Big Cheques and Big Hearts

Pearsons and Friends

The fabulous Pearson family and friends from Bury who (complete with flippers) raised over £2000 in their ‘walk in the park’.

Kilimanjaro for Kobe

The astounding total of £37,329 raised by the ‘Kobe for Kilimanjaro’ fundraiser that, in addition to the mountain climb, involved a huge community input to support Hayley Honeychurch and her family.

Big Hearted, Rae

“I chose to do this because I wanted to help Kobe and other children with Cystinosis”  

7 year old Rae Hooper from Oakhampton decided she would like to do something to help raise money for her friend’s little brother, Kobe.  On February 1st she took the plunge (despite having a cold), swam 5 widths, including a few underwater somersaults, and has already raised over £850 for CFUK.  We’ve been blown away by Rae’s determination.

Aspire Biosciences
Speed Dating or Systematic Serendipity

Will reports on his visit to London in October as part of the Aspire Biosciences Rare Metabolic/Liver Disease cohort

For a few years Aspire Biosciences have been running these events in London (The Royal Society of Medicine) with the principle that, if you bring a group of people together, with common interests and purposes, PLUS a deadline of time, then something will happen.  We were invited to attend along with a scientist/medic who knows cystinosis well so I asked Dr David Game, cystinosis expert from Guy’s and St Thomas’s Hospital in London. At registration I received a thick booklet containing details of the 10 companies and 10 charities at the event.  I knew a couple of charity reps Bob Stevens from the MPS Society and Jill Prawer from  Action FCS  but most of the companies/organisations were complete unknowns.

We had been asked to prepare a 5 minute presentation about our organisation, a description of cystinosis and the main unmet needs.  David and I had put this together after a brief online chat so there was definitely a ‘wing and a prayer’ feeling when were invited to be the first presenters.  I can’t say that minimal preparation is to be advised, but it turned out that adrenaline (and a lot of background knowledge) meant our presentation received a lot of praise.

After the opening presentations we had an opportunity to meet the reps from each of the 10 companies – again with a strict 5 minute time limit for each conversation.  This was really intense – trying to represent the needs of the community and to understand what each organisation was offering – and how they might be able to help.
Unsurprisingly, most of the discussions ended with the closing remark from the company reps saying “cystinosis – very interesting, but challenging”.  Surprisingly, however, a couple of the organisations that we had dismissed from their opening presentations proved to be the most hopeful.  ‘Oxidative stress’ is not a concept I had ever knowingly  heard before but, when I saw David Game’s eyes light up at the mention by the rep from PTC a connection was made. We also had a repeat conversation with GeneHub who are looking  to improve the way that patients might have more control over their data in eg registries and links with research and clinical trials.

A final ‘unexpected outcome’ was a link between someone I used to work with in my former career as a librarian who  turned out to be a best friend of David’s wife. You just never know where networking will take you.
Roll on serendipity!

Cystinosis Foundation UK Celebrates Major Milestone: £3.9 Million Award to Advance Ground Breaking Treatment into Clinical Trials

Fantastic news that has been resonating worldwide since October is that researchers at the University of Sunderland have received £3.9 million from the Medical Research Council (MRC) to take the promising new treatment, CF10, into clinical trials.

CF10 offers a new approach—delivering treatment directly to the cells that need it, with fewer doses and the anticipation of vastly reduced side effects. The drug has the potential to dramatically improve quality of life for patients and families.

Cystinosis Foundation UK’s early support helped secure £1.6 million from the MRC in 2018 to complete CF10’s preclinical development. Now, with an additional £3.9 million awarded, the drug will enter clinical trials led by Professor Herbie Newell and a team at the University of Sunderland. Dr. Graham Lipkin, a kidney specialist and expert in cystinosis care, will oversee the trial, which will identify the optimal dose of CF10 for patients.

Our Chair, Will Newman, says: “For those living with cystinosis, the daily reality is brutal. CF10 could change everything. This isn’t just a scientific milestone—it’s hope for a brighter future. If CF10 succeeds, it will be life-changing for cystinosis families around the world. We’d like to thank every single person who has supported Cystinosis Foundation UK—this is all down to your efforts.”

