Henry’s Story
“Henry is three years old and has the rare genetic disorder Diamond Blackfan Anaemia. This means that his bone marrow does not function correctly leaving him reliant on blood transfusions every 3-4 weeks to stay alive.
We found out that Henry was poorly at our 12-week pregnancy scan, he had an increased nuchal measurement at the back of his neck and a lot of excess fluid surrounding his body. At that point, we had the option of having genetic testing or a termination and we were told that there was an 80% chance Henry would not survive. We opted for an amniocentesis, which revealed he had none of the more common genetic disorders and doctors could not give us a diagnosis, so we continued with the pregnancy.
Much to everyone’s surprise, Henry made it to 36 weeks before doctors noticed he was really struggling, so he was born via emergency c-section four weeks early. He was extremely poorly when he was born; he had to have two immediate blood transfusions, was placed in an induced coma and ventilated. He spent three weeks in the NICU and has been blood transfusion dependent ever since birth. We finally got a diagnosis of DBA when he was three months old following a bone marrow biopsy, which was confirmed by genetic testing a few months later.
Henry has had almost fifty blood transfusions in his life. Each blood transfusion he has deposits iron into his body which is fatal if left untreated, so we have to insert a needle in his leg or tummy every night and connect him up to a medication pump for twelve hours overnight to strip the excess iron from his body. He’s very resilient but he really dislikes having to be hooked up to the pump! Before a blood transfusion he gets very tired, pale and emotional, he is usually very even-tempered but the smallest thing will make him cry when he’s running low on blood. The transformation after a transfusion is like night and day, he is full of energy and Henry is old enough now to tell us that it makes him feel so much better. Because Henry is towards the severe end of the spectrum for the disorder, he is due to have a bone marrow transplant this year. He will have a week of chemotherapy to knock out his faulty bone marrow prior to the transplant and will then have three months in isolation in hospital followed by up to a year’s isolation at home while his immune system recovers.
We know that this will be a difficult time for us as a family but if it works, it will mean Henry will be able to produce his own blood so will no longer need blood transfusions or the nightly pump!
Henry’s illness has put a lot of strain on us as a family. I had to quit my job to care for him so we were immediately down to one income and there’s no real way of describing the emotional impact of a diagnosis of a chronic, life-threatening illness for your child. The Sandcastle Trust stepped in and supported us in the best way possible, by giving us the opportunity to have quality time together as a family. We were gifted annual zoo passes for our local zoo, not just for us, but for Henry’s Grandparents too as they are such a fundamental part of our family and support us with Henry a lot. I have some health issues myself and knowing that when I’m not feeling up to it, Henry’s grandparents can pop over and take him to the zoo and have a fantastic time while I can focus on myself is priceless. We’ve been to the zoo at least every two weeks since we were gifted the passes, Henry had never been to the zoo before as it would have cost us £80 just for one visit and we simply couldn’t afford it. For him to have been able to go whenever he wants over the last few months and for us to be able to spend care-free time as a family and do some ‘normal’ activities is worth it’s weight in gold to us. Henry goes through so much day to day and the isolation following his impending bone marrow transplant will be incredibly challenging, to have lots of happy family time together now is a brilliant gift. We simply would not have been able to do this without the Sandcastle Trust and are forever grateful for them for their help and support.”
Elisia’s Story
“When Elisia was born in April 2015 as far as we knew it she was ‘normal’, weighing a healthy 8lb 8oz. She passed all her new-born screening tests and was absolutely gorgeous.
We joined the standard classes and groups making mummy and baby friends at each one. Everything was lovely for the first few months. Then when Elisia was between four and six months a few things started playing on my mind and I wondered why she was not doing as well as the other babies. Everyone kept telling me: ‘all babies are different’, ‘she will get there in the end’ ‘all babies learn at different rates’ etc.
When she reached about seven months old things became more difficult. Taking her to classes and groups became a struggle. Simple questions from other mums upset me, even the standard opening question ‘how old is she?’ made me anxious. I would think they were asking because they had noticed how little she could do. The list of things she should be able to do but couldn’t was now getting long: rolling, sitting unaided or crawling. So, I went to the GP who agreed a referral to a paediatrician was needed.
We had to wait until she was nine months old to get a date for this appointment, so we enjoyed our first Christmas together as a family of three and carried on as usual. We also attended a lot of Elisia’s friend’s first birthday parties. This was difficult – they were all walking or at least standing and walking with a parent whereas we were getting excited as Elisia had just mastered a roll!
