“We first noticed something was wrong when Harrison was three years old and our youngest son, William, started walking. He was dashing about and Harrison, who was two years older, was still using the furniture to pull himself up.
When Harrison was four he was diagnosed with Duchenne muscular dystrophy and has been on steroids ever since.
He’s not the little boy we remember at four years old as the steroids make him quick to feel emotion and sadness. It’s also a very debilitating condition. He has a powerchair now because he now can’t bear weight and is too big to be carried by his Dad. When we got the diagnosis, we were told to go home and give our son a good life because he’d be in a wheelchair by 12 and dead by 20.
There were no trials, no drugs, nothing to improve the outcome of this condition. Research is Harrison’s only hope.”
Born 3 months prematurely, Zoe was the size of her dad’s wristwatch and weighed less than a small bag of sugar.
“They told me that giving birth to a child when I was six months pregnant does not sit well for the tiny baby” says mum Caroline. She never sucked and didn’t crawl, so we made an appointment with a specialist on the day before her second birthday and were told she had Cerebral Palsy. I visualised the worst: wheelchair, not being able to stand, walk or talk. We were devastated.”
“Zoe amazes me – she’s had a massive amount of knock-backs, but she pushes the boundaries and does as much as she can. The world is difficult for kids like Zoe, and that’s why it’s good to have Sparks there.”
Now 20, Zoe’s been in and out of hospital all of her life. Zoe says “through the years, I’ve had Botox injections and other kinds of treatments in my muscles. A few years ago I had double leg surgery and had to learn to walk again.”
In the last two years, Zoe has taken on the London and New York marathons, raising more than £250,000 for Sparks’ paediatric research, including funding a pioneering project which looks to help prevent premature labour. Since London Marathon, Zoe’s wheelchairs been redundant.
“Sparks’ research is extremely important,” says Zoe. “Not only for the children and families that are affected, but also future generations.”
“Tom was born at Hull Royal Infirmary on the 28 July 2012. He fitted into family life really well. He had no signs of any problems at all. He was a very happy, very healthy little boy. Then when he got to about six or seven months old, he started crying more. He started going into spasms and his whole body would go stiff.
We took him to the doctor and straight away he admitted Tom to the hospital. He was sent for an MRI scan and later that afternoon we were told that Tom had leukodystrophy. Three weeks later, we got the news that he had a type of leukodystrophy called Krabbe disease, which is one of the more aggressive leukodystrophies. This meant that we had a maximum of two years from that point with Tom.
When the doctor told us, I just felt numb. Going through my head was how do we tell his brothers and how do we tell our parents and our friends. To be told there was no medicine, and no way you could fight the disease – I think that was one of the most frustrating things. When you have little children, each moment is very special. But with Tom, every time he smiled we treasured it because we didn’t know if this was going to be his last smile. I actually have a picture of Tom’s last smile. I remember it because the next day he couldn’t do it.
One of the most shocking things for me was that, as the disease progressed, Tom couldn’t do anything for himself. Week by week he lost the ability to do something. On Saturday, his tummy stopped working so the doctor took us aside and told us he probably had two or three days left.
Tom liked to prove doctors wrong in everything they did. He survived for another ten days and died on 9 December 2013, age 17 months. On the one hand, it was a sense of relief that Tom wasn’t in pain any more that he wasn’t suffering but at the same time we’ve lost our son and it was devastating.
The research that Sparks is funding for Krabbe disease is incredibly important. We know the enzyme that is missing in children that causes the disease but we don’t know how to do anything about it. Finding a cure is obviously the ultimate aim but certainly the research that is being done at the moment is a big step forward.”
“Arthur was born by emergency caesarean a little bit earlier than expected because he had stopped moving. Tests showed that a clot from his kidney had travelled up into his brain and caused a stroke.
There would be days he’d constantly be sleeping or fitting. It was horrible to watch. His progress just stopped. After 18 months, none of the medication was really working and his consultants looked at alternatives. They found a pinpoint in his brain where the seizures were coming from which made him eligible for brain surgery.
We were so used to him having seizures, so when Arthur came around after his surgery we were ready to cradle him. But nothing happened! He just sat up and looked around; it was almost like a mist has lifted. He had a sparkle back in his eyes. He’s not had a seizure since that day.
We have to play each day as it comes. We don’t know from here on what’s going to happen in his future because there’s not much known about his type of epilepsy. They couldn’t tell us if he would walk or talk, or his future.
