Pioneer Magazine Summer 2019

SUMMER 2019 Great Ormond Street Hospital Children’s Charity

THE IMPORTANCE OF PLAY Discover how play can help children’s health and recovery

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

A CENTRE FOR SIGHT AND SOUND The first dedicated facility for children with sight and 1 hearing lossPIONEER in the UK

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CONTENTS

WELCOME

04 NEWS Stories from around the hospital and charity.

06 I HAVE…HYPERINSULINISM Lewis tells Pioneer how an improved treatment has changed his life.

08 COVER STORY THE JOURNERY TO A CURE FOR CHILDHOOD CANCER Researchers are using patients’ immune cells to destroy cancer cells. Pioneer finds out how the innovative treatment works.

12 FREDDIE’S TRANSFORMATIONAL TREATMENT Eleven-year-old Freddie has a rare condition and has taken part in the 100,000 Genomes Project. Pioneer meets the team supporting him through his journey.

16 DESIGNING A CENTRE FOR SIGHT AND SOUND Pioneer discovers how the UK’s first dedicated medical facility for children with sight and hearing loss is being shaped by GOSH patients.

22 THE PIONEER INTERVIEW GOSH’s new CEO Mat Shaw discusses his background, personal experience of the hospital, and what he hopes the future will bring for GOSH.

24 THE IMPORTANCE OF PLAY Pioneer explores how play impacts a child’s health, and how it is becoming an essential part of treatment at GOSH.

28 WHAT INSPIRES PEOPLE TO GIVE TO GOSH? Keith Timpson and Elaine Bruty – Why they were inspired to support the charity with a gift in their wills.

29 GIFT FOR THE FUTURE EVENTS Thinking of including us in your Will?

Here’s a special chance to visit the hospital and find out more.

30 SURGERY IN THE WOMB

I’m thrilled to join Great Ormond Street Hospital Children’s Charity (GOSH Charity) as the new Chief Executive. Before joining GOSH Charity, I was at Barnardo’s, a charity helping vulnerable children and young people. I’m hugely passionate about supporting children and determined to help create a better future for the many seriously ill children at GOSH. As I write this, it’s my first day at the charity and I’m hugely excited to begin by welcoming you to this edition of Pioneer magazine. It’s packed with personal family experiences and some of the most exciting research taking place at the hospital.

In this issue, you’ll find out the latest about the hospital’s foetal surgery programme. GOSH clinicians are part of a team performing incredible surgery on babies still in the womb, as a way of preventing some of the negative effects of a condition called spina bifida.

You’ll also discover how important play is for the children at GOSH. Head of Play, Laura Wash explains how simple yet effective techniques, such as blowing bubbles through a face mask, can transform a child’s hospital experience and protect their mental wellbeing.

This edition even includes a sneak peek of GOSH’s Sight and Sound Centre supported by Premier Inn, a new state-of-the-art outpatient centre being created for children with sight and hearing impairments. There are sketches from the architects, the thought processes of the project team, and ideas from the children and young people who were involved in the building’s design.

Thank you so much for supporting GOSH Charity.

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 at both GOSH and GOSH Charity.

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

Specialists at GOSH tell Pioneer about the groundbreaking surgery now being performed on babies with spina bifida while they’re still in the womb.

34 A PARENT’S PERSPECTIVE When Matilda kept falling over, her mum Georgina knew something wasn’t right – she tells Pioneer about her family’s experience.

On the front cover: Yuvan is being treated for leukaemia at GOSH.

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STORIES FROM AROUND THE HOSPITAL AND CHARITY

1 NEW YEAR RAFFLE WINNER At the beginning of the year we launched our first-ever Megadraw Raffle with prizes including £10,000 cash and a Butlin’s holiday, donated by Butlin’s.

A huge congratulations to Mr Morris (pictured below), who won the New Year Raffle! Mr Morris has 10 great-grandchildren and is a passionate supporter of GOSH Charity. We want to say a big thank you to him for his continued support.

Raffles are a great way to raise funds to support the seriously ill children at GOSH. Thanks to our generous supporters, this raffle raised £253,000! Within a year, these raffles brought in over £800,000 which will be used to buy new equipment, fund the redevelopment of the hospital, pay for ground breaking research projects and support patients and families.

Play our next raffle in September at gosh.org/raffle.

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2 SHARE YOUR VIEWS – OUR SUPPORTER SURVEY This summer we’re asking our supporters to complete our annual survey to tell us how we are doing. We’re hugely thankful for your support, our aim is to better understand your needs and what you would like from GOSH Charity. The survey is an opportunity for you to share your opinions and preferences, and to discover more exciting ways to help the hospital support seriously ill children.

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.

As a thank you, everyone who completes the survey will be entered into a prize draw. We will randomly select five winners and prizes include a two-night hotel stay (such as at Stoke Park Hotel, below), a limited-edition Merrythought teddy bear, a Peter Rabbit mug and toiletry set, or a GOSH hoody.

For any questions on the supporter survey, please call our Supporter Care team on 020 3841 3131 or email us at supporter.care@gosh.org

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3 HELPING CHILDREN BECOME FANS OF SCANS Thanks to the generous donations to our MRI Scanner appeal, which we sent out in May, we’ve raised £230,000 to upgrade our cardiac MRI scanner. This vital upgrade enables the imaging teams to reduce scanning times from 45 minutes to 8 minutes or less. Quicker scanning times mean the teams can scan more children with heart problems, get more accurate images of tiny hearts and start life-changing treatment for sick children, sooner. Children like Connie, pictured below, having her MRI scan at GOSH. Professor Vivek Muthurangu, Head of Cardiovascular Imaging, says: “This upgrade will help us treat more children and we’ll also be able to use the scanner for further research. With the latest software we can continue to be world-leaders in improving cardiac MRI scans, making them faster and more accurate for sick children.”

A huge thank you to everyone who donated to the Survive and Thrive appeal in February.

You helped an important research project that’s helping patients to thrive after heart surgery. The aim of the appeal was to raise £100,000 to fund Dr Kate Brown’s life-changing research project. Dr Brown says: “Thanks to generous donors, we will not only be able to help children survive a traumatic start to life, but we’ll be able to do our utmost to help them thrive and fulfil their potential.”

4 SUCCESSFUL STOCKINGS A big thank you from all the staff, patients and families at GOSH for the huge number of heartfelt messages sent to the children last Christmas. Being in the hospital can be particularly hard during the festive period, but the thousands of messages we received made a huge difference.

The Christmas Stocking appeal raised an amazing £1.6 million for the hospital. Thank you to everyone who sent a message and donated.

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I HAVE...

HYPERINSULINISM Fifteen-year-old Lewis has a condition that causes his blood sugars to become dangerously low. He tells Pioneer how his treatment at GOSH has been life-changing.

When I was little, I used to have three injections a day to manage my condition.