When we saw the paediatrician and told him the milestones Elisia had not yet met, he referred us straight away for tests. Bloods were taken that day and an MRI scan booked for the following month. That was such a scary and long day at the hospital for a little girl but she handled it so well. She is a placid and content person.
All Elisia’s tests and MRI scan came back negative. The paediatrician told us he was waiting on the genetics team to get back to him. Everything sounded fine, we made a big sigh of relief. Elisia then had her first birthday in April. She had two parties and we had a little holiday in Butlins – our first family holiday. She couldn’t go on most of the rides but we had a nice time, Elisia absolutely loved the pool.
When Elisia was thirteen months old we went back to the paediatrician and were given the devastating news that Elisia had a rare chromosome disorder, 5q14.3 deletion. What even is that?! Even the doctor appeared to know practically nothing and couldn’t tell us much about how our little girl would be affected as he hadn’t come across it before. He downloaded the 5Q14.3 deletion leaflet produced by the charity Unique which explained the condition and then sent us on our way feeling frightened and bewildered.
Reading the leaflet I was in flood of tears… ‘may not walk till much older if at all, may never talk, prone to autism, epilepsy, hypotonia etc’
I was numb. I tried my hardest not to get too upset or stressed because at this point I was five months pregnant with our second child. I knew I needed to be strong for my unborn child and also be there for my little girl who that same day had further blood tests along with Mummy and Daddy to see if one of us had the same chromosome deletion and had passed this to her. We later found out that it was a ‘de novo’ chromosome deletion which means there was no family history of this genetic change and it appeared in Elisia for the first time.
We went to see the genetics team in Winchester a few months later. We had high hopes that at this appointment someone would finally be able to answer our many questions. However, we were handed the same Unique leaflet that we had been given at the paediatrician appointment! We were told that Elisia seemed to be doing quite well (compared to many of her 5q14.3 deletion peers), she was strong so clearly did not have hypotonia which is one of the most common symptoms with her deletion. We did however find out that within her 5q14.3 deletion she was missing an entire gene – MEF2C. We later found out this is a commanding gene and explained many things. She seemed to show more similar traits with people who had an issue with MEF2C rather than just a 5q14.3 deletion.
We then found the MEF2C group on Facebook and I can honestly say I feel like I am now part of a global family. This group is small group – 273 members, so I feel like I know many people quite well. We support each other, pick each other up and no matter the time of day (if Elisia is not sleeping at 2:00am or we are in hospital and I cannot sleep for instance), one of the other group members on an opposite time zone e.g. Australia or America will talk to me, support me and cheer me up.
When Elisia was seventeen months old, her baby brother was born. As I had to have a c-section, for the
first twelve weeks we had visitors every day and we had lots of support. Then followed some of the loneliest and darkest days of my life. It was winter and I struggled to leave the house with both babies as I couldn’t carry them at the same time. The visitors became few and far between and the days were long and hard. Then the second birthday invites started to roll in. I felt pleased that Elisia was still being included but also extremely anxious about the fact that she was VERY different to her peers now. She was still a ‘baby’ and they were all clearly ‘toddlers’ running around, jumping, laughing etc, whereas Elisia could not even stand or crawl.
When Elisia was a little under two years old her little brother started crawling at just 5 months old. It hit me hard that her little brother had overtaken her developmentally. Elisia had been trying all year to master crawling and he picked it up in a few days. I was honestly depressed but I also felt incredibly guilty that I couldn’t be happy for my son as I was grieving for Elisia. It seemed to come so easy to him with very little effort. Why is life so unfair? to make some children work so hard for what many people take for granted. However, with each passing milestone my son achieved, for instance walking at just 9 months I found it got easier and I could be happy for him. I may never hear my daughter say she loves me and that is the hardest thing with all this. I can cope (well possibly my back can’t) with the physical side of this. But if she never talks, that I think will slowly break my heart.
At 2 ½ years old she got a place at a fantastic special needs nursery attached to a school. She also has lots of equipment now like a stander, a supportive chair and a walker. Most of her specialists now see her at nursery, so our hospital visits have decreased considerably. I know some people do, but I didn’t consider mainstream for long at all. For now, this is the best place for her. Whether this will change I am not sure. Within three months at the nursery she was doing well and started crawling! It’s about a year since then and I still stop whatever I am doing to watch her crawl as I am still overwhelmed and emotional to see it.
