Christmas Pioneer Magazine 2019

WINTER 2019 Great Ormond Street Hospital Children’s Charity

INSIDE THE HOSPITAL CLASSROOM How GOSH School brings education to children in hospital

INNOVATION IN THE OPERATING THEATRE Unique research programmes for trainee surgeons

CRAIG’S CHRISTMAS

Meet Craig, who spent Christmas at GOSH after a kidney transplant

CONTENTS 04 NEWS Stories from around the hospital and charity.

06 COVER STORY CRAIG’S CHRISTMAS Pioneer talks to Craig and his family about their experiences of GOSH at Christmas.

08 INNOVATION IN THE OPERATING THEATRE Four trainee surgeons explain their roles in a unique research programme.

12 AUSTIN’S CLINICAL TRIAL JOURNEY Six-year-old Austin is taking part in a research trial at GOSH for Duchenne muscular dystrophy. Pioneer speaks to the people supporting Austin through his journey.

16 THE POWER OF PARTNERSHIPS Pioneer takes a tour of the Zayed Centre for Research into Rare Disease in Children, learning how a special partnership has created this global hub of research.

22 THE PIONEER INTERVIEW Surgeons Mr Owase Jeelani and Professor David Dunaway reveal how charity support and teamwork played their part in the successful separation of conjoined twins Safa and Marwa.

26 WHY I SUPPORT THE CHARITY Trevor and Yvonne Walhen talk of their decision to leave a legacy gift to GOSH Charity.

28 THE IMPORTANCE OF EDUCATION Headteacher at GOSH School, Jayne Franklin, talks about the importance of education for children at GOSH.

32 GLOBAL RELATIONSHIP REAPS RAPID RESULTS Dr William van’t Hoff explains how GOSH’s Clinical Research Facility plays a key role in international research studies.

34 A PARENT’S PERSPECTIVE 23-month-old Henry has spent many months at GOSH. His mum Shevonne talks about her family’s experience and what their community has been doing to support the charity.

WELCOME I’m delighted to welcome you to the Winter 2019 issue of Pioneer and another edition packed full of hospital news and inspiring stories of children and young people at Great Ormond Street Hospital (GOSH). As I head into my sixth month as Chief Executive of Great Ormond Street Hospital Children’s Charity (GOSH Charity) I’ve already been so encouraged by the resolute spirit, drive and commitment of the hospital and the charity staff, seeing first-hand how a better future for seriously ill children starts here.

In this edition you’ll learn how funds from GOSH Charity played a role in the remarkable separation of conjoined twins Safa and Marwa. Consultant Paediatric Neurosurgeon Mr Owase Jeelani and Consultant Plastic and Craniofacial Surgeon Professor David Dunaway, who headed up the twins’ surgical team, talk about the crucial roles charity funding and hospital-wide teamwork play in these life-changing treatments.

You’ll also learn about the important work the Children’s Hospital School at GOSH and University College Hospital (UCLH) do for the children.

Headteacher Jayne Franklin explains how learning offers an element of continuity in children’s lives – whether that’s in the schoolroom or taking learning to the bedside – and talks about how education is helping towards building a better future for the children.

This issue also takes you on a tour of the new Zayed Centre for Research into Rare Disease in Children, born from a collaborative partnership between GOSH, GOSH Charity, the UCL Great Ormond Street Institute of Child Health and a generous gift from Her Highness Sheikha Fatima bint Mubarak. It’s at the Zayed Centre of Research where, under one roof, hundreds of clinicians and researchers can come together to advance treatments for children with rare and complex diseases. Find out more about its areas of research and its bench-to-bedside approach, as well as stories from some of the children who are already benefitting from ongoing research.

Thank you so much for supporting GOSH Charity, which allows us to help fund state-of-the-art medical equipment, pioneering research into complex childhood illnesses, child and family support services and the refurbishment of the hospital environment. I leave you now with this collection of personal and inspirational stories, which I hope will encourage you to continue supporting the incredible work that takes place both at GOSH and GOSH Charity.

Louise Parkes Chief Executive Great Ormond Street Hospital Children’s Charity

On the front cover: GOSH patient Craig spent Christmas 2017 in hospital.

PIONEER 3

STORIES FROM AROUND THE HOSPITAL AND CHARITY

1 SUPPORTER SURVEY WINNERS

2 RAFFLE NEWS

Thank you to everyone who kindly completed the supporter satisfaction survey this summer.

Your voice is extremely important to us and we’re grateful to any supporters who can spare the time to complete the survey questions and provide valuable feedback.

A huge thank you to everyone who took part in our Spring Raffle this year.

We had a fantastic response and raised more than £260,000 for the hospital.

We received more than 7,700 responses with lots of useful feedback that we have taken on board. This will help us to improve the way we communicate with you in the future.

The money raised will help ensure we continue to provide extraordinary care and services to support patients and families at an extremely stressful period of their lives. So, from everyone here at Great Ormond Street Hospital Children’s Charity (GOSH Charity) – thank you!

The winners of the five survey prizes are below: 1st Prize Two-night Luxury Hotel stay Mrs Hayward, Essex 2nd Prize Special Edition Merrythought Bear Mrs Overy, East Sussex 3rd Prize A GOSH Hoodie Mrs Edmonds, Essex 4th Prize Toiletry Travel set Mrs Michaeloudis, London

To follow on from that success, our New Year Mega draw Raffle will open on 8 January 2020! There will be more than 20 prizes with a mega top prize of £10,000 and a four-night stay at Butlins.

To play, remember to visit raffleentry.org.uk/gosh in the new year.

5th Prize Peter Rabbit Mug Mrs Brailsford, Hertfordshire

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3 CHRISTMAS STOCKING APPEAL

4 SUMMER PIONEER APPEAL SUCCESS Last July we launched our 2019 Summer Pioneer Appeal that aimed to raise £250,000 to support research projects at Great Ormond Street Hospital (GOSH). Thanks to your donations the appeal has raised an amazing £265,000. The funds will be used at the hospital to support clinical trials and help researchers create kinder, more effective treatments for the thousands of sick children we treat with rare conditions every year.

Thank you for your support.

At the end of October, we launched our 2019 Christmas Stocking Appeal.

This annual appeal has been running for more than 20 years and gives our supporters the opportunity to send messages of hope and support to the patients, families and staff who are in hospital over the festive period.

5 TAKING FLIGHT GOSH held a writing competition for patients and staff to celebrate the 90th anniversary of author JM Barrie gifting the rights to Peter Pan to the hospital. The competition’s theme was ‘taking flight’, which allowed for a wide range of creative stories.

We’ve sent out paper stockings in the post and are asking our kind supporters to return them with messages to help brighten people’s days. These messages will be displayed on the TV and patient bedside screens around the hospital, and they will also be hung on the wards.

“It was wonderful to see how the entrants interpreted the theme,” says judge Miranda.

“They came up with some really uplifting stories.”

This is an extract from the winning patient story by 11-year-old Aasiya: “She loved looking out the window. When she gazed at the bright blue sky and the flying birds, she could imagine she was flying too.”

If you haven’t received a stocking in the post, you can send messages and make a Christmas donation online at gosh.org/stocking appeal.

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SPO19

SUMMER 2019

National Institute for Health Research (NIHR) Research Health Play Specialist Sian SpencerLittle, who is also featured in this issue talking about her work with patient Austin (page 12), won the staff category.

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e and five prizes.

YOUR SUPPORT IS HELPING SAVE YOUNG LIVES

A JOURNEY TO CURE CHILDHOOD CANCER Researchers find an innovative way to treat children with leukaemia

Read about how clinical trials are helping sick children with rare diseases

SHARE YOUR VIEW Are we doing our best for you? Take our Supporter Survey and let us know.

PIONEER 5

A home from home for Craig at Christmas Life is getting back to normal for nine-year-old Craig, who had a kidney transplant at GOSH in Christmas 2017 after his dad donated him one of his kidneys.

A CHALLENGING START When Craig was nine months old, doctors discovered an orange-sized tumour, known as a Wilm’s tumour, on one of his kidneys. He went on to have chemotherapy and later the kidney had to be removed.

“You can live perfectly well with one kidney – he had all his chemotherapy and he was doing really well,” says Craig’s mum, Lisa. “He was under surveillance every three months with GOSH and that was brilliant.

We were amazed that he bounced back and was doing really well.”

