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Cambridge Dragon Boat Festival 2025 officially launched

BEATING the drum – quite literally – at the official launch of this year’s 19th Cambridge Dragon Boat Festival were all the teams behind the return of this year’s ‘bigger and better’ 2025 event.

Celebrating at the festival’s official launch at the UK head office were staff from Illumina, Addenbrooke’s Charitable Trust – whose event is raising money for the Cambridge Cancer Research Hospital (CCRH) – organisers NewWave Events and a team from CCRH.

This year’s festival, which takes place on the River Cam at Fen Ditton on Saturday 13 September, falls during ACT’s 30th birthday year – with a new fundraising target of £50,000 and celebrations planned to make it the ‘biggest and best year yet!’ Cambridge Radio will also be reporting live from the riverbank on the day.

Mark Robinson, VP and GM, UK and Ireland, Illumina said: “Illumina is delighted to once again join forces with ACT to support the 2025 Cambridge Dragon Boat Festival. Last year, this fun-filled event saw an incredible amount of money raised for the new Cancer Research Hospital on the Cambridge Biomedical Campus. It’s a great opportunity to give something back to the communities in which we live and work and we can’t wait to smash it again this year!”

Welcoming Illumina back on board, Natasha Robertson, ACT’s Corporate Partnerships Manager, said: “We are absolutely delighted to have Illumina as the sponsor of this year’s Dragon Boat Festival for the second year running.”

“This year marks the 19th year of the festival as well as our 30th birthday – so we are looking forward to making it our biggest and best yet. Last year we raised a staggering £37,000 with 41 teams competing and this year we are looking to raise even more money for the new Cambridge Cancer Research Hospital.”

Celebrating what is a much-anticipated event in the Cambridge calendar, Natasha added: “Last year’s event was so much fun with some amazing fancy dress costumes so we are excited to see what the teams will pull out of the bag this year and with more teams competing and looking to raise even more money for the new cancer hospital it’s just going to add to the atmosphere on the day.”

Lucy Morton, Executive Director at NewWave Events, said they were ‘super excited’ to have Illumina back as official sponsors. “With their support, and collaboration with the team from ACT, we’re hoping to have a sell-out event raising a record amount for the Cambridge Cancer Research Hospital. It’s such a fantastic day, so don’t hesitate to get involved and enter your teams before we’re sold out!”

All the money raised by teams will go towards building the new Cambridge Cancer Research Hospital (CCRH). The new hospital is to be built on the Cambridge Biomedical Campus by 2029 and will be the first specialist cancer hospital for the East of England. It will bring together clinical and research expertise under one roof – allowing clinicians to detect cancer earlier, treat it more precisely and save more lives.

Reminding people of the importance of the hospital, Elaine Chapman, Lead Advisory Nurse and Co-production Lead for CCRH, said: “I don’t think there is anyone who hasn’t been affected by cancer, either by experiencing your own diagnosis or seeing someone you love or know go through it. Fundraising is so important for this project, as the money raised will go directly into building a hospital that will improve the experience of patients and support research breakthroughs to treat cancer earlier with personalised medicine. Even small donations will make a big difference when added together.”

This year, Elaine – whose role is to ensure patients and both clinical and research staff are involved in the design of the new hospital – will compete for the second year running, adding: “We are thrilled to be competing in our second Dragon Boat Race and being part of a brilliant day that raises awareness of the Cambridge Cancer Research Hospital project.”

The festival takes place on the River Cam at Fen Ditton with teams of 10-15 paddling 30ft boats up the river with a drummer at the front beating time and a helm at the tail.

Races start at 10am, with a prize ceremony at the end of the day. Bankside entertainment and refreshments include traditional lion dance performances. There are also funfair style rides on the day, with sponsors Illumina hosting family-friendly, fun activities including strawberry DNA extraction.

Each team completes three heats, with the 12 fastest teams going through to the semis. Three semi-final winners and the fastest runner-up go through to the final. Each boat seats up to 10 paddlers and 1 drummer. The racecourse is a 200m straight course with each race lasting anywhere between 55 and 90 seconds, with times affected by water flow and weather conditions.

Trophies are awarded for 1st, 2nd, 3rd and 4th place as well as to the highest placed mixed crew (minimum of five female paddlers), best dressed crew and top charity fundraiser. Medals also go to the top three crews and the highest placed mixed crew.

Lucy, from NewWave Events, said: “The Cambridge Dragon Boat Festival is such a unique opportunity for both seasoned and new teams to experience the thrill of racing, with full equipment and guidance provided, making it accessible for everyone. We have a full day of activities planned along the riverbank to keep teams and spectators entertained, from food stalls and entertainment to fantastic prizes, including a special mini golf experience with bubbly and tear and share pizzas for the top fundraisers courtesy of The Tivoli in Cambridge. It’s a day of community spirit, friendly competition, and supporting ACT’s invaluable work with a new fundraising target of £50,000!”

Find out more about the Dragon Boat Festival and sign up on our website.

(Photos courtesy of Mike Rowlands)

Cheffins Celebrates 200-Year Anniversary by pledging over £100,000 towards the building of the new Cambridge Children’s Hospital

Local property firm Cheffins is marking its 200-year anniversary by pledging ÂŁ200,000 to charity through a combination of fundraising events and donations. The majority of the funds will go towards the Cambridge Children’s Hospital through Addenbrooke’s Charitable Trust (ACT). Cheffins aims to raise a minimum of ÂŁ100,000 for the hospital, which will provide a dedicated playroom for children undergoing treatment. This initiative aligns with Cheffins’ commitment to supporting mental health services for future generations in the region.

