Pioneer

SUMMER 2018 Great Ormond Street Hospital Children’s Charity

BREAKING FREE FROM THE MOULD

Custom-made devices are giving young patients, like Thomas, a new sense of freedom.

YOUR OPINION COUNTS Are we doing our best for you?

Take our Supporter Satisfaction Survey and let us know.

ALL EYES ON CELL THERAPY Professor Jane Sowden explains how cell therapy could restore a child’s sight.

SUMMER PIONEER APPEAL As you probably know, many of the thousands of children who come to GOSH each year have 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 £300,000 towards research that will discover the causes behind complex diseases – and ultimately find ways to treat or cure them.

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

We have also included a Supporter Satisfaction Survey. We’re always looking for ways to improve the way we communicate with you so please take a minute to fill out our supporter satisfaction survey and return it in the Freepost envelope enclosed.

Thank you.

WELCOME We’ve had an exciting few months here at Great Ormond Street Hospital Children’s Charity (GOSH Charity). With the help of Her Royal Highness The Duchess of Cambridge, we’ve opened the Mittal Children’s Medical Centre, home to the new Premier Inn Clinical Building, allowing the hospital to offer new, spacious wards and state-of-the-art operating theatres. You can see some photos from the royal opening on pages 7–9.

In this edition of Pioneer, you’ll also find out about Professor Jane Sowden’s potentially life-changing research into eye development and repair (pages 25–27).

For the past 20 years she has been identifying which genes are responsible for childhood retinal diseases and she hopes her findings could help to restore children’s vision.

You’ll go behind the scenes to meet Chief Pharmacist Judith Cope and find out some surprising facts about the Pharmacy team (pages 29–31). The Orthotics team explains how they’re custom-building equipment that is unique to our young patients – helping them to regain their movement and freedom. And you’ll be inspired by 14-year-old Issy, who has a disease that affects both her breathing and digestion, but never lets it stop her from living life to the fullest (pages 10–12).

There are so many children and staff at Great Ormond Street Hospital (GOSH) with their own fascinating and often moving experiences to share. And every day, hundreds more children arrive at the hospital – incredible children who are living with some of the rarest and most complex conditions. Every day we hear updates about the phenomenal research that’s taking place at the hospital, and the researchers looking for better treatments and cures.

I hope that this edition of Pioneer not only inspires you, but also shows you how, together, we’re helping to transform the lives of seriously ill children.

Thank you for your support.

“ There are so many children and staff at Great Ormond Street Hospital with their own fascinating and often moving experiences to share.

And every day, hundreds more children arrive at the hospital – incredible children who are living with some of the rarest and most complex conditions.”

Tim Johnson Chief Executive Great Ormond Street Hospital Children’s Charity

On the front cover: Thomas' splints, casts and frames were designed and constructed in the Orthotics department at Great Ormond Street Hospital.

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CONTENTS 05 AROUND THE HOSPITAL The latest news from GOSH.

07 THE ROYAL OPENING Her Royal Highness The Duchess of Cambridge

visits patients at the opening of the Mittal Children’s Medical Centre, home to the new Premier Inn Clinical Building.

10 I HAVE… CYSTIC FIBROSIS Fourteen-year-old Issy tells Pioneer how Irish

dancing helps to manage her condition.

13 CHILDHOOD ARTHRITIS:

A JOINT PROJECT Professor Lucy Wedderburn’s study gathers data

10

and samples from teams across the world, to predict how children will respond to medication for arthritis.

17 WHY I SUPPORT THE CHARITY:

GILL MELEADY Gill and husband John both wanted to give something back to GOSH by leaving a legacy gift in their Wills after Gill was treated for Hirschsprung’s disease, a rare bowel disorder in the 50’s and 60’s.

18 OUT OF THE BUBBLE Henry was given a 10% chance of survival until

he had a bone marrow transplant from his older brother. Pioneer meets the team that supported him through his journey.

21 BREAKING FREE FROM THE MOULD Pioneer explores how custom-made devices are

giving young patients more freedom to live their lives.

25

13

ALL EYES ON CELL THERAPY rofessor Jane Sowden explains the importance P of monitoring genes and how cell therapy could restore a child’s sight.

29 LIFTING THE LID ON THE

PHARMACY TEAM Pioneer meets the team tailoring medicine for children, working with robots and responsible for dispensing drugs.

32 THE PIONEER INTERVIEW Award-winning Dr Karin Straathof discusses

developing a new treatment for children with a rare form of brain tumour.

34 A PARENT’S PERSPECTIVE Sarah spent the first few weeks of her daughter’s

life unsure if she was going to survive – she tells Pioneer about her family’s experience.

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34

AROUND THE HOSPITAL A ROBOT PUPPET VISITED GOSH

A robot puppet visited patients and families at GOSH following a collaboration between GOSH Arts and puppet theatre company Theatre-Rites.

The collaboration supported the development of a project called Animating the Brain. This project aims to engage people with neuroscience and neurology, and to encourage children to learn more about what happens in their brains.

During their two-week project at GOSH, the Theatre-Rites team ran workshops on Koala Ward – the neuroscience ward. They introduced patients and families to their robot puppet LabBoy, and children made their own symbolic brain, with some choosing to look at the parts of their brain that were causing illness. The team’s workshops were made into a film, which you can watch at: https://youtu.be/CmIbiYgYDb8.

SCIENTISTS GROW NEW ORGANS Italian scientist Michele De Luca helped to grow replacement skin for a young boy with epidermolysis bullosa, by modifying some of the boy’s own unaffected skin cells in the lab.

The condition had caused the boy’s skin to blister so severely, that he had lost skin from almost all his body.

Following his success, De Luca is working with scientists at GOSH to create a functioning oesophagus (food pipe) using a similar technique. If successful, this could lead to a new kind of transplant for children whose oesophagus has not formed properly, with no risk of the body rejecting the new organ.

BODYSUIT TO TREAT DUCHENNE A new artificially intelligent bodysuit could help researchers understand how Duchenne muscular dystrophy (DMD) affects mobility.

DMD is a genetic disease, affecting mostly boys, that causes progressive muscle deterioration.

It begins in early childhood and usually results in patients being unable to walk by their teenage years. Sadly, most patients with DMD lose their lives before they reach their thirties.

The bodysuit will be trialed in a collaboration between researchers at GOSH and Imperial College London. The study has been awarded £320,000 from the Duchenne Research Fund. It will develop and test a bodysuit that measures everyday movements in boys with and without DMD, and measures how their body interacts with the world around them.

It will feed data back in real time, allowing the team to monitor patterns in the data and decide whether a new treatment regime is working. From there, doctors will be able to make better informed decisions on treatment.

Screenshot of video produced by Martin Sayers/ Imperial College London.

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AROUND THE HOSPITAL New drug for children with multiple sclerosis.

A daily tablet has been shown to reduce the chance of new symptoms developing in children with multiple sclerosis (MS) by 82%.

MS affects an estimated 10,000 children worldwide. It’s a disorder of the immune system where the layer that surrounds and protects the nerves in the brain and spinal cord is damaged. Children with MS can experience problems with their vision, balance, senses, and movement in their arms and legs.

There are currently no treatments specifically approved for adolescents with MS, and this is the first time a drug for MS has been trialled in this way in young people with the condition.

The trial involved 215 young people from around the world, with GOSH coordinating the UK arm of the study and treating several patients.