But at the age of five, just as he was about to finish having check-ups every three months, Craig suddenly had tummy ache and couldn’t pass water. The family later found out the cancer had returned in his remaining kidney.

“It’s just a bit unbelievable,” Lisa says. “After going through it all once, it was traumatic to think it’s happening again. It was quite unexpected – you’re thinking he hasn’t relapsed and everything is fine.”

The doctors tried to save some of Craig’s kidney and planned to take the tumour out with a procedure called nephron sparing surgery. However, during surgery the doctors told Lisa and her partner Brett that it wouldn’t be possible to save part of the kidney. Craig would have to go onto dialysis.

LIFE ON EAGLE WARD “We went up on Eagle Ward and the staff were totally amazing,” Lisa says. “It’s like they become part of the family. He had a couple of sessions of dialysis and, within two days, we were learning how to do it ourselves. We had the home haemo machine and we spent five weeks with the specialist nurses learning how to use it.

“It was really frightening at first but the support we received was amazing. They kept saying ‘Don’t worry, it will become second nature.’”

STAYING IN GOSH CHARITY FUNDED PARENT ACCOMMODATION It was then that the family moved into Weston House, GOSH’s parent and family accommodation. Lisa and Brett could start doing Craig’s dialysis knowing GOSH staff were close by if they needed help, with Craig continuing with his chemotherapy at the hospital.

“You want your child to have a better quality of life and obviously doing the dialysis at home meant it was a lot easier than having to spend three or four days a week at the hospital as an inpatient,” Lisa says.

Once the family got used to doing Craig’s dialysis at home, he was able to do nocturnal dialysis. “It made a huge difference because he could go back to school, do normal things during the day, rather than sitting on the sofa for six hours at a time,” Lisa adds.

A MATCH There was a two-year wait following Craig’s chemotherapy before he was well enough to have a kidney transplant. Tests showed Craig’s dad Brett was a match to donate a kidney.

“It was like the best Christmas present ever,” Lisa says. “First of all, it was a bit strange that, as his mum, I couldn’t give him the kidney. Once we got our head around that it was fine, and it was amazing to think his dad was doing it for him.

“To get a phone call saying the kidney was on its way to Craig from his dad was surreal – at that point I did break down and cry.”

“We had a play worker who created parcels and, every time a child hits a post-transplant milestone, they got to open one of these presents. That was a huge incentive to Craig to want to get up and start doing things like normal.

“He would ring his Daddy and say, ‘I’ve opened my present because I’m sitting in a chair!’”

A LITTLE STAR Now, Craig doesn’t need to be on dialysis and only has to come to GOSH every three or four weeks for check-ups. Despite years of treatment, Craig has stayed positive and he is now able to do all the things boys his age should be doing. “He is a little star,” Lisa says.

“It’s been really traumatic, but it’s now immensely rewarding seeing him through the operation. For two or three years it was just horrible because he couldn’t do anything with a line in his chest.

“Now he is going to children’s birthdays and trampolining. We took him to the beach for the first time and he could swim.

“To see him now being able to do normal things that everyone else takes for granted is really heart-warming.

“What’s lovely is I usually send pictures to the renal team at GOSH saying look at him now! They are always grateful, and I get some lovely replies. It’s important for them to see it to brighten their day.”

LOOKING TO THE FUTURE

A CHRISTMAS TO REMEMBER

Craig and his family are now looking forward to an extra special Christmas this year out of hospital.

The date of the transplant in December meant Craig needed to stay at GOSH over the festive season. “We were at GOSH over Christmas recovering, but it didn’t matter, they make it just as lovely,” Lisa says. “They are so jolly and happy, and they make such an effort.

“I think it will be amazing because we will have, what they call, his ‘kidney-versary’, which will be the 19 December, so we are planning a big party for this year,” Lisa says. “It’s given us the freedom to do what we want to do at Christmas, whatever that may be.”

“Father Christmas came to Craig’s room and delivered presents. We had Christmas dinner down in the canteen as, by that point, we could get him in his wheelchair and off the ward for a few hours.”

Lisa’s spirits were also lifted by GOSH Charity’s annual Christmas Stocking Appeal, which encourages the public to send messages of hope and support to children and their families at GOSH over Christmas, and to make a donation to the charity.

“When I used to get a cup of coffee for ten minutes, I can remember reading all these people’s messages. It was lovely,” she says.

Following his transplant, Craig stayed on Eagle Ward.

His recovery was supported by Play Specialists who are funded by GOSH Charity.

“It makes things easier when you know there’s someone there to brighten your child’s day,” Lisa says.

PIONEER 7

Innovation in the operating theatre

Lacey is 13 years old, but she’s been coming to GOSH since she was a baby. It’s children like Lacey who may benefit from surgical research in the future.

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What will paediatric surgery look like in five, 20 or 50 years?

Surgical training is intensive, leaving little time for trainees to gain research experience, but research is the key to improving techniques and developing new ones. GOSH Charity is therefore working with GOSH and the UCL Great Ormond Street Institute of Child Health (ICH) to offer a unique research programme for trainee surgeons.

The Lewis Spitz Paediatric Surgical Scientist Programme was launched in 2017 and, so far, has appointed four outstanding trainee surgeons. Their projects span a range of specialist fields, from brain tumours to eye conditions. Each candidate has three years of protected research time to complete a PhD, before they return to their clinical training.

The surgical scientist programme is named after world-renowned children’s surgeon Lewis Spitz, who became the UK’s first Professor of Paediatric Surgery in 1979 when he took up the role at GOSH and the ICH.

IMAGE-GUIDED SURGERY

Name: Sebastian Toescu

Specialism: Brain surgery (brain tumours)

Project start: June 2017

That’s not all: I run a record company with friends in my spare time.

“Brain tumours are thankfully rare,” says Sebastian, “but they still affect lots of children across the UK. Many occur at the back of the brain. Unfortunately, surgery to remove the tumour can result in children developing a condition called cerebellar mutism, leaving them unable to speak after surgery or with profound problems with mood and movement.

Although it can get better in time, it is a very perplexing condition. There’s some evidence it may be linked to pathways in the brain becoming disconnected, and that’s what I’m studying.

“I’m using tractography, which allows us to map out connections between different parts of the brain. I would love to see this used inside the operating theatre, to help surgeons avoid damage to vital pathways and potentially stop cerebellar mutism occurring.

“I’m 18 months into my PhD and we’ve recruited 32 children to the study so far, as well as 30 healthy children as controls. I’ll study tractography and MRI data from these children, looking for clues as to why cerebellar mutism occurs. I’m also looking for features in the brain that might put certain children at higher risk of developing the syndrome.”

Sebastian’s project could lead to a brighter future for children with brain tumours and better surgical approaches.

Sebastian adds: “It’s a unique opportunity to be immersed in the clinical department as well as the research side of things. For a surgeon, that’s unusual and invaluable.”

PIONEER 9

Name: Aswin Chari

Specialism: Brain surgery (epilepsy) That’s not all: I’ve had custom scrubs made for my baby daughter.

Project start: January 2019

TRANSFORMATIVE TECH Buried within our brain tissue, 100 billion nerve cells transport vital information and electronic signals that control all body functions, from seeing and blinking, to thoughts and emotions. Epilepsy occurs when some of these nerve networks get ‘over-excited’, leading to seizures that can severely impact a child’s life. But if doctors can identify the exact area of the brain causing the problem, they can remove it.

Aswin says: “Imaging can help us identify the source of the seizures in some children, but for others that isn’t possible. We then have to place tiny electrodes into the

Name: Natalie Durkin

Specialism: Tissue engineering

Project start: October 2019

That’s not all: Every year I take part in the NHS Racing Regatta, sailing 40-foot yachts around England’s south coast.

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child’s brain that can measure the electrical signals and tell us where the over-excited nerves are.”

Currently, children must be having a seizure for doctors to get these electrical readings. That can mean monitoring over several days, or even inducing seizures by reducing the child’s medication.

These approaches are not without complications and risk and can be unpleasant for the child.

the additional information from these ‘microelectrodes’ will allow us to better understand where the seizures are coming from, without the child having to have a seizure during recording. This could reduce time and potentially improve the success of subsequent surgery.

“Epilepsy can affect the way a child’s brain develops, so curing seizures as early as possible is vitally important.

