Sam’s Story
Three-year-old Sam Murray has just been on his first holiday to Cornwall. He watched in awe as waves crashed against the rocks, loved building sandcastles with his dad and saw lifeboats setting off on a rescue. It sounds like just a normal family holiday, but for Sam and his parents Harriette and Graham, it was an extraordinary holiday and one they didn’t think they would be able to go on.
For Sam has a rare and life-limiting genetic condition, which causes damage to the muscles throughout the body. And this holiday was a respite break arranged by The Sandcastle Trust for families living with a rare genetic condition.
Harriette and Graham drove the six hours from their home in Kidderminster, Worcestershire, with the car full of all the equipment needed to look after Sam, including his wheelchair, night-time ventilator, peg
feeding equipment, medication, and rescue oxygen. It was the first time the couple felt confident enough taking Sam away for a week, due to his complex medical needs.
Harriette says: “Sam loved it. He has never really seen the sea before, and he had never been to a beach. The weather was rough, and he loved watching the waves crashing against the rocks. He just wanted to stare at the sea for an hour. He thought it was brilliant. For us the trip allowed us to have that break from reality and spend quality time together.”
In February 2021, aged 13 months, Sam was diagnosed with infantile-onset Pompe Disease, and was found to be in cardiac and respiratory failure. Doctors told parents Harriette Cooper, 30, and Graham Murray, 40, they didn’t think Sam would survive.
“It was heart-breaking, and our lives started unravelling before us,” Harriette recalls. “You never think this will happen to you. We first noticed at around seven months that Sam’s arms were floppy. But because of the pandemic there were no baby weigh-ins or health visitor appointments. We asked the health visitor to see him when he was ten months old and then he was referred to hospital.
“The silver lining was that the pandemic lockdown had kept him safe and away from germs, but when we got the diagnosis we couldn’t even hug our families. It made it tremendously difficult.”
Pompe disease is a metabolic genetic condition in which complex sugar called glycogen builds up in the body’s cells, as a result of a deficiency in an enzyme that breaks down the sugar. This build-up of glycogen affects all muscles of the body, including the heart and lungs. Without treatment the prognosis is bleak.
Luckily Sam was approved for a new experimental treatment of enzyme therapy which started as a trial before being licensed in August 2022. After four months in hospital and two weeks in a hospice to support the couple in caring for Sam at home, he was able to go home. His parents were trained to give the enzyme replacement therapy infusion, every fortnight, at home.
Since then Sam has defied the doctors’ expectations. Sam has regained some movement in his arms and upper body and improved his core strength, so he can sit with support and play with toys, greatly improving his quality of life. He has many complex medical needs; he is fed through a gastrostomy tube and he needs to use a wheelchair. He sleeps with a ventilator as he can stop breathing during the night and has an overnight carer five nights a week. However, he no longer needs 24-hour oxygen, which is a real breakthrough.
Harriette says: “Sam’s condition will always be life-limiting, but doctors are thrilled with how he is doing. Sam attends an early year’s nursery and a special needs school for one day a week and is able to play with toys – he especially loves trains and Toy Story. He is non-verbal but he babbles and uses Makaton. You can definitely tell what he wants!”
With Sam no longer needing full-time oxygen, the couple started to think about the possibility of a holiday together and applied for the Sandcastle Trust’s programme Sandcastle Memories, which offers respite for families living with a rare genetic condition, in the form of UK breaks and days out.
The Sandcastle Trust wanted to help Harriette and Graham to create special memories with Sam and were able to arrange a week’s stay at Waves End cottage in Polzeath, Cornwall.
Harriette used to go to Cornwall every year on family holidays and had many happy memories of her trips as well as one very difficult memory.
“The last time we went to Cornwall was six years ago,” she explains. “We suffered a miscarriage there and it was a bit of a traumatic experience. We kept a bit of Cornwall in our hearts, so it was emotional. I was nervous to take Sam down there, with his medical needs, but it was nice we could share Cornwall with him and heal.”
Sam had a fantastic time on his first proper holiday and the whole family had a chance to relax and recharge.
Harriette says: “He was able to build sandcastles with his dad and we carried him into the sea to get his feet wet. When we got home, we filled a sandpit as he wanted to play with the sand. We walked coastal paths, visited Polzeath, we went to the Eden project which was amazing and so sensory and accessible for Sam. We all thought it was fantastic and Sam loved the waterfall. We went to an accessible, sensory orchard and playground at Pentire Point National Trust and on Mother’s Day we went for a cream tea. Then in Padstow Sam loved seeing the boats in the harbour and saw lifeboats launching. It was Graham’s 40th birthday just before we went so it was great to mark that too.”