PATIENT APP IDENTIFIES SICKEST PATIENTS GOSH Chief Nursing Information Officer and previous Clinical Site Practitioner Sarah Newcombe won an NHS Digital Pioneer Award for Digital Leadership.

Sarah was the clinical lead for the implementation of an app designed to replace the clipboard at the end of patients’ beds. It allows staff to enter patients’ vital signs and it alerts the clinical outreach teams if a patient shows signs of deterioration. The app helps to support the nurses to identify the sickest patients without having to leave the patient bedside, enabling quicker escalation and more efficient working.

CANCER DRUGS REDUCE SEVERE DISFIGUREMENTS

Nikki was diagnosed with AVM when she was six years old.

Scientists have identified drugs which could reduce the disfigurements of children born with arteriovenous malformation (AVM). This is a condition where abnormalities in blood vessels lead to painful disfigurements, life-threatening bleeding and an increased risk of complications like strokes. The drugs that have been identified are normally used to treat cancer, but according to research led

by GOSH and the UCL Great Ormond Street Institute of Child Health, they could also target the underlying cause of AVM. Find out more: bit.ly/2Ie0r4A.

GENERAL DATA PROTECTION REGULATIONS GOSH CHARITY UPDATE

Choice

By now, I’m sure you will have heard of the General Data Protection Regulations (GDPR).

GDPR came into force on 25 May 2018 and replaced our previous data protection laws.

Transparency

Whenever personal information about us is processed, collected, recorded, stored or disposed of it must be done within the terms of GDPR. GDPR requires greater openness and transparency of us, as an organisation that holds your information, and, in turn, gives you rights about how your information is used.

At GOSH Charity, our approach to privacy has always been to put you first.

This is reflected in our Supporter Commitment (gosh.org/supportercommitment) and we believe that the implementation of GDPR represents a significant step in the development of privacy rights, giving you the choice and control you deserve over how our personal information is used. This is why we have sought to embed the concepts of Choice, Control and Transparency across the Charity.

If you would like to find out more about GDPR, see ico.org.uk.

But what’s this got to do with you and GOSH Charity? Well, our relationship with you is very important to us and we’d love to stay in touch with you.

We want you to know about all the great work that GOSH Charity is supporting, the fundraising events that we are planning and the exciting gifts in our online shop. But without your explicit agreement, we can’t send you e-mails or call you.

So, if you haven’t already done so, it’s easy to tell us how you want to hear from us going forward. You can call, write or e-mail at any time. You are very important to us, please stay in touch.

0203 841 3131 · supporter.care@gosh.org · gosh.org/privacy

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Control

THE ROYAL OPENING Earlier this year, Her Royal Highness The Duchess of Cambridge officially opened the Mittal Children’s Medical Centre, home to the new Premier Inn Clinical Building at GOSH. HRH visited young patients, families and hospital staff in the new wards and joined supporters to celebrate the completion of the centre.

The Mittal Children’s Medical Centre now spans two connecting wings, including the newly completed Premier Inn Clinical Building and the Morgan Stanley Clinical Building, which opened in 2012. The new facilities are part of the hospital’s redevelopment programme to replace outdated wards built in the 1930s and to meet growing need for GOSH’s expert care.

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ABOUT THE CENTRE The moment you step through the doors you know you’re in a state-of-the-art medical facility that has been designed around young patients. The private ensuite bedrooms have space for a parent to stay by their child’s bedside and the new wards include playrooms, sensory rooms and spaces for patients and families to relax.

The centre offers 240 beds, six operating theatres, specialised surgical facilities and a family and staff restaurant. The recent completion of the Premier Inn Clinical Building added a major new surgery centre, a respiratory unit and a 16-bed isolation unit for children with infectious diseases, and dermatology, rheumatology and immunology conditions.

The Duchess speaking to children with rare and complex medical conditions, who are taking part in an art activity in one of the new playrooms.

Families and staff moving into the new wards.

The Duchess meeting Rafael, age four, who is waiting for a heart transplant.

Staff in the Nightingale Day Unit, part of the Dorfman Surgery Centre.

“ I’ve been so impressed with everything I’ve seen and the scale of the work that’s going on here. It’s been wonderful to meet so many families and young people and I’ve been so inspired by their bravery and courage at such a difficult time.”

HRH The Duchess of Cambridge

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Nine-year-old GOSH patient Ava presenting HRH The Duchess of Cambridge with gifts for Prince George and Princess Charlotte.

The completion of the Mittal Children’s Medical Centre was only possible because of the thousands of gifts to GOSH Charity.

The impact of such generous gifts will be seen for decades to come as the hospital is able to care for more children and develop new treatments in the much-improved facilities.

“ We’ve followed the progress of the Mittal Children’s Medical Centre closely… and we’re so proud to have been a part of it. My family and I are confident that the patients and families who come here in the future will receive the best possible care, in the best possible space. And there can be no greater reward than that.”

Aditya Mittal

“ The Premier Inn Clinical Building will help the hospital and its dedicated teams of medical and nursing staff to provide the world-class care for which it’s renowned.”

Alison Brittain, Chief Executive Officer of Whitbread Plc

A HOSPITAL FOR THE CHILDREN Each ward is decorated with animal artwork, situated on the floor which best represents the animal’s natural habitat. Level 2 features animals that would live on the ground, and Level 7 has animals you would see in the sky.

In 2015, more than 100 children voted to help choose seven new ward mascots for the Premier Inn Clinical Building. Patients can now sleep alongside a giant pelican on Level 7, or meet the spotted leopard patrolling the corridors of Level 2.

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I HAVE… CYSTIC FIBROSIS Issy’s first visit to GOSH was when she was just four hours old. Issy has a disease that affects her everyday life and life-expectancy, but she certainly doesn’t let it limit how much she can achieve.

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When I was younger, one of my physios brought a trampette into my room. I used to bounce on that trampette as a form of exercise – the physios told me that exercise was important to manage my condition. Then my mum introduced me to everything she could think of to ensure I was keeping fit. I tried gymnastics, ballet, athletics, trampolining; you name it, I tried it.

My condition is called cystic fibrosis and it affects my breathing and digestion. Every day I inhale five medicines to clear the mucus from my lungs. I take a lot of tablets, antibiotics and vitamins. And I need high-calorie drinks to help me grow, as I burn off more calories than other people.

Nowadays my main sport is Irish dancing. I decided to try Irish dancing because somebody at my school did it and I thought it looked interesting.

When I told one of the nurses at GOSH, she said that there’s a dance school near to my home, and that I should try it. So, I did, and I loved it so

much I ended up qualifying for the World Irish Dancing Championships.

The first year I qualified, I ended up with vasculitis (an inflammation of the blood vessels) in my foot, so I couldn’t compete. I did take part in the opening ceremony on crutches though, and I got to meet Michael Flatley. The second year, my teacher was adjudicating, so I wasn’t allowed to participate then either. But finally, this year I got to take part.

Two-hundred girls from across the world qualified for the competition.

After the first two rounds, 150 dancers leave the competition and only the top 50 win a ‘recall’ place.

I got a ‘recall’! I came 46th in the world and was awarded a world medal. My family and teachers are really proud of me.

Issy showing Play Specialist Lizzie Penn her Irish dancing outfit.

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Issy mid performance at the Great Britain Irish Dancing Championships in 2017.

My dance teacher comes to the hospital to visit me and to run through some of my dances. If I can’t make it to class, I’ll bring my shoes to the hospital and the nurses always make sure they find a place I can practise. Quite often it’s down in the lung function area because they close that space earlier in the day.