Established in Saffron Walden in 1825, Cheffins has grown to become one of the best know professional services firms in the region, specialising in property, land, fine arts and farm machinery sales. Like ACT, Cheffins is now focusing on the future while committing to the local community and supporting vital services throughout the region.

Bill King, Chairman of Cheffins, expressed his excitement about the fundraising efforts: “We are thrilled to announce that we are aiming to give this significant amount of money for such an important cause and will be hosting a series of wonderful fundraising events throughout the year, while also match funding all of the charitable efforts of our staff. We are now looking to build a strong foundation for the future of Cheffins as well as the next generations of the people of Cambridgeshire and the surrounding area. We are celebrating with purpose and are proving our commitment to the community with our charitable efforts this year”.

The Cambridge Children’s Hospital will be a pioneering, purpose-built hospital on the Cambridge Biomedical Campus. It will transform healthcare and have a life-changing impact on the 1.5 million children in the East of England, the only region in the UK without a dedicated children’s hospital. The hospital will be the first of its kind, combining both physical and mental health services.

ACT CEO, Shelly Thake, shared her pride in partnering with Cheffins:

“We couldn’t be prouder to be partnering with Cheffins, in the year of their 200th anniversary and ACT’s 30th birthday, to raise money for the new Cambridge Children’s Hospital. Their passion and commitment to supporting the mental health of young people in our region, and this new hospital’s goal of integrating physical and mental health together, in one hospital for the first time, makes this a fantastic partnership. This new hospital will save and change the lives of countless children and young people – but that can only happen with the help of supporters like Cheffins, and their wonderful colleagues and customers”.

Cheffins have lots of exciting events and plans for the year ahead to raise money as well as awareness of the Cambridge Children’s Hospital and ACT. We’re excited to see what they get up and can’t wait to share the news in the future that they’ve smashed their fundraising target.

A minimum of ÂŁ20,000 is also being donated to the Cambridgeshire Community Foundation to support vital funds for young people’s mental health and wellbeing projects in the communities local to Cheffins. The remaining ÂŁ80,000 raised and gifted will be donated to various other charities nationwide.

For more information, please visit Cheffins.

Mum of three who broke her neck in freak accident runs London Marathon to thank Addenbrooke’s staff

An inspiring mother-of-three who broke her neck on an obstacle course is running this year’s London Marathon to thank medical staff at Addenbrooke’s who she says saved her life.

Liza Putwain, 44, who lives just outside Bury St Edmunds in Suffolk, was taking part in a challenge obstacle course – one she had run every year since its launch – when she was flipped from one of the obstacles and broke her neck.

She was taken to Ipswich Hospital before being transferred to Addenbrooke’s in Cambridge where she underwent surgery and stayed for her four-week recovery.

Now Liza, a film studies teacher at Abbeygate Sixth Form College in Bury St Edmunds, hopes to raise as much money as she can to thank staff who saved her life.

Liza will be running for Addenbrooke’s Charitable Trust (ACT) in this year’s London Marathon on Sunday 27 April. As the official charity for Addenbrooke’s and the Rosie, ACT funds cutting-edge equipment, ground-breaking research, and improvements to the environment for both staff and patients, above and beyond what the NHS is able to provide.

Proving all her hard work and rehabilitation has been worth it, Liza took part in the Cambridge Half Marathon earlier this month – making it her third fastest half yet, coming in with a time of 2.07.45.  â€œI was totally gobsmacked,” she said.

Liza, whose three children were aged between 9 and 16 at the time of her accident in September 2023, had been running the obstacle course in memory of her husband, Ian (pictured left), who had died unexpectedly eight months earlier following complications that developed from a virus that the whole family had had, including their three children; daughters Ella and Sophie and son, Charlie.

Liza ran the challenge obstacle course with her daughter, Ella, and close friends, Xav and Debs and their son Max. She was less than five miles in when tragedy struck, and she was flipped from an inflatable seesaw and broke her neck.

“I knew straight away I had broken my neck. I heard it snap and then I just felt the feeling drain from my neck down. It was a massive shock and of course I just thought, ‘That’s it. Game over’.”

Liza’s spine was realigned whilst she was still awake. She then went under general anaesthetic so metal could be placed in her neck to support her broken vertebrae.

Looking back at the care she received at Addenbrooke’s, Liza has nothing but praise for all the medical staff who cared for her along the way – from the paramedics to her surgeon and clinical staff on the ward.

“The paramedics were amazing. I remember one of them telling me on the way there it would be really shocking when I got to hospital as there would be a whole team on me, so he really helped prepare me for what was going to happen. And it’s really weird because I don’t know who any of them are, I don’t know any of their names. I could walk past them in the street and not know it was them.”

“I saw some paramedics in Addenbrooke’s in the coffee shop and told them about my accident and said to them, ‘I know it wasn’t you but I just want to tell you how much of a difference your colleague made in that moment because you will have done that for someone else and they won’t be able to thank you either and tell you what a difference you made to them at that time.”

Liza also praised the female doctor she met on her arrival. “There was a female doctor, I don’t know who she was, but she was so good. I thought I was going to be sick and I was really worried that I was going to choke because I couldn’t move.”

She was taken to the Neuro Critical Care Unit (NCCU) where she spoke to a doctor who had been visiting from Africa and says: “It occurred to me then that if this had happened to me in another place, or another time, I would be dead. Thank God for the fact I live near Addenbrooke’s and it was 2023.”

Liza also has huge praise for her surgeon, Mark Kotter – “Not just because he performed the surgery but because of how he was afterwards. He was so caring and lovely. It’s one thing to be able to cut you open and perform the surgery, but he had so much empathy too.”