“My project aims to make these tests kinder, quicker and safer,” says Aswin. “We’ll use new electrodes that can detect tiny amounts of electrical activity from single nerve cells just one-tenth the thickness of a strand of hair. I’m hoping

“We hope the project will also shed more light on how healthy brains and epileptic brains differ, paving the way for less invasive treatments in the future.”

PERSONALISED TRANSPLANTS

evidence to prove the technique is safe and effective, before testing in patients.

In 2018, GOSH researchers revealed the world’s first labgrown oesophagus composed of multiple types of tissue, showing that it had the potential to replace missing sections of oesophagus.

This incredible work, funded by GOSH Charity, was a vital step towards developing personalised, rejection-free transplants, changing the lives of children born with severe gut problems.

Under the supervision of Professor Paolo De Coppi, surgical trainee Natalie will now carry this work forward to its exciting next stage: gathering the necessary laboratory

Natalie says: “This could make a huge difference to children born with oesophageal atresia, a condition where the food pipe ends in a dead-end rather than being connected to the stomach. In severe cases, a new food pipe must be made to join the two disconnected organs – known as a gastric pull-up procedure. The stomach is made into a tube and brought up to meet the oesophagus. This procedure is not perfect and can result in significant long-term complications that can affect the child’s ability to eat and their overall quality of life. A recent study of patients at

GOSH showed several of these children had ongoing problems into adulthood, including feeding difficulties, repeat surgery and lung problems. So while this procedure has helped many children, it also means some of these young people are living difficult lives. We want to offer them a better option.”

Natalie and the team hope oesophageal tissue grown in the lab, from the patient’s own cells, could offer this alternative treatment. “We’re creating an organ-like substitute – grown from the patient’s own cells – that could be transplanted to replace the missing portion of the food pipe. That should restore normal

function. And, unlike a donated organ, there should be no risk of the child’s immune system rejecting the tissue because it’s populated with their own cells.”

As part of her fellowship, Natalie will learn how to grow this special tissue from stem cells and transplant it into oesophageal defects in animals, to show whether the scaffold can function as a replacement for a missing piece of normal oesophagus.

If her project shows the approach to be successful and safe, it will open a door to the first-ever human trial.

AVOIDING SURGERY ALTOGETHER Right now, there are billions of conversations happening inside your body. Your cells are silently communicating, project-managing the complex web of processes that keep us alive and healthy.

Name: James Wawrzynski

Specialism: Ophthalmology

Project start: March 2020

That’s not all: I’m a fully qualified motor-yacht skipper.

But what if a mistake in the body’s built-in instruction manual – DNA – disrupts this finely tuned process?

Genetic mistakes affecting the way cells communicate could be behind a range of debilitating childhood diseases, including a group of conditions that cause partial or total sight loss.

“We think some may have a common genetic cause that stops cells communicating properly as the eye develops,” James says.

“The only current treatment options for many children are surgical. We try to repair damage and remove any eye tissue that isn’t behaving as it should but, unfortunately, many children still end up with severe sight loss.”

James will study vitreous (a gellike substance filling the back of the eyeball) and aqueous (the

fluid at the front of the eyeball) taken from GOSH patients and healthy volunteers during their routine surgical procedures. The aqueous and vitreous carry vital genetic information that should reveal whether mistakes in the child’s DNA are causing problems.

“Alongside imaging and genetic analysis, I’ll be learning – under the supervision of the world’s leading experts in this area – to perform complex eye surgery,” James says.

“For conditions like retinopathy of prematurity – abnormal blood vessel development that can cause blindness – GOSH is one of only two hospitals in the world to carry out the latest surgical technique.

“It involves feeding a tiny camera into the eye, giving surgeons a view that makes intricate operations possible. It’s an incredible opportunity to train with the best in the field. Assisting with, and performing, these procedures will also allow me to collect samples to use in my research.”

The project could ultimately lead to kinder, more effective treatments for children with these eye conditions.

PIONEER 11

Austin’s clinical trial journey When Austin was two, he was diagnosed with Duchenne muscular dystrophy, a genetic condition affecting mainly boys, which causes gradual deterioration of muscle strength.

Pioneer speaks to the people supporting Austin, now six, as he undergoes a clinical research trial at GOSH.

MAXINE AUSTIN’S MUM Austin suffered from stomach problems and colic as a baby and, as he got older, would bang his head and show frustration. When he was two, he was particularly poorly with what we thought was a throat infection.

We took him to the doctors and we were referred to Brighton’s Royal Alexandra Children’s Hospital for tests. I was asked lots of questions about his progress and it turned out he was missing some milestones; he was a late walker and didn’t speak.

A specialist then recommended muscle protein tests, followed by genetic testing and, on 4 November 2015, the diagnosis was confirmed as Duchenne muscular dystrophy (DMD).

“Staff here not only empathise with the children but the parents as well.”

Maxine While Austin’s primary care is at Evelina London Children’s Hospital, I had done a lot of research into DMD and discovered Great Ormond Street Hospital (GOSH) runs trials at the National Institute of Health Research (NIHR) Clinical Research Facility (CRF) that were suitable for Austin. The genetic causes of DMD are different for different boys. In Austin’s case, a small part of his DNA code – known as exon 52 – is missing. Austin was very young when he was diagnosed and there weren’t many trials open for his age.

I contacted GOSH and we were invited to come in for the Baby Exon Skipping Trial – the aim of which is to skip the missing section of DNA – starting for children aged between six months and four years.

We’ve been coming to the CRF now for more than 100 weeks. Initially, because of Austin’s young age, he had a lot to contend with, including blood tests and having to infuse his medicine into a vein. His veins are so small it would sometimes take several attempts to find one, which was very stressful for Austin.

We took the decision to have a port fitted into Austin, which is a button under his skin, into which the needle is inserted. Since then, infusions are much easier and Austin

tolerates it extremely well; he’s a real trooper. He also has lots of other tests as part of the trial, such as regular heart scans and physiotherapy. Outside of the trial he has occupational therapy support, social communication support, speech therapy and hydrotherapy.

Austin also works with Play Specialist Sian Spencer-Little [GOSH Charity funds the Play Specialist team]. We’re so grateful to her because she takes Austin’s mind off everything, giving him coping methods with needle insertions. She always amazes me with her energy – she has a real sparkle. I can now leave Austin in his room, have a cup of tea, and know he’s in the safest hands possible. He really looks forward to seeing her – the strong bond they’ve created makes me cry sometimes. She allocates her time to Austin in the CRF every Wednesday and I look forward to it. Sometimes I sit in the room and watch her and Austin together. She inspires me with their play and what we can do at home with him. Heroes come in all shapes and forms and she is one.

All the nurses here have been so friendly, compassionate and professional. I feel safe here and have built up friendships. Staff here not only empathise with the children but the parents as well; it’s fair to say both Austin and us as a family have been through a lot.

But he’s a real character with a great sense of humour. Austin was asked to feature in the completion celebrations video of the Zayed Centre for Research into Rare Disease in Children. On the day, he walked around the facility with a researcher and was a real natural in front of the camera! The researcher told us he makes oesophagi in the lab (part of regenerative medicine research at UCL Great Ormond Street Institute for Child Health), and Austin asked him: ‘can you tell me how to make a brain?’, which made us all laugh.

I don’t think Austin’s diagnosis is something I’ll get over. DMD is life limiting and there’s no cure. We’ve been advised there’s an extension to the trial, so we will continue our weekly visits for the foreseeable future. We’ll continue with passion and enthusiasm because we feel we have hope with this trial. It’s not a cure but we hope to keep him ambulant for longer, which is really important.

PIONEER 13

“I help each child work out what works for them.”

Sian Spencer-Little

SIAN SPENCER-LITTLE NIHR RESEARCH HEALTH PLAY SPECIALIST I am part of the specialised and therapeutic Play Team at GOSH, which is supported by GOSH Charity, where my role is to support children and young people who are taking part in research. I work in the CRF at GOSH three days a week, creating an environment that minimises trauma using specialised play techniques.

I have an overview of the research projects the patients are involved in, what’s happening during patient visits, and how long the patient has been coming to the CRF. I’m also familiar with the different teams that care for a child on a research study – whether that is taking place in the CRF or in another ward. I work closely with the research nurses, so I know who is coming in to the CRF. I also give an update on the play programmes and procedural plans I’ve developed.

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I also help each child work out what works for them. Part of my role is to assess, help and support Austin to find his courage and give him some control back during his visits and to ask him what matters to him.