My experience has been different to other dancers’ experiences.

World-class competitors have to train every day for hours and hours, but sometimes it gets a bit much for me. Obviously I train and work hard, but sometimes I cough at night and that keeps me awake and makes me really tired.

Having cystic fibrosis limits me from doing some things, and sometimes we need to change our plans. Every six weeks I visit the hospital for a clinical visit which lasts two to three hours. Then every three months I’m admitted to GOSH for two weeks for intravenous antibiotics and I have to go into an isolation room to prevent infection risks. I have treatment three to four times a day, physio three times a day, and all my usual medicines five times a day. I see all the doctors, dieticians and pharmacists, and they ask me how I am and see if I’ve grown.

I might feel a bit unwell before or after all that, so sometimes I need to take some time off from dancing.

The team at GOSH has always been really supportive. They always encourage me to do everything I want to do.

There’s always a doctor or nurse to help me if I need them, or to talk to me and my mum when we need a break from the ward.

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Patients with cystic fibrosis at GOSH get to have a personal training session once a week at Nuffield Health gym. I’ve got a personal trainer at our local Nuffield gym and I go with my friend from school. I don’t have any friends with cystic fibrosis, but my close friends know that I have it. They visit me in hospital and we walk to Covent Garden or Oxford Street and go shopping.

Going to hospital has become something I just accept. I know that it’s a safe place and that visiting helps to keep my cystic fibrosis stable.

My first visit was when I was almost

three years old. I was in hospital on my birthday and Lizzie Penn, the Play Specialist, came in with lots of birthday presents for me.

Lizzie nominated me for a wish from Rays of Sunshine. It’s a charity that try to grant the wishes of young people with serious conditions. I wished to swim with dolphins and they sent me and my family to Florida, with fasttrack tickets for Disney World, and they arranged for me to swim with dolphins. It was amazing!

In the future, I’d like to keep Irish dancing and perhaps win another world medal.

Professor Lucy Wedderburn looking at an ELISA plate with Lucy Marshall. Meredyth Wilkinson and Cherelle Allen (far right) pipetting.

CHILDHOOD ARTHRITIS: A JOINT PROJECT Professor Lucy Wedderburn leads the Childhood Arthritis Response to Medication Study (CHARMS), which has been supported by GOSH Charity and Sparks. The study, which has brought together teams and findings from across the UK and around the world, hopes to gain a better understanding of the causes of arthritis in children, and how best to treat those affected.

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AROUND

1 in 1,000 children in the UK have juvenile idiopathic arthritis.*

WHAT IS JUVENILE IDIOPATHIC ARTHRITIS? Juvenile idiopathic arthritis (JIA) is the name for a range of conditions that all have one symptom in common – an inflammation in one or more joints before a child turns 16.

The condition is caused when a child’s immune system goes into overdrive and attacks their own tissues.

Around one in 1,000 children in the UK have JIA*, and due to the variable nature of the condition, some families find the definition hard to process.

Lucy Wedderburn, Professor in Paediatric Rheumatology at UCL Great Ormond Street Institute of Child Health and a Consultant at GOSH explains: “For children at one end of the spectrum, it can be a very severe disease which used to be called Still’s disease. Back when I was training, there were children who still died of that condition. It’s a very severe disease that affects many parts of the body and has many complications. But at the other end of the spectrum, a child might have arthritis in just one joint. In that case, 14 PIONEER

we could give them an injection, they could get better and it may never come back.”

WHAT IS CHARMS? CHARMS is now 10 years old and has evolved a lot over the past decade.

In short, it’s a study that aims to help predict which children will respond well to certain JIA medications, and which won’t. This would help to predetermine which children will benefit from standard treatments, and which need to be fast tracked onto more powerful treatments.

Professor Wedderburn explains: “CHARMS has done the first ever, comprehensive genetic study to understand whether differences in a child's DNA can affect the way they respond to drugs. The study observes the cells we think are causing the arthritis, how they are affected by the drug methotrexate, and looks at whether we could devise a blood test that would predict if the drug is going to work or not.”

The CHARMS team at GOSH has also now successfully introduced the first ever test to determine how a patient will react to different drugs. This simple blood test gives parents of children with JIA an indication of their child’s chance of getting better on the medication methotrexate. Having this

knowledge helps doctors and families to make a more informed decision.

A NATIONWIDE PROJECT Reaching this point wouldn’t have been possible without collaboration.

For the past 10 years, the team at GOSH has been working with a team in Manchester, who lead on the genetics work. CHARMS now involves seven hospitals across the UK, and Professor Wedderburn highlights the importance of having a diverse set of patient data to work with: “We’re very aware that GOSH patients may be at the severe end of the spectrum, and we need to include children with all forms and all levels of severity of JIA.” Data Manager and Study Coordinator Cherelle Allen manages the study across all seven centres, collecting data and samples, and conducting follow-ups with the families involved.

“ In total, CHARMS recruited over 1,000 children and young people,” says Cherelle.

“Then three and a half years ago, we went to the Medical Research Council to ask for funding to put CHARMS

*Dr Kathy Bailey. 2014. What is JIA? [ONLINE] Available at: jia.org.uk/what-is-jia-. [Accessed 16 May 2018].

Pipetting DNA samples into a gel electrophoresis, a lab method used to measure DNA fragments.

together with other ongoing studies for the disease. And together, we had the involvement of 5,000 families.”

The work taking place in other sites across the UK contributes to one area of the study (the genetic study).

Cherelle explains: “They supply us with DNA taken from a child who has gone on to take the drug methotrexate. At GOSH, we’re looking at a wider range of medications and our samples are a bit more in depth. It’s easier for us to track a child’s progress and gather more patient information.”

“We still need to gather more data, but we did identify a set of genes that seemed to influence the failure or success of a drug, which is exciting.

We’re now at the stage where we could start to validate those findings.”

Collaborating with other countries has connected the team at GOSH with a larger European network of patients who represent many countries. Professor Wedderburn says: “We wouldn’t have gathered enough patient data to make these findings without the Dutch and the Czechs. It was vital that they partnered with us. It’s important that people do things collaboratively – it’s better for the children if everyone does that.”

THE POWER OF PSYCHOLOGY

think the way that parents cope with their child’s diagnosis can affect their child’s outcome.” The team recognised that having well-informed parents with a positive attitude could help to support children through their treatment.

From this discovery, the team decided to empower parents and guardians with better and more readily available information. Together with some of the parents involved in the study, they designed a website, full of useful information parents can access to find out more. Professor Wedderburn says: “Just being together in the website focus group was empowering for some parents.

You realise how useful sharing their experience is for those families.”

The team are currently testing to see whether having the support of a professional website for 6–12 months helps families to cope with diagnosis and treatment. If the website works well, the plan is to make it publicly available.

Another poignant observation to come from this study has been the substantial influence that psychology can have on a child’s healing process.

Professor Wedderburn says: “We

A WORLDWIDE PROJECT JIA affects children all over the world and there are many projects researching the causes and potential treatments. Professor Wedderburn explains how the study brought together teams from across the world: “It’s a small field, so we already knew that colleagues in other countries, such as the Netherlands, were doing similar things to us.

We reached out to them and they shared some of their information and samples, so we could look at genetic information from a large number of patients. This type of study needs lots of cases, and in the end, 800 children worldwide took part in the genetic study for CHARMS.“

Professor Lucy Wedderburn and Cherelle Allen in the research lab.

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PROGRESSION TO CLUSTER

Meredyth Wilkinson pipetting samples onto an ELISA plate.