Sparks’ work is incredibly valuable and benefits a lot of children in a lot of different ways. If research like this didn’t happen then there would be no future for children like Arthur. It’s important that people support. Sparks to ensure that children are diagnosed and treated as quickly as possible to give them the best outcome in there future.”
“When I was about six years old I had really painful joints which left me being unable to walk at times. I remember going to my local hospital and being diagnosed with juvenile arthritis, it was really horrible. I was in hospital for a few weeks and felt isolated away from my friends.
My mum and dad were really shocked as arthritis is something that you think only old people get, I know my granddad has it in his fingers. You don’t think that a six year old could have it.
After being diagnosed, I was put on a number of different drugs and steroids. It wasn’t great as one of the drugs, methrotexate, used to make me sick every Friday night that I took it and I would get out of breath quite easily if running about.
However, it was during a trip to the hospital that I was told about a new drug trial for something called canakinumab. It was a bit scary at first as it was a brand new drug but the alternative was daily injections, so I was eager to try it!
The difference the drug has made to my life is amazing. Friends that I’ve made over the last few years don’t even know I’ve got arthritis as the drug manages my condition so well.
I run around every weekend playing defensive midfield for my local football team and sometimes get to Arsenal games with my dad.
One of the best things that the drug has done for me is it means I miss less school and seeing my friends. I want to go to university and work for the Metropolitan Police when I’m older so it’s great that research and this new drug has opened up these options for me.
The work that Sparks funds is so important. It’s helping children like me all over the country and I’m so grateful.”
“It was a normal birth, a normal pregnancy, the same as her sister. However as time went on, she wasn’t rolling or crawling or making any attempts to pull herself up. Eventually she was referred to a lovely lady, Jill Gordon, at the child development centre in Bury St Edmunds. Jill said that she needed to carry out further tests on Phoebe which included some bloods and an MRI scan of her brain.
On the 29th of October, Jill came to the house and said it was Krabbe disease. We were told that there was nothing we could do and that we should start cherishing memories. I didn’t want Phoebe to go into a hospice, I wanted her to be at home and have everything she needed. We started to make the most of it and tried to be normal.
We couldn’t do too much because as time went on, Phoebe started having seizures and had issues breathing. She started to lose her sight and she only knew I was in the room because she could hear me. I used to talk to her a lot and would tell others to speak to her too.
She gave me so many happy memories and the little things she did do meant such a lot. One time she did say in her own little way that she loved me.
When you are told that your child is going to die but you don’t know when it is hard to put them to bed because you think, ‘Is this the last time I will see her?’ I think it’s brilliant what Sparks are doing. I would love it if in time, this disease never existed and is like a common cold which can be treated.
Krabbe disease is a disabling condition that currently has no cure. Scientists at the University of Cambridge, led by Professor Timothy Cox, want to discover more about how the disease develops – and how they can stop its devastating progress.
The disease causes inflammation to nerve fibres in the brain and spinal cord, gradually destroying the white matter in the brain and preventing signals being sent to the nervous system. Krabbe disease is rare, affecting 1 in 100,000 births in the UK each year.
Treatment may be able to change the way the disease affects patients and should be relatively simple to administer because large biotechnology companies are working on other treatments for diseases where necroptosis is important. If successful, the project would offer a huge incentive for developing treatments for many devastating conditions affecting the nervous system.”
Shortly after she was born, they met their consultant, Professor Tulloh, who has been a big part of their lives since. At six months old, Sophie had the first part of a three-stage operation, with the next two aged one, and 16 months.
Sophie has four scars in total, the main one running from her collarbone to her stomach which her mother, Cherry, says she ‘wears as a badge of honour’.
Sophie now helps train junior doctors by going to their teaching sessions so they can work out her diagnosis. “She has what she calls her secret scar on her back which they often fail to spot and she finds it hilarious!” explains Cherry.
“We often go to these sessions, you feel so indebted that it seems like a small way of giving something back and helping families who go through it in the future.”
Isla was 11 months old when she became unwell. She began falling over and became very shaky. Her mother, Morag, also noticed that her eyes were moving in an unusual way. After many tests, she was diagnosed with Opsoclonus myoclonus syndrome (OMS) also known as dancing eye syndrome, and neuroblastoma, a rare childhood cancer.
OMS is a rare childhood neurological disorder presenting with jerky movements of the eye and body. Typically appearing when a child is around 18 months old, most affected children show persistent symptoms including speech, cognitive and behavioural problems.