For Liza, her accident was the first time she had ever broken a bone. “I’ve done lots of crazy things in the past. I grew up horse riding; I’ve done obstacle courses and coasteering where you jump off cliffs into water, but I’d never broken any bones before.”

When she came round from surgery, she was still unable to move because of the damage to her spinal cord and had to rely on nurses to do things like scratch her nose. Despite this, she says she felt ecstatic after her operation.

‘I kept thinking I’m alive and I can talk! There was no damage to my vocal cords. My friends Jo and Pennie came to see me and we just cried because we were so happy.”

It was then she told staff in NCCU that she had planned to run the London Marathon the following April. Whilst no-one was able to conclusively tell her she would walk again, she said the hope was there. “They were the ones who told me I could do it and that became my motivation, something to aim for.”

The feeling gradually returned in Liza’s legs and a week after her operation she was transferred to a ward. “They kept trying to sit me up, but I had postural hypertension, which affected my blood pressure, so I couldn’t sit up for long.”

She said the dark times came when she was worrying about her kids (pictured above). “I really worried about them. My dad and sister took it in turns to stay overnight with them but Ella, who had just started sixth form, basically ran the house. Talking to her afterwards she just said she realised she had to grow up and it was down to her.”

But she said there were funny moments with her kids too. “We messaged lots and face-timed. And as they got more used to me being here, they would send me links to Amazon to things they wanted me to buy. Another time, Ella messaged to ask if she could get another piercing and I was like, ‘whatever’.”

“Another time, I looked at her Instagram and she was wearing a jumper that I’d bought and not worn yet. I had to give it to her cause she looked so good in it. Other times they’d call me up and tell me, Charlie’s done this, or Sophie’s done that. And I was like, ‘I cannot sort out an argument from my hospital bed.”

Liza said one of the hardest things for her following her accident was the sense of powerlessness that comes when you can’t move and have to rely entirely on someone else to help you – “You feel very infantilised because you have to ask someone to help you go to the toilet and wait until somebody’s ready to give you a shower.”

Liza took her first tentative steps, using a walker, two weeks after her operation. “I was so scared; I was so wobbly. It was like a shuffle of a few steps to sit in a chair. But it felt amazing. I had completed marathons before, and it was that kind of level of achievement for me.”

She returned home a month after surgery with her sister and best friends there to help her. “I was just so glad to go home but at the same time so scared. I couldn’t do much at all really, just a slow steady walk. I couldn’t move my right arm, and I am right-handed so I had to use my left arm to lift my right arm to help me clean my teeth and I could just about wash my face. The kids would go to school and it would take me all day just to put a load of washing on and hang it out. It was very frustrating.”

Liza – who wants to be as open about her recovery as possible to help others – said her friends were amazing, even helping to shave her armpits – “It was the first thing I wanted to do when I got home. I could lift my left arm but not my right so my friend Jo held my arm up while my other friend Pennie shaved my armpit for me.”

She said doing anything again for the first time was scary – from leaving the hospital, to going for a walk to driving, but said everyone in her local community helped by signing up for jobs on a Facebook help page – “Everyone rallied round and did so much.”

Liza’s neck brace was removed six weeks after her surgery and she started having physio, including Pulsed Magnetic Field Therapy. Three months after her surgery, she had her first session with a personal trainer, started working with weights, and did her first run in March 2024 – six months after her accident.

“It was so hard not to cry. I mean, I did cry. When you don’t know if you’re going to be able to walk again, it feels amazing to be able to do it.”

During her recovery she fell over on a run and sprained her ankle and broke her finger and then in August last year had a cyst removed from her neck.

She ran her first half marathon in September last year, three days before the anniversary of her accident saying – “I’ve run tonnes before that, but I will never forget doing that one and being able to do it.”

Lasting effects of the accident include Liza not being able to feel her fingertips on her right hand and only a couple on her left. The soles of her feet feel tingly constantly and are painful when cold, and her reactions are not as fast as they were – “The amount of plates and cups and stuff I’ve broken because I’m a fraction of a second too late.”

Liza is running this year’s London Marathon on 27 April for ACT as a way of thanking all the hospital staff who helped save her life and said “I’ve got loads of people coming down to watch me. It’s going to be really emotional.”

Asked why she wanted to fundraise for ACT, Liza said: “I love Addenbrooke’s. It’s weird because you could go one way or the other, and you could be like, I never want to see that hospital again, but I feel so safe when I am here.”

“Being in hospital for as long as I was you just realise how much additional support is needed. Everyone is doing the best they can but the NHS is just so overstretched and it’s like I say to everybody, you just don’t know when you will need it. You hope it won’t be you but at some point, it probably is going to be you or your loved ones or someone that you know.”

Click here to donate to Liza’s Just Giving Page. Click here to read more of her story, and her recovery.

If you have a place in the London Marathon and would like to run for #TeamAddenbrooke’s please email our fundraising team.

ACT announces biggest Cambridge Half Marathon fundraising total yet – all in aid of new Cambridge Cancer Research Hospital

A leading hospital charity behind fundraising for the new Cambridge Cancer Research Hospital has praised its runners in this year’s TTP Cambridge Half Marathon – announcing its biggest fundraising total yet with a staggering £150,000 raised.

Every penny raised will go towards Addenbrooke’s Charitable Trust’s multi-million pound campaign to see a new world-class cancer hospital built in the city by 2029.

The Cambridge Cancer Research Hospital (CCRH) is to be built on the Cambridge Biomedical Campus and will be the first specialist cancer hospital for the East of England. It will bring together clinical and research expertise under one roof – allowing clinicians to detect cancer earlier, treat it more precisely and save more lives. Pioneering research to come out of the hospital is expected to have a far-reaching impact not just regionally, but nationally and globally too.

