In 2009, Eliana, at age eight, did not appear to be growing, was not eating properly and felt tired all the time so concerned parents Tara and Paul took her to see a paediatrician who ordered a scan. They thought she might have tonsillitis and were certainly not expecting the news that she had an enormous lump in her abdomen. Fearing it might be malignant, Eliana was immediately referred to Great Ormond Street Hospital.

“At first we didn’t know if it was cancer,” recalls mum Tara, “so we were absolutely devastated.”

Fortunately, it wasn’t – but that didn’t mean things were going to be straightforward. In order to attempt to shrink the tumour Eliana underwent 15 months of draining chemotherapy.

Great Ormond Street Hospital is currently the main centre carrying out this type of highly specialised surgery. From November 2012 existing services in other parts of the country will be developed in Bristol, Manchester/Liverpool and Birmingham, enabling doctors to treat three times as many patients as they currently do.

Epilepsy is a tendency to have recurrent seizures and affects around 600,000 people in the UK. However, approximately one third of patients do not respond to medication, continuing to experience seizures. For a proportion of this group brain surgery can be highly effective, leading to seizure freedom in up to 80 per cent of cases.

Professor Helen Cross, The Prince of Wales’s Chair of Childhood Epilepsy at Great Ormond Street Hospital said the expansion of the service was great news for families and children with epilepsy.

“Seizures are caused by a sudden burst of excess electrical activity in the brain, causing a temporary disruption in the normal message passing between brain cells. This disruption results in the brain’s messages becoming halted or mixed up.” Professor Cross said.

“Epilepsy surgery allows us to remove or modify part of the brain. Having four expert services across the country will enable us to make this surgery available to far more children, as well as reduce current waiting times for assessment for possible surgery.”

Professor Cross said having a child with epilepsy has a major impact on family life. “Seizures are unpredictable and managing them can be difficult. When surgery is discussed sometimes parents are worried or see it as a last resort. However, having this type of procedure can make a huge difference. Many children are completely seizure free after their operation and go onto lead more normal lives,” she said.

One such patient at Great Ormond Street Hospital, Maddie, underwent three operations when she was nine years old. She originally had small seizures when she was five, which then developed into having four to six a day. Her condition got worse as she got older and medication proved ineffective in combatting the seizures.

Referred to Great Ormond Street Hospital when she was eight years old, she was operated on a year later. Since then she has been free of seizures and was even able to stop her medication recently.

Her mum Karen says: “This procedure has changed Maddie’s life. Her IQ has increased and she has caught back up in school. She is now a normal happy 12 year old girl and able to lead a full life.

It has changed our family life dramatically, particularly for our son Daniel who is three years younger than Maddie. We are so thankful to GOSH and the Epilepsy Surgery Team.”

A recent report by ‘Young Epilepsy‘ estimated up to 300 more children a year could benefit from this treatment in England and Wales. Today’s announcement will see a trebling in the number of children treated each year from 125 to approximately 350 by 2015-16.

Dr Jane Collins, Chief Executive of Great Ormond Street Hospital said “We warmly welcome this announcement. We believe hundreds more children with drug resistant epilepsy will benefit from surgery and we at Great Ormond Street are more than happy to work with other centres to deliver this expansion of the service.”

Great Ormond Street Hospital’s research and medical teams have been at the forefront of innovation in the treatment of epilepsy for the past 10 years. Find out more about the hospital’s research , including medical breakthroughs and current research projects on our charity website.

But who are these patients? And why are they in hospital? We spoke to the families of three of the patients to find out.

Scarlett

Throughout the first year of her life Scarlett was a healthy baby girl. However, shortly after Mum Donna went back to work, things quickly changed: “She really looked pale and one day when I pressed her fingers and the blood didn’t come back I took her straight to A&E.

The first doctor didn’t think anything was wrong but the second doctor flew out of his chair. He said Scarlett would need a blood transfusion and shortly after I was told she had ‘cancer of the blood’ – leukaemia. “I virtually collapsed and started screaming my head off”.

Scarlett was then sent to Great Ormond Street Hospital. Donna and Scarlett’s father Jason were told she had a 20 per cent chance of survival, and that she would need a bone marrow transplant.

Scarlett was finally allowed home after six months of treatment at GOSH. “You get so close to everyone there, from doctors to cleaning staff, they were fantastic.”

Scarlett is now three years old and has made a strong recovery.

Florence

When baby Florence was born she was immediately rushed to Great Ormond Street Hospital for multiple organ failure of the heart, lungs, kidneys and bowel.

Flo had a few small operations and was put on a machine to help with her liver and kidney function. Slowly, organ by organ, she began to recover and after about two months she was able to breathe by herself.

Challenges ahead

Haematology and Oncology Consultant Antony Michalski featured in the program. He’s well aware of the difficulties that the specialist cancer team face at Great Ormond Street Hospital:

“The biggest challenge is those children for whom cure is not likely. Thankfully they are a minority and the number of children we don’t cure is getting smaller, or rather the percentage of children we don’t cure is getting smaller as time goes on, but it is always an individual tragedy, not only for them but also their families and their communities.”