Together we have created a procedural plan about his likes and dislikes and what we could do to help. He enjoys counting, dancing and singing so we incorporated these elements into the plan, as well as his love for sensory play. Part of Austin’s plan involves the Scooby Doo theme tune too.

He also really likes getting things done in a timely manner so now he has a routine for every visit. Having this routine makes the whole process much less traumatic for Austin and his family and much quicker and efficient – we are now able to get the most invasive parts of his visit done in two minutes. This is a great achievement for Austin and one we are all really proud of.

PROFESSOR FRANCESCO MUNTONI PAEDIATRIC NEUROLOGIST AND DIRECTOR OF THE DUBOWITZ NEUROMUSCULAR CENTRE The most common muscular dystrophy in childhood is DMD. In the last few years there have been substantial advances, both in the understanding of the cause of the condition and the treatment that can make an impact on the cause. I am currently heading up nine open clinical studies for DMD at GOSH,

The team at the Dubowitz Neuromuscular Centre

and six to seven that are in set-up (studies are led by both clinic-academic and clinical staff in the Centre).

In particular, GOSH is really paving the way in an area known as ‘genetic patching’. Imagine the Golden Gate Bridge in San Francisco; if you cut out a tiny section in the middle, the bridge would collapse. It’s the same with the dystrophin gene, which is crucial for building and repairing muscle.

This is a huge stretch of DNA and most children with DMD have a tiny section missing, meaning they can’t produce dystrophin. We have developed a technique called antisense oligonucleotide, which re-establishes the connection between the two parts of the gene, allowing production of the protein that the children cannot otherwise produce. This became the first drug approved in the US for DMD. I’ve seen this condition go from no understanding of what caused it, to a condition that could be diagnosed. Until 10 years ago, there was nothing more than steroids to offer to patients with DMD. Now, neuromuscular disorders are regarded as one of the most rapidly growing areas of research being pushed from the laboratory to the children who need it.

NATIONAL RECOGNITION The Dubowitz Neuromuscular Centre, which opened at GOSH in 2008, receives new child patients every year from across the UK. This year, it was officially recognised as a Paediatric Centre of Clinical Excellence by Muscular Dystrophy UK, following a rigorous UK-wide audit of neuromuscular services by a panel of experts.

Highlighted at the award presentation was the key role that GOSH staff play in supporting children who are living with nerve and musclewasting conditions.

In addition to diagnosing, treating and supporting children with neuromuscular disorders, the centre also plays a leading role in clinical trials and research into the causes of neuromuscular diseases in childhood and new therapeutic interventions. GOSH Charity funds vital projects and roles in the neuromuscular research team, helping to push forward its pioneering work.

I think GOSH is a unique place for doing this; having the hospital and research institute on one site means labs are creating new treatments right next to the patients who will benefit.

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THE POWER OF PARTNERSHIPS Hundreds of clinicians and researchers will come together under one roof to advance treatments for children with rare and complex diseases, thanks to the new Zayed Centre for Research into Rare Disease in Children. Pioneer takes a tour of a facility born of a special partnership.

Main laboratory housing 160 bench positions

Artwork by Mark Titchner

Collaboration can be powerful. Particularly when the hard work of philanthropists, academic partners, researchers, design and construction teams, clinical staff, patients and families comes to fruition, as is evident with the new Zayed Centre for Research into Rare Disease in Children.

Six years ago, architects began planning the design of the state-of-the-art new facility, which was created from a partnership between Great Ormond Street Hospital (GOSH), the UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital Children’s Charity (GOSH Charity). A year later, Her Highness Sheikha Fatima bint Mubarak pledged a transformative gift of £60 million, made in honour of her late husband Sheikh Zayed bin Sultan Al Nahyan, Founding Father of the United Arab Emirates. Fast forward to 2019 and their grandson, His Highness Sheikh Theyab bin Mohamed bin Zayed Al Nahyan, visited the centre on behalf of his grandmother to officially unveil a plaque at the Zayed Centre for Research, named in honour of his late grandfather.

Since summer 2019, some of the researchers and patients have been moving into the centre.

A BENCH-TOBEDSIDE APPROACH The Zayed Centre for Research was created to accommodate numerous clinicians and researchers under one roof, a global hub that will attract and connect paediatric experts from around the world. It also brings patients under the same roof, with a 30room outpatient facility that will help fast-track new treatments and cures to the children who need them most.

Over the coming years, researchers will focus on three themes at the Zayed Centre for Research: approaches to pioneering cell and gene therapy, advancing genomics and bioinformatic (DNA and data) expertise, and developing new regenerative medicine therapies.

The building therefore includes an advanced suite of cleanrooms to produce gene therapies, multiple tissue culture rooms for testing potential new treatments, a cardiac research suite with facilities for 3D modelling, as well as an open-plan laboratory with more than 160 laboratory bench positions.

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THE AREAS OF RESEARCH DNA AND DATA In the centre of our cells, the nucleus holds our genes in the form of DNA, a helix-shaped molecule that contains the ‘instruction manual’ for human life. Molecules within our cells are constantly ‘reading’ this rulebook to keep our bodies functioning. At the Zayed Centre for Research, genetic scientists will investigate how certain genes and genomic variants ‘misread’ the manual and cause rare childhood diseases. Its revolutionary genomics facility will both help researchers to develop a stronger understanding of disease-causing genes and use this information to create transformative new therapies.

CELL AND GENE THERAPY Researchers are developing new gene therapy approaches to offer transformative and curative therapies for a wide range of genetic diseases. These include immune system disorders, metabolic diseases, muscle-wasting conditions and cancers.

So, what does gene therapy involve? One approach involves inserting a working copy of a faulty gene into a patient’s own cells, so they start to work correctly.

This targeted approach not only has potential to cure a disease, but could also result in far fewer side effects than other, more invasive, treatment options.

In 2001, GOSH patient Rhys became the first to be treated with gene therapy for severe combined immunodeficiency (SCID) – a condition that leaves the child without a working immune system. The treatment was delivered as part of a groundbreaking research trial led by world-leading researchers, Professors Bobby Gaspar and Adrian Thrasher. Since then, more than 70 children have been treated with gene therapy for immune system disorders at GOSH. The Zayed Centre for Research will now enable researchers to build on the success of gene therapies for immune system disorders and help increase the scope and scale of this exciting area of research. They’ll use the largest dedicated clean room facility of its kind in Europe, which houses seven highly specialised labs where cell and gene therapy-based medicines can be developed.

Plant

Cell & Gene Therapy

GMP Suite

Workspace

Regenerative Medicine

Workspace

Outpatients

Genomics & Bioinformatics Lab A

Seminar Room

Outpatients

Lab B, Tissue Culture Rooms, Cardiac Research Suite

Plant

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Outpatients

CREATING STEM CELLS IN THE LAB Stage 1.

Patient cells

Sample taken from a patient.

Eg hair, blood or skin.

Reprogramming or editing under special conditions in the lab.

Stage 2.

Stem cells Special conditions to turn stem cells into desired cell type.

Patient-specific stem cells created.

These are able to turn into almost any cell in the body.

Stage 3.

Stem cells become desired cell type.

REGENERATIVE MEDICINE What constitutes regenerative medicine? It’s any treatment that restores normal function to tissues or organs, with an emphasis on harnessing the body’s natural ability to repair itself. It tells us that treating symptoms is only a temporary solution. Tackling the root cause of the disease is the path to real progress.

The Zayed Centre for Research houses a state-ofthe-art stem cell facility that will allow researchers to develop new stem cell treatments for children with rare and complex conditions. Stem cells are special cells that can turn into almost any other type of cell in the body. Major scientific advances mean stem cells can now be sourced from adults or even created in the lab, revolutionising the way we approach medicine.

Scientists based here will use world-leading facilities to transform cells from a patient’s own hair or skin into stem cells, called induced pluripotent stem cells.

Researchers then hope to use these cells to create new tissues tailored to an individual, which could have huge implications for patients at GOSH. For example, it has the potential to save a child’s sight, build new organs or find treatments for complex nerve disorders.

PUTTING THE PATIENT FIRST Heart cell

Immune cell

Nerve cell

Stage 4.

Cells can be used to test drugs, understand diseases or even transplanted back into patients.

Dedicated to meeting the needs of children and their families, the Zayed Centre for Research houses 21 consultation rooms and eight clinical investigation rooms across the ground and first floors of the building, as well as offering a new outpatient facility.