One in the morning, one when I got home from school and then one before I went to bed. They made me feel quite sick and sometimes I missed school because I felt so unwell.

My parents were constantly worrying and checking my blood sugar levels. They would prick the skin on my finger and check it using a blood glucose machine.

It was like that for 11 years.

I have a condition called congenital hyperinsulinism, which is basically the opposite of diabetes. Unlike people with diabetes, I produce too much insulin, which can make my blood sugars low (which is otherwise known as hypoglycaemia).

Hypoglycaemia makes you confused, clumsy and struggle to speak. If it gets really bad it can even make you pass out or have a seizure. Whenever I decide to take up a new hobby, I need to consider my condition. About a year ago, I started going to the gym and I sometimes worried about my sugars getting too low.

I was born with this condition, so I’ve got used to it, but it impacts my life a lot less nowadays.

For the past five years I’ve been on a new medicine that GOSH has given me and it’s so much better. This medication means that instead of having three injections a day, I’m having one injection a month, which is obviously way better. Sometimes after my injection I don’t feel very good for a week or so, and I get a dodgy stomach, but after that I’m alright.

I’ve always had to take tablets three times a day to shrink the gallstones that I have too. They developed as part of the treatment I was having when I was younger.

I used to get excited about my trips to GOSH because we live in Nottingham and it meant a trip to London with my dad. It was nice to make the most out of being in the city for the day. As I got older, me and my dad used to go for walks around London, while my mum stayed back home looking after my sister and brother. They’re younger than me, my little brother is four and my sister is 14. I’m nearly 16.

My first memory of visiting GOSH is being in the playrooms, I played in them quite a lot over the years and I loved it. I met loads of other kids there and the nurses couldn’t have been better. They are great and have helped me through quite a lot.

Every six months I come back to GOSH for blood tests, and a scan to check my gallstones. When

I came back in February, me and my dad saw some nurses walking down the corridor and they recognised me from when I was younger. Small things like that make GOSH really special.

“For the past five years I’ve been on a new medicine that GOSH has given me and it’s so much better.”

Lewis changed to a new treatment as part of research

by Dr Pratik Shah, a Consultant Paediatric Endocrinologist at GOSH. Dr Shah researched long-acting somatostatin analogues (Lewis’ monthly injection) to understand their mechanism and effect on children and young people with hyperinsulinism. The research formed part of his PhD and now means that children like Lewis can now receive one monthly injection instead of 90-120 injections per month.

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The journey to a cure for childhood cancer In a similar way that we use cars and GPS to help us reach a destination, researchers are using patients’ immune cells as vehicles and equipping them with the navigational knowledge to reach and destroy cancer cells.

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his type of treatment is called CAR-T therapy and GOSH has been a driving force in the field for several years. Spearheaded by Professor Persis Amrolia, GOSH led one of the first clinical trials of CAR-T therapy to treat a common form of childhood cancer, known as acute lymphoblastic leukaemia (ALL). Since 2012, GOSH has treated more than 25 patients with ALL from across the UK, as part of clinical trials, and now has its sights set on developing CAR-T therapy for other childhood cancers.

What is CAR-T therapy?

Dr Sara Ghorashian, Consultant Paediatric Haematologist and Lead for Cell Therapies at GOSH, explains the concept of CAR-T therapy: “Immune cells that help fight viral infections are called T-cells. If you have a cold, they’ll go into the tissues around your nose and help to destroy any cells that are infected by the cold virus. They’re very good at that, but they’re not great at doing the same for cancer. This is because they don’t recognise the cancer cells as any different to normal cells. So, we take the T-cells from patients and engineer them to have special structures on their surface, called chimeric antigen receptors or CAR, which can recognise cancer cells. When these CAR-T cells are then given back to the patient, they can hunt cancer cells and kill them. This process is called CAR-T therapy.”

First stop: a treatment for childhood leukaemia Like a newly manufactured car with built-in GPS, these modified T-cells are then cleaned and go through a rigorous quality control process before they’re given back to the patient. Dr Ghorashian says: “When the cells go back into the patient, they feel like they’re back at home. They start moving around the body, recognising it and using their new abilities to kill cancerous cells.”

2013 GOSH led one of the first clinical studies of CAR-T cell therapy for paediatric leukaemia, in Europe.

This study was supported by GOSH Charity.

2019 GOSH became the first UK hospital to offer CAR-T therapy to NHS patients with B-cell acute lymphoblastic leukaemia.

ALL is a severe form of leukaemia that affects around 600 people per year. Most are children aged between two and five years old. Although the outlook for children with ALL has dramatically improved over the last decade, 10–15% of patients still do not respond to standard treatments. But CAR-T therapy offers children and their families the chance of a long-term cure even after treatments such as chemotherapy and bone marrow transplantation have failed.

Giving cells navigation skills The first step of CAR-T therapy is to gather immune cells from a patient’s blood. The cells are then taken to the laboratory, where a specific code of DNA is added to them to create the special CAR structures on the T-cell surface. These CAR structures give immune cells the ability to recognize specific markers found on cancer cells and kill them.

Dr Ghorashian says: “After about a week of growing these modified cells in the lab, we have T-cells with the capacity to recognise the cancer they were programmed to look for.”

In January, 11-year-old Yuvan became the first NHS patient to receive CAR-T therapy that uses the body’s own cells to fight ALL.

A new route to success T-cells used in CAR-T therapy are usually taken from the patients themselves. But these can be difficult to obtain in large numbers if the child is too ill, and manufacturing individual treatments can be cumbersome and expensive. To overcome this, Waseem Qasim, Professor of Cell and Gene Therapy at the UCL Great Ormond Street Institute of Child Health (ICH) and Professor Paul Veys from the bone marrow transplant unit at GOSH have helped pioneer ‘universal’ CAR-T cells, known as UCART19, to create ‘off-the-shelf’ banks of ALL-killing immune cells.

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How CAR-T therapy works Immune cells Cancer cells

children at around 18 months of age. Around half the children affected by neuroblastoma require intensive treatment with chemotherapy, surgery and radiotherapy; and even then, only half of those children survive. CAR-T therapy could offer an effective and potentially kinder alternative to chemotherapy and radiation.

2016 1. Immune cells don’t recognise that cancer cells are harmful.

2. I n CAR-T therapy, immune cells are taken from the patient and engineered to recognise cancer cells.

3. W hen given back to the patient, these engineered cells can then recognise and destroy cancer cells.

The team took T-cells from healthy donors and, using very accurate ‘molecular scissors’, modified them to target ALL and remain ‘hidden’ from the host’s immune system. In a world first in 2015, these cells were successfully used to treat two babies who had relapsed ALL. Since then, the team have been running clinical trials with children and adult ALL patients at multiple sites in Europe and North America.

As the scientific landscape evolves, new therapies often make their way from the laboratory bench to a patient’s bedside, and back to the bench again.