Following the success of CHARMS, Professor Wedderburn and colleagues have recently been awarded £5 million by the Medical Research Council for a new project called CLUSTER. The Medical Research Council put out a call for researchers to identify disease areas where tailoring treatments to each child – known as personalised or stratified medicine – would be a huge benefit and could become a reality. They received applications covering 50 disease areas, and only four were given funding – CLUSTER is one of them.

CLUSTER is a UK-wide consortium of researchers who will look at personalised treatments for JIA and uveitis, an eye condition associated with JIA. Uveitis is a serious condition that can cause children to become blind, so diagnosing patients early is crucial.

Supported by additional funding from GOSH Charity, the project brings together scientists from Manchester, Liverpool, Cambridge, Bristol and London. It will build on the work conducted as part of CHARMS and will develop the research by gathering more patient data and exploring the causes and treatment of uveitis. Over five years, those involved in the project aim to identify which children are at risk from uveitis, predict long-term outcomes for these children, help doctors identify the best treatment, and identify new therapies and drugs with fewer side effects.

HOPES FOR THE FUTURE The ultimate aim for those involved in CHARMS and CLUSTER is to prevent long-term health problems associated with JIA. Professor Wedderburn says:

“ We know that a key way to prevent serious problems in adult life is if the child gets into remission quickly.“ “If you get the right drug early and you don’t stop the medication until it’s safe to do so, then you will cut down on joint damage, disability and weakness. For CLUSTER, just being able to detect uveitis early and knowing who is at risk of losing their sight would be a huge leap forward. “ By collaborating with researchers across the world, teams at GOSH are gaining a wealth of knowledge about JIA and moving ever closer to improved and personalised treatments and diagnoses.

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A multi-channel pipette being used to wash the wells within the plate.

WHY I SUPPORT THE CHARITY GILL MELEADY I was born with a condition called Hirschsprung’s disease, a rare bowel disorder.

I needed surgery straightaway so, when I was five days old, my local hospital operated and gave me a colostomy to create an opening to help remove urine and faeces from my body.

I was in hospital a lot for outpatient visits and operations to try and reverse the procedure and return my bowel to normal, but none of them were successful.

I started to come to Great Ormond Street Hospital (GOSH) in 1958, when I was three. Being in and out of hospital had a big impact on my childhood and my mum and dad’s lives. It affected my grandparents too, because they had to look after my brother Harvey when my parents were visiting me.

Although there were some bad times, most times were good and I can remember making lots of friends.

One time when I was an inpatient over Christmas, we had a party and a concert on the ward. There was a present underneath the tree for me and one for Harvey too.

Doctors told my parents there was no known way of reversing the colostomy.

But that changed in 1963 when GOSH surgeon Mr Nixon used a pioneering operation. I remember lifting my blankets and saying ‘Look Mummy, it’s gone!’.

As I’ve got older, I’ve realised just how important GOSH has always been to me. I am incredibly grateful for the skill and dedication of the doctors and nurses. I will never forget how they changed not only my life, but my parents’ lives as well.

I have gone on to have a family and lead a wonderful life, one which I may not have been able to have without GOSH. My husband John and I both wanted to give something

Gill with her brother Harvey.

back. My experience has had a big influence on John. He has visited the hospital and seen the tremendous work they do.

We started donating monthly by direct debit. Then we both decided that we wanted to leave a legacy gift in our Wills. The hospital does amazing things every day and John and I wanted to help them do more amazing things in the future.

Gill with her husband John.

It’s only through research that GOSH were able to find a way of helping me.

The gift in our Wills means there will be money in the future to continue research and pioneering work at GOSH. That’s what so many babies and children need for their own tomorrow. What better legacy can we leave than to carry this on?

LEGACY OPEN DAYS

“As I’ve got older, I’ve realised just how important GOSH has always been to me. I am incredibly grateful for the skill and dedication of the doctors and nurses. I will never forget how they changed not only my life, but my parents’ lives as well.”

Monday 10 September 2018, 2-4.30pm

Come to one of these small, informal events at the hospital to find out 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 and have a guided tour, including a research lab.

Tuesday 2 October 2018, 2-4.30pm Wednesday 24 October 2018, 2-4.30pm To book a place for you and a guest, or for more information about gifts in Wills or our free no obligation Will-writing service, please call Judy Anderson on 020 3841 3205 or email legacy@gosh.org.

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OUT OF

THE BUBBLE One-year-old Henry has severe combined immunodeficiency (SCID), a group of rare, inherited disorders that affect the immune system. Patients like Henry often have to live in a sterile environment with a barrier between them and the outside world, giving rise to the term ‘bubble baby’ syndrome.

Henry was given a 10% chance of survival, until a bone marrow transplant from his older brother dramatically improved his condition. Pioneer speaks to Henry’s mum, Maria, and three members of staff at GOSH who were instrumental in his care.

MARIA, HENRY’S MUM “Shortly after he was born, Henry had a persistently high temperature and contracted lots of infections. I knew something was wrong. After being seen by our local hospital a number of times, we were referred to GOSH when Henry was seven weeks old.

“I was devastated when we received the SCID diagnosis. Henry had to be isolated, because his condition meant it was dangerous for him to come into contact with anyone else – any infection was lifethreatening. After a while, he was transferred to the hospital’s Paediatric Intensive Care Unit (PICU), which is where he stayed for six weeks and where he ultimately received a bone marrow transplant from his two-yearold brother, Oscar.

“Being in intensive care was the most terrified I’ve ever been, because every child in there is fighting for their life. The PICU staff make all the difference – they really cared and made the experience as positive as possible.

They did everything they could to save Henry’s life.

“In September, we found out that Henry had 100% engraftment, where the stem cells from the transplant start making healthy blood cells – that was a poignant moment. I remember crying and saying, ‘that means he’s not going to die’, words that I was unsure we’d ever get to say.

“By December, we knew the transplant had been a success. We still have to be careful, but we’ve now moved on to long-term follow-up on Safari Day Care, which is where our journey at GOSH started. Without the staff, we wouldn’t be where we are now – just to be able to be together as a family again is miraculous!”

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Jinhua provided Henry’s family with genetic counselling and Austen treated Henry at GOSH.

AUSTEN WORTH

CAITRÍONA MORRISSEY

JINHUA XU-BAYFORD

PAEDIATRIC IMMUNOLOGIST

STAFF NURSE, PAEDIATRIC INTENSIVE CARE UNIT

CLINICAL NURSE SPECIALIST, GENE THERAPY AND IMMUNOLOGY

“Henry had a couple of infections and his local hospital noticed his blood results were abnormal.

We did our investigations and diagnosed him with SCID.

“The environment on PICU can be quite overwhelming. Henry came to us as a clinical emergency. He needed extra respiratory support and oneto-one monitoring that couldn’t be provided on the ward. I helped the admitting nurse to settle him and I nursed him for three days in a row.

“I lead a team of nurses looking after patients with disorders that affect their immune systems. Day-to-day, I talk with families, liaise with local hospitals, and provide guidance and support.

"I had a long discussion with Maria and her husband, Stuart, about what the diagnosis meant – Henry has quite a rare form of SCID. We discussed the possibility of treating him using a bone marrow transplant without chemotherapy – known as an unconditioned transplant. We told Maria and Stuart that if Henry had a sibling who was a complete match, we could use their stem cells and infuse them in the same way as a blood transfusion, without any extra treatment.