“It was lovely to get away and do something just for us,” Harriette adds. “It is a full-time job and exhausting looking after a child with medically complex needs. In Cornwall we could switch off from the day to day, press pause and allow us to be a normal family. We are so grateful to the Sandcastle Trust.”
Eddie’s Story
Eddie Braun is a loud, sometimes cheeky four-year-old who is determined to let his mum know exactly what he wants.
His default setting is happiness, despite the numerous challenges he faces. He absolutely loves cycling and swimming.
Eddie has an ultra-rare genetic condition caused by the genetic mutation COL4A2 which is linked to small blood vessel disease. For Eddie this means he had at least one bleed on the brain before he was even born, resulting in brain damage. This in turn has meant he is registered as severely sight impaired, he has cerebral palsy, global developmental delay and complex epilepsy.
The Sandcastle Trust awarded the Braun family a holiday at Bluestone, a holiday park, in Pembrokeshire, Wales, for a week.
Eddie’s mum, Ilmarie, says: “It was one of the first times we have been away just the four of us – just us as a family. I’m sure without The Sandcastle Trust we would never have done it.
“We wouldn’t have been able to budget for it. Financially it is difficult because I’m not working. And also because increasingly there aren’t many things we can do easily as a family.
“I have to be available to take care of Eddie and to get him to all of his appointments. In one week alone he had nine appointments with the NHS.
“There have been periods where Eddie has had 10 clusters of spasms (seizures) a day. At the moment I can’t work because if Eddie has a bad run of seizures, he needs to go to hospital. It took us a long time but thankfully we have got better seizure control now, although he still has seizures every day.”
Ilmarie, 42, explains: “It was really easy to apply to the Sandcastle Trust and they were so lovely to deal with. The whole process removed any stress – which is brilliant when you are looking after a profoundly disabled child.”
Ilmarie, who is married to Alex Braun, also 42, a builder, lives in Chester with Eddie and his older brother, Thomas, eight years old.
She continues: “What was so special about the week The Sandcastle Trust gave us was our two sons got to share a bedroom and enjoy activities together.
“Thomas absolutely adores Eddie, but most of the time in order for him to enjoy anything resembling what other eight-year-olds do, one of us has to take him away and the other parent stays with Eddie. Our little family is split in two most of the time as a result.
“Thomas’s whole life has been impacted since Eddie was born. It is very hard for the siblings of disabled children.
“We never thought we’d be able to have the boys sharing a room and just to be able to go out on the bikes together in a safe environment and head to the swimming pool – sometimes more than once a day was incredible.”
Eddie is profoundly disabled and while he can feed himself, his food needs to be cut up for him.
Ilmarie continues: “Bluestone is so well organized we even managed to eat out twice. It was such a treat not to have to think about the shopping, cooking and clearing up.
“The trip was perfect. It allowed us to reconnect as a family and have a little bit of a breather too.
“It has given Alex and I the confidence to feel we could do the same kind of trip again.
“For any other families out there who are in desperate need of a break. Have a look at The Sandcastle Trust. They helped us do the normal things that other families do and gave us a chance to spend quality time together again.”
Kirsten’s story
It’s not just families with young children to benefit from The Sandcastle Trust’s accessible holiday breaks. Families with adult children with genetic conditions can also apply to our Sandcastle Memories programme, and benefit from a day out with their family, or a fully accessible UK holiday.
These respite breaks are invaluable for families such as the Hardmans – who are caring full time for their daughter Kirsten, 27, who has a genetic condition and lives with complex needs and mobility issues. Kirsten needs round the clock care as she can injure herself, she is a wheelchair user, has developmental delay, scoliosis, autism, is doubly incontinent and is non-verbal.
Kirsten was born in South Africa, and at birth had struggled to feed and ‘failed to thrive’. The family moved to Liverpool when Kirsten was 15 and she settled into a new school. Despite genetic testing in South Africa, the family did not have a diagnosis. Then in 2019, a breakthrough came from the Deciphering Developmental Disorders (DDD) project – a diagnosis of Shaaf-Yang Syndrome (SYS), a rare genetic condition which shares similarities with Prader Willi Syndrome. Children with SYS can have low muscle tone, feeding difficulties, developmental delay and autism. They can also have weight issues and feel hungry all the time.
Jane Hardman, 54, is a full-time carer for Kirsten. Jane’s husband Bruce, 53, is a logistics driver and their eldest daughter Caitlyn, 29, lives nearby.