There are currently only around 100 children in the UK with dancing eye syndrome and the rarity of the condition has made it difficult for clinicians to draw robust conclusions about the most effective treatment methods.
“Initially we were so relieved that the cancer was only stage one,” says Morag, “but then it gradually hit us that actually, OMS is such a cruel condition, not helped by the fact there’s so little information. Isla has been left with learning difficulties and the rarity of the condition means the school system has no idea how to help her.”
The family have moments of elation when Isla is well but this is coupled with the frequent relapses where she suffers dizziness, can’t control her eye and will shake and fall over. Isla’s illness has had a huge impact on the rest of the family. Morag had to stop work and the older children have received a lot less time and attention which has been hard.
“Sparks’ support, financially, will enable further research and hopefully a cure’ explains Morag ‘but just as important by recognising the condition Sparks can help highlight it and raise the profile of the condition which means more people will know about it and be inspired to help.”
When Sam was diagnosed with neuroblastoma at just three years old, his whole family pulled together to help him beat this aggressive childhood cancer. His mum, Beverley, tells their story:
“Sam’s ordeal started on the 30 September 2007, aged just three-years-old. I remember that day as if it were yesterday. He sat on my lap for a hug, then as he jumped down his legs went wobbly – as if he was drunk.
The next morning we went to the GP and were referred to the children’s hospital for a brain scan, which came back fine. By this time Sam had reverted back to crawling rather than walking. He had all kinds of tests over the next five months to try and get a diagnosis.”
“When the diagnosis of neuroblastoma came on 1 February 2008, I was devastated. We were told that neuroblastoma is a cancer of the nervous system that causes tumours and Sam was at stage 4 neuroblastoma, which meant it was in his bone marrow and very serious.
Sam was started on chemotherapy and our lives revolved around being in hospital for a couple of days in London then home to Sussex for a few more before repeating the cycle.
“It is so important that Sparks is raising funds to undertake medical research into this silent cancer, which is so hard to detect, diagnose, treat and overcome.”
We tried to keep life as normal as possible for Charlotte, our daughter. Friends rallied round her for sleepovers and we made sure she kept up her gymnastics. My husband, Pete, often looked at it as a hurdles race – you take it one step at a time.
Sam needed high-dose chemotherapy. This meant six weeks in an isolation ward as he was prone to infections, which could have serious repercussions for him. During this time my husband and daughter moved into my parents’ house as it seemed the easiest way of keeping Charlotte settled at home.”
Our little fighter
“Sam did get an infection and was transferred to intensive care, put on a ventilator and fed through a tube. This was the most worrying time for us during his treatment but he is a real little fighter.
We were very lucky – the chemo worked well and Sam did not need surgery to remove his primary tumour. But he did need some difficult radiotherapy, and made us so proud when having the treatment. Somehow he kept his spirits up and was an inspiration to all of the other patients around him.
Eventually, on 18 March 2009, we were told that Sam didn’t need any more treatment, just regular checkups.
“We remember going home with such big smiles that people must have thought we’d won the lottery – but this was much better.”
We stopped on the way home and bought as many bottles of champagne as we could carry for the family and friends who had supported us for the last year. We just wanted to shout it to everyone.
At the moment we consider ourselves very lucky that Sam has done so well. He is now four years off treatment and doing well.
This is why it is crucial for continued research to be done, so the success rate in treating neuroblastoma can equal that of other cancer treatments. It is so important that Sparks is raising funds to undertake medical research into this silent cancer, which is so hard to detect, diagnose, treat and overcome.
My husband Pete ran the Brighton Marathon in 2011 to help Sparks fund further research into neuroblastoma. My daughter Charlotte also ran the mini mile to show her support, and we are so proud of both of them. Now Sam is full of energy and runs everywhere, he joined the local football team last year. These days it’s us who have trouble keeping up with him.”
“I remember the moment when Archie was born, thrilled at the safe arrival of our first born child but shocked when we noticed his left foot. It was severely curved inwards at 90 degrees, or rather it pointed east rather than north; his leg badly bowed from the knee and there was no cartilage inside the heel to naturally weigh the foot down. Our instant euphoria turned to fear and dread.
We were really lucky that the hospital where Archie was born employed one of the UK’s leading Paediatric Consultants specialising in clubfoot. She diagnosed Archie’s condition immediately and he was given the right treatment at just five days old – he was tiny.