"The best chance of success with an unconditioned transplant is to carry it out within the first three to four months of life. So it was an urgent decision to make. Maria and Stuart decided to go ahead with the procedure.

"While we were waiting to give Henry the treatment, he developed a severe viral infection – which significantly reduced his chance of survival – and so he was moved to intensive care.

“Today, Henry’s immunity looks really good. And in time, the family will be able to treat him like a completely normal young boy. “

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“There are a lot of people from different teams involved in the care of a patient like Henry. They visit the ward and talk with the parents about what they think is the best course of treatment. We help to consolidate that information for the parents and formulate it into a plan.

“I always try to make the experience of being on PICU as easy as possible, by guiding families through the process, explaining the tubes and wires, and what different alarms mean. I use the tactic of communicating everything to the families, alongside some general chit chat, which helps to normalise it a little.

“When Henry first came to PICU, I remember saying to Maria and Stuart that he looked like a little Ed Sheeran!

He was very cute.

“It could have gone either way for Henry: children like him are very delicate, and parents are well aware of how quickly they can become sick.

Thanks to a combination of teamwork on the ward and the clinical site practitioners, we were able to intervene with him very early.”

“Before Henry came to GOSH, I spoke to Maria on the phone, to provide support and information about what happens for newly diagnosed patients. The first time I met them, Henry was on Safari Ward. He looked very sick.

“Henry’s parents were brave while he was on PICU: they wanted all the facts and to face the reality of the situation.

I also provided the family with genetic counselling – I gave them information about the disorder and explained the options available to them, to help them plan for the future.

“Early diagnosis of SCID makes a huge difference, and some families have been campaigning to secure newborn screening for the condition.

Two families whose babies tragically passed away have been helping to explain why early diagnosis is so important. If SCID had been picked up earlier in their children, it could have saved their lives. We’ve been heavily involved in the drive to include it as part of the NHS newborn blood spot test, which screens for rare but serious conditions when babies are just five days old. We’re very happy that the UK National Screening Committee has recently allowed a pilot study to take place.”

BREAKING FREE FROM THE MOULD The Orthotics team at GOSH builds custom-made equipment to help children across the hospital.

The equipment is often unique to that patient, who will have a mould taken of their body shape to ensure the final product fits like a glove.

Five-year-old Harry has early onset scoliosis – a curvature of the spine.

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Thomas is determined to run around and play with his friends.

These wearable pieces of equipment – known as orthoses – are for children of all ages, with a wide range of conditions including cerebral palsy, spina bifida and scoliosis. They include spinal braces, leg braces, insoles and specialised footwear, all of which are customised to suit each child’s needs.

Bracken Pluckrose, who is a member of the Orthotics team at GOSH, describes orthoses as:

" Devices that an individual wears to either improve their ability to move, or to support their posture and allow them to function more easily."

Young people at GOSH might temporarily wear an orthotic device to keep their limbs in the correct position following surgery, or they might have a permanent brace to help them with their posture.

As the team supports young patients with a range of conditions, they work with numerous other teams in the hospital. Orthotist Laura Cruickshank explains: “We conduct joint assessments with any member of staff, mainly physiotherapists, and we get patient referrals from staff across the hospital. If other teams are running out of ways to help in their area of speciality, they often come to us to think out of the box and to create something custom-made, to see if we can help their patients.” And the effects that orthoses can have are huge, Laura continues: “We saw a boy recently who had incredibly tense toes and couldn’t move his leg. When we relaxed his toes with an orthosis, his whole leg relaxed.”

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BABY STEPS FOR THOMAS Thomas is a patient at GOSH and is familiar with the skills of the Orthotics team and the positive effects orthoses can have.

In the words of his mum, Thomas presents "a bit of a mystery" to the doctors who have treated him.

Georgina explains more about her son's condition: "When he was born, his leg was bent up at a 90-degree angle and stuck in that position. He couldn’t straighten it all. We know that Thomas has a knee flexion contracture – an inability to fully straighten the knee – but we don’t know why."

So far, Thomas has had six operations to straighten and lengthen his leg.

During his time at GOSH, he's had splints, casts and frames, each designed and constructed in the Orthotics department.

Georgina remembers Thomas' difficult early days: "For over a year we would go to toddler groups or to nursery and see other children his age walking or crawling. It was tough to see the other children because Thomas couldn’t walk yet, so we had to set a goal.

"My sister was getting married and I wanted him to walk down the aisle as a pageboy. Thomas started walking when he was two and a half, just in time for the wedding. But when the church doors opened and he saw all the people lined up and facing him, he had a meltdown and I had to carry him. He ripped my bouquet to bits!"

Thomas, who is now eight years old, has his own goals: "I want to have a leg like everyone else’s – to have a leg that I can bend and straighten. I want to be able to do what everyone else can do, to run around and play."

"MY LEG HAS A SUPERHERO ON IT!"

Pelesmenia and Thomas with a healthcare assistant on Sky Ward.

Orthotics can improve the way a young person views their condition or disability. Team member Bracken explains the impact that orthoses can have: "I think the field of orthotics is really important in making children feel able-bodied. If you make a child feel able – so they can go to school and run in the playground with their friends – then you've made a huge impact."

Children often see their device as a new gadget that they want to decorate and customise.

Bracken says:

" A child’s perception of disability is sometimes very different to that of an adult.”

“They often don’t see themselves as less able and they’ll try any leg brace you tell them to if it makes them quicker. Because children love function. And they look at a customised leg brace and think, ‘Great, now my leg has a superhero on it and I can run faster!' While adults appreciate function, they tend to prefer something a bit more discreet.”

Harry, age five, has a pirate-themed brace for his curved spine.

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Plaster of Paris is used to create moulds for children’s orthotic devices.

IN WITH THE OLD, IN WITH THE NEW In a hospital that is being revolutionised through advances in technology and science, it might seem strange that the Orthotics team still gets their hands dirty making moulds from plaster of Paris and tailoring devices in the on-site workshop. The team has trialled using laser scans of patients to produce 3D-printed devices, but Bracken says that sometimes there are benefits to a traditional material and approach:

Since the Paralympic Games in London in 2012, orthotists at GOSH have noticed a huge increase in the demand for devices made from carbon fibre. Orthoses made from carbon fibre are lightweight, functional and strong – making it easier for those who wear them to run around and play like everyone else. The hospital is fortunate to have close relationships with many manufacturers, meaning that patients at GOSH trial some of the most advanced, ‘first-edition’ paediatric braces in the UK.

" We can get such good accuracy by using our hands.

There's a reason why plaster of Paris has been used for hundreds of years – it works so well."

While classic materials are championed in some areas, the development of carbon fibre has had a huge impact in the field of orthotics.

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Orthotist Sarah rejoining the two pieces of Harry’s cast.

ZOOMING THROUGH THE HOSPITAL Orthotic devices have supported Thomas since he was a two-and-ahalf-year-old being carried down the aisle by his mum. Today, they help him to zoom up and down the corridor in the Physiotherapy department at GOSH. Having a customised device has given him the support he needed to do the things he enjoys. And with the imagination of people like Bracken, customised orthoses are continuing to shape better futures for children and young people across the hospital.

ALL EYES ON CELL THERAPY Like the film in an old-fashioned camera, the eye’s retina captures images from the world around us. It’s embedded with millions of light-sensitive cells that trigger messages sent to the brain, where they’re developed into the movie of our life. However, faulty genes can disrupt the film’s script by altering the way the retina forms in the womb, causing the retina to deteriorate, and inevitably, causing a lifetime of blindness.