“It is a rare condition and there are only about 3000 cases of SYS worldwide,” Jane explains. “When Kirsten was born, she had difficulty feeding and she was tube fed for the first six months of her life. She stopped breathing a lot. She couldn’t open her hands; she had club foot and a bad squint in her eye that was operated on. The doctors said she wouldn’t walk and gave her six months to live. She actually did walk, aged three-and-a-half.
“It was costing everything we had to stay in South Africa and pay for medical bills. One doctor said, ‘I’m wasting your money.’ There was nothing they could do and didn’t know what the cause was. We came back to the UK – we had family here – and joined the new DDD study. Kirsten, Bruce and I had swabs taken and they managed to find exactly what it was, which was amazing. It really helps with understanding her needs.”
Kirsten attends a day centre two days a week, but an assistant is only available to attend with Kirsten on one day, so Jane goes with her on the other day. Kirsten uses a wheelchair as she can’t walk for long distances due to low muscle tone and scoliosis. She needs incontinence pads and also has sleep apnoea and can stop breathing at night. She is non-verbal – communication is difficult as she won’t use online communication apps, but she understands everything. She likes Lego, she’s now working on 8+ years, jigsaws and computers, but her favourite thing to do is swim.
Jane says: “I look after Kirsten full-time and we haven’t had a holiday for a long while. During the pandemic, the day centres were closed, so Kirsten was at home full time. It was one of our social workers who asked if I need a break, so I applied to The Sandcastle Trust.
“Kirsten loves the pool, she’ll be in it for four hours and she’s happy as anything. She loves to go anywhere with a pool so we were thrilled to get the Skegness caravan break with a pool on site!”
The Hardmans stayed at The Sandcastle Trust’s fully adapted static caravan in Skegness this summer (2023) and were joined by Kirsten’s sister Caitlyn to help out.
Jane explains: “Kirsten loves caravans, she doesn’t want to go on any other holidays. She loves the penny arcades, the parks and the swimming pool. She slept with me so I can watch her and the bed was so comfortable. We get nervous in the night as not only does she have sleep apnoea, but she has been known to get up to mischief, she flooded my bedroom at home once.
“Every day we went out and fed the ducks and Kirsten would go swimming in the afternoon and then go to the play area or the beach front. One day we went to the Seal sanctuary, which was great fun, she loved getting up close to the seals. They jumped up and she got nice and wet – she loved that!”
For the Hardman family, the Skegness holiday gave them precious family time together with memories to cherish.
Jane says: “It was just great to make memories with Kirsten. It makes your day to see the smile on her face. She was forgotten about in South Africa and now she lives a life and she’s happy. It’s all I wanted for her.”
Maddison’s Story
Feisty, confident Maddison Sherwood dreams of being an actress.
The ten-year-old student goes to drama school in her spare time and loves nothing more than singing and dancing.
Maddison has the rare genetic disorder Spinal Muscular Atrophy with Respiratory Distress (SMARD) which means she uses a ventilator and tracheotomy to help her breathe and a wheelchair to get around. Her parents have become 24-hour carers.
The Sandcastle Trust took great pleasure in organising and funding a trip for Maddison’s family to London’s West End to see The Lion King.
Maddison’s mum Lidia, 32, says: “It was the most wonderful couple of days which we will always remember. It was time away when could we feel like a “normal” family – we could forget the medical side of our lives and the constant fighting for Maddison.
“We felt so grateful the children could experience London and have fun.”
Lidia explains: “After I contacted the Sandcastle Trust they organised our accessible hotel next to the theatre, tickets for the show and made sure both were accessible for Maddison’s wheelchair. They paid for an overnight carer so Maddison’s dad and I could sleep and even ensured we could park our car near the hotel.
“It was just brilliant. Maddison absolutely loved the show.”
Maddison is Lidia and her husband Jamie’s fourth child. Their other children are Lacey, 17, Harley, 14, and Jayden, 11.
Lidia says: “She wasn’t planned but she was very much wanted. It wasn’t until she was six months old that we realised something was wrong. She just caught a cold but was having real difficulty breathing. We took her to Queen’s Hospital in Nottingham and didn’t come out for 11 months.
“She went into respiratory distress and her heart rate was over 200 bpm. That was February 2009, our lives were never going to be the same again.”
Doctors tested Maddison for different disorders and were about to leave her undiagnosed when someone suggested testing for SMARD. Lidia says: “They told us what it was and said she wouldn’t live past two, until then she would just be a pair of eyes. At 2am they suggested we turn off the ventilator that was keeping Maddison alive.
“But we felt that where there was life there was hope. We kept fighting for her.”
Now when those doctors see Maddison they tell Lidia how glad they are the couple made that decision. Maddison goes to mainstream school and is about to take her SATs, she even presents her own YouTube videos.
Life has not been easy.