Fellow consultant Dr Penelope Brock sees similar challenges: “Over the last thirty years we have made enormous headway with standard treatments – standard chemotherapy, radiotherapy, surgery – in a lot of childhood cancers and so the average cure rate is now, if you put them together, about 70 per cent.

The problem is we are left with certain very high risk tumours where we have already tried a lot of different combinations of standard treatment and we are not improving the outcome. Bringing in new treatments requires a lot of research, funding and infrastructure to get the clinical trials up and running once we know what types of drugs we want to use.”

The potential of research

Over the last ten years research has provided big developments, says Dr Michalski: “The big impact in the last ten years has been the increased understanding of what makes cancer cells act as they do. Research into molecular biology has allowed us to really open up the cancer cell and find out why it’s been told to behave in a certain way.

You know whether to cure the child with less intensity of treatment, or whether it is going to behave in a really malignant manner where you’ve got to start to consider using much more aggressive therapies. None of that would have happened without research.”

Even with such research, advances can be frustratingly slow for families, says Dr Brock: “It actually takes years to get a new treatment tried and tested in the pre-clinical setting before you can use it in a child at all. So, in this day and age when everything goes so very quickly, it’s extremely challenging for families because they simply don’t see, in a timespan that’s for them valuable and realistic, things improving. I can see things have improved if I look back thirty years, but if you have a child aged eighteen months who is sick now you’re not able to wait another five, ten, fifteen years to find the right thing for your child.

Research developments have helped to improve survival rates however, says Dr Michalski: “If you look at the history of paediatric oncology the survival for all cancers has gone up by about ten per cent per decade. There are still some diseases though where we have made no progress in forty years.

We’ve done all the studies it’s just that we don’t have the right sort of treatments for those diseases yet. Research into molecular biology is hopefully going to give us all kinds of new options and hope, and you never know this might be the way forward.”

Find out more about the BBC documentary “Great Ormond Street” on our website, where there will be more information, interviews and insight behind the scenes throughout the series. 

Donate to Great Ormond Street Hospital Children’s Charity to help us raise money to fund more research into childhood cancer. You can find out more about our history of medical breakthroughs in our Cancer Breakthrough Guide.

Last year, when he was just four years old, my son Mason became the smallest person to undergo a lung transplant in the UK.

Mason was born two weeks overdue, weighing 7lb 10oz.  Despite feeding all the time, he was struggling to absorb food. At eight months he had a number of tests at a local hospital which showed his heart was damaged on the left hand side and, on the right hand side, was squashed against his lungs.

Mason was transferred to Great Ormond Street Hospital (GOSH), where he was diagnosed with pulmonary hypertension, a rare blood vessel disorder of the lungs

After a month on the Cardiac Intensive Care Unit, Mason was discharged. Before his transplant, Mason had to wear a backpack 24 hours a day to administer his drugs. His heart was producing so much adrenalin that he wouldn’t normally sleep through the night either. Sometimes we’d still be trying to get him to bed at 1am.

A new pair of lungs

Two doctors from Great Ormond Street Hospital, Clinician Dr Veronica Kinsler (right) and plastic surgeon Mr Neil Bulstrode are experts in diagnosing and managing this rare type of birthmark and featured in the documentary, as leading players in the field.

Veronica says: “CMN are moles that are present at birth.  They can vary in size and number and the incidence of larger or multiple lesions is approximately 1 in 20,000 new births per year.

We think there are likely to be around 3,000 severely affected individuals at the moment in the UK, with lots more who are mildly affected.

“When babies are born, their parents can get understandably very worried until they know what the marks are.  In the weekly clinics we run we are able to give a diagnosis, check that the moles themselves are safe and whether the skin appearance is telling us what other things might need to be checked.

“In around 25% of patients with severe CMN, there may be related neurological problems.  We therefore regularly check childrens’ development to see whether there are any neurological signs and carry out an MRI scan of the brain to see if there are any abnormalities”

Some patients choose to have surgery to remove some of the more prominent or impacting birthmarks, often when the CMN are on the face, and surgeon Neil Bulstrode carries out between 30-40 removals each year.

Mr Neil Bulstrode operating in Columbia

Neil explains: “The majority of patients do not have surgery, because they do not need to be removed for medical reasons, and removing them leaves scars.  Sometimes the CMN lighten spontaneously so they become less noticeable, so we often advise patients and their families to wait and see what happens naturally.

“On the other hand, with Didier, the boy featured in the Channel 4 documentary, the case for removing the birthmark was incredibly strong.  It was so dense and widespread, it was significantly impacting upon his quality of life.  Being able to take my extensive experience of birthmark removals at Great Ormond Street Hospital over to Columbia and join the local team in Bogota was amazing.

It was complex surgery, involving the removal of the birthmark in its entirety and then carrying out a complicated series of skin drafts over several stages.  It’s fantastic that Didier is now back home in his village and doing well.”

Great Ormond Street Hospital and UCL Institute of Child Health is a leading centre for CMN research.  Veronica’s efforts are focused on finding the genetic causes underlying CMN and she has recently made some interesting discoveries.  This research could also help understanding of other conditions.