Professor Herbie Newell added: “This trial is a tribute to Roz’s legacy and to the families who inspired her work. CF10 has the potential to transform treatment and offer real hope.”Read more on our website here and watch the news item on ITV Tyne Tees

Procysbi Approved for Use in Scotland

The Scottish Medicines Consortium (SMC) has  accepted mercaptamine (Procysbi) for use within NHSScotland, following a third resubmission assessed under the orphan equivalent medicine process. This landmark decision marks a pivotal moment for individuals living with nephropathic cystinosis and their families, as it introduces long-awaited choice in primary treatment in Scotland for the first time.

Procysbi, a 12-hourly delayed-release formulation of mercaptamine, offers an alternative to immediate-release cysteamine – known as Cystagon – which has been the sole treatment option for decades. The approval means patients and carers can now explore whether this formulation better suits their individual circumstances, lifestyles, and tolerability needs.

“This is a transformative moment for our community,” said Alex Hutchison, a Scotland-based Trustee from Cystinosis Foundation UK. “For years, Scottish patients have had no choice in how their condition is managed. The acceptance of Procysbi not only validates the lived experience of those who advocated for its inclusion, but also empowers families to make treatment decisions that reflect their realities. We can only hope that this helps neighbouring countries in gaining acceptance for use in their area, given that the Republic of Ireland, Wales and now Scotland’s governance bodies have all approved usage.”

