In 2009, at 28 years old Dave, my rugby playing, police officer husband started walking like he was drunk. On a holiday to Spain with friends, he suddenly lost the ability to wear flip flops, they would fly off his feet – it was the running joke of the holiday. Fast forward a few months and he started to have falls, walk with a limp and experience painful spasms in his legs. This was less funny – although we were still not overly concerned, he was young and apparently healthy, we thought perhaps a trapped nerve or a slipped disk was to blame.
What followed was the worst three years of our lives.
A report published by Rare Disease UK found that the average rare disease patient consults with five doctors, receives three misdiagnoses and waits four years for their final diagnosis. This was certainly our experience. Dave was subjected to appointment after appointment where various consultants would shrug their shoulders and an endless round of blood tests, MRIs, lumber punctures and nerve conduction studies. It was made clear to us that it was serious, neurological and degenerative – he wasn’t going to get better, in fact he was going to get a lot worse. Then came a series of misdiagnoses: First MS, then Primary Progressive MS, then Spastic Paraplegia and then PLS (a rare form of Motor Neuron Disease).
It was an awful, lonely time. We felt isolated and lived a day to day life of fear and uncertainty. We were frustrated and terrified.
Finally, in 2012 he received the formal diagnosis of Adrenomyleoneuropathy – a rare genetic neurological disorder. Even the consultant wasn’t expecting to give us a diagnosis that day. We had met him for another routine appointment and a print out of Dave’s latest blood tests which were handed to the consultant by a nurse during the appointment had thrown up the result. He stumbled over his words as he gave us the news and Googled the condition in front of us.
The initial feelings were those of relief. Finally, we knew what was going on, the exhausting battle to kick down every door and shout loud enough to get a definitive diagnosis was over and we could begin to access the help and support Dave desperately needed but was so difficult to obtain without a medical label. But the diagnosis also bought with it the reality of a potentially frightening prognosis and snatched our future away. This wasn’t meant to be part of the life we had planned together – we were newlyweds, had just purchased our first home, both enjoyed our jobs and were planning on travelling, having fun and then perhaps starting a family.
Whilst he was undiagnosed Dave and I would have long conversations where we fantasised about being told it was something temporary, a phase, treatable and would get better or change. That’s hard to do when you have a diagnosis and we went through a long period of grief, mourning the life we thought we were going to have. However, when the shock began to wear off, we entered a period of adjustment and started to look at things more practically. My own ignorance and prejudices surrounding disability initially prevented me from envisioning us ever having a happy family life but you learn to adapt, to assimilate and a future started to emerge albeit most definitely not the one we had planned or hoped for.
Four years on and Dave is spending increasing amounts of time in a wheelchair and lives with the uncertainty that for some people with his condition the prognosis is terminal. Despite the constant daily challenges he faces because of his condition, he still works full time, has become a father to twin boys and enjoys family life.
As time went on we began to learn more about Dave’s condition. He had a less aggressive adult onset form of a gene mutation that usually kills boys before the age of ten. The knowledge that he may not have had a childhood and the opportunity to have a family, made Dave determined not to be overcome with fear about what might happen in the future, to make the best of each day – focus on the happy moments and not let disability be a barrier to experiencing everything that life has to offer and that included enjoying time together as a family.
This however, proved easier said than done. We quickly realised that Dave’s condition would mean we would have to navigate all manner of physical challenges when planning days out or holidays for our family. We began to think about how much harder it must be for other families in the rare genetic condition community to access much needed fun and respite – those that were unable to continue working following theirs of their child’s diagnosis, or those that have several children with the same diagnosis, for example.
That is where the idea of the Sandcastle Trust comes from. The physical emotional and financial strain of having a loved one with a rare genetic condition can often tear families apart. We hope to help other families like ours access holistic respite improving health, wellbeing, happiness and quality of life.
It was at five-months-old that Mum Natalie McDougall started to worry about her first-born son Louie.
“He was born very small, just 4lb 11oz, but at five-months-old his foot had dropped into a pointed position,” Natalie, recalls. “He wasn’t meeting milestones, wasn’t sitting up or bearing any weight on his legs.”