It sounds like something out of a Dickens novel but Clubfoot actually affects around 1,000 children born every year in the UK. He had to wear a plaster cast for the first 10 months of his life and learned to walk with a cast on his leg at just 13 months. This kind of perseverance and determination is a big part of Archie’s personality even now.
Since then he has had lots of different operations and treatments to get him where he is today. But he has coped with it fantastically and he is the one who has given us strength. He has one leg that is thinner and weaker than the other so he has to be careful not to damage it. Sometimes he gets embarrassed and doesn’t like to wear shorts but he won’t let it hold him back.
Shoes can be an issue for us as Archie’s feet are not even nearly the same size – one is a size four and the other is a size seven! So we end up buying two pairs of shoes.
Sometimes we get a special insole made in the hospital with a toe block at the end, rather like a blocked ballet shoe, in order to buy just one pair of size sevens and get the left shoe to fit comfortably on the smaller foot! Still it’s a small price to pay to watch him indulge and succeed in his passion for all sports.
He is incredibly determined and he won’t let clubfoot beat him.
When Archie was seven years old he had an operation to release the tendons in his left foot in order to stop his foot curving inwards and to prevent him walking on the outside of his foot only, rather than on the whole of the sole. The op was estimated to take 40 minutes however he ended up in surgery for nearly three hours. I was beside myself. I think I’ve watched too many episodes of Casualty – and was thinking the worst, like most mums do. In the end it was a success, but months of physiotherapy followed. I used to bribe Archie with sushi, his favourite food, to encourage him to cooperate at his physio appointments – that and missing a bit of school always did the trick.
I’m so proud of Archie’s achievements, he is incredibly determined and he won’t let clubfoot beat him. He does nearly every sport going from rugby to skiing, even though he needs specially-made ski boots to compensate for the difference in the size of his feet.
Clubfoot is something people don’t know much about and we want to give it more exposure so people can understand what it is, and what advances need to be made.
Not so many years ago a boy like Archie would have been condemned to life in callipers and the cruel social exclusion that would have gone with it.
Now treatments can be improved even further. They have already made developments in the 16 years since Archie was born and research plays a huge role in this. I’m also aware that there is virtually no government funding into lower limb disorder research and that it’s largely down to charities like Sparks, who funded one of the world’s largest studies into the disorder.”
Emma and Ted’s story
Emma, whose son Ted has full-body cerebral palsy, shares their story:
Ted was our first baby (we also have an 18 month old daughter, Dilly). I had a problem free, full-term pregnancy. But Ted got into distress at birth and experienced a prolonged period of oxygen deprivation.
He was transferred from Kings to St Thomas’ for cooling treatment which is thought to limit brain damage. He spent about four weeks in various special care rooms.
Ted was three months old when the consultant gave us the diagnosis of full-body cerebral palsy. My husband Rik and I were devastated. But also felt a sense of relief because at least we now knew what we were dealing with and we could start figuring out what it meant.
In the beginning, Ted was very irritable and cried all the time. He is four and a half years old now and so much happier and settled. He has a lovely personality and sense of humour so we have good fun with him.
He struggles to control his body and experiences severe muscle spasms. He is in a wheelchair and struggles to control his body so he is 100% reliant on others. We do our best to have as normal a life as possible. We take Ted to festivals. Twice a week he goes to both a main stream and a special needs nursery and he loves being out and about in town seeing people. He likes swimming and absolutely loves the supermarket, he whoops for joy when we turn into Waitrose car park!
Having a disabled child means that even simple activities can be difficult so the right equipment is key. Ted can’t speak so we spend time showing him how to communicate using eye-gaze technology (you move the cursor with your eyes). And we have been lucky to be involved in Dr Tim Adlam’s chair trial. It’s brilliant because it is designed to move with Ted. It supports him and works with him instead of working against him. This kind of equipment is revolutionary and means Ted can do normal everyday things and we are all able to have as stress-free a life as possible.
Mum of three, Helen, shares how she supports daughter, Ella, to manage the effects of spina bifida, and how the condition impacts the whole family.
“There is a history of spina bifida in our family so I took a high dose of folic acid during my pregnancy with Ella. My brother was severely affected by the condition and sadly passed away aged just 22.
I had a smooth pregnancy with Ella, although late scans showed what we were told was a placental cyst. However, when Ella was born, we could see straight away that she had an open hole at the base of her spine, a clear indication of spina bifida.
Her hole was wrapped in cling film to prevent infection and she was whisked straight up to intensive care. After two nights we were transferred to Great Ormond Street Hospital (GOSH) where Ella could be looked after by a specialist team. Just minutes after arriving, Ella had a life-saving operation to close up the hole.