Lidia recalls: “We spent so much time in hospital I missed lots of Jayden’s milestones, like him taking his first steps. He still suffers from separation anxiety. People don’t think of the impact on siblings.
“The hospital would not let Maddison home until we were trained in her care. Jamie had to give up his job as a builder to look after her with me.”
Lidia adds: “Money is always tight and the other three children have had to become young carers. They are fantastic around Maddison but they often have to come second or miss out on things like football training. We can never go to parents evening together let alone go for a night out. These are such simple things other people take for granted.
“We get some help but it is not very consistent, paid carers often let us down.
“To be able to travel to London and forget all of that is something we will remember forever.”
Felix’s Story
“In 2012 our third son Felix was born. At only 2 weeks old it became apparent that he was struggling to thrive and we were consequently referred to a myriad of specialist healthcare services within the NHS. All of them superbly caring and supportive. Felix remained somewhat of an enigma to all involved in his care and he had become entirely dependent on nasal (NG) tube feeding at a very early stage. In retrospect the constant demands of that time were exhausting even punishing given that we needed to continue as parents to our other two elder boys and as a couple to support each other.
It took until he was almost 18 months old to reach a diagnosis via genetic sequencing. His condition CFC Syndrome is so rare that only approximately 500 cases have been formally diagnosed to date across the whole world.
His diagnosis left us with a huge sense of sadness and isolation, not knowing his life expectancy, or what kind of life he would lead. A Facebook group for families dealing with CFC syndrome has been pivotal in our coping strategy.
The most important thing to help us continue to function and try to cope is care and respite from friends and family. It is often so difficult to perceive the impact of Felix’s disabilities on our other two children and on us as parents and as a couple. Times are sometimes quite bleak with continued sleep deprivation and his relentless healthcare appointments on top of his inability to walk or eat solid food.
We live day to day with huge peaks and troughs in our ability to function and cope but look forward to small pleasures such as days out and trying to build memories for all of our children.
The Sandcastle Trust was introduced to us via a family whom we know via the CFC Facebook page.
We were fortunate enough to be offered complimentary tickets on a Polar Express train ride for us all via the charity. We had a wonderful evening, with all the children enjoying seeing how magical an experience it was for little Felix.
We have a few friends dealing with disabilities and genetic problems such as Down’s Syndrome. Their difficulties are every bit as challenging yet for many genetic conditions there is a community of other people close by. These support networks are immensely important and critical to help parents cope and have some perspective and reassurance. They also offer unexpected friendship and a shoulder to support families in difficult times.
Rare genetic conditions can be extremely difficult to deal with as are all disabilities, but having the cherished moments to look forward to and refer back to is a wonderful gift. Such a simple idea, but so powerful!”
John & Julia Davidson
Vinnie’s Story
Kelly Harrison had a normal pregnancy with her second child, Vinnie James. But when her baby son was just four weeks old she noticed his muscles were unusually weak. He had no real strength in his neck and his arms were floppy. Kelly spoke to her health visitor who thought it wasn’t a cause for concern.
Then at eight weeks old, Vinnie had a temperature and was very floppy. Kelly, from New Malden, Surrey, took him to hospital and refused to leave until she saw the lead paediatrician. He was referred for an urgent appointment to St George’s Hospital, London.
A week later, Kelly, 36, and partner Luke James, 37, took their son to see the neuro-muscular paediatric consultant. The doctor diagnosed him on sight with the genetic disorder SMA Type 1. Vinnie was just nine weeks old. Blood tests confirmed the diagnosis a week later.
“I already suspected it was a muscular atrophy or dystrophy,” Kelly recalls. “I was very worried. I had a childhood friend whose daughter had SMA type 2, so I had heard of it before. It was absolutely terrifying. I searched online and found information which said 90% of children with SMA type 1 are dead before the age of two. The doctor told us Vinnie wouldn’t make it to his first birthday. Nothing could be done about it and we should just take him home and love him. It was overwhelming.”
SMA is a rare, genetically inherited, neuromuscular condition which occurs in around one in 10,000 births. It is inherited in an autosomal recessive manner – this means both parents need to be carriers of a mutation in the Survival Motor Neuron 1 (SMN1), for their child to have SMA. There is a one in four chance of a child inheriting the disorder and a 50% chance of a child being a carrier.
There are four main types of SMA. Types 1, 2 and 3 appear in childhood and type 4 is adult onset. The SMN1 gene produces SMN protein which affects a particular set of nerve cells in the spinal cord and brainstem, called the lower motor neurons. These neurons carry messages that make it possible for us to move the muscles we use, to walk, move our arms, hands, head, and neck, and to breathe and swallow. If there is a reduction in the production of SMN protein -as with Spinal Muscular Atrophy- muscles are affected.