Louie was referred to a paediatrician and diagnosed with hypotonia, which is low muscle tone. He had a cast fitted to correct the foot drop and started further tests to determine what could be causing it.
Doctors initially suspected spinal muscular atrophy, but the test came back negative when Louie was seven-months-old. Then in December 2012, Louie, by now aged eight-months-old, became very unwell.
Natalie, from Mitcham, Surrey, says: “We were out shopping when Louie collapsed and stopped breathing. He was rushed to hospital where doctors told us he had respiratory bronchiolitis and his diaphragm had become paralysed. It was the last time he was able to breathe for himself and he was ventilated in hospital for the next seven months.”
Louie was transferred to the Evelina London Children’s Hospital and tested for the rare genetic disorder SMARD (spinal muscular atrophy with respiratory distress). The test came back positive in January 2013. SMARD is an inherited neuromuscular degenerative disease that causes infants to lose voluntary muscular functions, such as breathing and swallowing.
One in 50,000 people carry mutations in the IGHMBP2 gene that is linked to SMARD. Natalie and Louie’s father, Reece were both found to be carriers of the faulty gene.
In SMARD, the link between the brain, the spinal cord and muscles is impaired. Muscles can no longer be stimulated, which causes them to waste and it affects every single muscle in the body. SMARD is a life-limiting condition and there is no treatment available.
Natalie explains: “We were devastated. The doctors told us we needed to let Louie go naturally and there was no hope. I didn’t know anything about genes or SMARD, but I researched it and pushed for a tracheostomy to be fitted which would enable my baby to come home. In March 2013 Louie had the tracheostomy fitted and was home four months later with a ventilator, which is the size of a lunchbox.”
At first Louie could still move his limbs, but the condition progressed quickly and he became fully paralysed from the neck down, unable to walk, sit up, lift his head and or speak.
With such complex needs, Louie needed round the clock medical care – which Natalie and Reece were trained to do with some help from night-time nurses.
“We ran our home like an Intensive Care Unit. It was hard work, particularly since we had other children,” Natalie explains. “We both had to give up our jobs to care for Louie. We didn’t want to leave Louie in a hospice.”
Natalie adds: “Despite being under the care of the palliative care doctors Louie was a happy and smiley boy. He loved to be cuddled by his brothers and watch Disney films. He was home schooled by a tutor for one hour a day and used an eye-gaze for simple words.”
Natalie says: “I was really worried about having other children. We saw a geneticist and whilst the love you have is the same for each child, we decided we wouldn’t continue with a pregnancy if we had another baby with SMARD. I had a CVS diagnostic test with all three pregnancies.
“We attended The Sandcastle Trust Christmas party in 2018,” Natalie explains. “Unfortunately, Louie wasn’t well enough to go, but his younger brothers had a lovely time and it was really helpful to meet other families with rare genetic disorders, share experiences and have support from the charity.”
Then, tragically, on 10 May 2019, aged 7, Louie passed away leaving his family completely devastated.
“Although Louie had a life limiting condition you can never really be prepared to lose a child.” Natalie explains: “When Louie was with us, life was a lot more restricted and our lives revolved around him. Losing him was completely life changing and our whole family found it hard to adjust to our ‘new’ life.”
Louie’s three younger brothers struggled to understand his loss, particularly Charlie. Natalie explains: “Charlie finds Louie dying hard to talk about and will often burst into tears or just say he doesn’t want to talk about it.”
The family was supported by The Sandcastle Trust after Louie’s death. Natalie says: “The Sandcastle Trust arranged for us to have a short break at Butlins. It allowed us a chance to remember Louie and relax whilst creating some fun, happy family memories for Charlie, George and Arthur. Charlie said it was “the best holiday ever!”
Natalie adds: “Louie taught me so much during his life and how to truly love and care for someone. I will miss him every day for the rest of my life.”
Meet 8 year old Tabby.