Professor Qasim’s research group are currently busy with a follow-on version of the treatment and developing similar approaches for other types of childhood leukaemia. “Our preparations are already at an advanced stage of development. As with all new clinical trials, our next step will be to seek approval from an ethics committee and government agencies before recruiting patients,” explains Professor Qasim.

Next stop: a therapy for solid cancerous tumours Building on the success of CAR-T therapies for blood cancers, Dr Karin Straathof, Professor John Anderson and their teams are now developing innovative CAR-T cell therapies for children with solid cancerous tumours.

Supported by funding from GOSH Charity, they have developed a new CAR-T treatment for neuroblastoma, a cancer of the nervous system that typically affects 10 PIONEER

A testing phase clinical trial of CAR-T therapy for neuroblastoma started at GOSH. Dr Straathof and her team have identified a marker (known as GD2) found on the surface of neuroblastoma cells. Her team’s CAR-T therapy is based on arming T-cells with the ability to recognise GD2 cells and kill neuroblastoma. Encouragingly, a study at GOSH has gathered some promising clinical results when using higher doses of CAR-T therapy to treat children with this cancer.

“Higher doses of CAR-T cells may be necessary to treat neuroblastoma because tumour cells are less accessible to circulating immune cells,” explains Dr Straathof. “The tissue surrounding solid tumours contains cells that shield cancers from immune cells.

Our neuroblastoma trial is examining how well CAR-T cells multiply and how they are affected by these cancer defences, as this will help to inform the design of the next generation of CAR-T cell therapies.”

CAR-T cell therapy is not yet possible for some brain cancers because of a lack of identifiable and specific cancer cell markers. Hoping to overcome this, Dr Straathof is focusing on an aggressive brain tumour called diffuse intrinsic pontine glioma (DIPG). “In this project funded by GOSH Charity, we’re comparing how genes behave in tumour biopsy samples, and how they behave in normal tissue samples from children at similar developmental stages. We hope to identify genes that behave differently in cancer cells, which we could then investigate further to find markers unique to DIPG, that could then be targeted by CAR-T cells.”

Final stop: personalised treatment For now, CAR-T therapy is used when other treatments have failed. But its continuing success and proven safety could mean it is introduced into a child’s treatment plan at an earlier stage.

Professor Persis Amrolia, Consultant in Bone Marrow Transplant at GOSH, says: “We’re continuing to work on improving CAR-T cell therapy. We believe that personalised cell therapy treatments, which allow us to tailor treatments to individual patients, can offer a real chance of success for children who have run out of options.”

YUVAN’S STORY Cricket fan and Lego enthusiast Yuvan was diagnosed with leukaemia in 2014 when he was six years old.

His parents Sapna and Vinay say: “When Yuvan was diagnosed it was the most heart-breaking news we had ever received. We tried to stay hopeful as they say leukaemia in children has 90% cure rate, but sadly, his illness relapsed.”

ALL affects around 600 people per year, most of whom are children. Although treatments have improved steadily, approximately 10% of patients still relapse. Unfortunately, the standard treatments were not successful in treating Yuvan, so last year he underwent a bone marrow transplant. But, in October, he relapsed again.

A new treatment for ALL In November, GOSH, along with two other UK hospitals, announced it would be one of the first hospitals to offer a treatment called Kymriah to NHS patients. Kymriah is a type of CAR-T therapy which modifies a patient’s immune system cells, to attack cancer cells. This treatment has been tested in clinical trials in the US where it has been shown that approximately 50–62% of patients survive without leukaemia for 12 months or more.

Doctors at GOSH started treating Yuvan and collecting T-cells, from his blood. After undergoing a complex laboratory procedure that enabled the T-cells to recognise and kill cancer cells, the T-cells were returned to Yuvan in January this year.

Dr Sara Ghorashian, Consultant in Paediatric Haematology at GOSH and Yuvan’s doctor says: “We are so pleased to be able to offer patients like Yuvan another chance to be cured. While it will be some time before the outcome of this powerful new therapy is known, the treatment has shown very promising results in clinical trials and we are hopeful that it will help”.

His parents Sapna and Vinay say: “This new therapy is our last hope. We are so glad that we at least have this new option. If he had relapsed a year ago it would have been a different story.”

While it will be some time before the results of his treatment are known, Yuvan has now finished the treatment and is back at home with his family. He finished building his Bugatti and has already started his next Lego project.

“This new therapy is our last hope.

We are so glad that we at least have this new option. If he had relapsed a year ago it would have been a different story.”

Yuvan’s parents Sapna and Vinay

Yuvan spent a lot of his time in hospital playing with Lego and drawing portraits of his nurses and doctors.

He said: “I really hope I get better soon so I can visit Lego House in Denmark. I love Lego and am building a big model Bugatti while I’m in hospital.”

Yuvan is eager to get back to school and see his friends, but he’s still very vulnerable to infection. Sapna and Vinay are incredibly happy to have their boy home and are spending as much time as they can together as a family.

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Freddie’s transformational treatment As a baby, Freddie suffered with swollen joints and struggled to open his eyes. Pioneer speaks to some of the people who supported him during his time at GOSH.

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ANGELA FREDDIE’S MUM “Freddie has a form of CAPS, which are cryopyrinassociated periodic syndromes. They are three types of an autoinflammatory disease (a disease where your immune system attacks your own body) that are grouped together because they are all caused by a defect in the same gene.

The three types vary in how severe they are and which organs they affect, but essentially, they all cause inflammation.

Doctors don’t know where Freddie’s CAPS has come from. They don’t think he inherited it from me or his dad. Because it’s such a rare disease, they wanted to do some more research. They asked us if he would be part of the 100,000 Genomes Project and if they could take DNA from me and my husband. They wanted to compare our DNA with Freddie’s to see exactly which section of DNA the CAPS mutation sits on.

Freddie has had CAPS since he was a baby, but at first, we didn’t know what it was. When he was 11 months old, he had trouble opening his eyes, and all his joints were swollen. He had lots of tests at our local hospital in Basildon, but they didn’t know what was going on. It was really scary because none of the doctors knew exactly what it was, so they were all hypothesising and some of the outcomes they were saying weren’t very good. He was poorly a lot and we were regularly in and out of hospital and A&E. Freddie was in a lot of pain, so they referred us to GOSH.

We had to fill up a little tub with saliva and post it to the hospital. They also took a blood sample from Freddie, but he has a sample taken every eight weeks anyway, so it wasn’t anything major.

He got a diagnosis when he was about five, and since then he has been treated at GOSH. Freddie was referred to Professor Paul Brogan who knew almost straight away that Freddie had CAPS and put him on treatment within weeks of seeing him. The swelling in his joints is arthritis, and if the swelling is left untreated it can damage his organs, so it can be quite dangerous.

Obviously, we thought the project would be an amazing thing to do to help people in the future.