Symptoms of SMA are variable but in SMA type 1, the onset typically occurs before six months old. Babies are floppy, due to their low muscle tone (hypotonia) with severe muscle weakness. This muscle weakness affects movement, swallowing and breathing. The brain is unaffected, and children are often described as bright and alert. SMA type 1 is severely progressive.
Whilst the family was reeling from the diagnosis, Vinnie was offered a lifeline in a clinical trial of new drug Spinraza, trials of which were ongoing into whether it could halt the progression of SMA. In October 2015, at seven months old, Vinnie joined the Spinraza clinical trial at Great Ormond Street Children’s Hospital, London.
Spinraza aids the production of the SMN2 protein, which is the back-up gene to the SMN1 gene. It helps to stop muscle deterioration and halt the progression of SMA. The drug is delivered via lumbar puncture every 17 weeks. Spinraza was approved for NHS use by NICE in May 2019.
Kelly says: “A month before Vinnie started the trial, we almost lost him as he went into respiratory distress and was very weak. He used a facial ventilator all day and he didn’t move. Now thanks to the drug trial he is off the ventilator for eight hours a day. He has arm and hand movements. He can play with toys, use an iPad and operate his powered wheelchair. It has been amazing. He would probably be dead by now without the clinical trial.”
Vinnie can sit up, supported, however he has lost his swallow function. He has what is known as an unsafe swallow – so he is fed through a tube in his stomach. He doesn’t speak and has tongue tremors. Vinnie started in a special needs school in May 2018 and Kelly stays with him to help with his care. Vinnie sees the neuro-muscular medical team every four months. He has physio both at school and at home.
Kelly says: “Vinnie enjoys school. He is intelligent and knows his numbers, colours and shapes. He needs stimulation as he gets bored quite easily.
“Caring for Vinnie is a 24 hour, seven days a week job. We live in a flat and I carry Vinnie up 15 steps, with no lift, to get to our flat. I take him on my daughter’s school run. We have overnight nursing every night, and Vinnie is ventilated and fed overnight. I get to sleep but I don’t sleep well. When he is on his ventilator, he doesn’t need to have his airways cleared. Off the ventilator he can aspirate on his secretions if we do not stay on top of clearance. He has reflux and when that is bad, we have to suction his secretions more.”
Kelly adds: “We have entered the unknown, we don’t know what the progression of his SMA will be. My biggest worry is if Vinnie gets sick as he can’t cough to clear his lungs. A cold is life threatening to Vinnie, so we have to be very careful and we avoid crowds.”
Thanks to The Sandcastle Trust, Vinnie had a Sandcastle Santa day out at Chessington World of Adventures to meet Santa in 2018. As the trip was scheduled for a quieter time, it meant Vinnie could avoid the crowds.
“Vinnie enjoyed the day out so much,” Kelly recalls. “It was lovely to make memories as a family. Vinnie loves to go out for the day. He enjoys theme parks, fairgrounds, the zoo and woods. He is a real outdoors kid. On the whole he is a happy little boy.”
This year, when lockdown restrictions were lifted and Vinnie no longer had to shield, The Sandcastle Trust arranged for Vinnie and his family to have a short break away together in an accessible lodge in Somerset: “We had such a lovely time!” Kelly recalls. “Vinnie was in and out the hot tub every day, and Kaydee and I some really special and rare girlie time together when Vinnie had gone to bed. We cannot thank The Sandcastle Trust enough, it was wonderful to get away after such an awful year.”
Olivia’s story
Ten-year-old Olivia Peterson was born with an extremely rare genetic condition which causes a build-up of ammonia in the bloodstream. It led to her becoming critically ill days after her birth and has left her with life-long health conditions.
Olivia was born healthy in 2012 and her mum Emma took her home from hospital the following day. But by three days old Olivia was rushed to her local hospital very unwell. The new-born rapidly deteriorated and became unresponsive. She needed ventilation and had a multitude of tests and scans, while doctors investigated the cause.
“Tests came back showing Olivia had raised ammonia, a toxic substance we usually excrete in urine,” Mum Emma, 46, explains. “Olivia’s body wasn’t excreting the toxin and the ammonia was accumulating in her blood, it was poisoning her body, but no-one understood why. She was rushed to London’s Great Ormond Street Hospital (GOSH). It hit me how serious it was. I felt numb. All I could do was stroke her tiny head, willing her to live.”