A hidden disability
Ella has the most severe form of spina bifida, but in many ways it manifests itself as a hidden disability as it’s hard to see the impact it has on her daily life.
Her hole is located at the bottom of her spine, so the damage is around the nerves responsible for her bowel and bladder. Ella has a neuropathic bladder so without medical intervention, it constantly tremors, leaks and never fully empties. At six months old, in order to try and reduce the number of infections, we started catheterising Ella five times a day and giving her daily antibiotics.
“It was heartbreaking to see her like that and be unable to help”
We were aware that the spina bifida had affected Ella’s bowel when she was just a few months old. Ella would scream in pain when passing stools. We tried different medications to regulate her bowel movements but they didn’t work. Aged four, it was decided that the best course of action for Ella was an Antegrade Colonic Enema (ACE), which is designed to support bowel control.
“As one problem seemed to be resolved, another appeared”
The surgeon created a stoma site, a small opening on the surface of her abdomen, by using her appendix to form a channel from her large intestine to the outside of her stomach. The stoma site was used daily to try and evacuate faeces, known as ‘the flush’ and could take up to two hours. Unfortunately, Ella experienced incredible complications with her ACE including infections and significant pain.
After a year, it was decided a Mic Key button, which acts as a permanent lid over the stoma site, should be fitted to try and reduce the stoma infections. A feeding tube can be clicked in and medicine administered that way. During the procedure to fit the button, it was found that Ella’s ACE channel was twisted so the Mic Key button couldn’t be put in place. This was devastating for all of us, particularly Ella, who was experiencing huge discomfort.
A few weeks later, Ella had surgery to fix her twisted channel and fit the Mic Key button. Despite the surgery being successful, her flush still wasn’t working, leaving her incontinent and meaning she was spending hours on the loo at home and at school.
We were finding it hard to cope and losing hope that something could be done. Three months after surgery, tests that revealed Ella’s bowel was swollen. Her medication was adjusted and we were advised to do the flush every other day to try and regulate her movements. We were told it could take a year for her bowel to get back to normal.
As one problem seemed to be resolved, though, another appeared. Ella’s bladder had always been reasonably under control with medical help but Ella started to experience leaking in between her catheters. To try and stop this, Ella took medication to calm her bladder but the particular one she used stopped being made when she was around six.
We tried alternative ones, but often with awful side effects. Eventually, it was decided that trialling botox injections to paralyse Ella’s bladder would be the best option. Thankfully, the botox worked and she has injections every nine months.
Currently, Ella’s medical routine takes around two hours a day, including six catheters and one ACE washout. She is still incontinent.
When Ella was just three days old, we were told there was a chance she may never walk. After many physiotherapy and hydrotherapy sessions, she took her first steps aged 18 months – an incredible moment for us all.
“Ella is incredibly independent and a real inspiration”
Then, in summer 2017, aged eight, Ella took on the Superhero Triathlon for Sparks. Despite being told she may never walk, let alone ride a bike or run, she completed the 200 metre swim, 3 km cycle and 1km run in under 45 minutes! She raised over £1,000 for children’s medical research. It was an empowering day and instilled a determination in Ella to continue to live her life to the full. We are so proud of her!
What we’re doing to help
Sparks has been funding pioneering research into neural tube defects like spina bifida for the last 15 years. In 2016, Sparks-funded researchers Professor Andy Copp and Professor Nick Greene reported that combining Vitamin B8 with folic acid could prevent spina bifida.
As part of the joint national call with Great Ormond Street Hospital Children’s Charity, we’ve just agreed to fund their new study, which looks to understand the causes of a common brain defect associated with spina bifida and determine if fetal surgery for spina bifida could help reduce its severity.
Sparks and Great Ormond Street Hospital supporter Kerry describes the remarkable journey of her daughter Megan and her reason for running the London Marathon.
“On 3 September 1991, our daughter Megan was born. Because of my pre-eclampsia, the doctors decided she would be delivered by Caesarean section – she was 10 weeks early. Megan was transferred to a special baby care unit.
On 6 September, Megan’s lungs collapsed and she was placed on a ventilator. It was during this time that Megan had a brain haemorrhage and over the next month we could only watch as her head grew bigger and bigger.
Doctors diagnosed her with a condition called hydrocephalus and she needed an immediate operation to have a shunt – a pipe with a pressure valve that regulates the cerebrospinal fluids (CSFs) in the body – inserted into the first and second ventricles of her brain.
