Laura has Batten disease, a very rare neurodegenerative disease. Children are born apparently healthy, develop epilepsy, and lose their sight, speech, mental and motor abilities before dying between the ages of 5-30. The condition affects approximately 200 – 250 children in the UK with at least 10 new children being diagnosed each year. Laura’s mum Ellen explains how juvenile Batten disease has changed their lives.“Laura is a bright, beautiful, kind girl who is fiercely independent. She’s everything I could ever have hoped for in a daughter.When Laura was six years old we noticed that she was holding books closer to her eyes and was edging nearer to the television. We took Laura for a check up at the opticians, which lead to a visit to our local hospital and aninitial diagnosis of bilateral macular dystrophy. We were told this would mean a slight decline in her vision which would then stabilise for many years with partial vision. We were told it might be another 10 to 20 years before Laurawould suffer any further decline. We re-organised our home and Laura’s schooling to adapt to Laura’s partial sight. But 18 months later she had no useful vision left at all. We changed everything again and started home-schooling Laura. She began achievingmore than we could have ever expected and we believed Laura would live a very fulfilling life as a blind person.One day Laura had an epileptic fit but we were told that it was not related to her vision, that it was very common for children to have one-off seizures.In the November of that year I made an appointment for Laura to see a leading consultant at Moorfields Eye Hospital. I nearly didn’t mention the epileptic seizure that Laura had suffered 18 months earlier as I had almostentirely dismissed this from my mind.At the mention of the epileptic seizure the consultant’s demeanour changed and in that instant I knew that we were facing the worst sort of news. He made an immediate appointment with the Paediatric Neurologist upstairs and Iwas offered a quiet room and a cup of tea. I could not stop the tears flowing, though I tried to shield my dismay from Laura. Laura needed a blood sample and we had a wait of six weeks before we got the result. My husband David and I travelled back alone to the hospital in January 2009 and were given the diagnosis of juvenile Batten disease. Laura was nine years old.”Family life“Life before Batten disease seems like a different world to me now. Every aspect of our family life has changed. Almost every day involves heartache of some sort. The unrelenting pain of this situation has definitely taken its toll on us. On the more positive side, we have all become much better at handling this constant pressure. One of my favourite quotes is, ‘Life shouldn’t be spent waiting for the storm to pass, but learning to dance in the rain’. We are now very good at recognising and seizing every opportunity to dance!When we explained Batten disease to Laura we described it as her ‘naughty gene’ and she knows that it is this naughty gene that has taken away her eyesight, which causes her to have epileptic seizures and makes her clumsyand forgetful.Laura is still exactly the same person. Her circumstances continue to become increasingly difficult as this cruel disease closes more and more doors for her. The exclusion she encounters every day is heart breaking. She does cry quite often, especially when facing rejection. Having said that, I could not be more proud of Laura for the way she copes. She never complains and always makes the very most of any opportunity she is given.”Living with Batten disease today“Laura now spends her week away at school in Worcester but when she is home she enjoys listening to audio books, re-enacting these books and playing cards or walking the dog. When Laura is at home I spend all my time caring for her. It’s relentless and exhausting and trying to find meaningful activities to fill Laura’s day is one of my biggest challenges.My hope is that in my lifetime, we will find a cure for Batten disease in order to save other children from suffering like my own daughter has. I am really grateful to Sparks for funding a research project that looks at therapies to treat juvenile Batten disease. This project offers real hope of moving us significantly closer to finding an effective treatment. Sparks’ research into Batten disease is inspiring and we really believe it can make a difference and provide the hope that is needed for children like Laura.”
Michelle gave birth to twins at just 24 weeks. Sadly they were born so prematurely that they died."My husband and I were trying to get pregnant for a long time. In the end, we discovered that the only way we could have a baby was through IVF. The first round didn’t work but the second time I was told that I was pregnant with twins. I’m not very tall so with twins I was huge and felt quite uncomfortable. A day before I reached 24 weeks I went into labour.I gave birth to a little boy and girl. The boy was born alive but his water had suffocated my little girl and she was stillborn. As he was under 24 weeks, the hospital was unable to resuscitate him. I only really remember bits and pieces of this, I was shell-shocked and couldn’t process anything, especially not the hospital staff asking me to sign a 'Do not resuscitate' order.We kept tryingSix months later we tried again but I didn’t get pregnant, my body had gone through so much that the doctors thought it was too distressed to take on another pregnancy. Four months later we tried again but this time I had an ectopic pregnancy and miscarried. A few months later we gave the IVF one last shot. It had cost us such a lot and we decided we couldn’t do it again.This time round I fell pregnant. I was pregnant with twins again, which terrified me in one respect but in another made me think that my twins had come back to me. Everyone around me was incredibly scared and some people couldn’t even talk to me because they didn’t know what to say, that was something that I found really difficult.Henry and Poppy arriveI went into labour while watching Desperate Housewives and Poppy and Henry were delivered by an emergency caesarean, weighing 4lb 12oz and 4lb 15oz. They were healthy and well but because they weighed less than 5lbs they were taken to the Special Care Baby Unit.Henry and Poppy are now 2-and-a-half years old and those 2-and-a-half years have been the best years of my life. But I will never forget my first twins. If I regret anything from that time, it is that I didn’t name them.I wanted to share my story with Sparks to give strength to others who have had similar experiences and to highlight the work that Sparks is doing to change the outcome for babies born prematurely. People don’t realise how many twins are born prematurely and why this happens. The work that Sparks does continuously helps parents who have had a premature baby and also works to understand why it happens and how it can be prevented. Sparks is a truly wonderful charity, devoted to children and their families."
Since 1991, Sparks has committed over £23 million for research into serious conditions affecting the health of babies, children and mums-to-be. Being born with clubfoot (congenital talipes equinovarus) means that life has not always been easy for 12-year-old Archie.