The next day the team at GOSH had a diagnosis; the rare life-limiting condition argininosuccinic aciduria, which affects one in 70,000 people in the UK. It occurs during what is called the urea cycle, where ammonia is produced from the body breaking down protein and the toxin is urinated out. Because of an enzyme deficiency, the ammonia in Olivia’s body had accumulated in her bloodstream, making her critically ill and causing brain damage.
The medical team had to filter Olivia’s blood to get the ammonia levels down quickly. They then needed to find the right balance of milk (protein) feeds and medication to keep her ammonia levels under control.
“We’d been told to prepare for the worst, so at that point we were grateful for anything,” Emma recalls. “We were relieved to finally understand what was wrong and find out there were children living with the condition.”
Olivia spent six weeks in GOSH, but doctors were unsure what the future held and whether she would learn to walk or talk. She did learn to do both and now aged 10 she is thriving, although her learning age is around half her chronological age, and she has epilepsy as well as autism. To control the urea cycle condition, Olivia needs to stay on a strict low protein diet and medication for life.
Emma says: “Her learning has progressed, and I am so proud of her. She is in Year 6 of a mainstream school, with a 1-2-1 assistant, doing work at her level. It will be so wonderful when she starts in a special needs school for Year 7 as it will be more suited to her needs.
“We have absolutely no idea how long we have with Olivia. If the ammonia levels get too high, it can be life threatening. She is also more susceptible to bugs, especially sickness bugs. You can’t leave Olivia on her own as she can have a seizure. She used to have tonic clonic seizures every two weeks but anti-convulsant medication has reduced the frequency. With all the trauma I promised I would try to balance out the tough times. Family time is like gold for us.”
Day trips are difficult with Olivia, as she can’t cope in busy environments and as Emma is a full-time carer for Olivia, she is limited in the treats she can afford for Olivia and her brother Jacob, seven.
The Sandcastle Trust wanted to help the family create those special memories with Olivia, through their Sandcastle Memories programme. The programme offers respite for families living with a rare genetic condition in the form of UK breaks and days out. The charity arranged a weekend away to CBeebies Land with a two-night stay at the CBeebies Land Hotel.
Emma says: “It was a beautiful sunny weekend; it was quiet and there were no long queues for the rides. It was absolutely wonderful and it was something we just couldn’t have afforded to do without The Sandcastle Trust.
“The hotel caters for children with learning difficulties, and they were great with Olivia. We stayed in a themed
room, which the children loved, then watched the character shows in the evening. It was all very interactive and Olivia was able to meet the characters and have photos taken. She hugged and had photos with them all. She loved it and she did things I’ve never seen her do before – Olivia was dancing her socks off with the character Hey Duggee.”
Emma adds: “At CBeebies Land itself we went on the rides and Olivia was able to go on a rollercoaster for the very first time. We also visited the Sea Life Centre there and Olivia stroked a starfish. She was fascinated by the fish in the aquariums.”
Olivia’s brother Jacob also benefits greatly from day trips out together as a family.
“It’s hard to see the impact on Jacob,” Emma adds. “He gets really upset if he hears Olivia is unwell at school or having a seizure and needing an ambulance. He’s seven but he’s more like the big brother.
“It’s about making precious memories for the two of them. We also recently went to Willows Farm as part of the charity’s Sandcastle Santa programme. Olivia met Santa and he couldn’t have been more real for her, with elves and a winter wonderland. It was magical.”
Amy’s Story
Amy Moses is 25 and was born with the rare genetic condition Coffin Lowry Syndrome (CLS), which causes complex needs.
Amy lives with her parents Kerrie Thomas, 44, and Dad Nigel Moses, 51, in Gwent, Wales. When Amy was six weeks old, Kerrie saw her doctor, worried their new-born was floppy and couldn’t lift her head.
Paediatric referrals and an MRI scan followed, but it took two years for Amy to be diagnosed with CLS; her case had to be referred to geneticists in America who confirmed she had an alternation in the X-linked RSK2 gene. Tests showed Kerrie and Nigel were not carriers and Amy’s case was a one-off occurrence. Because of the continuous level of care Amy requires at home, the couple chose not to have any more children.
“For the first ten years it was a world of doctors, accessing care and occupational therapy,” Kerrie, who is Amy’s carer, says. “The doctors said they didn’t know what the future held. We never wanted to know what her life expectancy would be. Amy has learning difficulties, mobility problems, low muscle tone, incontinence, anxiety and significant speech and language delay. She also has double curvature of the spine and autism.
“Amy’s health is declining more now and it’s sad to look back at how quickly she has declined. She used to be able to walk, she could even take part at sports day at her special needs school. But now her health is worse, her eyesight and hearing are worse. Her mobility is the biggest deterioration, and she uses her wheelchair a lot of the time. She has ‘drop attacks’ where she falls to the floor, which can be so dangerous. I need to watch her all the time and I can’t leave her on her own, even to go to the toilet as she might fall and hurt herself. The drop attacks can be one after the other and can be up to 15 times a day.”