Over the coming years, Cardiology, Respiratory, Genetics, Immunology and Dermatology teams will run outpatient clinics here. Initially aiming to see around 200 patients each day, it’s predicted to increase within three years. For many of these specialities, it’s the first time all clinical investigations can be done in one area, meaning less waiting time and a smoother outpatient experience for families.

All the modern facilities have been designed especially with children in mind and built for purpose. Two waiting rooms are flooded with natural light generated by the two-storey atrium and, from there, there are views down into the main laboratory where families can watch science in action. There is also a new sensory room and educational play activities to help children understand what’s happening with their bodies and how research can help them.

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DID YOU KNOW? The Zayed Centre for Research aims to be the principle UK centre for research into genetic skin disorders and severe inflammatory skin conditions affecting children.

There’s a Cardiac Research Suite where researchers can produce 3D models of the heart to plan surgeries and help children understand why it’s important and what’s going to happen to them.

The pulmonary hypertension clinic in the Zayed Centre for Research is the only outpatient clinic of its kind for children in the UK.

A CREATIVE ENVIRONMENT An integral element of the Zayed Centre for Research is to ensure it’s an inspiring, playful and welcoming environment for patients and their families. Art installations were commissioned to convey the importance of research into rare diseases.

During her time as artist-in-resident at GOSH, Dana Al Mazrouei led creative workshops exploring the theme of genetics with children, young people and their families.

Her residency inspired an artwork for the Zayed Centre for Research’s courtyard garden – The Same and Different – a series of tactile, circular artworks that represent a visualisation of a genome – the entire set of DNA in a body’s ‘instruction manual’. Each artwork uses the same circular shape with an individual pattern and combination of colours that symbolise the similarity, but uniqueness, of a human genome.

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In a celebration of this spirit of community and collaboration the Zayed Centre for Research hosted the inaugural Together Festival in September. It brought this unique building to life through dance, song and art by animating the spaces, ideas and aspirations behind the centre’s conception.

Susie Hall, Head of GOSH Arts, says: “The festival was an opportunity for the GOSH community to come together and celebrate creativity and collaboration. There was something for everyone with workshops, performances, talks and screenings.”

This is just the beginning for the Zayed Centre for Research, as the door opens wider onto significant advances in children’s medicine.

MEET MELA, AGE NINE Nine-year-old Mela has been coming to GOSH since she was a baby. Born with a rare craniofacial condition called Apert syndrome, many of her bones, such as her hands, feet and skull, were prematurely fused together while she was still developing in the womb. It affects her in many ways, including her eating, hearing, breathing, walking and speech.

“From the day Mela arrived at GOSH, we knew our beautiful daughter was in good care,” her mum Paula says. “The staff were incredible since day one when Mela came into the world. In the last eight years, Mela has had more than 20 surgeries. She has had springs put in her head to ease the pressure on her brain and she will continue having surgery as she grows to make sure she’s as comfortable as she can be.

MEET HUDSON, AGE TWO Children who could benefit in the future from further clinical trials include young patients like two-year-old Hudson, who has oesophageal atresia, a rare condition affecting nearly 250 children in the UK each year. The condition from birth results in an incomplete oesophagus, which ultimately impacts a baby’s ability to feed, as well as their long-term health. His mum, Nicola, first became aware of the condition during a routine pregnancy screening, when a scan revealed his abdomen was especially small compared with his identical twin, Hank.

Hudson was referred to GOSH, where Professor Paolo De Coppi recommended a gastric pull-up, lifting his stomach up towards the chest in order to connect the throat directly to the stomach. As a result of the procedure, Hudson can now enjoy some of the same foods as his twin but needs continued feeding support.

Nicola says: “Hudson just wants to play and do the same things as his twin and other brother. There are things we take for granted, which we don’t even think about doing, like breathing while eating.

Hudson sometimes struggles to do both at the same time, so he must eat with care. Explaining to any two-year-old why they need to sit and eat slowly is quite tricky, but his wellbeing and life depend upon it!”

Speaking of the research, Nicola adds: “Having the gastric pull-up has helped my son thrive, but the latest research has the potential to change the lives of other children with Hudson’s condition.”

“Every time she’s had to have a procedure, it’s been very intense and emotional for our family. It’s never easy watching her fall asleep under general anaesthetic. But no matter how difficult times have been, Mela’s been surrounded by doctors that know what she likes, what she doesn’t and what makes her feel comfortable. After every surgery, they give her the space she needs, but check up on her regularly!”

Mr Owase Jeelani, Consultant Paediatric Neurosurgeon, who works very closely with the Craniofacial team, has operated on Mela. “Mela was one of the youngest patients to have a specific type of neurosurgery,” Paula explains. “He took his time with each child and was joking with Mela. He even checked on her early the next morning. That melted my heart.

“Because the severity of Apert syndrome varies so much, Mela is closely monitored and has regular appointments at GOSH. Every year her team of specialists assesses how she’s progressing and decides what needs to be done next to improve her wellbeing. I can’t fault the care we’ve received at GOSH. We’ve been in very good hands all round.”

L-R Professor David Dunaway and Mr Owase Jeelani

The successful separation of Safa and Marwa was possible thanks to hospital-wide teamwork.

PIONEER INTERVIEW The successful separation of conjoined twins Safa and Marwa at GOSH hit the national and international press. Pioneer talks to GOSH’s Consultant Paediatric Neurosurgeon Mr Owase Jeelani and Consultant Plastic and Craniofacial Surgeon Professor David Dunaway, who headed up the twins’ surgical team, about the crucial roles charity funding and hospital-wide teamwork play in these life-changing treatments.

How many people at GOSH were involved in the separation of the twins?

How does charity funding contribute to this type of surgery?

Owase: More than 100 people came together but, with surgery like this, everyone, from the chief executive to the bed managers to the janitors, plays a part. If it weren’t for all elements of the hospital coming together, particularly those people that make the place run efficiently, this kind of surgery couldn’t have happened.

The saying ‘standing on the shoulders of giants’ rings true here: we are also standing on the shoulders of our colleagues such as the engineers, computer software and 3D modelling experts. We perform the surgery, which showcases the work publicly, but if you put us in the middle of nowhere without the support teams, it could not have happened.

David: When these surgeries happen at GOSH, what’s important to know is that it’s not in isolation. For example, the Beckwith family, whose grandson has Crouzon Syndrome, (a rare, genetic condition that causes the craniofacial bones to fuse prematurely) set up the craniofacial project Face Value in 2012, of which both Owase and I are co-directors. GOSH Charity has also been helping to fund the programme, with research into morphometrics, brain anatomy, surgery techniques and devices, which we’ve been rehearsing and improving on.

You were both involved in the separation of rare craniopagus (joined at the cranium) twins at GOSH in 2006 and 2011. Was the surgery involving Safa and Marwa more complex?

“Charity funding is critical, and the relationship between the hospital and charity must be emphasised.”

David: While this surgery wasn’t performed any differently to the others, we did have more knowledge because of technological innovations over the last few years. Great Ormond Street Hospital Children’s Charity (GOSH Charity) has supported further pioneering research by helping to fund innovative techniques, including virtual reality, 3D planning and printing. That means the quality of imaging has significantly advanced, the methods of analysing the imaging are much better, the 3D technology and 3D printing are great. Being able to print the blood vessels (in 3D), in more detail, and to see how we were going to separate them, was very helpful.

In addition, because Owase and I have been working so long with the hospital’s teams, the expertise for interpreting each other’s work is there. When you speak to the radiologist, for example, he understands twins’ brain anatomy and he gets on to the fine detail.

And everyone knows how we work, meaning we are all delivering relevant information to each other. Hopefully with the next set of conjoined twins we’ll be able to approach it in an even more sophisticated way.

Owase and I had a vision about what we wanted to do via Face Value. The programme has really helped us in the understanding of what the brain does when the shape of the head is changed.

That was key to the twins’ surgery.

Furthermore, operations on Safa and Marwa were performed in Theatre 10, a specialist theatre GOSH Charity has helped fund.

Owase: Charity funding is critical, and the relationship between the hospital and charity must be emphasised. It allows funding for all the extra elements above and beyond what the NHS can provide – including funding pioneering medical research, the most up-to-date, state-of-the-art medical equipment, creating hospital environments that are fit for purpose, plus all the children and family support services, from the play team to parent accommodation – that really makes a difference.