Donna Lee Willis, ACT’s Head of Community Fundraising, described Sunday’s event as ‘amazing’, saying: “In 2022, we had four runners and they raised £1,267, so to go from that to 200 runners this year and raising a total of £150,000, you just can’t put into words how amazing that is.”

“Last year, we had 150 runners, who raised £60,000 so we have more than doubled our income even though we haven’t doubled our runners.”

“We have massively grown this event and we keep getting bigger and better all the time. As an event, the Cambridge Half Marathon is really special to us and something we are very passionate about as it’s on our doorstep.”

Praising the runners, Donna added: “I am super proud of every single runner that went out there yesterday and raised money for us and I am so proud of the team and the commitment all the staff have put in behind the event.”

“Some of the stand-out moments for me were when the runners came to thank us for how special we’ve made them feel and for sharing some of their really personal stories with us. Addenbrooke’s has done so much for them and given them such a positive experience but the fact they took time out to come and thank us when actually they’re doing something incredible and we owe them so much, it was just very emotional.”

The TTP Cambridge Half Marathon is considered to be one of the UK’s ‘bucket-list’ races, offering a scenic route through the historic streets of Cambridge and routing through the colleges of Cambridge University.

Among the 200 runners representing ACT on Sunday, were paediatric oncology nurse Molly Shelley (below), who ran with parents Alison and Paul as a way of thanking nursing staff on the ward where she now works, who cared for her as a child when she had leukaemia aged 3.

There were about 100 people at the charity’s cheer point in St John’s College including ACT staff and volunteers supported by St John’s, SJA and a cheerleading troupe from the Victoria Academy of Dance – buoyed along by the infectious music of the Arco Iris Cambridge Community Samba Band, ensuring every runner had a rapturous reception as they passed.  

Donna said: “All of the volunteers that came to our cheer point made each and every runner that went past feel super special and we had the Samba band there too, who we can’t thank enough because of the atmosphere they bought. A lot of the students that were on site in St John’s got out of bed to come and watch because they could hear all the noise from the band. Some of them were still in their pyjamas and we had all the runners getting their phones out to film the cheer point and they were cheering us. It was just such a brilliant day.”

Several family members and ACT staff took part in the race including Donna’s cousin Archie and her son Charlie along with Reece Parr, the son of another member of the fundraising team. Also running were Tom Gull, Co-Director of Philanthropy and Paul White, Director of Communications and Impact, who ran for the tenth time – completing the half marathon in 1 hour and 29 seconds, placing him in the top 7% of all runners.

Describing the experience on the day, Paul said: “This year was my tenth time taking part in the TTP Cambridge Half Marathon, and this event is always one of the highlights of my year – but very few things come close to the experience of running than this year’s race. The weather was fantastic and meant that every mile was packed with supporters lining the roads cheering us on. And to be part of a #TeamAddenbrooke’s team of over 200 runners, all supporting Addenbrooke’s Charitable Trust in raising money for the new Cambridge Cancer Research Hospital was incredible.”

Runners’ places on the official website page for the TTP Cambridge Half Marathon website normally go within a record time – but anyone who would like to sign up to run for Addenbrooke’s Charitable Trust next year can do so TODAY by clicking here.

And if you still haven’t donated – it’s not too late! If you would like to push the total raised to over ÂŁ150K please donate by clicking here.

Addenbrooke’s Paediatric Oncology nurse runs Cambridge Half to raise awareness of hospital that treated her as a child

A Paediatric Oncology nurse working back on the ward that looked after her when she had leukaemia as a child is to run this year’s TTP Cambridge Half Marathon to raise awareness of the charity that raises funds for the hospital where she now works.

Molly Shelley, 22, a paediatric oncology nurse at Addenbrooke’s Hospital in Cambridge, was diagnosed with Acute Lymphoblastic Leukaemia (ALL) when she was just three years old.

Diagnosed in the May of 2006, her parents had taken her to the GP and A&E on many occasions over a period of several months trying to work out what was wrong with her after the toddler started suffering from unexplained symptoms including leg pain, uncontrollable high temperatures and constant ear infections.

Molly would also bruise really easily and had all the typical rashes as well as a distended stomach prior to treatment.

Tests revealed Molly (pictured right with her sister, Daisy) had 95% leukaemia cells in her bone marrow so underwent an intense programme of six weeks of aggressive chemotherapy, which luckily put her into remission. After that she was put on a two-year treatment plan consisting of ongoing chemotherapy, lumbar punctures and blood transfusions before being given the all-clear, aged five.

Asked what she remembers, Molly said: “I’m very grateful and lucky to say that I only have positive memories of what was obviously, a very difficult time. So I feel really grateful for that.”

“The limited memories I do have are of the nurses and my time on the ward – but as a kid, not as a poorly patient. Those memories are of being with my nurses or playing with them. I remember being in my hospital bed one time with my dad, watching a film, and the nurse came in to take a blood test and I just stuck my arm out. They didn’t have to say a word.”

Molly said it was her experience as a child which pushed her into the nursing profession – “My mum always said it was weird that I felt so comfortable in a hospital. Now I couldn’t even imagine myself doing another job.”

Having graduated from University in December, Molly interviewed for her current role in January. Her interviewer was the ward manager when Molly was being treated for Leukaemia and Molly says she now knows four members of staff who were working on the ward when she was a child.

“I definitely wouldn’t be nursing now it if wasn’t for me having leukaemia as a child,” she said. “But I see it as a positive as it has made me who I am today. It’s driven me into this career and made me do things I wouldn’t have done otherwise.”