His mum, Anna, tells us their story and why there is such a need for medical research in this area…
“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 specializing in clubfoot. She diagnosed Archie’s condition immediately and he was given the right treatment at just five days old – he was tiny.
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. It can be hard to match the colors and styles between adult shoes (size seven) and children’s shoes (size four).
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.
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 favorite 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. It sounds like something out of a Dickens novel but clubfoot actually affects around 1,000 children born every year in the UK. Not so many years ago a boy like Archie would have been condemned to life in calipers 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 12 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.”
Since 1991, Sparks has committed over £22 million for research into serious conditions affecting the health of babies, children and mums-to-be. Reuben was diagnosed with childhood arthritis, also known as juvenile idiopathic arthritis (JIA), aged 11. Mum, Ingrid tells their story...“The onset of Reuben’s arthritis was easier to spot in hindsight than it was at the time. We thought swollen knees were down to sports, and irritability down to school – nothing out of the ordinary for a 10-year-old. But by August 2006, it dawned on us that something was wrong. At a ‘fun run’ Reuben finished miles behind the others, many of whom were several years younger. His swollen knees began to concern us.After fruitless visits to different GPs, we were eventually referred to a specialist orthopedic consultant. By the time the appointment arrived, Reuben was unable to get out of the bath or walk up the stairs properly.Getting a diagnosisEventually we got a diagnosis of juvenile idiopathic arthritis. At this point, his knees, ankles, toes, elbows, shoulders, fingers, wrists and jaw were all inflamed. Reuben was admitted to hospital for treatment and, once home, started life with Methotrexate, a type of cancer chemo drug which he took once a week. We were advised to give it to him on Friday evening so that he would have the weekend to recover. The drug made him throw up and feel horrible.By the summer of 2007, Reuben’s joints were still swollen and the consultant decided to try him on stronger anti-TNF drugs, an alternative to Methotrexate. The effect was instant. Within ten days, Reuben was a different person. The tiredness and tearfulness had gone and we haven’t looked back since. Some stiffness remains, and he’ll never be able to straighten his arms completely, but his joints have been free of inflammation for four years now.Reuben’s consultant Dr. Ramanan and his team in Bristol have been incredible. They were supported by Sparks to investigate Uveitis, an eye condition that can affect children with juvenile idiopathic arthritis which, if left untreated, can lead to blindness. If there is anything we can do to further support Sparks work, we will.Success as a sailorAs Reuben was no longer able to play team sports, we tried to find a form of exercise to help him rebuild his wasted muscles. Paul, his dad, is a keen sailor and persuaded Reuben to try sailing, despite his fear of water. Through it all, Reuben stuck with his sailing. Physically, it has given him the motivation to exercise but also gives him confidence. The camaraderie when they come off the water after six hours of battling wind, waves and the racecourse is a joy to behold. Reuben has been fortunate enough to continue to do well. He has won both regional and national events, and is now in the top three in his age group for sailing. We support Sparks because they fund incredible research to help change the lives of boys like Reuben. We’re really pleased to promote the wonderful work of this charity to help children overcome their health problems. Medical research is the starting point to help kids fulfill their potential in the future and shine in their chosen pursuits, just like Reuben has.”Reuben says, “I could barely walk upstairs when I first got arthritis when I was 11. If it hadn’t been for the medication I’m on now, I wouldn’t have been able to do any sport. I am now representing my country at the 2011 Laser Radial Youth World Championships in France.I know what it’s like as a kid to worry about losing your eyesight if your arthritis goes to your eyes. I know what it’s like not to be able to run around with your friends when that’s all you want to do. I will do what I can to help any charities that try to help those who are developing treatments that really work.”
Since 1991, Sparks has committed over £20 million for research into serious conditions affecting the health of babies, children and mums-to-be.
In this time Sparks funded research has contributed to many breakthroughs including ultra sound scanning technology, and led to a complete review of pain management in premature babies. We believe that an illness or physical disability should not be an obstacle to a fulfilled childhood.
Mum, Andrea tells her story…“When you are first told you are having twins it’s a shock – but then when you think you might lose them, it’s like your world comes crashing down.
At 20 weeks I was told that both my twin girls were unlikely to survive due to pregnancy complications. Both Kiki and Nico were born prematurely at 30 weeks, Kiki with clubfoot and chronic lung disease but we were just so happy to have them both with us.
When Kiki came home she had to have a new plaster cast on her foot every week for seven weeks to slowly move her foot into the right position. She now has a foot brace, and will have to sleep with it on for the next four years. Kiki’s feet are two different sizes and one calf will remain smaller where the muscles haven’t developed properly but she should crawl and walk normally. Her biggest problem will be the chronic lung disease. She really suffers if she gets a cold and we have to be extra careful with her in the winter weather.
Without medical research and knowledge gained in the past, our twins’ treatment could have been completely different. The research and trials carried out before our girls were born means that doctors had the right treatments ready to use, and now our babies can look forward to a near normal life at home with us. We are delighted to help raise funds for more vital research, without which we will never find the treatments that other families and children might need in the future.
I felt so blessed by the twins survival that I really wanted to give something back. I found out about Sparks and their research into chronic lung disease and clubfoot and I decided to take on the London Marathon in 2012. I didn’t even think about the implications of the training or the fundraising –I simply had to do it.”
Project Reports on GlobalGiving are posted directly to globalgiving.org by Project Leaders as they are completed, generally every 3-4 months. To protect the integrity of these documents, GlobalGiving does not alter them; therefore you may find some language or formatting issues.
If you donate to this project or have donated to this project, you will get an e-mail when this project posts a report. You can also subscribe for reports via e-mail without donating or by subscribing to this project's RSS feed.