David: Another example is that the UCL Great Ormond Street Institute of Child Health (GOSH’s research partner) wouldn’t be here in the same way if it wasn’t for the charity. In addition to funding into research, it gives a degree of discipline and focus.

How did you work with other teams across the hospital that were essential for this surgery?

Owase: The virtual reality component happened because we were having a drink with the cardiac PIONEER 23

research team, people we never usually meet daily. They had a student with them, who had been given the task of producing VR models of the heart. We were talking about how difficult it was to picture two conjoined brains in 3D and the student said he would produce a VR model for us.

A few weeks later we went to check out what he’d created, and we were blown away. What he’d produced made my month – and was a crucial element of the surgery.

Collaboration between the hospital’s teams is therefore vital?

Owase: Excellence doesn’t happen in isolation. That happens when you have different teams, different ideas, working together, particularly teams that have worked together for a long time. One of the key aspects David and I have noticed is, when we’ve had surgeons visit us from all over the world, they comment on how well we gel with our academic people, our engineers, our

software experts. Other hospitals have those too, but what they highlight to us is ‘you guys really talk to each other’. I believe the real gift of what we’ve achieved here [with the conjoined twins’ surgery] is the translation of expertise across different disciplines. We understand to a degree what the software means, they understand to a degree what happens in the theatre and that’s the magic. When an engineer really understands surgery, they come at it from a different angle and thinks about other elements.

How does performing such a complex operation affect the team?

Owase: These types of critical operations happen at GOSH all the time, so anyone who works here takes on a big emotional load, which needs to be recognised.

Everyone that works at GOSH does so because they care about children. Yes, this type of surgery is super complex and daunting, but we have a team that works together and really understands each other.

SAFA AND MARWA’S STORY Separating conjoined twins requires complex surgery.

GOSH is one of the few hospitals in the world that offers the expertise, facilities and infrastructure for such surgery, and is internationally recognised for having successfully treated more conjoined twins than any other hospital.

Following consultation with their doctors in Pakistan, twins Safa and Marwa, who were conjoined at the top of the head (known as craniopagus), came to GOSH in August 2018 when they were 19 months old.

In Autumn that year they arrived on Bumblebee Ward and began the four-month, four-stage separation process. Alongside neurology and craniofacial teams, a whole host of specialities from across the hospital worked together to separate the girls, including nurses, radiologists, bio-engineers, physiotherapists and psychology experts. Safa and Marwa were discharged from GOSH in July and are now receiving ongoing rehabilitation.

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TRAILBLAZING TECHNOLOGY GOSH experts created an exact replica of the girls’ anatomy using virtual reality, which helped the surgeons visualise and understand the complex skulls and spatial relation between brains and blood vessels.

3D plastic models of the brains, skulls and blood vessels were then printed for practicing the surgery and building cutting guides to make the operations as smooth as possible.

The first step was to do a detailed assessment of the twins, their brains and the blood vessels and how they join together.

Next, the skulls and soft tissues were studied, and then a detailed plan was drawn out. For the first two to three procedures, the focus was on separating the brains and the blood vessels. Once this was successfully done, a piece of plastic (shown in diagram 3) was put between the two brains; internally, this meant there were now two separate children.

1

2

3

The next focus is the skull and skin; tissue expanders stretched the skin and the final reconstruction was done, reconstructing the top of their heads with their own bone and covering the top of their heads with expanded skin. At the end of the final stage, there are two separate babies.

4

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“It’s special for us to attend events and hear the stories of children, parents and doctors. You can see the difference donations make, and it touches our hearts.”

WHY WE SUPPORT THE CHARITY Long-standing GOSH supporters Yvonne and Trevor Walhen are leaving a legacy gift to GOSH Charity. Pioneer talks to them about their decision to do this and the highlights of their 30 years as supporters.

“We began supporting GOSH Charity 30 years ago when our niece was born,” Trevor explains. “We weren’t blessed with children, but we decided to give to a children’s charity on our niece’s behalf. We want to give children the best chance in life and make sure everything possible has been done for them.”

Yvonne agrees. “We’ve included GOSH Charity in our Wills because we thought there was no better legacy we could leave than helping families with children who are seriously ill. It’s something for the future and it means so much to us to be able to do this.”

Yvonne believes that “all the little things add up, even the little GOSH Charity badges we wear. People see the logo and exclaim ‘oh, Great Ormond Street’, and we feel like we’re being ambassadors”. Trevor has also taken part in challenges for GOSH. “I took part in the Hadrian’s Wall walk 15 years ago, over three days, with two nights under canvas,” he says.

Yvonne and Trevor recently attended a GOSH Charity Gift for the Future event. Held at the hospital, these events show legacy supporters how a gift in their Will can help improve young lives for generations to come, with talks from senior hospital staff and guided tours.

“The Gift for the Future event blew us away,” Yvonne says. “We’ve done four tours of the hospital over the years. A lot has changed since we were last here, with all the new buildings and equipment,” Trevor adds.

The enthusiasm and passion of the staff is another reason why Yvonne and Trevor support the charity.

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“They’re so patient with everything, dedicated to not only helping the child who’s ill but also supporting the family,” Yvonne explains. “There’s such a special feeling at GOSH. It doesn’t feel like a normal hospital and that must be so important to help children to relax when they arrive. All the elements of care are key – it’s like a big jigsaw full of love.”

Over the last eight years, the couple has attended the GOSH Christmas Carol Concert. “It’s special for us to attend events and hear the stories of children, parents and doctors,” Yvonne says. “You can see the difference donations make and it touches our hearts. Attending the Christmas Carol Concert is part of our Christmas now and I particularly love the part at the end when the ‘snow’ comes down.” Trevor adds that “at a GOSH Charity Christmas silent auction, we bid for a stay in Salcombe, Devon. This led to an ongoing friendship with the donator, and we donated to the charity for future stays at her apartment.”

Trevor and Yvonne talk fondly about GOSH Charity events they have attended over the years, and they remember one in particular – when they met a former patient and his family. “We were at a table with this family, which was lovely as we got to know them,” Yvonne explains. “The main item in the raffle was a diamond and the boy was asked to pick out the winning ticket. He looked at it and said, ‘oh mummy is that okay?’ as it was her ticket!

“The whole room cried,” she says. “His speech was lovely. I remember he said, ‘I’d like to say thank you to all the nurses I was sick all over.’ It was amazing that, after all he’d endured, he could speak so confidently at an event and pick out the prize for his mum.

“We’ve given to GOSH as much as possible and we’ll continue doing this,” Yvonne says. “Every opportunity we have, we tell people about the amazing things that happen here. There are so many children that can be helped and it’s such a special, worldrenowned hospital.”

“It’s so important to support GOSH because health means absolutely everything,” Yvonne adds. “At GOSH, there are big open arms to make things better.”

LEARN MORE ABOUT LEGACIES GOSH Charity’s informal Gift for the Future events are free of charge for those thinking of leaving a gift in their Will, and for those who have already made that decision to help future generations of patients at GOSH. Event dates for 2020 are: • Tuesday 9 June 2020, 11.30am-3pm • Thursday 9 July 2020, 11.30am-3pm • Thursday 10 September 2020, 11.30am-3pm • Thursday 1 October 2020, 11.30am-3pm • Tuesday 20 October 2020 11.30am-3pm To book a place for you and a guest, contact Judy Anderson from our Legacy team on 020 3841 3205 or email legacy@gosh.org. Judy can also help with any questions about legacies or you can visit gosh.org/donate/leave-gift-in-your-will.

CHRISTMAS CAROL CONCERT

GOSH parent Clive Mear spoke about his daughter Ava’s life-saving treatment at a Gift for the Future event.

This year’s Christmas Carol Concert is on Tuesday 10 December 2019. You can buy tickets at GOSHcarolconcert.com. If you have any questions about the concert, please email carol.concert@gosh.org or call 020 3841 3044.

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Five-year-old Monica, who receives kidney dialysis at GOSH, takes part in the bedside learning provided

by GOSH School

The importance of

Educatio n

Education is an integral part of a child’s life and that’s no different for the children attending the school at GOSH. Pioneer finds out what the pupils can look forward to in 2019/2020.