Freddie has the right treatment and we know he’s okay now, but it was horrendous those years when we didn’t know what was wrong. If the research could help somebody else avoid going through all that, and if it could mean that CAPS could be diagnosed and treated from a young age, that would be amazing.“

He has injections of a drug called Canakinumab, every eight weeks. It’s quite a new treatment that has only been licensed for children for a few years.

GOSH did the clinical trial for it. As long as he has Canakinumab, any symptoms are more or less under control and he is a healthy 11-year-old boy doing what he wants and playing football.

“Normally when we go to the hospital, they do my height and weight, and then we go straight to the ward for my blood test and injection.

It’s really quick!”

Freddie

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“The package of care, clinical research, and access to drugs is something he won’t get access to anywhere else.”

Dr Eleftheriou

“We provided him with a home exercise programme to strengthen his hand muscles and upper limbs.” Sarah Francis

SARAH FRANCIS OCCUPATIONAL THERAPIST I’m an occupational therapist working in the Rheumatology team. I see patients who have specific problems with their hands.

Problems include stiffness and a reduced range of movement, weakness, and those who have difficulties with functional tasks such as washing or dressing. I also see children who have difficulties at school with tasks such as writing, and that’s why I saw Freddie.

Freddie was referred to occupational therapy due to difficulties with his handwriting and was seen in our outpatient clinic. His hands were quite weak and he had difficulty with fine motor activities such as using cutlery and tying laces. We provided him with a home exercise programme to strengthen his hand muscles and upper limbs. We also gave him advice with his writing and ways to improve his fine motor activities.

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In occupational therapy, we promote independence and we problem solve. Our advice and strategies help to promote self-management of a child’s condition. Freddie has worked hard at following our advice and completing his home exercise programme.

He can now use his hands much better and does well with writing tasks at school.

PROFESSOR PAUL BROGAN RHEUMATOLOGY CONSULTANT AND RESEARCHER Freddie used to come to my clinic all the time. I helped to explain his diagnosis to his family and to introduce a new treatment.

When we take patients’ blood, the value should be less than 10. A high value is very bad and means the patient has very bad inflammation. Before Freddie started his treatment, his reading was 345. Then within a few weeks

of receiving the new treatment, his reading was down to normal levels.

What that means for him is that, in the past, he was at risk of a complication called amyloidosis, which can cause kidney failure and a need for dialysis. There are many young adults who are on their second, third and even fourth kidney transplant because of years of untreated inflammation.

Thankfully, we diagnosed Freddie early on and he is receiving effective treatment.

DR DESPINA ELEFTHERIOU RHEUMATOLOGY CONSULTANT AND RESEARCHER I run a regular clinic that’s for patients who have CAPS. They receive a treatment called Canakinumab and get access to clinical research and genetics studies.

I’ve been looking after Freddie for the last three years and he has done very well on the treatment.

Before, he was having a lot of time

SUMMER PIONEER APPEAL Every year, thousands of children come to GOSH with rare and complex life-limiting or life-threatening conditions.

All too often, a visit to the hospital is their last hope. That’s why we urgently need your help to raise £250,000 towards research that will discover the causes behind complex diseases — and ultimately find ways to treat or cure children like Freddie.

You can support this appeal by completing the enclosed donation form or by visiting gosh.org/pioneer.

Thank you.

off school. He kept having fevers, skin rashes and lots of hospital visits because his parents didn’t know exactly what was happening. Since he has been on this treatment, his blood tests have normalised, and he has less trips to hospital. His symptoms, wellbeing and even his demeanour have completely changed. He used to come to GOSH complaining, not really talking and making no eye contact. Now he is totally different.

GOSH is the only paediatric nationally commissioned service to look after these patients and provide access to treatment. We’re offering a multidisciplinary approach, so Freddie has been working with our clinical nurse specialist and seeing our physiotherapist and occupational therapist because he’s had some muscular skeletal symptoms that he needed help with.

I think overall the package of care, the clinical research, and access to drugs is hugely beneficial and something that he wouldn’t get access to anywhere else.

100,000 GENOMES PROJECT The 100,000 Genomes Project is a UK Government Project establishing the use of ‘whole genome sequencing’ in the NHS. Whole genome sequencing is a new technology allowing scientists to read all three billion letters of a person’s DNA. DNA is like our personal instruction manual, controlling how our body works. Our complete set of DNA is called our ‘genome sequence’. Sometimes, changes in our DNA can cause health problems.

The aim of the project was to identify the genetic causes of rare diseases and the best treatment or therapies for patients with cancer. Those who took part in the project enabled researchers to better understand, diagnose and treat certain conditions.

Many patients have now also been offered a diagnosis when there wasn’t one before.

NHS patients with a rare disease, their families, and patients with cancer all participated in the project.

GOSH played a major role, by providing samples from over 5,500 patients and their relatives.

Following the success of the 100,000 Genomes Project, GOSH will play a leading role in the London North Genomic Laboratory Hub, one of seven national hubs designed to deliver genetic and genomic testing throughout the UK.

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Designing a

The Italian Hospital The building housing the new centre was originally called The Italian Hospital, because an Italian businessman called Ortelli founded it in the 19th century to provide medical care for Italians in London.

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centre

for sight and sound We all sense the world around us differently.

But for children with conditions that affect their ability to see and hear, the world can be quite overwhelming. These patients represent the largest outpatient group at GOSH, with more than 8,000 children seen each year.

Set to open in 2020, the new GOSH Sight and Sound Centre, supported by Premier Inn, will be specially designed with these children in mind. And it will be the first dedicated medical facility for children with sight and hearing loss in the UK. The centre will house specialist outpatient facilities for the Audiology, Cochlear Implant and Ophthalmology teams, as well as related specialties that could include Ear Nose and Throat, and

Speech and Language Therapy. It will include state-of-the-art soundproofed booths for sensitive hearing tests, an eye imaging suite, a dispensing opticians that crafts bespoke glasses for children, and other testing facilities. The aim of the building is to improve the experience of children and families by bringing clinicians together in one place and creating an environment tailor made to these children’s needs.

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Sophia’s story Feeling at home Making sure children and families feel comfortable in the building was of top priority, so they were heavily involved in the building’s design. Children attended a series of workshops to help the project team create a welcoming and fully accessible environment that is easy to navigate.

GOSH Deputy Director of Development Stephanie Williamson recalls: “At that very first workshop, we showed the patients a picture of the building and they said it looked like a grand house on the square.

They said, ‘We’re not ill, we just need some help, and at the moment we have to come to a hospital full of children who are really unwell. It would be great if we were coming to a big house and it was homely.’

Crispin Walkling-Lea, GOSH Head of Healthcare Planning, says: “The waiting area will be furnished like a living room and we’re reinstating a fireplace, which is unheard of in healthcare projects.

As it’s more domestic in nature, it will be less intimidating for our children and young people.”

This domestic narrative has been carefully incorporated into the centre’s design with the help of architects Sonnemann Toon, who have a track record in converting listed buildings into unique clinical spaces.