“Obviously it affected my parents a lot more than me and now when I am on the ward I think more about my parents in that situation than myself.”

“If I’m speaking to the families, I am always thinking about how I interact with the parents. I just think, ‘how would I want my parents to have received this?’ and that’s how I go about it.”

Molly’s Leukaemia obviously had a a big impact on all her family. Her dad, Paul, had to give up his job at the time to care for Molly; her mum, Alison, who works in HR, went to work in the NHS after Molly’s recovery and now works for a genomics company, and sister Daisy, now studies BioMed science.

Molly is running the London Marathon in April, raising money for Leukaemia UK and Blood Cancer UK, who the family raised money for 20 years ago.

She opted to run the Cambridge Half Marathon for Addenbrooke’s official charity, Addenbrooke’s Charitable Trust (ACT), after getting her place in the ballot in this year’s half and said: “I just knew as soon as I got the place it would be so special to me to be running around the city that we are based in and to be able to run for the charity of the hospital I was a patient in. It feels very special and fitting – a full-circle kind of moment because 20 years ago I was a patient on the ward I am now a nurse on.”

Molly has decided to share her story now to help other families going through the same thing.

“The reason I am sharing my story now is I just hope to show parents that me having Leukaemia shows I am living proof that there is light at the end of what can be a very dark tunnel. I just want to give them hope.”

Asked how she finds working with kids, she said: “Kids are just so resilient, you wouldn’t know they were unwell. They all have a smile on their face, they laugh with you, dance with you, they are just incredible. They are living life to the best of their ability.”

She said ward staff organise a mini disco in the corridors once a week to get everyone together and said it was one such special moment that really hit home with her.

“I’d come out of the staff room and saw all the kids had come out of their rooms and the staff had put on a bit of a mini disco in the corridor of the ward. They were all stood there with their drip stands and pumps, with all their wires and everything, and the staff were dancing with them. There was music on a speaker and a little disco ball and some lights and they were all stood in a circle holding hands, dancing – the parents, kids and staff. And it’s in that split second where you are like, ‘This is what it is all about. This is why I do this job. The kids are just incredible.”

If you have been inspired by Molly’s story and would like to make a donation to ACT, please click here.

Rare Disease Day 2025

It’s Rare Disease Day 2025, and we are sharing a Q & A interview by Kitty Caller who carried out some work experience with us last summer.

Kitty interviewed Dr. Carmen Minea, trainee Consultant Doctor, and Miss Ruby Cross, Clinical Nurse Specialist Inherited Metabolic Disorders, from the Lysosomal Disorders Unit at Addenbrooke’s, finding out many interesting facts about rare diseases along the way.

We were intrigued to learn how rare diseases are named and whether is it possible to prevent diseases being passed on through developments in genomics. Read on to find out more


Has ACT ever helped your department?

ACT has supported us in attending a national conference. This was highly appreciated. Participating in conferences and courses enhances our knowledge of rare diseases which then translates into better care of our patients.

What counts as a rare inherited disease?

 Inherited metabolic diseases (IMD) are a group of genetic, inherited disorders of the metabolism.

A rare disease is a condition that affects less than five in 10,000 people of the general population.

How many different types of diseases do you treat?

There are over are over 500 inherited metabolic disorders. Some of those diseases are more common than others. For that reason, we only see some of these diseases in our Lysosomal Unit in Cambridge. It is not unusual to have only one patient with a particular condition.

Please can you give an example of a rare inherited disease?

Phenylketonuria, homocystinuria and maple syrup urine disease are 3 examples of inherited rare disorders which are screened for via a blood spot from a heel prick test in newborn babies.

Please can you explain the details of how these diseases are transmitted?

The majority of inherited metabolic disorders are inherited from your parents. Most frequently the parents will be healthy people with an affected copy of the gene each one. When a child inherits the two affected genes, one from each parent, they will manifest the disease. This is known as an autosomal recessive inheritance.

There are other types of inheritance where only one copy of the gene is needed from one affected parent to have the disease. This is called autosomal dominant or X-linked inheritance. 

Sometimes, a mutation in the gene can happen spontaneously when the child is developing as an embryo. In this case, that child will be the first one in the family to have the disease.

Is it possible to prevent diseases being passed on through developments in genomics?

Many of our patients have the possibility to have a baby without the condition is possible using pre-implantation genetic testing. This will select the embryo which will develop into a healthy baby.

Are any inherited diseases also contagious?

No. All the diseases are passed on through genetics, not pathogens, and therefore cannot be spread from person to person.

How many people in the UK have such diseases?

There are currently around 20,000 children and adults living with an inherited metabolic disorder in the UK.

How difficult is it to diagnose people with rare inherited diseases?

As we already mentioned, some of these diseases are screened for at birth. However, for the large majority of people with these conditions the diagnosis pathway is not very easy.

Some of the diseases will manifest in the first years of life and will have typical symptoms which can be easily spotted by a specialist in rare diseases. Sometimes the picture will not be so clear, especially when the disease manifests in adulthood, and the time until diagnosis can be up to 5-7 years.

This is the case for Pompe Disease in adults, one of the rare conditions which we see here; patients with this condition are seen by many specialists before the diagnosis is made. Also, we have to keep in mind that most doctors and other medical staff are not familiar with rare diseases, and this makes the diagnosis even more difficult.

How are rare diseases identified?

The diseases that are responsible for different metabolism problems can be identified by biochemical tests. Because the diseases are caused by genetics, most patients who present symptoms are diagnosed through genomic testing.

How do they get named?