Achievement, continuity and enjoyment. That’s the longheld ethos of the Children’s Hospital School at Great Ormond Street Hospital (GOSH), which has two sites, one at GOSH and one at the nearby University College Hospital (UCLH). It’s the ethos that Headteacher Jayne Franklin and her 45 staff are keen to highlight as the school heads towards its 69th birthday next year. For Jayne and her team, the school’s future will continue its holistic approach to learning, as national awareness of the importance of education for children with medical needs continues to grow.

The school is available to children at the hospital between the ages of three and 18. Legally, children with medical needs must receive education as suitable as their health will permit if they are away from their home school for more than 15 days. When they come to GOSH, they’ll find a range of staff experienced in special educational needs, early years, and fluent in several languages.

Or, the children and family can decide to follow our own curriculum; for example if we are running a themed project such as Shakespeare Week. We assess all their work and communicate regularly with their school via virtual meetings and work with the families.

Assessments and planning are bespoke because every child’s needs are different.”

“Teaching is predominantly conducted on a one-to-one basis at the children’s bedsides... although children who are well enough to leave the wards come to the classroom.”

Being able to offer an element of continuity in the pupils’ lives is a driving factor behind the school’s outlook, but each family’s needs are considered first.

“Most families say that engaging with the school has helped them, particularly from a psychological point of view,” Jayne says. “We should never underestimate the resilience of children and young people; education helps build a better future for them.”

GOSH’s ethos of the putting the child first and always runs through the school’s culture. There is a Communications Officer who works to ensure children are fully assessed on entry and reintegrated with their own school successfully on discharge. Furthermore, the teaching is predominantly conducted on a one-to-one basis at the children’s bedsides, across up to 20 wards, although children who are well enough to leave the wards come to the classroom.

Jayne explains: “Our personalised curriculum, although based on the National Curriculum, is as innovative and creative as possible to engage and motivate children.

Some children may also bring their own schoolwork so we’ll support them in any way we can to provide that continuity of learning.

“A child might tell us they’re reading Hamlet for GCSE and the English teacher here will communicate with the home school and deliver teaching at the bedside.

Jayne Franklin, Headteacher at GOSH School

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“The hospital’s leadership team is hugely supportive of education.”

Jayne Franklin

HOW GOSH CHARITY PLAYS A PART While the school is funded by the Department of Education, Great Ormond Street Hospital Children’s Charity (GOSH Charity) funding has played a vital role in providing additional learning elements that directly benefit pupils. The charity has helped contribute towards staff for holiday clubs’ provision, which now extends across the whole six weeks of the summer holidays, a week at Easter and all three of the half terms.

This has been particularly beneficial for siblings, allowing the families to come together during the holidays.

“Charitable funding, including donations and fundraising from GOSH Charity corporate partner Morgan Stanley, has also helped us provide bedside teaching, as well as buy new equipment such as iPads,” Jayne explains. “We can also invite magicians, musicians, artists, as well as organise sessions with our partners such as the National Portrait Gallery for those holiday activities.”

The children, too, are keen to engage in fundraising for the charity. GOSH School’s maths teacher, recognising how big a part young enterprise plays in secondary school education, introduced the six-week Enterprise Project to the school. The last time it ran, pupils developed machine-sewing skills, learnt about costs and profit margins, marketing and design, and made iPad bean bag stands, which they sold in the hospital lobby to raise money for GOSH Charity.

A MULTI-DISCIPLINARY APPROACH Public Health England has highlighted that education is a strong predictor of an individual’s future health.

Jayne explains that the hospital’s leadership team are hugely supportive of education and have a genuine passion about what happens holistically around the child. A year ago, Jayne helped found the new National 30 PIONEER

Association for Hospital Education, which all staff are now members of, so it could connect with politicians and health providers nationally and internationally.

GOSH School has certainly been recognised at an international level; Jayne was recently asked to be a keynote speaker at the Health Educators Learners Parents (HELP) conference in Brisbane, Australia, where she spoke of the impact of holistic approaches to child outcomes at GOSH. “We also work closely with GOSH’s multi-disciplinary teams, from physio to speech and language therapists, educational therapists and consultants, feeding back about learnings,” she adds. “We’re all thinking about what happens to the child when they leave the hospital to make sure the families get the support they need. Anything we can do to widen the message that education makes a difference is so important.”

THE SCHOOL’S FUTURE Technology plays a huge part in the way the school operates and Jayne envisages this evolving. “At the end of each term we hold a celebration, where we give out awards to the pupils. It was last hosted in the hospital chapel and we were able to engage children and families on the wards using FaceTime on iPads,” she explains.

The school also makes use of Google+ Communities, which are set to private for teachers and pupils. “Pupils can comment on each other’s work, which is an important step to avoid feelings of isolation,” Jayne adds. “We make animations with handheld flip cams and we’re looking at different models of robotics so children can connect with their home schools. We want to give them every chance to gain more access to the outside world.”

The school’s vision is clear: gaining greater access to education for children in hospital. “We must continue to develop research into the importance of education in hospitals, so it has an impact both nationally and long-term,” Jayne adds. For Jayne and her team at GOSH School, that’s combined with looking for more available spaces in which to deliver education and to integrate technology.

OUR SCHOOL Jennie’s daughter Sarah attended GOSH School last year while she was being treated at GOSH with chemotherapy. Jennie, who became a governor of the school in March 2019, tells Pioneer how important the school was. “For Sarah, who was in Year 6 at the time, the school was a lifeline. There were some days when the only thing she wanted was a lesson, as it provided a sense of normality in an abnormal situation.

“Sarah had the same teacher throughout and it was someone she could talk to as well as learn from. The teacher was great at seeing the areas Sarah was interested in, such as reading and history. The bedside learning was an important way for Sarah to cope with her treatment.

“Initially, schooling wasn’t at the forefront of my mind but, as soon as I met the teacher, it all made sense, and they were excellent at communicating and working with Sarah’s home school. She missed the social side hugely but having the school at GOSH really helped.

“I was approached by one of the teachers about becoming a governor here and spoke to Sarah about it before accepting. Her response was interesting; she said the hospital school was one of the things that kept her going during a difficult time. There’s a lot for me to learn, but I would like to see how we can integrate with the medical teams even more effectively and maintain how important school is for patients on a psychological level.”

CURRICULUM HIGHLIGHTS Visiting the Bank of England where younger students designed their own coins and older students discovered more about economics.

Creating fantastic artwork, from sculptures built from collage materials to mobiles inspired by the solar system.

Using the game Minecraft for Education in STEM lessons, where pupils in the school room and on the wards met, via their avatars, in the virtual worlds and worked together to build and problem solve.

Dancing, singing, sewing and building Lego.

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Global relationship reaps rapid results Following the approval of Burosumab – a treatment for a rare form of rickets – for use on the NHS, Pioneer discovers how GOSH’s world-leading Clinical Research Facility played a key role in its international research study.

Great Ormond Street Hospital (GOSH) was asked to invite patients to participate in an international research trial for Burosumab, a targeted drug designed to improve growth in children with X-linked hypophosphataemic rickets (XLH), a rare condition that causes bone deformity, pain and muscle weakness. The trial’s positive results led regulators to rapidly authorise the drug, with the National Institute for Health and Care Excellence (NICE) approving it for NHS use from January 2019.

Pioneering research opportunities like this are partly available thanks to the world-leading National Institute of Health Research (NIHR) Clinical Research Facility (CRF) at GOSH and its multi-disciplinary teams. Dr William van’t Hoff, Director of the CRF and trial lead at GOSH, tells us more about Burosumab and how international collaboration is key to research.

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XLH EXPLAINED “XLH is a rare genetic condition, affecting around 300 children in the UK, where the kidney is unable to retain enough phosphate,“ Dr van’t Hoff says. “Losing phosphate causes bones to become weaker and liable to bend.

“GOSH Charity’s support remains crucial... giving children the opportunity to participate in these trials.”

“Children develop rickets in their first year of life, so babies with the condition are slower to stand and walk. A genetic condition, around half of diagnosed children have a parent who is affected – in that case, the newborn baby can be tested at birth and the treatment can start earlier.