Architect Laura Massey says: “We had a unique opportunity to take the outpatient service away from the main hospital and design a healthcare building with a difference. Hospitals have a certain format, noise and smell, and for people who visit them on a regular basis, they can start to build up an unwelcome association. We wanted to ‘de-medicalise’ the environment .”

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Sophia was referred to GOSH for treatment four years ago. When the opportunity arose to be involved in the building design of the Sight and Sound Centre, Sophia and her family leapt at the opportunity.

Mum Kirstie says: “We thought it would be nice to give something back, so we went to a workshop in the Lagoon and were asked to look at things like colours, textures, carpets and plants. It shows how child-focused GOSH is – that they’re getting opinions from the kids.”

“I wanted to do something for GOSH because they did something for me. They kept me alive. It felt so good doing something for the hospital – I loved it.” Sophia

Children helped to choose design materials

It’s all in the detail As part of the design, the project team was cautious to consider the sensory aspects of the new building.

Features include artworks, and a garden with plants that children can touch and smell.

Crispin tells us more: “We may be commissioning an artist to work on a series of organ pipes to transform the experience of patients using the stairs. As you move up and down the staircase, these organ pipes will gently play a harmonious sound. Visually it would look exciting, and to have the sound as well would be fantastic.”

Architect Gary Toon says: “We discussed how different spaces should smell differently so that children can associate where they are in the building, with a smell. So, there will be diffusers in the waiting areas that smell like clean linen.”

Asking the experts Patient feedback has been crucial throughout the design process and at times it has even caused the project team to scrap an idea and start again.

Stephanie Williamson explains: “The original vision was for the entrance of the building to have a highly patterned floor because that’s what Victorian grand houses had, but we learnt from the patients that pattern is problematic if you have certain types of sight loss. So, we’ve been working with the architects and patient groups to work out which colours can sit side by side and what size pattern you can have to make it a comfortable environment for our young people.”

As well as emphasising and creating visuals and sounds, the team also needed to consider diminishing them. “We’re trying to minimise downlighting and glare from lighting,” explains Crispin. “And we’re also thinking about acoustics throughout the building. Clinical environments have a lot of hard surfaces as they’re easier to clean. But hard surfaces create difficult acoustic conditions for people with hearing impairments as the noise bounces off them. We’re trying to avoid that.”

The more the team worked alongside the patients, the more they realised how important their choices were. Everything from the colours of the walls, to the positioning of signs was deliberated. “Colours are being used to identify each floor. We did a lot of work on this in our workshops because it was quite complicated,” Stephanie says. “We wanted to make sure the children liked the colours, but also that there was enough contrast between them. There are children who don’t see colour and we had to think about what their experience of the building would be like.”

A noticeable feature of the building is that there will be much less signage, because multiple signs can become confusing, rather than helpful, for children and young people. Architect Laura says: “instead of having small signs at high levels, we’re putting room numbers on the door kick plates, and using big blocks of text with contrasting colours – it’s much more child friendly.”

Peek by Isobel Manning. A design that will appear on hoardings around the centre’s construction site, created in collaboration with families from the Queen Square neighbourhood and GOSH patients.

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A space for nature The child-centred design is also prevalent in the outdoor areas. Outside, a large garden will include plants chosen specially for children and their families to see, smell, touch and perhaps even hear. It will also feature quiet green spaces and places to engage with nature, including bird feeding stations and insect houses.

Mike Luszczak, Landscape Architect with ME Landscape Studio, says: “We came along to a workshop day with samples and the children had great fun playing with the plants and looking at the leaves. That was a really useful session because there was some good feedback in terms of what they liked and didn’t like, so we were able to tailor the planting accordingly. It made us think of how we could use plants with a range of textures and smells. Things like the sound of plants moving in a breeze or the smell of lavender can really enhance the experience for them.”

Paris’ experience “When I go to the hospital, I find it hard to understand what people are saying because it’s usually really loud.

It can make me feel a bit annoyed or upset. But I try to find my way around it. Having my family and friends with me really helps.”

“My favourite sound is probably the birds in the morning. So, I’m really looking forward to seeing the garden!”

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The new Sight and Sound Centre will change the conversation about what healthcare environments could look and feel like for children.

Changing the look and feel of healthcare The team hope that the new Sight and Sound Centre will change the conversation about what healthcare environments could look and feel like for children and their families.

Stephanie says: “Just the experience of coming to their appointments is going to be so much better. They’re going to be waiting in a nicer space, they’re going to be seen in a much better room, and the clinicians are going to have what they need on hand to be able to effectively treat and diagnose – I think it’s going to have a big impact on everyone.”

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INTERVIEW

PIONEER INTERVIEW GOSH’s new CEO Mat Shaw discusses his background, hopes for the hospital, and his daughter’s experience at GOSH. What made you choose GOSH as a place to work?

What better place could I work than Great Ormond Street Hospital? It has an excellent reputation for research and offers some great opportunities.

What were your first impressions?

I met a lot of smart people who were massively motivated. It’s an organisation that wants to do the best for children, to seek new treatments and provide the best care possible. I think GOSH has a strong reputation, and scale and breadth of services that most other hospitals don’t have. The amount of innovation here is higher than in any other hospital in the UK and that is exemplified by the number of research papers we produce.

How do you hope to improve the environment for staff?

I think GOSH does great things for children, and we need to focus on creating a more relaxing and supportive environment for staff too. Having supportive colleagues and management helps decrease stress levels because people feel reassured that they will receive help when they need it. You should be able to enjoy your work, to know you’ve done something good, and feel fulfilled and supported. I’ll be embracing technology like the electronic patient records as I’m confident that it will make life easier for staff, that it will create less admin and give them more time to focus on care.