However, there was a complication: her protein levels were too high and the doctors were unable to go ahead with the operation until her protein levels dropped. It would be five weeks before the operation was possible, by which time Megan was very poorly.
On 3 November, Megan was transferred to Great Ormond Street Hospital to have an MRI scan ready for her operation the following day. On 4 November Megan had her shunt inserted.
Megan eventually came home exactly six months after she was born; it was a day we had thought we would never see.
Fast-forward to 1995: Megan began to feel ill and was taken to hospital. Tests confirmed that Megan had meningococcal septicaemia meningitis. She would spend the next three weeks in hospital. Somehow she pulled through.
Megan was doing well and started at primary school. However, at the end of her first summer term, Megan collapsed at school and was rushed to Hospital. An MRI scan showed that a cyst the size of a golf ball had grown in the fourth ventricle of her brain and she needed urgent surgery to have a second shunt inserted.
This time, Megan’s recovery was slow and she remained in hospital for weeks. It took months for her balance to return and for her to be able to sit up and walk unaided. Through all this time the neurology team at GOSH were there to support Megan and us.
Fast-forward to the present day: Megan is now in the final year of her Post Digital Production TV Degree. Once again, Megan has a challenge in front of her: this time it is to complete her final year projects while undergoing further surgery to have another shunt replacement.
Clara, 15, was diagnosed with cystic fibrosis when she was a few months old. Since then, her life has been full of hospital visits, medication and physiotherapy. The ambitious teen isn’t letting her condition get in her way though. Clara tells Sparks about life with cystic fibrosis.
“When I was a week old, my parents started noticing that I was losing weight. I threw up my food, I coughed all the time and I had very raw skin. After numerous hospital visits and seeing different doctors, we eventually went to a dermatologist. He asked my mum if, when she kissed me, my skin tasted salty. It did. That’s when the doctor suggested I was tested for cystic fibrosis. The tests came back positive and I was immediately put on medication.
My parents hadn’t heard of cystic fibrosis before. When the dermatologist originally suggested that could possibly be what I was suffering from, Mum did some research into the condition so I don’t think she was quite as shocked but after the diagnosis, I think my parents were incredibly upset. The doctors refer to it just as ‘CF’ but you won’t hear Mum calling it that. It’s so deeply affecting that she doesn’t want to reduce it to something so little.
I have a little sister, Verity, who doesn’t have it but she does carry the gene. Verity is amazing, we get on really well. She’s so calm about it all and I know sometimes the cystic fibrosis gets on top of her because I have to have a lot of treatment.
At the moment, my routine is particularly heavy. I think I probably spend about an hour of my day taking medication and another hour for physio. By the time breakfast has finished, I’ve already taken about 12 pills. I also have to take medication with everything I eat so that I ingest the fat otherwise my body doesn’t absorb it. I need to do 25 minutes of physiotherapy in the morning and evening.
I have to go to the hospital every three months for a check up. Before I stared on a clinical trial drug called Orkambi, I had to go every month for tests and to check my liver function. It’s been two years since I was hospitalized for intravenous treatments. The treatment lasts for about two weeks. I had to have a bronchoscopy – where the doctor examines your airways – when I went in. When you wake up, it feels like someone has knocked you out with a brick and punched you in the ribs. That is the worse feeling I’ve ever had. But I haven’t been hospitalized really since I started taking Orkambi. It’s really changed my life. My lung function has gone way up. I barely cough and I do a lot of running which I want to carry on. Before taking the medication, I could barely keep up when we went running at school. I’d always be in the last five, it was just so rubbish. Now I’m coming second in these same runs! I’ve also hit a 5 minute mile which I’m so pleased with.
Sometimes I feel that it’s unfair that I have cystic fibrosis. I do a lot of singing and one of the antibiotics I take can make my voice sound quite croaky so that’s not nice for me. I had a concert and I couldn’t sing properly in that. I’ve been quite down especially because the medication takes a long time and is very draining. Sometimes it gets on top of me and I get sad. But there is just no point feeling like that. I have to get on with it like I always have. I don’t know what its like to not have cystic fibrosis and not take medication.
Cystic fibrosis has made me a lot stronger and more determined than I would’ve been otherwise. I think people with challenges like cystic fibrosis come out stronger than others because they’ve gone through things that other people can’t imagine. You’ll always be the stronger person, even when you feel vulnerable. I think that is incredibly important to remember.