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ONE IN

2,500

children in the UK are diagnosed as blind or severely visually impaired by the time they reach their first birthday.

Professor Jane Sowden, who heads the eye development and repair group at the UCL Great Ormond Street Institute of Child Health (ICH), has spent more than 20 years understanding how the retina forms before birth and identifying key genes responsible for childhood retinal diseases. With support from GOSH Charity, she is now using this insight to develop new cell therapy treatments to repair damaged retinal tissue and restore sight.

DISCOVERING THE GENETIC LINK One in 2,500 children in the UK are diagnosed as blind or severely visually impaired by the time they reach their first birthday. As many as half of these cases are due to genetic errors that arise in the child’s DNA or errors that have been inherited from their parents. In 1996, when Professor Sowden first started researching the genetics of eye development and disease, some of the first genes that cause eye diseases were being identified. Now, researchers have discovered more than 400 genes linked to eye conditions, with over 200 of these linked to retinal degeneration.

“Finding the faulty gene in a newly affected child was, until recently, a trial and error process. It relied on clinicians suspecting the faulty gene before verifying it. But this method was still relatively slow as we could only examine one gene at a time, which made the likelihood of finding 26 PIONEER

Professor Sowden’s team grows cells in a dedicated tissue culture facility, funded by GOSH Charity.

the faulty gene and reaching a diagnosis extremely low. We were unable to provide a genetic diagnosis to many families seen in our eye clinics,” explains Professor Sowden.

“New technologies made it possible to screen multiple genes simultaneously, increasing the likelihood of a diagnosis being made. There needed to be a test that could screen for all known genetic mutations in one go.

This inspired us to develop a panel test, called the Oculome, that screens for more than 400 genes known to cause sight problems.

“This test offers patients and their families a quicker diagnosis and, by

knowing their condition, identifies which children are suitable for new treatment trials such as gene therapy for specific faulty genes. Working with the GOSH diagnostic lab, led by Dr Lucy Jenkins, we are now offering this test nationally on the NHS.” A genetic diagnosis marks an important step towards developing new treatments. “We need to identify children with mutations in the same genes and follow how their condition progresses and how the disease varies between children, as the disease affects some more severely than others. By combining genomic and clinical studies we

hope to identify new factors that reduce the severity of the disease.

As children with eye conditions often have syndromes that affect other parts of the body, the genetic test helps ensure that the child is seen by all relevant clinical specialists. It also highlights children who do not have genetic mutations in the genes we are already aware of, which helps us to discover new genes to monitor.

Soon, the research community expects to know all the genes that can cause eye diseases when mutated.

This will help to build a complete picture of the genetic pathways needed to create a seeing eye.”

RAISING SIGHTS WITH RESEARCH Over the last two years, more than 120 families at GOSH have participated in Professor Sowden's genetic research studies and have been given information and genetic counselling. Some of these families have donated skin cells, which Professor Sowden is using to guide new stem cell therapies that may one day restore children’s vision.

“We’re working on two interconnected areas of stem cell-based therapies for retinal disease. They both involve growing stem cells, which we create using special chemicals that turn donated cells (from something as simple as hair, skin or blood), into new retinal tissue. “

TEST-TUBE RETINAS “The first therapy grows stem cells from healthy donated cells and uses them to make new retinal tissue. In our laboratory, we can grow threedimensional eye cups that mimic the growth and development of the retina before birth. These provide an unlimited source of retinal cells to replace those that die in retinal diseases. Light-sensitive cells in the retina cannot divide and reproduce, which is essential in the healing process, so creating a bank of healthy retinal cells is key if we are going to help these children to regain sight.”

Professor Sowden hopes these ‘test-tube retinas’ will be ready to transplant into human eyes and repair damaged retinal tissues in the next five to 10 years.

“The second therapy uses the same system, but with stem cells grown from patients who carry genetic mutations that cause retinal disease.

This provides a lab model of the disease, which has not previously been possible. We rely on these models to understand the molecular changes that cause the light-sensitive cells in the retina to die. The models allow us to discover which molecules could be added to prevent the disease’s progression. We can also edit the DNA of the patient’s cells to correct the mutation using new molecular scissors, which can target and cut out the faulty part of the gene.” This offers an alternative

method of creating healthy retinal cells for transplantation. One major advantage of this method is that transplanting a patient’s own cells reduces the risk of rejection.

LOOKING INTO USHER SYNDROME In collaboration with Professor Maria Bitner-Glindzicz, Clinical Geneticist at the ICH, Professor Sowden’s team is using stem cells from donors to inform treatments for Usher syndrome. This condition is the most common genetic cause of combined deafness and blindness. “We’re particularly focused on Usher syndrome because children lose their hearing first, before losing their vision,” reveals Professor Sowden.

“ There is a window of opportunity before they progressively lose their sight.”

WAIT AND SEE In a laboratory setting, Professor Sowden’s team has already shown that injecting healthy retinal cells could help to reverse sight loss.

Excited by these results, her team is now working hard to test whether the approach could one day restore vision to thousands of people who have lost their sight, repairing their film reel and letting their movie play on.

Professor Sowden studies a collection of cells that mimic the human retina.

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Pamela has night blindness and a tunnel-like field of vision.

PAMELA’S STORY Three years ago, at age 16, Pamela was diagnosed with Usher syndrome type II, a rare genetic condition that causes progressive hearing and sight loss. Since her diagnosis, she’s donated skin cells to help pioneering stem cell research that Professors Maria BitnerGlindzicz and Jane Sowden hope one day will restore vision to thousands affected by sight loss.

Pamela first started to lose her hearing when she was just three years old. From then, it became progressively worse, until the age of 10, when she came to GOSH and met clinical geneticist Professor Maria Bitner-Glindzicz. In their first meeting, Professor Bitner-Glindzicz tested Pamela to see if she had any of the genes that were known to cause deafness, but the results were negative.

Equipped with hearing aids and speech and language therapy, Pamela was able to live a normal life. But, four years later, she noticed something was wrong with her vision.

Pamela explains: "At my local drama group, we were doing our annual Christmas show. I remember it being pitch-black backstage and everyone was running around, but I couldn’t see a thing. I wondered why everyone else could see apart from me."

For the next year, Pamela had tests at her opticians, local hospital and at Moorfields Eye Hospital. She remembers it being a difficult time: At age 16, she returned to GOSH for a deafness gene panel, to screen

for genetic mutations that cause deafness. Having made a huge leap forwards in understanding how our genes work, GOSH was then able to diagnose Pamela with Usher syndrome type II. As well as hearing loss, the condition causes progressive sight loss, as light-sensitive retinal cells begin to degenerate. Pamela now has night blindness and a tunnel-like field of vision.

She has regular check-ups to monitor her hearing and vision loss, which seem to have stabilised in the last few years. Adjusting to the gradual loss of her senses has been a challenging process. "Since my diagnosis, I've learnt to do everything much slower,” says Pamela. “Before, I was trying to do things as normal and hurting myself all the time."

Research has played a big part in helping to diagnose Pamela and that research wouldn’t have been possible without donations from generous supporters. Last year, to help research into new treatments for retinal disorders, Pamela met with Professor Bitner-Glindzicz and donated some of her skin cells.

Pamela says: "I knew I’d be helping loads of people, that’s why I decided to donate my cells. I remember

“ That year I was bumping into and tripping over everything, especially at night. It was upsetting not knowing what was happening to me."