Tabby’s family have been on a very long journey to obtain the correct diagnosis for her and she has recently been diagnosed via the 100,000 Genomes Project with TANGO2, a very rare genetic metabolic condition that causes episodes of metabolic crisis and carries the risk of cardiac failure. It is thought that there are less than 30 affected individuals worldwide. Tabby also has a chromosome disorder – 22q11 deletion. This affects her in various ways; she has learning difficulties, speech difficulties and a cleft palate.
Hannah, Tabby’s mum explains “It has been a scary time for us as a family getting our head around the TANGO2 diagnosis and it has been made so much harder by the coronavirus lockdowns and the isolation this brings.”
Hannah got in touch with The Sandcastle Trust and told us how Tabby and consequently the whole family have really struggled with the Covid-19 restrictions, “Tabby does not really play with toys, she needs 1:1 supervision and does not play independently. She hates being cooped up indoors and loves to be outside whatever the weather. She has found this winter lockdown particularly hard.”
Tabby’s family were one of the first families to benefit from our new category of support – ‘Sandcastle Memories At Home’ and we were pleased to provide Tabby with an Artmark House. A fun alternative to easels, the Artmark House will provide Tabby with her own sheltered space with white board, black board and perspex surfaces to draw and paint on.
The Artmark House is in the garden which is where Tabby is at her happiest. It gives her a safe place where she can be creative and try to develop more independent play. When she first saw the house she was so excited. I have not heard her laugh this much in ages. She loves painting and drawing in it. Thank you so much to The Sandcastle Trust.
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.”
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.”
“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
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.”
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.”
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.”
Sannah Fayyaz was 24 when she first visited London on a trip her family will never forget.
Sannah, from Burnley, Lancs, has San Fillipo disease which, over 14 years, has slowly robbed this vibrant young woman of her abilities.
But mum Feeraz says her daughter loves the hustle and bustle of cities and is a real foodie, so a trip to the capital was a dream come true for them and dad Muhammad and sister, Ummul, 20.
Feeraz, 49, a care manager, says: “Ummul had been to London and thought it would be great trip for Sannah. But Sannah has to have two people caring for her at any one time and is a wheelchair user. To take the family and a carer to London would have been really expensive.
“Sorting out wheelchair accessibility and travel around London would mean lots of organising.
“The Sandcastle Trust took all that worry off of us.
“We felt they really understood Sannah’s needs and what would work for her. They were so enthusiastic about suggesting things too.
“We went on the London Eye and on a cruise of the River Thames. Sannah got to have a picture with her favourite Bollywood star, Salman Khan at Madam Tussaud’s.
“The hotel was perfect and we didn’t have to keep explaining our needs, everyone just got it.
“The fact the Sandcastle Trust organises breaks for families of adults as well as children is really important. You don’t stop caring when your child reaches 18.
“The trip was something we will always remember away from the chaos of everyday life, a chance to really be a family.”
At three years old Sannah was like any other child.
Feeraz recalls: “When she was three she could count to 20. She could sing nursery rhymes and was potty trained.
“We thought she had asthma and would attend a clinic for that. At a check-up when Sannah was three her doctor noticed her tummy was larger than usual and she had a glue ear and snotty nose. He did some tests. Three months later we went back to the asthma clinic to be told she had the degenerative genetic disorder San Fillipo.”
She now has profound mental and physical difficulties. But Feeraz describes her as “a very happy young lady.
She says: We don’t like to think Sannah is defined by San Fillipo, every child is different.
“She loves her food, she will try anything. We always have to puree it so we take a machine with us everywhere.
“She loves going to Manchester and looking at clothes in the Trafford Centre. She enjoys having her nails painted and her hair done, which her carers do for her when they are at our house. She loves music too, it’s always blaring away.
“I imagine if Sannah didn’t have San Fillipo, Ummul and her would be out and about together and I would never see them. Sannah loves going out but she always has to come home. This trip enabled them to explore London together.”
Feeraz concludes: “Everything in my life revolves around Sannah. I just want to make sure she is happy, comfortable and safe and she can do all the things she wants to do.
“If she’s not well, I’m having a bad day. If she’s happy I’m on top of the world.”