Read more here

Words and Tears Rare Disease Showcase Bridgewater Hall, Manchester Wed 26 November 2026 Our chair, Will, attended the Rare Disease Showcase in Manchester in November, along with a CFUK stall.   Here are few words about attending the Rare Disease Showcase in Manchester in November. Inspiring speakers, sharing ideas, making connections and raising awareness of cystinosis all featured highly in my decision to attend plus the opportunity to have a stall for CFUK was an added bonus.  And, knowing the event was organised by Beacon, meant I was confident that the conference would be well run and worth the investment in time.  I wasn’t disappointed. Looking at other stalls made me realise we at CFUK definitely need to update our printed information leaflets and our publicity banner.  Maybe we are too ‘wordy’ and need more images and punchier writing to get our message across.  But the stall definitely acts as a focal point for conversations and for getting a message across, even when you’re not there. The presentations covered a range of national policy and strategy across the whole rare disease sector mixed with individual stories and experiences to highlight specific issues.  I was finally able to meet Kirsty Hoyle from Metabolic Support UK (one of the partners in the successful bid to get Procysbi in Scotland) and Dinesh Chawla, Centre Manager, Manchester Rare Conditions Centre to see how we could work together with the Manchester Cystinosis Hub.   Also I was able able to share my thoughts with Nick Meade from Genetic Alliance about the possibilities of screening for adult carriers of rare conditions as well as pushing for the increase in the number of conditions (including cystinosis) in the newborn screening programme – all part of the UK Rare Disease Strategy I got a free copy of the Haynes Human DNA Manual from the author.  It’s still on my ‘to read’ pile but I look forward to increasing my knowledge and understanding. You can test me next time you see me! We all need opportunities to re-energise and refocus, and this showcase certainly energised me: ideas for things we can do; connections to follow up; people who can help; and a different view of the rare disease landscape.   And tears?  The one presentation I am not able to get out of my head was from a young man, Connor Peebles, who had been diagnosed in 2024 at age 28  with the serious condition, Vascular Ehlers-Danlos Syndrome, only to discover his young son, Alfred age 1,  also had the condition. Connor is doing everything he can for the charity, Annabelle’s Challenge, but it was his poem, Dear vEDS, that moved the audience (and the presenter) to tears.  You can watch the uploaded version by clicking the image .. ….but have a hankie ready.  The power of words (and tears) is never to be underestimated Further pictures from the conference here. (plus all the presentations if you register with Beacon) HOLIDAY OF A LIFETIME? Kat Newman, mother of 10 year old twins Ellie (with cystinosis) and Molly, shares her experience of the ‘holiday of a lifetime’ in Florida. In 2024 I was asked by Ellie’s hospital consultant and nurse if I wanted them to nominate her for Dreamflight. A holiday of a lifetime to Florida for Ellie and numerous other children living with life changing, life limiting medical conditions. Just the children would go along with charity volunteers and medical professionals. My heart and head were torn. The holiday would be fantastic for Ellie and, after speaking to another Cystinosis family whose daughter had been nominated for the trip and went, I agreed, but still felt torn.  As a mum to twins, one with Cystinosis and one without, what would I tell her sister? Could I cope with letting Ellie be on the other side of the world without me, albeit in the complete care of medical professionals, none however who were really  aware of Cystinosis? While my head and heart pulled in different directions as it happened Ellie’s nomination went no further. I never had to make that final decision. In January 2025 I was made aware that Ellie had been nominated for Childflight. This is a North West charity who fly children with complex, life changing, life limiting medical conditions and their families to Florida for an all expenses paid trip of a lifetime. I couldn’t quite believe it but was told not to mention it to Ellie or anyone else. In March we were informed that the Childflight team were coming out to interview us, but this was still just a nomination and we couldn’t say anything to the children. The meeting went well, and I felt reassured that the GP who visited, despite only knowing that Cystinosis was rare, had done his research and was able to say ‘ ok so main areas of concern would be dehydration from the long days and heat’ along with my concerns of a very specific limited ‘English’ diet. Ellie eats everything orally and has never been tube fed but how would she be on the other side of the Atlantic with no access to her daily staple diet Twiglets!!? Pushing my fears to the back of my head, this was just a nomination. Things like this don’t happen to us! Only July 1st 2025…my girls received a life changing video call. Ellie and Molly had been selected to go on the Childflight chartered plane along with mum and Grampy and 50 other well deserving children and their families. Shock, disbelief and fear immediately took over. We had only ever flown a few hours to Tenerife for 3 nights. How would Ellie cope with a 9 hour flight, no twiglets, no marmite? How could I ensure all her meds wouldn’t go missing? Or if her button came out? Would there be enough water on the plane for everyone…plus Ellie. She would need a fair amount more than anyone else! Everyone I spoke to about my fears didn’t seem to get it. ‘She’ll survive two weeks without Twiglets’ ‘ Stop panicking’ ‘you can take all your meds with you’. Childflight are the most incredible charity who every two years take a complete plane full of medically complex children and their families on this trip of a lifetime. The premise behind it is that with complex medical conditions the whole family is affected not just the child. The Childflight team’s main aim is to leave medical conditions back in England and allow the family to experience a trip like no other. The 2025 November trip was the first since Covid and so much planning was going on behind the scenes that we weren’t even away of. Through my own fears and wanting to protect Ellie I think I kind of stumbled through August and September thinking it wouldn’t actually happen.  October arrived and I even acquired a specialist medical feed that Ellie had never ever had ‘just in case’ I couldn’t keep her calories up. Of course Childflight said this was no problem and extra baggage was allocated for this. From the moment we got on the plane, I felt safe. I packed as many twiglets as two 20kg suitcase (plus clothes of course) would fit and flew to the other side of the world. Waiting for the girls dreams to come true. The next 13 days were planned out meticulously. We had a wheelchair allocated to us, not that she had ever needed one…but if she wanted it in case she got tired. Regular and frequent toilet breaks were facilitated and at no point was anyone left behind. As luck would have it, the hotel was bordered by KFC, Burger King and McDonald’s. ‘It’s ok…she can live on burgers for a fortnight if need be!’ Over 13 days we visited all 4 Disney parks, Universal Studios, and Universal Islands of Adventure and ended the holiday at Sea World. Within the two weeks, rest days were included to allow all children (and their families) much needed time to relax, recuperate, sleep and explore alone. On arrival at each of the parks we were amazed to be given gold passes…almost a ‘money can’t buy’ type pass that meant zero queuing for any of the rides and attractions and also a wonderful acceptance by all the cast members. When they saw a Childflight child approach they were welcomed, celebrated and treated like VIP’s. It was almost like a dream. On Magic Kingdom park day Ellie was subdued. On asking her why, she said all I want to do is meet Stitch – the Disney character she has become obsessed with. A quick Disney google informed us that without paying above and beyond, meeting Stitch couldn’t be guaranteed and we spent the day thinking how we could placate her if her biggest dream didn’t happen. For once luck was with us and after searching for where Stitch might be we turned a corner and saw him…with an extensive queue of other children waiting to meet him. As we approached the queue, on seeing our ‘golden tickets’ we were whisked to the front  and I saw Ellie beam a smile making everything worthwhile. Meeting this character seemed to make everything she goes through day to day pale in comparison as she was swept up into his arms for hugs, autographs and photos. It’s a sight and a feeling I will never forget – let alone Ellie. The two weeks passed in a blur, and we returned home safe, healthy and happy. For the next few weeks I was asked “How was your trip? The photos looked amazing”. It was one of the hardest questions to answer. There is no way you could put this trip into words. For 9 years as a family we have lived in a Cystinosis bubble. Doing what we need to do to keep Ellie as healthy as we can day and night, often unseen or understood, because let’s be honest, how do you begin to explain. For the first time ever we were  surrounded by so many families that had each lived a life with a medically complex child, had to make numerous sacrifices for them, and all who had brothers and/or sisters that equally have been affected by their sibling’s medical conditions. Unsurprisingly there were no other Cystinosis patients on the trip. But we learned valuable and humbling stories of other medical conditions which these families had been through and were continuing to go through just like us…even though they were different. Cancer, duchennes muscular dystrophy, cardiac problems, limb amputations. Each family had their own story…but, as Childflight said, we leave the medical conditions at home and for two weeks we were one big family, with, quite often, a silent acceptance that we are all going through something similar although different. Some of the emotions the trip brought out in me can’t actually be explained but it left me feeling humbled to have met so many amazing families, and proud of my own family for what we are and what we do.  I could never explain that to anyone, and unless you’ve been on a trip like it, I don’t think anyone could understand.  So when asked ‘How was your trip?’  ‘It was the best’ is the most honest answer. Thank you, Childflight. Kat Newman