This is a very interesting question. A rare metabolic disease occurs when a defective gene results in an enzyme deficiency and, as a result, another substance will accumulate and be responsible for the disease’s manifestation. In this case the disease could be named for the substance that accumulates – an example is phenylketonuria. Sometimes a disease will be named for the missing enzyme.

We have several diseases that are named by the person who discovered them. This is the case of Pompe Disease, which was named after the pathologist Johannes C. Pompe who first described the disease in a baby.

Is having a rare inherited disease necessarily a bad thing for the patient?

For some diseases, we have effective treatment which must be maintained for life. The treatment could be a burden for some of the patients, but they can have a perfectly healthy life. This is the case for patients with Gaucher Disease.

There are some inherited rare diseases where patients must follow a strict diet during their childhood. When they become an adult, the diet can be less restrictive and they can have a normal life.

We are still trying to understand why some people can have a specific genetic mutation and biochemical alteration in their blood, but they never manifest the disease. 

What do you find so interesting about working in this field?

Rare Diseases is a very special area to work where we continually learn new things about the disease and patients. The rarity of the diseases keeps professionals from all over the world working together for our patients’ benefit. It is also highly rewarding and comes with a lot of responsibility to carefully deal with complex patients.

If someone wanted to work in this field, what would they need to study?

People with different backgrounds are now working in rare diseases after finishing their normal training in an area. From doctors and nurses to people with an interest in advocating for patients affected with rare diseases, I would say that this is not an ordinary job, it is a vocation.

Visit www.act4addenbrookes.org.uk/donate to support the Rare Diseases Department at Addenbrooke’s.

UK’s first multi-centre study of its kind brings hope for children with traumatic brain injuries

Traumatic brain injury is the leading cause of death and disability in children worldwide and more than two thirds of the survivors suffer longer term problems.

The most severely injured are managed by monitoring blood and brain pressure to set treatment targets – with the potential to improve outcomes by individualising targets via real-time analysis of routinely collected data.

This system of monitoring is known as ‘continuous assessment of cerebrovascular autoregulation (CA) using pressure reactivity index (PRx).”

Prior to the STARSHIP study, data collection for cerebrovascular autoregulation monitoring in paediatric traumatic brain injury was limited to single-centre studies, or looking back at past events, suggesting the data may be ‘inadequate.’

Dr Shruti Agrawal

However, the study, led by Dr Shruti Agrawal (R), a paediatric intensivist and paediatric trauma lead at Cambridge University Hospitals, collected data from 10 UK Paediatric Intensive Care Units (PICUs) over five years and focused on 135 children under 16 years old and a multitude of factors associated with favourable outcomes, unfavourable outcomes and deaths. The aim was to identify critical thresholds of PRx in relation to outcome and create a research database.

The study findings support PRx monitoring in paediatric traumatic brain injury which could be used to fine-tune treatment targets with the potential of improving outcomes in this vulnerable group of patients. The improved data resource will ultimately be opened to third-party investigators, encouraging continued research and collaboration to help improve understanding and outcome for paediatric traumatic brain injury.

Dr Agrawal said: “Understanding the underpinning principles and management of raised intracranial pressure and brain perfusion is essential for reducing the morbidity and mortality of traumatic brain injuries.”

By extending the collection of data to multiple centres, Dr Agrawal said the STARSHIP database offers ‘a unique opportunity of ongoing research and data collection.”

Helping the study were departments within the University of Cambridge; Cambridge and Peterborough NHS Foundation Trust; Birmingham Children’s Hospital; Great Ormond Street Hospital; Leeds Children’s Hospital; Manchester Children’s Hospital; Nottingham Children’s Hospital; Oxford University Hospitals; Royal London Hospital; Sheffield Children’s Hospital and Southampton Children’s Hospital.

The study was funded by Action Medical Research for Children and Addenbrooke’s Charitable Trust (ACT), sponsored by Cambridge University Hospitals NHS Foundation Trust, and supported by the National Institute of Health Research (NIHR) Cambridge Biomedical Research Centre and the NIHR Clinical Research Network.

Shelly Thake, Chief Executive at ACT, said: “We were delighted to be able to help fund this important study, which was only possible thanks to the generosity of our incredible supporters, some of whom will unfortunately have direct experience of the challenges associated with traumatic brain injury in children.”

Dr Caroline Johnston, senior research manager, Action Medical Research, added: “Funding research to further our understanding of traumatic brain injury and the long-term consequences is important and brings hope to children and their families. We are delighted to have partnered with Addenbrooke’s Charitable Trust to work towards improving the understanding and treatment of severe traumatic brain injuries in children.”


Mia Jack, 18, from Soham was one of 135 children who joined the Starship study and applauded the research and those helping her, saying: “Anything that helps with traumatic brain injury in children – and raises awareness of it at the same time – has got to be a good thing.”

Mia was thrown over the handlebars of a quadbike, and hit a tree headfirst, during a family activity day when she was 12 and put into an induced coma at the scene before being airlifted to Addenbrooke’s. Part of her skull was removed to relieve pressure on her brain in an operation called a craniectomy, but immediately after she needed more surgery to remove a blood clot.

Music-loving Mia, who lives in with sister Isabella Jack,19, mum Angela Paine and her partner Stuart Jack, woke up when she heard a ukulele being played on the ward.

To Angela’s dismay Mia didn’t recognise her and could not walk or talk. But over several difficult weeks, Mia’s determination along with the help of specialists, meant she was finally well enough for the next stage.

After a brief rest at home, she went to The Children’s Trust in Surrey – a charity -which offered a two-month rehabilitation programme involving physiotherapy, speech and language therapy, occupational therapy and hydrotherapy.

