with a little help from tech-savvy Tom, phew!). All in all I’d say that February was a busy and productive showcase for how seriously I believe in the EI cure project. I hope that you can all see this and will continue to support this life-changing cause.
Logo design
This week I worked with the very talented Hannah Lark, of Hannah Lark Design. Hannah is incredibly important to all of us in the EI community, she is always there with her positive attitude and reassuring new parents that life with EI will be okay no matter how scary things might seem. Hannah lives her life with EI with grace, dignity, and beauty, and is such an inspiration to myself and many others. It is truly an honour to have been able to work with Hannah for the EI cure project logo.
The logo design incorporates many genomic symbols, and a personal dedication to our daughter Arienne. Her silhouette represents the shape of a chromosome, and she holds the DNA double-helix above her head. The section of DNA high-lighted in red represents the EI pathogenic point mutation. It is this point mutation that the researchers must edit and correct in order to find a cure.
Early meeting of major milestones
The graphs below demonstrate the number of daily donations and how our total (Cumulative) donations have increased over the first two weeks of fundraising. It is clear that whenever we boost our presence on the various social media sites, the number of daily donations increases. The first 3 days correspond with the launch of the GoFundMe page, an increase in donations at day 7 was observed with a reminder sent on Facebook, and another steady boost in donations was observed at day 13 after my posting of a personal video to explain the EI cure project on Facebook, YouTube, Instagram, and TikTok.
After only 3 days, the total donations had risen to CHF 10,000, and after the first 2 weeks, the total donations had risen above CHF 25,000. The EI community is humbled by the level of support that we have seen so far, and we are all so very grateful.
Thank you to everyone who has donated, shared, and supported us so far. We still have a very long way to go, but we are so glad of how far we have already come.
A Valentine’s Day gift
On day 12 of fundraising, we were surprised and delighted to receive a donation of CHF10,000 from an anonymous donor. Whilst every donation is a gift that the EI community is extremely grateful for, there is something incredibly special about someone choosing to donate such a large sum of money to our cause. It came at a time when the frequency of donations had begun to lull, and was just such a positive boost to everyone. So, whoever you are, thank you for our Valentine, it meant the world to all of us.