The family had a recent scare with Amy rushed to hospital struggling to breathe. She was diagnosed with sepsis, which is an increased risk for Amy as she has a compromised immune system.
When Amy reached adulthood, the family found her health needs increased just as the support they received diminished.
“As soon as your child reaches 18 or 19, all the support goes,” Kerrie explains. “Amy had an amazing paediatrician; she was under a spinal surgeon and an occupational therapist. Then at 18 that was all gone. When people say, ‘you are complaining again’, well yes, we are complaining again. We are ok, Nigel and I make a good team, but more support needs to be given to families on their knees.”
Kerrie adds: “Amy has a lot of challenges, but I don’t tend to look at the negatives. She is a happy young lady, and we focus on the special memories we can make together as a family.”
The Sandcastle Trust wanted to help the family create those special memories with Amy, through their Sandcastle Memories programme, which offers respite for families living with a genetic condition, in the form of UK breaks and days out. The charity arranged a holiday to an adapted holiday park for Amy’s family, but unfortunately it had to be cut short after one night as Amy became very unwell. The Sandcastle Trust then arranged for Amy to see her favourite TV children’s personality, Justin Fletcher, on stage in Cardiff.
Kerrie explains: “We were so deflated after having to come home early from the holiday. We were looking forward to the hydrotherapy and the sensory room, but she was very poorly. When Sandcastle called and said they wanted to help us again, I cried.
“Amy really wanted to see Justin Fletcher. It was a win for Amy, she was so happy, and we were upgraded to a box! She was smiling when Justin was onstage, shyly waving to him, then Justin looked up and he waved at Amy. If smiles were measured in pounds, we were millionaires that day. It was absolutely wonderful. The memories mean everything.”
Reuben’s Story
Sophie Byrne’s favourite picture of her sons shows them splashing around happily in a pool in Devon.
Her middle son Reuben’s eyes gaze up at his older sibling, Harry, a look of pure happiness and brotherly love is captured on his face.
For Sophie this image is even more precious because four months after the joyful picture was taken, Reuben passed away.
Sophie, 30, says: “Reuben passed five days before Christmas, he was two.
“We feel so lucky to have had that time away with him as a family. All our favourite photos of Reuben looking happy are from that holiday.
“He absolutely loved the pool and came alive when he was in there.”
She adds: “Reuben had his own little character, when you got a smile or laugh out of him we felt as much joy as you would if a child had taken their first steps or ridden a bike. If he was having a cuddle he’d look up to you, he’d lock on to your face with his eyes momentarily and give you the biggest smile.”
Sophie and her husband Sean, 35, an army officer, had experienced loss before. Their first child Olivia was born in 2012 but died from the same genetic condition as Reuben at just eight months old.
Sophie, from Larkhill, Wiltshire, says: “Doctors told us lighting doesn’t strike twice but they didn’t know Olivia’s condition back then.
“Harry was born in 2014 and was fine. On the day Reuben was born they told us lightning had struck twice he had the same thing. Just three weeks later they discovered the faulty gene that had caused both children’s disabilities and told us both Sean and I were carriers.
“There was a one in 25 million chance of that happening and only 20 known children with the same faulty gene. I remember them saying most babies born with the condition don’t live past their first year.”
Reuben and Olivia shared the same symptoms: complex needs, seizures, and physical differences like a high palate.
When Sophie and Sean realised Rueben’s life would be short, like Olivia’s, they decided to have another baby, another sibling for Harry because losing his beloved brother would be so devastating for their older son. Felix was born healthy in 2021, after tests in the womb showed he did not have the gene.
Sophie says: “When we approached the Sandcastle Trust we knew our three boys might not have long together. The organisers said they would be able to arrange an autumn half term break but when we explained Reuben might not live that long, they pulled out all the stops to sort a holiday cottage in August, 2021. I will always be grateful for that.”
The family spent an idyllic week at the cottage in Devon.
Sophie says: “It was just perfect, the dream holiday in the UK. The house felt like a mansion and was set in an acre of land, it was so quiet and peaceful, perfect for Reuben.
“You could book the shared pool so we had it to ourselves. Reuben had only been in the water once or twice before at his children’s hospice. He was so happy in there, kicking his legs. He loved the swing too.
“Felix had his first swim and Harry had loads of space to ride his bike and could go to the beach with Sean.”
Harry took it upon himself to swim a mile around the pool to raise money on behalf of Reuben. “The love he has for Rueben is so strong.”