I want to go to Oxford University and study English or languages. I know it’s quite ambitious but I would like to do something important, like to be a journalist or a writer so that people listen to you and you can have an impact.
As a society, I think we need to protect the vulnerable. If we don’t do that, then we’re letting people down. I believe we have to help other people that are less lucky than you are. We need to just focus in on the things that matter and medical research funding especially for children, is one of the most important things I can think of.
I’d like to thank Sparks’ supporters so much! Supporting the charity is amazing and so many more people should. It’s so kind and generous and we need more people like that in the world.’
Eczema is one of the commonest childhood conditions. It is a long-term condition but one that will often improve over time for a lot of children. However, for Evie and her family it is a much more serious problem and a daily battle to keep it under control and alleviate her symptoms. Evie’s mum Sarah tells us her story:
Evie was born nine weeks prematurely weighing just 2lbs 5oz and spent the first two months of her life in neonatal intensive care. Sadly her twin brother, Arthur, didn’t survive the birth. While she was in hospital, there were no signs that she had problems with her breathing or her skin. It wasn’t until we were able to bring her home when she was a few months old that she started to develop eczema and it escalated very quickly.
When she was about six months old we started using emollients, a daily moisturising treatment, on her though it didn’t seem to have much effect. We also restricted her diet to see if that would help alleviate the symptoms.
When she was a year old she had her first anaphylactic reaction. Her older sister Maisie was eating peanut butter, something Evie had never had, and suddenly Evie’s eyes started to swell shut. We rushed her to A&E and it was only en route that I made the connection between the reaction and the peanut butter. It was very frightening, her eyes were so swollen she couldn’t see. Evie had blood tests which confirmed that she had a peanut and egg allergy so we removed those from her diet. We really hoped this might improve her eczema but it just carried on getting progressively worse.
By the time she was two she was often in wet wraps day and night. Then we noticed that she was developing hives all over body every morning after breakfast. We decided to take her for skin prick tests which showed that she was also allergic to wheat and diary. Once that was out of her diet, her eczema did finally get better. That was such a relief because the eczema was so horrific; really angry, red and itchy.
Research is so important because otherwise you don’t move anywhere. On a very basic level it also gives you hope
Before we knew what she was allergic to, the thing my husband and I found soul destroying was that we simply didn’t know what was causing the eczema and we couldn’t stop it. We felt helpless. We always found the eczema the most difficult, physically and emotionally, of all her conditions. I could see her scratching all the time and she’d bleed. We were constantly trying to stop the itching because it was so uncomfortable for her and it stopped her sleeping. At night I’d sew gloves onto her bandages as otherwise she’d take them off to scratch.
In the end it was so bad she had to wear this outfit to nursery too. She hated it. It made her different from the other children. I remember crying because I’d take her clothes off and she looked like she’d been burnt.
I think Evie was 4 when she realised she was different to other children. It was a big decision to make her aware that she had these life threatening allergies. It was important though because she was going to school and they had to be hypersensitive to the potential dangers. She had to understand she couldn’t share food with other children. That was hard because it’s just another indication that she’s different and when you’re young you don’t want to be singled out.
Evie has four Epipens at school at all times and if there’s a school trip a teacher will take it. We are starting to teach her how to use it herself to prepare her as she gets older and moves to secondary school. We are also teaching Maisie as a precaution, she’ll be able to recognise the anaphylaxis and use the epipen confidently.
I worry about Evie’s confidence and how this holds her back socially. We have to be so careful and be with her so much. Even now she’s nine we still smother her in emollient cream. Every morning she has the preventer asthma inhaler and puts her creams on. In the evenings she baths in Oilatum and we put more emollient cream on her and then a special steroid cream on her hands. It’s quite a routine.
We still see Professor Mukhopadhyay but I also take Evie to see an allergist in Southampton because we have a better chance of getting onto some clinical trials this way and I’m really keen this happens. If we don’t, I can’t see an end to this. The only option Evie has to live the best life possible is to avoid things that cause her allergies but that’s a huge amount of things to be avoiding day in, day out. It’ll be very restricting. Research is so important because otherwise you don’t move anywhere. On a very basic level it also gives you hope; you just want it to succeed because it’s the only option for progression and a better future.
Zach was born a perfectly healthy baby in the summer of 2013. At the beginning of 2015, Zach was diagnosed with Krabbe disease, one of over 4,000 rare childhood diseases that devastate families.
“Zach was a really chilled, happy baby,” say Lindsey and Ben, Zach’s mum and dad.