“Traditional treatments caused side effects such as kidney and hormonal complications as well as stomach pain, which naturally made it harder for children to take their medication. On Burosumab, however, children report less pain and X-rays show a 50% reduction in disease severity with significantly improved growth rates.”*

GLOBAL OPPORTUNITIES “We were invited to participate in the global study, in partnership with Ultragenyx Pharmaceuticals and colleagues in the US, the Netherlands and France, as well as with the NIHR CRFs in Manchester and Birmingham,” Dr van’t Hoff says. “At GOSH we have a purpose-built facility for children participating in research, which has a multi-disciplinary staffing dedicated to a safe and effective environment for trials. *Source: Data from the NIHR Website

“It’s uncommon for just one children’s hospital to have enough patients to provide meaningful data on rare diseases, so the key to improving children’s health research is working together. That said, at GOSH, our co-ordinated patient groups and expert clinical care put us in a great position to offer our facilities for trials of new treatments.”

FAMILY COMMITMENT “When a research study has passed all its regulatory and ethical approval, we can offer eligible patients a chance to participate,” Dr van’t Hoff explains. “It’s a big commitment for families to participate in a research trial. The process can be long and intensive, because it's important to include added safety and effectiveness checks with a new treatment.

“They will initially have weekly or monthly visits, including blood and urine tests to check everything is safe. The children and families also commonly complete questionnaires about how they feel and the impact on the family.”

“At GOSH, our co-ordinated patient groups and expert clinical care put us in a great position to offer our facilities for trials of new treatments.”

Dr van’t Hoff explains how participating families agree to inform the team of any adverse event that happens during the trial – from a nosebleed to wanting to take a multivitamin – demonstrating the importance and rigour of support and safety.

“Undertaking research for pharmaceutical companies is conducted in a regulated way and the services we provide as a public health organisation are costed and revenue-recovered, so the NHS isn’t subsiding the company,” he adds.

INTERNATIONAL IMPACT “The four GOSH patients who went into the trial were already well-treated but the outcome of this particular trial saw improvement in their rickets,” Dr van’t Hoff says.

A report on the trial was published in the prestigious New England Journal of Medicine, leading to a rapid decision by regulators to authorise the drug for use on the NHS. Dr van’t Hoff adds: “Great Ormond Street Hospital Children’s Charity (GOSH Charity) has played a pivotal role in setting up the CRF and seeing it through its early years. Its support remains crucial for developing new therapies and giving children the opportunity to participate in these trials. The NIHR clinical research system also allows collaboration across different centres in England, attracting global pharma companies to offer new treatments to patients.”

SKYE’S STORY Skye, 13, took part in the trial at GOSH and now he and his sister Phoenix, aged eight, both take Burosumab. Their mum Leonie tells Pioneer more: “Phoenix and Skye were both diagnosed with XLH at six weeks old, as my first son already had the condition. We saw the signs of rickets soon after Skye and Phoenix started walking. They both had bowed legs, problems with their gums and teeth, and very painful joints.

“They had to take daily medication and attend GOSH every six weeks for blood tests and urine samples. This wasn’t easy when they were babies, but my children have never said ‘I don’t want to go’ because the staff at GOSH are so amazing.

“Skye was happy to take part in the trial, as Burosumab involved having an injection once every two weeks, instead of taking daily medication.

“Since Skye took part in the trial, he’s never looked back! He hasn’t had one cyst, and he only has leg pain when he’s done lots of football or running.

“Without Burosumab, it wouldn’t be possible for Skye and Phoenix to be the sporty children they are today. After more than 23 years of experience with XLH, I know Burosumab is a life-changer.”

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PARENT’S PERSPECTIVE

BY SHEVONNE, HENRY’S MUM Henry was born at term but was transferred to a special care baby unit in Hull immediately due to respiratory concerns and suspected gastric issues. He had a colostomy and two holes in his heart were discovered.

After a few days his breathing became irregular and, on transfer to our regional hospital (Leeds) a diagnosis of long segmented tracheal stenosis and left pulmonary artery sling was confirmed. Henry’s windpipe (trachea) was 1.5mm wide; it should be 6-8mm. His left pulmonary artery was also passing between the trachea and oesophagus, wrapping around his windpipe, and 34 PIONEER

his trachea was made of complete cartilage rings, which wouldn’t have grown with him.

At five weeks old Henry was transferred to Great Ormond Street Hospital (GOSH). My husband and I felt apprehensive as it confirmed his condition’s severity, but we were grateful he had a chance. GOSH has a specialist tracheal team that devised the slide tracheoplasty surgery for Henry’s condition – a procedure to widen the windpipe and make it easier to breathe.

Henry had this surgery, and his pulmonary artery reimplanted, in December 2017. His left vocal cord was paralysed during the airway

surgery; we didn’t know whether he would ever have a voice. He recovered but required 24 hours of Continuous Positive Airway Pressure (CPAP) ventilation for three months.

Then, doctors attempted to wean him from constant ventilation at our regional hospital.

During this time, he had a respiratory arrest. Leeds stabilised him on life support but, after three weeks of no progress, he was transferred back to GOSH’s Cardiac Intensive Care Unit (CICU).

With its specialist knowledge around his condition the team was able to move him from life support back to CPAP. Henry went through a period of transitioning between

life support and CPAP. It was a very worrying time as they couldn’t keep his airway safe. There were many occasions when we almost lost him.

In 2018 Henry was given airway stents [devices to keep the trachea open] – although was still unable to manage breaks from CPAP – as well as other gastric surgery and the formation of a gastrostomy [a feeding device directly connected to the stomach] as he was unable to eat or drink orally while on CPAP. He was then given a tracheostomy [a breathing tube fed through a hole in the throat] to secure his airway and prevent repeat intubations.

When Henry spent nine months on Flamingo Ward, home to the CICU, my husband and I stayed at GOSH’s nearby parent accommodation, which is funded by the charity, and this was invaluable. Once we left intensive care, I could stay with Henry on Kangaroo Ward, but my husband returned to work. GOSH provided accommodation for my husband, who was travelling 300 miles each weekend from Yorkshire, allowing him to learn how to care for Henry’s medical needs and giving us time to bond as a family.

Henry is also supported by the specialist Endocrine team at GOSH and the Clinical Nurse Specialist (CNS) for Tracheostomies also showed us how to properly care for Henry’s tracheostomy. Physiotherapists were essential to Henry’s care too and a Long-Term Ventilation Nurse trained us to feel confident in managing Henry at home.

During the 15 months we spent in hospital with Henry, the Tracheal Service co-ordinated our care with the CICU and the respiratory team.

We felt completely informed and at the centre of our child’s care.

The collaboration across disciplines at GOSH, and with us as parents, was phenomenal.

“Life is exhausting but hopeful. We have a chance that Henry will grow and, as he does, some issues he currently has will hopefully become less of an issue.”

Henry was discharged in January 2019 and is now 23 months old, running and exploring at every opportunity. As he is ventilated 24 hours a day my husband and I wear his ventilator like a backpack. He loves being read to, playing in water and on swings, nursery rhymes, musical instruments, drawing and blowing kisses; it was one of the first sounds he made with his lips once he was used to the tracheostomy. He also enjoys hoovering! Henry is such a happy boy, reaching milestones even after all he’s faced – we call him Heroic Henry.

The only developmental delay Henry has is with his speech because the tracheostomy prevents him talking.

But he can make vocal sounds, which is so heart-warming when

we didn’t know whether he would ever be able to talk. We’ve been teaching him Makaton [a language programme using signs, symbols and speech to communicate] and he now has 40 signs he uses.

Life is exhausting but hopeful. We have a chance that Henry will grow and, as he does, some issues he currently has will hopefully become less of an issue.

Our amazing friends and family have supported us by fundraising for Great Ormond Street Hospital Children’s Charity (GOSH Charity).

Henry’s Uncle Tom ran the London Marathon twice, his grandparents and great grandparents held cake sales and raffles and our university friends took part in sponsored climbs up Snowdon and held Superhero walks around the world. This summer, we held a Superhero walk in our hometown of Bridlington, which Henry was able to take part in.

We have visited GOSH four times since returning home, having reviews from all the teams, plus regular contact with GOSH’s tracheal CNS, cardiologists and surgeons. Henry spent his first birthday and two Christmas’ at GOSH and had his christening in the GOSH chapel – many staff attended! We want to thank everyone, from the clinicians, play workers and the GOSH Arts team to domestic staff and volunteers.

GOSH is a truly wonderful place and we were, and are, so lucky to have access to so many experts.

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Great Ormond Street Hospital Children’s Charity 40 Bernard Street London WC1N 1LE 020 3841 3131 gosh.org/pioneer Great Ormond Street Hospital Children’s Charity. Registered charity no. 1160024.

Thank you to all the patients, families and staff who took part in creating this edition of Pioneer.

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