28 PIONEER

being scared of the needles, but with the local anaesthetic I didn't feel anything! It was over so quickly.

I would do it again. My advice to anyone considering taking part in research is just do it, because you're helping so many people."

Pamela is now continuing her altruistic streak by training to be a nurse. "I just started my first year of training, which I'm really enjoying. Recently, I was helping to do skin biopsies, which was what was done to me! So far, the only challenge has been the dim lighting on the wards during night shifts. But my current placement is in a well-lit clinic, which is great."

Throughout her experience, she’s had the love and care of family and friends. Pamela says: "My mum is so supportive. She picks me up when I'm out and sends me information about various trials and research on Usher syndrome. My cousin ran a marathon, and is running another this year to raise money for Sense, the disability charity that introduced us to Professor Bitner-Glindzicz." With the support of family and friends, and the hope of what GOSH’s pioneering research projects could bring, a more hopeful future is in sight for young people like Pamela.

By supporting the summer Pioneer Appeal, you can help to fund potentially life-changing research projects and give young people, like Pamela, the chance of a better future.

Chief Pharmacist Judith (left) and Dispensary Manager Ann inside the 12-metre-long robot.

LIFTING THE LID ON THE PHARMACY TEAM Pioneer meets the team tailoring medicine for children, working with robots and responsible for dispensing drugs.

Judith Cope gives Pioneer some insider knowledge of what it’s like to work in the Pharmacy team.

MORE THAN DISPENSING When we think of the pharmacy, an image of someone handing out medicines in paper packages tends to spring to mind. But as Chief Pharmacist Judith Cope tells us, there’s a lot more to pharmacy than ordering and dispensing medicines.

There are around 115 people in the Pharmacy team at GOSH, and around half of those are pharmacists.

The rest of the team is made up of pharmacy technicians, assistants and trainees. While the technicians play a vital role in preparing and dispensing medicines, the pharmacists devise and supervise treatment plans for patients, offer advice and make sure the correct medicines are prescribed.

Together, the team supports around 200 clinical trials at any one time and their level of support varies hugely from one trial to the next. Judith says: “It can be making medicines up, dispensing them to patients, or even supporting patients on a placebo – a medicine with no healing effect, that is used as a way to compare results when testing new medicines.”

Several team members working on these clinical trials are funded by GOSH Charity.

Many of the pharmacists at GOSH are fully integrated into other teams around the hospital. Judith explains: “We have a significant number of pharmacists who are almost all ward-based. They’re supporting

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Team members loading up the robot with medicines.

patients’ admissions and discharges, making sure they understand their medicines, and helping the nurses and doctors prescribe and administer those medicines safely. They see pharmacy as their ‘home’, but most of the time they are working with people from other teams.” And this support goes beyond helping other teams at GOSH. The pharmacy also has a section that takes calls from healthcare professionals at local hospitals. The team advises them on best practice for the medicines prescribed to patients when they were at GOSH.

HOSPITAL PHARMACIES HAVE ROBOTS While the pharmacists support other teams across the hospital, they’ve got Phred on hand to support them. Phred is the nickname for the Pharmacy team’s 12-metre-long robot and while he’s quite narrow, he holds the majority of the hospital’s medicine. Judith tells us more about why this robot is such a vital member of staff: “He does two things. He increases the accuracy of selecting the right medicine and reduces the amount of storage space we need. If I bring a prescription to pharmacy, I create a label and then from that, the robot selects the correct drug and delivers it to the person dispensing it. It’s very efficient as it can store things randomly. When you’re relying on humans you need to keep things 30 PIONEER

in alphabetical order, so you don’t maximise space. But the robot will find a space anywhere and put it there. It has some limitations though – we don’t put liquid medicines in it because the bottles come up in the chute and they might smash. It needs to be in a box and not be too heavy.”

From the outside, Phred looks like a giant vending machine with a glass door, but Judith has ventured inside and describes his inner workings: “If you go in, it’s quite narrow, but wide enough that you can walk down the middle if you need to. In that middle bit is a big arm, and on both sides are glass shelves where all the medicines are stored. The robot arm moves up and down. It whizzes along and up and down the shelves, and then uses its suckers and grippers to select the package.”

Phred’s arm selecting patient medication.

A PILL THAT’S EASIER TO SWALLOW One of the major challenges for pharmacists in children’s hospitals is that almost all medicines are made for adults. Judith reveals the complexities of tailoring medicines for children: “In general, children are mostly well, so most medicines are made for the elderly, and many don’t come in the strengths or preparations that are appropriate for children. We have to take adult preparation and tailor it slightly. But we can’t do very much, otherwise we would become legally responsible for the medicines and the effects they may have.”

To overcome the restrictions attached to medical products, Judith and her team get creative. “We did a project with some of the children who take a

lot of HIV medicines. These children need to take tablets perhaps two or three times a day, and as a child, you must get really fed up with the taste of the medicine. We used flavoured sprays that tasted nicer and made it easier to swallow the solid medicines.”

SOPHISTICATED DRUGS

FISH AND CHIPS ON DRIPS

“ We’re moving towards personalised medicine – being able to say you have disease X and your specific genetic issue is Y, so drug Z would be best for you,” Judith says. “The pace of change is fantastic, but it’s also quite a challenge.”

A more surprising element of the Pharmacy team’s role is to manufacture medicines and get them in ready-to-use form for the nurses to give to patients. The team creates something called parenteral nutrition, which is a nutritional formulation.

This is for when children can’t eat properly, and can’t even absorb liquid foods through their gut, meaning they have to be fed through an intravenous route. “You can get your equivalent of fish and chips through an intravenous drip,” Judith says. “We feed between 35 and 45 children a day on parenteral nutrition. That’s about 10–15% of the hospital’s young patients, at any time. If it wasn’t available, many children wouldn’t survive. I don’t think many people are aware that parenteral nutrition for children isn’t readily available, that it’s made to meet the needs of each individual patient, and they’re all different. A bit like when we eat, some of us need more than others and the need for vitamins and electrolytes changes from patient to patient.”

As our understanding of rare and complex conditions improves, so do the treatments offered. The more knowledgeable researchers become, the more targeted and personalised treatment becomes.

There’s a large amount of research going on in the UCL Great Ormond Street Institute of Child Health (ICH) and many consultants want to put their research findings into practice.

The Pharmacy team is involved in making the decision of whether it’s the right thing to do for the patient and whether it’s an affordable treatment to offer. The consultant and pharmacist often work together on an application which is submitted to

A behind-the-scenes look at the team at work in the dispensary.

a committee who will decide whether the drug is approved. If it’s approved, the pharmacist writes a set of guidelines to help people understand how to use it.

Proving that a medicine is effective, appropriate and affordable is a tough job to have, especially when new medicines come at such a high price. “They start off very expensive,” Judith explains, “then over time they come down in cost, as they lose their patent. Nowadays you can buy ibuprofen in Tesco for 35p, whereas 25 years ago, when it first came out, it was relatively expensive. But almost anybody could make ibuprofen – it’s a simple chemical molecule.

“Some of the innovative things we do here come down in price when their patent is lost, but as they are technically difficult to make, only a few people can enter the market, meaning it doesn’t come down in price as much. As we’ve identified the exact receptors we need to target to improve a child’s condition, drugs have become more sophisticated and therefore their preparation is more sophisticated. So inevitably they end up costing more.”