Tell us about your personal experience at GOSH. When my daughter was younger, she was playing with some Lego and said her hand felt funny. I thought Tell us about your medical background she’d been lying on her hand. We started to walk to the I’m a spinal surgeon by background and mainly operate cinema and I noticed her face had drooped on one side on children. My specialism is fixing scoliosis, which is when — it looked like she was having a stroke. We came to children have curved spines. Their bones either bend GOSH and the treatment she got was forward or to the side. Over time those amazing. She had a very unusual type bends worsen and the child becomes ”What better of migraine, which caused her to have imbalanced and in a lot of pain. I stop a speech deficit and muscle weakness. those curves from getting worse. The place could I She’s had a few speech issues since commonest type of scoliosis is teenage work than Great but thankfully hasn’t had that level of scoliosis, where young people between weakness again. She’s 12 now and things the ages of 10 and 15 get a gradually Ormond Street are fine, but it was a very worrying time. progressive curvature of the spine, Hospital? It has Going through that experience helps which worsens when they have growth me to empathise with the families who spurts. In severe cases it can affect lung an excellent come to the hospital. function. The operation involves putting reputation for screws around the spinal cord and into How have you been involved with the the bone. You begin with a bent spine research and so far? at the start of the operation and have a offers some great charity I meet people from the charity several straight one at the end. times a week. Currently we’re talking opportunities.” about the exciting projects coming up What inspired you to become CEO? in the next few years and how we can work much closer I have a real passion for health and equality. In England, together. I also took part in Prudential RideLondon children tend not to receive as good treatment as for GOSH Charity last year and I’m doing it again this adults. For example, some hospitals only have a couple year with the new charity Chief Executive, Louise. It’s a of anaesthetists that can put children to sleep, so statement of intent about how I support the charity children wait days for treatment, whereas adults get it and understand the interlinkage between the hospital immediately. That’s something I want to help change. I and charity. I really value everyone who fundraises also have a lot of management experience to bring to and donates to GOSH Charity. There is an inevitable the role. I was a Medical Director and then Deputy Chief symbiosis between the charity and the hospital. Without Executive at the Royal National Orthopaedic Hospital, the charity, we wouldn’t have many of the amazing and then I moved to BUPA as a Medical Director. facilities and staff at GOSH. That includes new scanners, buildings, lab equipment, and even play therapists and What challenges do you foresee for GOSH? the bereavement staff. The NHS doesn’t pay for that There are two big challenges in my mind, the first one level of service. We are amazingly fortunate to have is around financial sustainability. Next year is going to charitable support. We are absolutely dependent on the be a tough year, and to run a world-class hospital, we’re charity to help us year on year, and they do. very much dependant on the incredible support of the charity and people’s donations. The second challenge is culture — GOSH can be a tense place to work. Working Left: Mat Shaw and his with seriously ill children is incredibly difficult and we children after RideLondon need to find a way to make it a less stressful environment.

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The importance of

PLAY

While play is synonymous with children, it’s not always seen as a priority in their lives. So, when children go to hospital, we expect them to be given medicine, but we don’t necessarily expect them to be given time to play. The more we learn about how play can help children to heal and cope with stressful situations, the more it is becoming an essential part of treatment at GOSH.

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Play at GOSH The origins of play in healthcare The effects of stress on children’s mental health and wellbeing was brought to the public’s attention during the Second World War, when children were evacuated.

Laura Walsh, Head of Play at GOSH, elaborates: “People soon became aware of the negative impact that stress and separation was having on children.

There was a general understanding that a child separated from their normal life became depressed.”

Similarly, being in hospital can also be stressful and disrupts children’s daily lives. That’s why, in the early 70s, GOSH hired two nursery nurses. Their role was to support children through their hospital experiences, and Laura says: “The profession of play specialists was developed from those nursery nurses.” Today, GOSH Charity funds a team of more than 40 play workers and play specialists to work with children and young people.

The power of play At GOSH, play is used to alleviate stress, to distract children and young people from difficult situations, and to help them understand what is happening.

Laura says: ”Children and young people use play to communicate. So, once a procedure is coming to an end, a play specialist uses play to give the child an opportunity to express how they feel, so those feelings aren’t left unexamined and left to fester.” It’s vital that we help children understand what is happening to them, and that children are given the chance to express how they are feeling.

Without the outlet provided by play, a hospital experience can easily become more stressful and traumatic for children and young people. Play can help prevent this. Laura warns that “medical

trauma can build up over time and take a child and their family by surprise when it seems like they are coping. And the more trauma a child has when they are young, the more likely they are to experience poor mental health as they grow up”.

There continues to be a wealth of research conducted into play and its impact on children’s health. Laura says “one of the most compelling areas of evidence at the moment is psychoneuroimmunology which shows us that stress, or the lack of stress, has an enormous impact on the body’s ability to heal. There are some very famous studies that indicate that stress has a hugely detrimental impact on clinical recovery. One study used a control group of students, some who were studying for exams and some who were on their break. They put a little cut on the inside of their mouths and measured how long it took to heal. It healed significantly faster for those on holiday. These studies imply that our ability to heal is better when there is a reduced amount of stress.”

Today GOSH Charity funds a team of

The Therapy Dog programme has

play workers and play specialists to help children and young people

dogs and volunteers who visit patients, families and staff

40 25

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How do we play at GOSH? Play features heavily across the hospital and comes in various forms. Play workers and play specialists build relationships with young people and use books, crafts and technology to engage them either by the bedside or in dedicated play rooms where children can play together. But it’s not as simple as you may initially assume. Laura says: “When play specialists distract a child when procedures are taking place, that’s a very nuanced piece of work. They quickly assess the child’s coping strategies, relationships, likes and dislikes. Each child is different, so play is tailored to their individual preferences and needs. For example, when dealing with very young children or children who have a developmental delay, it’s a good idea to go with something simple but immersive.

“In preparation for going to theatre, we often do a preoperative visit to get the child comfortable with what is going to happen. We play with some of the equipment, so they aren’t too scared of it being used on them. If a child needs a general anaesthetic, they may have a mask over their face. So, one of the games we might play is a bubble blowing competition using the masks.

We aim to normalise the equipment and help children to associate it with a fun activity.”

“Play is a child’s way of being in the world, it’s the way that children and young people communicate with the world.”

Laura Walsh

Tips from expert Laura Walsh

Show children that play is possible.

That can be as simple as getting down on the child’s level or doing something silly. Both those things tip the power balance. As soon as a child walks into a hospital or anywhere that is an adult dominated environment, they can feel like they are low power, low status and that the adults are in charge. We can give little signs to show the child that this isn’t such a serious, scary environment.

Ask children what they are interested in.

We must acknowledge that we are all different, and that even at a young age we have different interests and preferences. Some children are shy and appreciate being given the opportunity to check things out before they join in. Other children are outgoing and are happy to jump into any game.

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“Play is absolutely vital for positive mental health.”

Laura Walsh

Therapy pets Another way that play is evident in the hospital is as part of GOSH’s Therapy Dog programme. It consists of 25 dogs and volunteers who visit patients, families and staff with the aim of reducing stress levels and bolstering well-being.

Jamie Wilcox is head of Volunteer Services at GOSH, a team funded by GOSH Charity. He tells us more about the Therapy Dog programme: “We have a really diverse group of dogs from tiny fluffy things up to bigger dogs including a lurcher. There are a couple of dogs in every day, including weekends.”

Therapy dogs are becoming popular across the country. Workplaces are embracing dog-friendly environments, and hospitals, hospices and residential homes are engaging in therapy pet programmes.

Jamie says: “Lots of studies have proven that animals help with well-being, mental health and helping people feel calmer. Some dogs work directly with specialities like physio and occupational therapy, working side-byside with medical professionals to help a young person or a child through their recovery.

“If a child has brain damage, they may have to relearn how to do very simple things like pick up a cup. It’s really boring for little kids to do stuff like that, but if they have a dog sitting next to them, they will happily pick up a hairbrush and learn how to brush the dog.