A New Year Challenge for You

Each one of us is somehow connected to cystinosis: an individual with cystinosis, a parent or carer, sibling, or friend. Speaking about your feelings or experiences could really help someone ese in the cystinosis community but also could help you. 

Your voice matters.
You may have seen Jesy Nelson’s recent announcement about her twin daughters’ diagnosis with spinal muscular atrophy (SMA), and her decision to campaign for SMA screening to be added to routine newborn heel-prick tests. Scotland is already moving in this direction—but the rest of the UK is not. Is this not unacceptable. The UK is falling behind many other countries in screening newborns for conditions where early diagnosis can be life-changing. And England is further behind than Scotland!
Jesy’s story highlights something powerful: the ability of personal experience to drive change. We’ve seen it before—Marcus Rashford’s campaign for free school meals is a prime example. But this power doesn’t belong only to celebrities.
The final decision to approve Procysbi (the 12 hourly version of cysteamine) in Scotland was influenced largely by ordinary people sharing honest, lived experiences to show policymakers why change was necessary. 

Stories make a difference
In November, I attended a rare disease showcase in Manchester. One talk has stayed with me: 29-year-old Connor Peebles speaking about his own diagnosis with Vascular Ehlers-Danlos Syndrome—and then, his young son’s. He couldn’t change the diagnosis, but he chose to act and help the charity help others. His emotional poem at the end of his presentation, spoke volumes – there wasn’t a dry eye in the room. Now everyone in that room knows the name of the condition, the impact on one family and the actions they’ve taken.

Your story could be the one that helps drive the next change; helps someone else on their cystinosis journey; or maybe even gives you a bit of a lift. Maybe you’ve got a story about coming to terms with a diagnosis;  maybe a story about travelling abroad; or how you’ve managed the medication regimen; or maybe you too have a poem?  We’d love to hear from you.

Don’t hesitate.  You’re in a position to help.
Could you give a talk to a local organisation or to your child’s school? Did you know that each WI has to choose a local charity to support each year? Could you organise a quiz? Could you write a few words for our newsletter; advertise an event of Facebook; contact the local paper to explain what you’re doing and why?
Don’t leave it to somebody else to get your story out there.  As individuals, parents, friends and families we can make a difference. Help us help the UK cystinosis community and together let’s move the UK forward.

Email me and let me know what you would like to do will@cystinosis.org.

Rare Disease Day28 Feb 2026Rare Disease Day this year is focusing on equity for those with rare conditions and you can get involved in so many different ways to help spread awareness.  A few suggestions below:talk about cystinosis with people you knowstart a conversation with friendsshare your story on social mediaput up a flyer where you work or in schoolwrite to your local MPDownload the Rare Disease Day Advocacy Pack for loads more ideas and support.

HAVE YOU BOOKED! CNE INTERNATIONAL CONFERENCE 2026 FAMILY CONFERENCE THU 2nd – SAT 4th JULY 2026 Hosted by Cystinosis Ireland the conference will be held in the fabulous Royal Marine Hotel, Dun Laoghaire on the outskirts of Dublin Visit the conference website to find out more and how to register and book your accommodation https://www.cystinosis-europe.eu/our-conference Hosted by Cystinosis Ireland the conference will be held in the fabulous Royal Marine Hotel, Dun Laoghaire on the outskirts of Dublin Hope to see you there!