As she continued her recovery, Mia would play the piano in the common room. She later returned to Addenbrooke’s to have a titanium plate fitted over the hole in her skull, during which she says David Guetta’s hit ‘Titanium’ became something of a “personal anthem” – and part of her piano playing repertoire.

Cambridge Centre for Paediatric Neuropsychological Rehabilitation offered Mia support over three months, including counselling. It helped her overcome the inevitable low moments, which was also helpful to the family.

The teenager was relieved to return to school and successfully moved up to Cambridge Regional College where she is in her second year of a hairdressing course.

She continues to sing, play the piano, and loves dancing, gymnastics and acting. She hopes to undertake a performing arts course next year and has discovered a talent for poetry.

Mum Angela, who works in catering but is also studying hairdressing, said: “To me Mia’s recovery has been nothing less than a miracle. She is so courageous, so talented, and I am very proud of all she achieves.”

Mia said: “When I woke after the accident I was completely confused and didn’t know who mum was, what had happened, and I didn’t understand what was going on. I was wearing a helmet at the time, but apparently my brain was like a jelly in a box that had been really badly shaken and I was going to be in hospital for some time.”

“To say it was all a bit of a struggle would be an understatement, but I am a fighter and hope someone else can take inspiration from that.

Click here to find out what happens for patients at Addenbrooke’s when supporters help us invest in research.

Robotic Surgeon thanks ACT supporters for helping ‘Surgery Super Sunday’ break operation record 

A team of highly-skilled robotic surgeons and clinical staff has carried out a record number of gallbladder operations in a single day using high-tech robots that assist with keyhole surgery. 

Yesterday’s ‘Super Sunday’ saw surgeons undertake ten laparoscopic procedures with all patients treated and discharged the same day, with robotic surgery allowing this to happen because of faster recovery times. 

Sunday’s marathon focussed on cholecystectomies – a surgical procedure to remove the gallbladder and offered in the event of painful gallstones in the upper part of the stomach. The pouch-like gallbladder is not medically essential.  

Dr Siong-Seng Liau

Hepatobiliary Surgeon Mr Siong-Seng Liau, (right) Chair of CUH Robotic Surgery Steering Group (RUG) at Addenbrooke’s, said Super Sunday was a first for the hospital. 

He thanked Addenbrooke’s Charitable Trust, the official charity for Addenbrooke’s and the Rosie, and said the day had been made possible thanks to the generous donations of ACT supporters who raised a staggering ÂŁ1.5 million to provide Addenbrooke’s with the new da Vinci Robotic System back in 2023. 

By undertaking the same procedures in two theatres with two specialist da Vinci robots, specially trained surgeons can perform a large number of these operations safely and efficiently, helping reduce waiting lists. Many of the patients who developed more complex gallbladder disease had benefited from the faster recovery provided by robotic surgery.  

The Super Sunday team

Addenbrooke’s robots are used across six specialties – urology, gynae-oncology, gynaecology, colorectal, ENT (ear, nose and throat) and HPB (hepato-pancreato-biliary – diseases of the liver, pancreas and biliary tree). 

Mr Liau said: “Robotic surgery has revolutionised patient care, providing better precision and accuracy. It is less invasive allowing patients to recover more quickly and to have a shorter stay in hospital. In many cases, robotic surgery has converted some patients who conventionally may require open surgery due to more complex disease to now undergoing day-case robotic surgery.”  

ACT CEO, Shelly Thake, (left) said: “It is important for everyone who has helped make this day possible by donating to ACT as part of the robot campaign to realise the huge impact their fundraising and donations have had.” 

“To hear that the robotic surgery system that our supporters paid for is helping to reduce waiting list for patients is such a positive thing for the hospitals and our patients.  I truly hope people know that every donation they make to ACT really does make a huge difference to the lives of patients and staff at the hospital and we are so incredibly grateful.” 

Graham Johnston, Operations manager at CUH, added: “I would like to thank the robotic team for an incredibly successful Sunday, and everyone who works in theatres for an amazing couple of months. It has been a huge team effort during a really challenging time of year.” 

To make a donation to ACT, and help make a difference to the lives of patients and families in the hospital, please visit www.act4addenbrookes.org.uk/donate.  


Patient Ian Dove applauds Super Sunday team 

A great grandfather who had his gallbladder removed thanks to a robot and skilled surgeon Mr Siong-Seng Liau, said this week: “It was just remarkable.” 

Ian Dove, 51, (pictured right) from Burwell, says he went into theatre at noon and left Addenbrooke’s at 3.30pm the same day. Had he undergone open surgery he would have been in hospital for a week. 

“The incredible thing is that I left without any pain. I think keyhole surgery and Super Sundays to cut waiting lists are a fantastic idea.” 

Mr Dove, who works in construction, went to his GP when he started suffering from pain in his upper stomach. The pain came and went, but when it became constant, he was referred to Addenbrooke’s. 

After a lengthy wait for his operation Mr Dove, who was increasingly having to take days off work, jumped at the opportunity to be added to a smaller pilot Super Sunday list in December. 

After a few weeks recovering at home Mr Dove, who has 13 grandchildren and four great grandchildren, is looking forward to spending more time with them. 

He is also eager to get back to some fishing and his beloved 600cc Suzuki Bandit for a long-awaited ride to the Ice of Man TT motorcycle races in June. 

Mr Dove, who lives with wife Glynis said: “There were days when I couldn’t pick up a screwdriver, let alone move bricks and cement, but after the operation I was absolutely fine with the exception of a few ‘bullet holes’, which you can hardly see now.” 