Looking back, Sophie says: “The life Reuben had was lovely, everything he experienced, everything he did, particularly our holiday in Devon, were special. He was an absolute joy, we learned so much from him.
“Holding someone’s hand would make him happy. Something that simple is overlooked. He made us appreciate the real basics. He would cry if you put him down because that cuddle meant so much to him. And he would speak through his breathing, it would become faster paced if he was happy.
“Having Olivia and Reuben makes all of us appreciate life so much.”
Freddie’s Story
Little Freddie Skinner didn’t have a voice until he was two.
When he was just five weeks old doctors cut into his windpipe and inserted a tube, to help him breathe. While the procedure gave him life, it took away his ability to speak.
Mum Laura says: “When he had the tube removed two years later, Freddie could suddenly vocalise. It was the first time we heard him properly, apart from his very early cooing and crying. I remember him making that first noise – an excited squeal. Then, because he realised he could do it, he did it more and more. To hear him giggle was such a joy.
“We took him to a restaurant near the hospital for lunch and he was so loud squealing away happily. We both cried with happiness.”
Freddie’s giggle and squeal were heard in full effect when Laura, her wife Emma, and their son, now three, visited Bluestone National Park Resort in Wales, in July, courtesy of the Sandcastle Trust.
Laura, 29, from Norfolk, said: “We took Freddie swimming for the first time. He went crazy, Cooing, squealing and kicking his legs.
“We went to a nearby theme park where we discovered Freddie is an adrenaline junkie. He loved the big pirate swing, the sensation of it.
“It was a perfect holiday because it was our first break for just the three of us, without carers. We didn’t have the stress of appointments. It was so simple and enjoyable and we really saw Freddie’s confidence and his personality coming out.”
Freddie was born to Laura, a medical student, and Emma, 31, a support worker, at Norfolk and Norwich University Hospital in December 2017.
Laura recalls: “It was a normal pregnancy but straight away he struggled to breathe. He was rushed to the neonatal intensive care unit. They said he had “dysmorphic features” and that he probably had Down’s syndrome. The doctors gave us leaflets about Down’s. But a few days later blood tests ruled that out.
“While we were in hospital he struggled to breathe a couple of times but never when staff were around. When we raised it, it felt like staff thought we were being over-anxious.
“Freddie was our first child, we left hospital thinking that was normal. I remember sitting in a cafe, Freddie went blue and I said to my friends, don’t worry he does this all the time.”
But the breathing episodes became longer and more frequent. Emma and Laura took Freddie in and out of hospital insisting he was going blue and floppy and struggling to breathe but he never did it in front of medics.
Freddie’s health visitor was the first professional to take the couple seriously. She insisted their son was seen in the hospital.
Laura says: “They did a sleep study and counted that he had 1200 apnoeas – where his breathing would temporarily stop – in one night. You could see his muscles were trying to make him breathe but no air was going in. He would turn blue and appear limp. Then finally his airway would open and he’d take a big gasp.
“Although it was horrific to hear how many episodes he was having, it was reassuring that medics realised we had been right all along.”
Freddie was transferred by specialist ambulance to Great Ormond Street Hospital for Children (GOSH) in London. It was there that doctors decided on the tracheostomy.
“We were not keen,” says Laura. “But they explained his life depended on it.”
Freddie, still only weeks old, stayed in intensive care with Laura staying in parents’ accommodation. Emma travelled to and from Norwich.
The couple were trained in managing the tubing in Freddie’s airway and were told they would have to have carers at home to help.
They were also given a diagnosis for Freddie. He had a rare chromosome deletion. It meant he would have global development delay and physical disabilities.
“I am training to be a doctor, I knew the severity of what they were saying.
“It’s not what you imagine when you have a baby,” Laura says. “It made building a relationship with Freddie harder. Because you have to watch your baby being held down and having blood taken you disconnect to protect yourself.
“It took a while for me to feel like a mum rather than a professional.”
She adds: “We had a fabulous nurse at GOSH, Jo. We owe her everything, she told us not to treat Freddie differently just because he had a trach. She came with us out of the hospital to prove the point.”
After a few weeks back in Norfolk hospital waiting for a package of care to be arranged, Freddie and his mums went home.
Laura says: “We got to know him again. He is hilarious, really smiley and fond of people. He has a big heart and loves to mimic people.
Laura noticed the Sandcastle Trust on Facebook and applied for a break. “They were absolutely lovely. You get such personal attention and nothing is too much trouble. “The Bluestone holiday came at just the right time. With Freddie’s tracheostomy removed and the carers gone we could be a real family, just make memories and revel in the sound of his giggles.”