“He was full of life and energy, had reached all his milestones and had developed normally. He was walking, talking. He could feed himself with a spoon and fork.”
“But within the space of a week, Zach went from walking round the furniture and crawling, to not doing anything at all. He lost all the abilities to move around. He just sat in one spot. And that’s when we knew that there was something seriously wrong.”
“It all happened so quickly. Six weeks after his first symptom he had a feeding tube fitted up his nose because he couldn’t feed properly any more.”
Getting a diagnosis was difficult but on Christmas Eve 2014 when Zach was 17 months, he had an MRI scan, and weeks later it was confirmed he had Krabbe’s.
Krabbe’s is a devastating and cruel disease. Symptoms appear like a bolt out of the blue. Children have seizures, lose sight and hearing, and suffer relentless loss of all faculties, often choking and developing an unexplained fever. Untreated, Krabbe’s is a painful and fatal condition, and most children will die within two years.
“I had never heard of Krabbe’s until that day. We didn’t take it all in. We thought, ‘it’s alright, he’ll be alright, it’ll go away, he’ll get over it’. You don’t ever think that you’re going to get told that your son is never going to be fixed or cured.”
“At the time of the MRI scan, Zach couldn’t move any more, but he still had his personality, he was still him. He changed so dramatically.
“Before Zach got poorly, our life wasn’t perfect, but it was great. We used to be such an active family. Zach went swimming, to playgroups 3 times a week, he’d love going to the deer park and feeding the deers. After he got ill, even just going out for a walk was a task. We had to take suction medicines. Oxygen. Machines that we’d never even heard of or knew existed before. Zach needed chest physio. 12 medicines a day. Sedating if he’s had a seizure.”
“ Before Zach was poorly, we were parents but we became nurses, a care-giver. We tried our best to keep things normal, to be upbeat, but it was difficult.”
“You hear about rare diseases, but you don’t pay too much attention because it’s not personal to you. Until it happens to you. Had there been more research about Krabbe’s, things might have been different for Zach,” says Lindsey.
Tragically, Zach passed away in November 2015.
Eilish’s mum, Kirsten, tells us about the difficulty in getting a diagnosis for Krabbe disease and the tragic loss of her daughter
‘Eilish was always a sicky baby and at 5 weeks old she was diagnosed with reflux. We weren’t worried as one of her brothers had had it too, however the medicines that worked for him seemed to have little effect on Eilish. By the time she was 12 weeks old, we got a prescription for stronger medication from the GP, again, this did little to help her.
She continued to develop but she struggled to put on weight because she was vomiting on average 4 to 5 times a day. She was stiff and her fists were always clenched. Her head control was good though and she had a lovely smile, she’d even started to laugh.
Getting a diagnosis
After about four months, when Eilish still wasn’t getting better, our GP referred us to a paediatrician and we were given an appointment on the 17th March 2014. We stayed overnight but she was a puzzle because she was feeding ok and not looking malnourished. We had another appointment 2 weeks later for a review. During these 2 weeks Eilish worsened. I couldn’t get her to feed and when I did, she vomited. We went back to see the paediatrician on the 2nd April and she was admitted. They inserted a feeding tube and treated her for severe reflux. 5 days later the consultant saw her and she was having an especially bad day. He decided to order an MRI scan and another scan to monitor her brainwaves. These took place on Wednesday 9th April and by Friday the 11th we were told there were some abnormalities on her MRI scan but the specialists couldn’t agree on what they were seeing. On Monday 14th April we saw a neurologist and a metabolic specialist. That evening we were told Eilish had an incurable enzyme deficiency. They weren’t sure which one but they would do further tests. On Thursday 17th April – a month after our first referral – we were told she had Krabbe Disease.
Although there was a sense of relief that we knew what was wrong with Eilish, and we could now help stop the pain she was in, we were totally devastated and heartbroken. Nothing can prepare you for being told that your child has an incurable, rare disease.
Living with Krabbe Disease
The disease put a lot of stress on us. We were fortunate we had family around to help care for our two boys. My mum moved in so that the boys were settled in their own house although they still missed us and their sister. My husband’s work gave him indefinite leave from April until the end of September which took a lot of pressure off us.
In incredibly rare diseases you feel so alone at first then sadly discover many have trodden the path before you. This doesn’t make it easier but it does provide you with some support. Whilst finding out more won’t bring Eilish back if the research that Sparks is funding helps even one family then it is absolutely the best value.’