Government votes to forge ahead with plans for the new Cambridge Cancer Research Hospital

ACT is thrilled that the ambitious plans for the new Cambridge Cancer Research Hospital to be housed on the Cambridge Biomedical Campus, next to Addenbrooke’s Hospital, AstraZeneca and Royal Papworth Hospital, can go ahead and is on track to be built by 2029.

The Secretary of State for Health and Social Care announced the wonderful news in the House of Commons that the specialist cancer research hospital will bring world-leading research and clinical excellence together, to change the lives of cancer patients across the East of England, UK and across the globe.

In naming the project as one of the schemes that has advanced plans in place, including significant progress on our full business case, the Government has confirmed that we can prepare for construction to start in 2026.

A programme of pre-construction works will start next month, which includes the installation of hoardings around the site of the new hospital, ground clearance works and an archaeological dig.

Cambridge Cancer Research Hospital, a partnership between Cambridge University Hospitals and the University of Cambridge, will combine NHS clinical space with three new state-of-the-art research institutes that will support the ambitions set out in the government’s new NHS ten-year plan.

Bringing together world-class NHS clinicians with cutting-edge University and industry-led research, this new hospital will accelerate the early detection of cancer and lead the way globally in delivering bespoke, precision treatments.

Cambridge Cancer Research Hospital is a partnership between Cambridge University Hospitals and the University of Cambridge. It will combine NHS clinical space with three new state-of-the-art research institutes.

Shelly Thake, Chief Executive of Addenbrooke’s Charitable Trust, said:

“Today’s news that the Government has voted to forge ahead with plans for the new Cambridge Cancer Research Hospital is fantastic news for everyone – the community of Cambridge and beyond; patients, families and staff within the East of England as well as patients and families nationally and globally too, all of whom will get to benefit from the ground-breaking research and work that will come out of this amazing new hospital.”

“Our fundraising campaign is underway with lots more opportunities to come.  I would like to praise the continued passion, hard work and dedication of all our supporters and fundraisers – all of whom continue to give so much and who I know will continue to do so until we see this pioneering new hospital built.”

Additional fundraising and philanthropy will still be required to realise our vision for the new NHS hospital, as has always been the case, but this news gives us – and those interested in supporting this campaign – the confidence to do whatever it takes and change the story of cancer forever.

To find out how you can get involved in fundraising for the new Cambridge Cancer Research Hospital, or to make a donation to support this campaign, please click here.

New care packs set to alleviate stress and pressure for families

Funding for new care packs means families admitted to Addenbrooke’s in an emergency with a poorly child no longer need to worry about packing the essentials. They can now concentrate on being by their child’s side where they’re needed most.

Addenbrooke’s and the Rosie hospitals regularly have children admitted and transported from outside the region with their parents. These children are often extremely poorly and admitted in emergency situations, and families often arrive with little more than the clothes on their backs having not had the time to even think about packing bags.

Now, thanks to Addenbrooke’s Charitable Trust (ACT) and the support of Illumina, families arriving in these situations will receive new emergency care packs filled with essential items such as toiletries, underwear, clothing and sanitary products. These invaluable packs will provide much more than the items inside – they will give families a sense of dignity and support and crucially allow them to do the most important thing at that time – be there at their child’s bedside.

For Stephanie McCrae, Senior Sister in the Children’s Services team at Addenbrooke’s, these packs are essential to the care Addenbrooke’s provides to the whole family in situations like this:

“The emergency care packs will make a significant difference to families who are resident in the hospital with a sick child. Families may have arrived unexpectedly or have an unplanned extended stay with little or no personal belongings. By providing these basic necessities, we can ease some of the immediate stress they face. We are grateful to ACT and our generous corporate sponsors Illumina for funding this project. It’s donations like these that help us offer additional support beyond nursing and medical care.”

Each week it is estimated that at least one family will be admitted to Addenbrooke’s in an emergency with a poorly child needing these essentials because they haven’t been able to prepare or pack in time. That’s more than 360 families every year who are faced with the stress and pressure of this situation. Through Addenbrooke’s Charitable Trust and Illumina, approximately 550 emergency care packs will be made available which is enough to provide families with essential items for at least the next 18 months.

For Shelly Thake, Chief Executive of Addenbrooke’s Charitable Trust, these packs represent the vital projects that help to make Addenbrooke’s and the Rosie Hospitals even better, and the power of partnerships with supporters like Illumina:

“We are extremely grateful to Illumina for funding the emergency care packs. When children are admitted in emergency situations they are often extremely poorly, and their families or carers simply don’t have time to even think about packing all the essentials before getting to hospital.”

“Sometimes they come straight to hospital and arrive with little more than the clothes on their backs, to then have to think about going out to buy essentials when all they want to do is just be there with their child is just extremely stressful for the family.”

“To now be able to provide enough packs across all the paediatric wards for the next 18 months is amazing. It will ease the pressure and stress the families and carers face and just allow them to do what they want to do – which is be by their child’s side.”

These packs will be available across every children’s ward and emergency department for at least the next 18 months, supporting every family that needs this help.

Clare Kingsley, Senior Director in the Clinical Lab at Illumina Lab Services said:

“Patient experience is important, which is why we align with ACT’s mission. Illumina is proud to support the emergency care packs project. We hope to provide some small comfort with these essential items during what can be a difficult for families and primary carers.”

Addenbrooke’s Charitable Trust are delighted that staff from Illumina will be downing tools on 21 November to help pack these essential supplies, so that they will be available for families who need them well before Christmas – a time of year when all too many families will see themselves admitted to hospital with a poorly child, and when the time of year only adds to the stress and pressure, making these packs all the more important.