NOT SLOW. STEADY. With an ever-expanding range of medicines, checking patients’ prescriptions becomes even more crucial. “Often people think we’re very slow in the dispensary, that they’re just asking for a tube of cream. But that isn’t always the case,” Judith reveals. The Pharmacy team performs multiple checks to make sure patients are receiving the correct drug and dosage. And as they are the final check in the prescription process, their job comes with great responsibility.

So, while we already know we would be lost without the people telling us where to sign for our paper packages, we also know that with that package comes an impressive level of expertise and an extraordinary level of care.

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THE PIONEER INTERVIEW DR KARIN STRAATHOF

PAEDIATRIC ONCOLOGIST AND WELLCOME TRUST CLINICIAN SCIENTIST Each year in the UK, around 30 children are diagnosed with diffuse intrinsic pontine glioma (DIPG), the most common cause of brain tumour death in children. We urgently need new treatments for these children. Pioneer speaks to awardwinning and GOSH-Charity-funded Dr Karin Straathof, who tells us why immunotherapy could be a much kinder option for these patients.

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Congratulations on receiving the Dr Simon Newell Early Career Investigator of the Year Award, funded by Sparks – part of the GOSH Charity family.

Thank you very much. I’ve been very fortunate, and I feel honoured. I’m delighted, because not only does it mean a lot to be recognised for my work, but it’s also important for the people who have been teaching me, and the people I’ve been working with. It’s a team effort.

The award, in partnership with the Royal College of Paediatrics and Child Health, recognises the potential impact your immunotherapy research could have. What is immunotherapy and how can it help children with cancer?

Our immune system naturally recognises ‘foreign’ cells, hunts them down and destroys them. But because cancer affects our body’s own cells, the immune system usually sees these cells as ‘friendly’ and doesn’t attack them. I’m trying to change that by programming immune cells to recognise and destroy these tumour cells, while leaving our body’s other healthy cells unharmed. That’s immunotherapy – treating a disease by enhancing or supressing our body’s natural immune response.

We’re looking at a kind of immune cell called a T-cell. We want to modify these cells so that they produce a special molecule on their surface.

Those molecules recognise a specific part of the cancer cell, signalling to the T-cell that they should hunt it down and destroy it. The molecules are called chimera tumour receptors (CAR) and so the immunotherapy is called CAR T-cell therapy.

CAR T-cell therapy has already seen hugely promising results in children with blood cancers like leukaemia.

My research explores using immunotherapy as a new treatment for children with brain and nervous system tumours. Immunotherapy treatment works well with children as it only targets the cancer cell and doesn’t affect the child’s healthy tissue. You want to cure children without causing other long-term side effects, and immunotherapy has the potential to do that. At the

minute, this type of treatment isn’t an option for many children with cancer because we need more research.

I think immunotherapy will have a significant impact on treatments for cancer – particularly childhood cancer – as many conventional therapies have a negative effect.

For example, radiotherapy and chemotherapy can sometimes have side effects such as damage to the heart, kidneys, lungs and thyroid gland, as well as impaired brain development and infertility.

I think there is great potential for immunotherapy to address the deficit in conventional cancer treatments.

How did you first become interested in immunotherapy?

I’ve always been interested in doing a combination of research and clinical work. During medical school, I did an integrated degree where I studied both clinical medicine and biomedical science, which focuses on how cells, organs and systems function in the human body.

I wanted to focus on childhood oncology because, as treatment for cancer is a long process, you really get to know the child and their family.

I like being a clinician, but it can be difficult when the best treatment you can offer still isn’t effective for some of your patients. Having this other side to my work, where I’m developing new and better treatments to improve the outcome for these patients, provides a nice balance.

You’ve recently been awarded funding through the GOSH Charity and Sparks national research fund. Tell us about your research project.

The grant is supporting the development of CAR T-cell therapy for children with a rare type of brain tumour called diffuse intrinsic pontine glioma (DIPG). DIPG is a tumour that grows around vital brain

tissue, making it impossible to treat.

Surgery, which is usually a major step in treatment for cancer, just isn’t an option. Currently, despite significant research into better treatments for children with DIPG, the average survival time after diagnosis is just 9–15 months.

We think there’s real potential in applying CAR T-cell therapy to DIPG, but first we need to find a unique marker that only appears on DIPG cells. We can then programme the T-cells to recognise this marker, so that they only destroy cancer cells and don’t harm any healthy tissue. To do this, we need to study the genetic code of DIPG tumours and compare that to healthy brain tissue, to find that unique marker.

We use samples that have been donated to the hospital for research.

Without this step in our research, we can’t direct the T-cells safely to the tumour. We need to do this before progressing with developing the treatment.

How important is this grant from GOSH Charity and Sparks?

Really important! Grants allow you to build a solid set of data to demonstrate that your idea is valid and worth pursuing. Demonstrating the validity then allows you to apply for other, larger grants and to progress to clinical trials. Each step gets us closer to potential new treatments and cures and getting those breakthroughs to the children who need them most.

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A PARENT’S PERSPECTIVE

BY GABRIELLA’S MUM, SARAH

The first time we knew there was a problem was when she was born – Gabriella wasn’t breathing. We spent the first five and a half weeks of her life in a neonatal intensive care unit.

It was traumatic and unexpected – we didn’t know if our little girl was going to survive.

We were quickly referred to GOSH. Our first trip was when she was about three months old, and we talked about replacing her feeding tube with something more permanent. We were feeding Gabriella through a tube from birth and at the time she had a tube down her nose, past her throat and into her stomach.

Gabriella has cerebral palsy, a condition that causes motor impairments and development delays. As well as feeding, it affects her ability to speak and move.

Coming to GOSH felt very overwhelming. You’ve heard of the hospital and you know it’s for really sick children, and you don’t expect that you’ll ever need to visit as a parent. It was scary, but reassuring to know that we were in good hands.

GOSH is such a welcoming hospital.

It’s brightly coloured, there are pictures everywhere, and volunteers to help you find where you need to go.

Having the sensory room in the ward is wonderful. Gabriella absolutely loves it – she rolls around on the mat and loves the fibreoptic lights. It’s not a medical environment, so you can just sit there and have fun without beeping machines. It’s a lovely space.

It’s helpful talking to other parents going through similar situations – everyone’s in the same boat. The most important thing to do is to be

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brave and trust yourself as a parent – you know your child better than anyone. We were nervous to begin with, but as time has gone on and I’ve got to understand the demands of Gabriella’s condition better, we’ve become more confident. If you’re informed, you can have a proper discussion with the staff, who can always give you a little more time to think about any decision you may have to make.

Gabriella’s most recent operation wasn’t a success, but we’ve made the decision to move her onto a blended diet, which has made a huge difference to our home life because it helps her to tolerate food much better.

It feels like I’ve got a new daughter – she’s infinitely happier, and we’re getting something resembling a more human level of sleep! We’re a dramatically different family, and I’m very proud of us for making that decision.

I don’t think there’s a GOSH parent out there that could manage without the support of the charity. I’m so grateful to the people who help us. Truthfully, we didn’t expect to be this kind of family. We didn’t expect to enter this world. But while you don’t want to be in this situation, once you’re here it’s an amazingly supportive place to be.

You see the very best of human kind, you really do.

“ Having the sensory room in the ward is wonderful. Gabriella absolutely loves it – she rolls around on the mat and loves the fibreoptic lights.”

Sarah and Gabriella enjoy playing in the sensory room in Panther Ward in the Dorfman Surgery Centre.

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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.

Five-year-old Harry has scoliosis, a curvature of the spine.

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

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