Veronica explains: “Not only is research into CMN important for families living with the condition, but it might also shed light on other skin conditions, such as melanoma, the fastest growing cancer in the UK which particularly affects young people. “

If a member of your family has CMN, you could contact the support group Caring Matters Now.  This is a support group for families set up by families, many of whom are GOSH patients.

The UKNSPC has played a crucial role in the development and delivery of the national blood spot screening programme that has improved the health and well-being of screened babies. 99% of babies born each year are screened as part of the programme.

Newborn blood spot screening identifies babies who may have rare but serious conditions. The UK National Screening Committee recommends that all babies are offered screening for phenylketonuria, congenital hypothyroidism, sickle cell disease, cystic fibrosis and medium-chain acyl-CoA dehydrogenase deficiency.

Most babies screened will not have any of the conditions but, for the small numbers that do, the benefits of screening are enormous. A diagnosis soon after birth can ensure access to health services and treatment as soon as possible. Early treatment can improve their health and prevent severe disability or even death. Screening takes place about a week after birth. The midwife will prick the baby’s heel using a special device to collect some drops of blood onto a card.

Of the 16,500,000 babies screened during the period 2005-2012, over one in every thousand were found to have one of the conditions.

Dr David Elliman, Strategic Director, UKNSPC, comments, “The Centre has worked very effectively alongside stakeholders to ensure the smooth introduction of national standards which enable us to measure the success of screening. Although not mandatory, all providers have worked very hard to return data and it is gratifying to see improvements in many areas.”

Caroline Bridges, parent representative, UKNSPC, adds, “If my midwife and our GP had the information and guidance twelve years ago that is available now through the UKNSPC, we would have had a completely different start to our phenylketonuria journey. Having been given the heel prick test result on a Friday we spent the weekend sick with worry about what our daughter’s condition could do to her. We weren’t given any information about phenylketonuria. Fortunately our experience is a thing of the past thanks to the work of the UKNSPC.”

The benefits of early treatment for phenylketonuria and congenital hypothyroidism are very clear – early treatment prevents severe mental and/or physical disability. Treatment and parental education has been shown to improve the health of babies with sickle cell disease, preventing infections, disability and death.

The benefits of early treatment for cystic fibrosis is thought to improve the health of babies with the condition, as well as reducing anxiety associated with diagnosis later in childhood. Early care for babies with medium-chain acyl-CoA dehydrogenase deficiency can prevent them becoming suddenly and seriously ill that can lead to death.

Find out more about the UK Newborn Screening Programme Centre [http://newbornbloodspot.screening.nhs.uk/] or discover our Bringing Research to Life website [link], which focuses on research done by Great Ormond Street Hospital.

She hopes this exciting development will pave the way for similar approaches in humans, and clinical trials of new therapies to treat degenerative and inherited retinal diseases that cause a third of cases of childhood blindness.

Transplanting photoreceptors

The research, led by Professor Robin Ali and a joint team at the UCL Institute of Ophthalmology and the UCL Institute of Child Health (ICH) (and published in Nature) suggests that transplanting photoreceptors – the light-sensitive nerve cells that line the back of the eye – could form the basis of a new treatment to restore sight in people with degenerative eye diseases.

“The type of blindness we’ve been researching is common,” says Professor Jane Sowden, who heads up the ICH team: “Retinal diseases that cause the loss of photoreceptor cells are one of the major causes of untreatable blindness, which include inherited retinal diseases that affect around 1 in 3000 people, and are responsible for around the third of cases of childhood blindness.”

“We have been aiming to develop new therapies for retinal diseases which would involve transplanting new photoreceptor cells to replace those that are lost through disease. Over the last decade we’ve been developing ways to transplant photoreceptor cells into the retina. “

Remarkable tests

“In this new study we’ve been able to show that by transplanting photoreceptors into the retina of mice who are born with a form of blindness that the new cells are able to make connections that are functional.”

Not only this, but after four to six weeks, the transplanted cells appeared to be functioning almost as well as normal photoreceptor cells.  They had also formed the vital connections needed to transmit visual information to other cells in the retina, and onwards to the brain.

Jane continues: “We performed a number of different tests, but one of the most remarkable was the fact that the treated animals were able to navigate their way through a maze, whereas the untreated animals were not, demonstrating that the cells were functioning. So the treated animals were using this visual information to modify their behaviour.”

Promise for the future

She thinks this shows exciting promise for future research and potential treatments: “What we’ve shown for the first time is that the transplantation of new photoreceptor cells can restore vision. What we hope is that it will be possible to develop similar approaches for the treatment of human blindness.

There are many steps we need to undertake before we’re in a position to do that, but based on the similarities between the mouse and the human retina we think that this may be a future treatment for currently untreatable retinal disease.”

You can view the full Nature paper here and watch a video of the mice in the maze here.

The research was funded by the Medical Research Council, the Wellcome Trust, the Royal Society, the British Retinitis Pigmentosa Society, Alcon Research Institute and The Miller’s Trust. Professor Jane Sowden is funded by Great Ormond Street Hospital Children’s Charity.