PHOTO CREDIT: Terence Webb

“We have children who need to exercise regularly to assist with their recovery, this includes walking and balancing exercises. Walking around the ward can be boring for a five-year-old, but if there is a dog to walk around the ward, it’s not them doing the walking, it’s the dog. They are quite happy to do their duty and it’s so inspiring watching the kids get involved without realising they are having their physio while they are doing it.

“We’re starting to engage the dogs in a much more positive, planned way, which isn’t just about nurturing and relaxation. Some of our dogs are really important in areas where kids have high levels of pain or anxiety and are unable to sleep. You may have a dog who just lies on a bed close to the patient and the patient will fall asleep having a nice dog beside them.”

The more we learn about the positive impact play can have, and the more frequently clinicians and researchers observe the way it can help us heal, the more important it is becoming in a healthcare environment. Thanks to our generous supporters, GOSH Charity is able to fund the hospital’s dedicated play experts, helping GOSH stay at the forefront of this alternative form of therapy.

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WHAT INSPIRES PEOPLE TO GIVE TO GOSH? Some people support GOSH Charity because a child they love has been treated at the hospital or because they are former patients themselves.

Their donations and legacies are a way of saying thank you for the dedication, skill and kindness of everyone who cared for them. But many of our supporters have no personal connection with the hospital. So, what inspires them to care about future generations of young patients at GOSH?

Elaine Bruty with her husband Peter

Keith Timpson

Elaine Bruty from Shropshire has supported the charity for more than 10 years:

Keith Timpson from Northamptonshire began supporting GOSH Charity more than 20 years ago:

“When my son was born 32 years ago, I was overwhelmed at having such a beautiful and healthy child. And to this day I am still so grateful for that. To think of children suffering upsets me and if I can help them, in any way, then I will.

“I first became interested in GOSH many years ago after seeing the BBC Christmas programmes from the hospital. Seeing all the sick children at such a special time of the year prompted me to become a supporter and recently to leave a legacy in my Will to GOSH Charity.

GOSH has such a fantastic reputation for caring for children. For families to know that they have support must be a huge relief to them. The never-ending efforts to find a cure or treatment are amazing.

It is my pleasure to help the charity and children by donating and leaving a gift in my Will. I believe in children having the best and they certainly get that at GOSH!”

“To think of children suffering upsets me and if I can help them, then I will.”

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As I was not given long to live when I was born 72 years ago, I realise that medicine and loving care from parents and nurses is hugely important in the wellbeing of sick children. I was born very ill and weak back in the days before the NHS, but medicine, love and care has gifted me a long life. Having visited the hospital recently for a legacy event, I was impressed with the research being carried out into leukaemia treatments and potential cures. I support the pioneering work to find cures for sick children whose chances of a normal life are greatly diminished.”

“Having visited the hospital for a legacy event, I was impressed with the research being carried out.”

GIFT FOR THE FUTURE EVENTS We’re hosting three informal free events at the hospital to show supporters how a gift in your Will can help save young lives for generations to come.

It’s a rare chance to hear from senior hospital staff. A matron or senior member of the nursing team will tell you about the special levels of care offered at GOSH. A research scientist will offer insights into the techniques used in research you help to fund.

You’ll have a guided tour of non-clinical areas, including a visit to one of the research labs. In our beautiful Victorian Chapel, you’ll hear from one of the Chaplaincy team about how they offer support to help families cope through the toughest times.

Visiting the children in the wards isn’t possible due to patient privacy and infection control, but GOSH families will share their moving stories with you through videos.

You’ll also have the opportunity to use a 3D virtual reality headset to have a 360° view behind the scenes with narration from GOSH staff. The 3D experience features an operating theatre, a ward and a patient room, a scanning suite, a play room and Dr Owen William’s research lab at the UCL Great Ormond Street Institute of Child Health.

Judy Anderson from our Legacy team will be your host at a Gift for the Future event

Tuesday 10 September 2019, 11.30am – 2.30pm Wednesday 9 October 2019, 11.30am – 2.30pm Wednesday 30 October 2019, 11.30am – 2.30pm You are very welcome to bring a guest.

A light sandwich lunch will be served.

To book a place or for information about our free Will-writing service, please call Judy Anderson on 020 3841 3205 or email legacy@gosh.org

Above: As well as the guided tour, you can use a 3D headset to experience behind the scenes at the hospital. Left: Dr Owen Williams is researching treatment of acute myeloid leukaemia (AML).

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Surgery in the womb Specialists at GOSH and University College London Hospital (UCLH) are championing European collaboration that is changing lives. GOSH is at the forefront of pioneering foetal surgery in the UK, a surgery performed on babies with spina bifida while they’re still in the womb.

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The procedure means that both the mother and child have surgery simultaneously and it’s sparking plenty of comment and excitement in the medical world.

Why is it needed?

How it all began

Before we look more closely at how the procedure is performed. Jan Deprest, Professor of Obstetrics and Gynaecology, explains why it is necessary:

Dominic Thompson is a paediatric neurosurgeon and responsible for setting up the foetal neurosurgery service, offered through a special collaboration between UCLH and GOSH. Dominic explains how the service began: “At GOSH and the UCL Great Ormond Street Institute of Child Health we have a unique combination of expertise in caring for children with spina bifida as well as world-leading scientific research into neural tube defects. We also have a close association with the foetal medicine department at UCLH so it made sense to explore the possibility of developing a collaborative foetal surgical service using this expertise. We then had the enormous good fortune that, through our international connections and thanks to funding from GOSH Charity, we were able to bring foetal surgery expert Professor Jan Deprest to GOSH from Leuven, Belgium.

“The main purpose of the surgery is to repair spina bifida before birth. Children with this condition have a gap in their spine. It’s a condition that isn’t lethal but causes severe disabilities. Depending on how high the gap is, the child may find it difficult to walk and may need a wheelchair. Most do not have control of their bladder or bowels. There is also an effect on the brain — a certain degree of pressure may develop, and in 30% of cases this results in a lower intellectual capacity.”

To prevent these disabilities from developing, a 30-strong, multidisciplinary team assist with an operation on the baby before birth. Professor Deprest says: “If you find this problem halfway through pregnancy and you keep scanning the baby, you see that the child’s body progressively loses function. Its limbs are still moving at 20 weeks, but they aren’t at 30 weeks. By operating before birth, we don’t reverse everything back to normal, but we can stop the condition from progressing, and give the child a chance of a much better future.”

“Back in 2016, my colleagues from Leuven and I travelled to Sao Paulo in Brazil, where foetal surgery teams had already performed many surgeries for children with spina bifida. While in Brazil we saw the technique performed in different ways and it opened my eyes to what might be possible in London. During a subsequent series of meetings between GOSH and the UCLH foetal medicine team, Professor Deprest was able to offer his considerable experience to guide us in setting up the UK’s first open foetal surgery team.

“The main purpose of the surgery is to repair spina bifida before birth. Children with this condition have a gap in their spine. It’s a condition that isn’t lethal but causes severe disabilities.”

Professor Jan Deprest

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“By last year, with the generous teaching, patience and support of the Leuven team, I had been able to learn the technique of foetal repair of spina bifida and had performed nine foetal surgeries in Belgium.

“Finally, in May 2019 we performed our first case in London. The operation took place at UCLH. The surgery was a combined effort of teams from UCLH, University Hospitals Leuven and GOSH. The GOSH team consisted of me, Neurosurgeon Zubair Tahir, and National Institute for Health Research Professor Paolo De Coppi who also trained in Leuven.

“Mums whose babies are diagnosed with spina bifida can now be referred here to see whether or not they are eligible for surgery.”

The procedure “There are different levels of success. Obviously at the end of the surgery we can tell whether we have successfully released the spinal cord and repaired the defect in the baby’s spine.”

Dominic Thompson

On average, the entire anaesthesia time may take up to three hours, and the majority of that time is dedicated to preparing the mum. The spina bifida surgery part lasts just one hour but requires many hands. Professor Deprest says: “It’s really intense and quite crowded, but nobody is redundant. We have at least eight or 10 people involved and have a written-out scenario – it’s like a scenario for a film. We rehearse on paper because it never becomes a routine, you don’t do this every week, we’ll be doing this 12 to 14 times a year.”

The team carefully makes an opening in the mum’s abdomen and then in her womb so they can access the unborn child safely. Once they have located the gap in the spine, they close it and close the rest of the openings they made for the surgery to take place. After surgery, the mum is in hospital for a few days before going home and later delivering the baby by caesarean section.

Dominic Thompson says: “There are different levels of success. Obviously at the end of the surgery we can tell whether we have successfully released the spinal cord and repaired the defect in the baby’s spine. However, it is not until the baby is born that we can assess how well the defect has been repaired and how effective we have been in reversing some of the brain changes that are known to occur in spina bifida. Children then need to be regularly assessed as they grow up in order to monitor their development and know just how much better they are compared with children who were treated after birth.”

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Belgium London In 2016, the team travelled to Sao Paulo in Brazil, where foetal surgery teams had already performed many surgeries for children with spina bifida.

Without effective and continuous collaboration between Belgium and the UK, this pioneering surgery would not have been possible.

Sao Paulo

European collaboration Without effective and continuous collaboration between Belgium and the UK, this pioneering surgery would not have been possible in this country. Shared learnings and experiences have brought this service to GOSH and provided new hope for babies with spina bifida. Dominic Thompson says: “The team in Belgium were brilliant and immensely supportive.

They opened their arms, incorporated me into the team and guided me through my first cases.

“It’s essential that we continue to collaborate.

We need to share what’s going well, but also, we need to know what can be improved.”

Thanks to the UK team’s strong relationship with the Belgian team, this service looks set to keep improving and benefitting families across Europe.

Professor Deprest says: “Belgium needs the UK and the UK needs Belgium, for progress in science. And the story hasn’t finished, the whole world is trying to make this surgery minimally invasive. GOSH is well known for successfully operating on very small babies with keyhole surgery, so we’re hoping to convert this surgery into keyhole surgery. That means instead of open surgery, we will use small instruments manipulated through very small openings in the skin.”

“It’s essential that we continue to collaborate. We need to share what’s going well, but also, we need to know what can be improved.”

Professor Jan Deprest

The charity made it possible NHS England have recently decided to commission foetal surgery for spina bifida as an NHS service, but Dominic explains that this wouldn’t have been possible without the charity’s support: “GOSH Charity has funded our first 10 cases, which has allowed us to show that carrying out this amazing procedure in the UK is possible. That was absolutelly vital in preparing the NHS to take on foetal surgery as a national service.”

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PARENT’S PERSPECTIVE

BY GEORGINA, MATILDA’S MUM When Matilda was six, I noticed she kept falling over when she was laughing. Although she didn’t hurt herself at the beginning, the falls became more dramatic and after a while Matilda started to hurt herself. She would fall like a puppet whose strings had been cut and would slump to the floor without putting her arms out to break her fall. It tended to happen when she was in a state of heightened emotion, particularly when she was laughing. I soon realised there was no way Matilda would be doing this on purpose, so when she fell over particularly heavily one day, I decided to speak to our GP. We were quickly seen at Southampton General Hospital where a neurologist suspected a severe life-limiting metabolic disorder called Niemann-Pick disease type C (N-PC). It’s a rare childhood disease that affects less than 100 people in the UK. It causes fats to build up, affecting the brain and other organs, and it causes dementia – a decline in memory and thinking skills. The neurologist said it was highly unlikely to be N-PC because it’s extremely rare, but I looked up the symptoms and saw that N-PC was a possibility.

She was diagnosed with N-PC at our local hospital and they soon transferred us to GOSH under the care of Dr Paul Gissen, who specialises in paediatric metabolic diseases – conditions that affect the way cells in the body function.

He spoke to us early on about a research trial that could help to slow the development of the disease. My husband and I knew we had to put Matilda on this to give her the best chance of a normal life for as long as possible.

Matilda is such an eloquent child, with incredible language and communication skills. She’s a vibrant little girl who loves going 34 PIONEER

to school and seeing her friends.

However, she has found it hard to keep up with her friends in other areas of learning. In maths and science she struggles with memorizing and processing information, and gets really distracted. Sitting down to do a task is also difficult for her. One of the hardest parts of the disorder is the mood swings. She can get angry quite suddenly and will often cry and have outbursts at school.

She’s up and down, very joyous and happy, then suddenly she’s sad. This is difficult for her friends and other children to understand, and it’s difficult for some adults to grasp too.

The nurses and doctors at GOSH are amazing. They do everything they can to make it an easier experience for Matilda. They’re kind and understanding, and they truly listen to her. It’s so important for her well-being that she feels listened to. They adapt the procedure to help her feel more comfortable, they alleviate her fears and always answer her questions. Matilda’s visits to the clinical research facility at GOSH are frequently filled with laughter, dance, and a lot of talk about baking. I couldn’t wish for a better hospital experience.

It’s intense coming to London every two weeks for the trial and it took Matilda a very long time to get used to her new routine. But without research and the trial she’s on at the moment, we wouldn’t have the potential of slowing down the progression of the disease.

We appreciate how lucky we are to have this option and we hope that, the more research there is into N-PC, the more effective the treatments of the future will be.

Because, while the research trial that Matilda is on might slow the progression of the disease, it won’t cure it.

Research is our only hope to find more effective treatments treatments for N-PC. Through research, we have the chance to find a cure for Matilda, her friends with NP-C, and future families who receive this diagnosis.

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Great Ormond Street Hospital Children’s Charity 40 Bernard Street London WC1N 1LE 020 3841 3131 gosh.org 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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