I often get the comment ‘well, at least she is so beautiful’ well, yes, she is and it isn’t always easy to identify her disability straight away, especially if she is sat down. Because of this I am continually explaining that she has additional needs when people give her something to hold and she doesn’t reach out for it or they try to talk to her and she looks the other way for example. It is also uncomfortable when she bites her hand, grinds her teeth, stims or jerks. People don’t know how to handle this. Even people close to us often laugh it off, stare at her or say something inappropriate. I don’t want people to walk on egg shells around us but do wish people thought more before speaking and filter whether that comment or action could be deemed upsetting.
Elisia continues to amaze me all the time. She can almost now stand unaided and is trying so hard to pull to stand up. She loves music and water. I often wish I had an easier life. But if that meant giving her up (or indeed giving up on her) I soon stop wishing that. I am blessed to be given my daughter. She is unique, loving and so very special. She puts a smile of my face every day.
We are very grateful to have received support from various wonderful charities and I wish we had found some of them earlier on our journey.
The Sandcastle Trust is an amazing charity. It is a small one but they make such a difference to the families they support. We really appreciated the family day out to see Santa at 4 Kingdoms Adventure Park and Farm that they awarded us through their Sandcastle Santa scheme. The whole family had a lovely day out and the grotto had amazing lights and music which Elisia loves. Christmas is such an expensive time of year, especially when special needs items cost so much more than ‘normal’ presents so we really appreciated being awarded a family day out to see Santa – Thank you to The Sandcastle Trust!
Ruby’s Story
Ruby is 5 and has Angelman Syndrome. Ruby has a little sister called Lily and a little brother called Toby.
Ruby’s mum Felicity described Ruby as being “full of fun and mischief and she gives THE best cuddles and smiles.” Ruby had a difficult birth in that she wasn’t breathing, had suspected sepsis and spent her first week in intensive care.”
Felicity, recalls. “From 4 months old we knew something wasn’t quite ‘right’ with Ruby’s development. She wasn’t holding items like other babies her age, she would also turn to her side and make spasm movements, which we now know were seizures. Alongside this Ruby wasn’t meeting any other milestones such as sitting, babbling, crawling and walking.”
Felicity says: “I remember sitting with my other mum friends and their babies (we are all still very close now) and crying inside because I wanted my baby to be doing what the others were and knowing something was actually seriously wrong. Part of me didn’t want to admit it but deep down I knew something was seriously wrong.”
It wasn’t until Ruby was 2 years old that Ruby’s paediatrician agreed to commence genetic testing and Ruby was diagnosed with Angelman Syndrome. Felicity explains: “Part of us felt absolute relief that finally we had a diagnosis. The other half couldn’t believe how serious Ruby’s disability would be. We now knew she would never speak, have extremely poor mobility, suffer seizures for many years and would require life-long care. Having to get our heads around this took considerable time.”
“As so many children with special needs Ruby surprises us every day,” Felicity explains. “Ruby is toilet training and is beginning to tell us when she needs a wee by patting herself. She can now walk with constant supervision and with lots of medication Ruby’s seizures are under some control.” Felicity adds: “Above all this Ruby is so happy and makes everyone around her smile and want to be better people. She also gives the best hugs in the world!”
The Sandcastle Trust gifted Ruby an iPad and specialist communication software under the Sandcastle Memory At Home category of support.
Felicity says: “Now, thanks to the Sandcastle Trust, Ruby is beginning to use a communication aid to tell us how she is feeling, her likes and dislikes and make choices with her food.” Felicity adds: “This will give Ruby a better quality of life and allow her to learn how to communicate with her parents, siblings and teachers.
We cannot thank the Sandcastle Trust enough for giving Ruby this opportunity to have a voice and learn how to communicate with others. It means so very much. Thank you!”
Carmela’s Story
Lucy Chillery-Watson, 44, is mum to Carmela, six, who has LMNA Congenital Muscular Dystrophy, a rare genetic form of the condition. 
They live in Devizes, Wiltshire, with dad Darren, 49.
Lucy said: “When Carmela was born she wasn’t breathing, but the doctors managed to resuscitate her and she then developed as a normal baby.
“But when she wasn’t crawling by the age of 14 months I was concerned. Doctors told me it was hypermobility and not to worry, but she kept falling over and was struggling to reach her toys.
“She had her check with the health visitor just after she turned two and was referred to a physiotherapist as she did not have the strength to stand up.”
The physio told Lucy that her daughter was using the ‘Gowers’ sign’ to stand up, where children use their arms to push themselves to standing position. This is linked to Muscular Dystrophy.
Lucy said: “They tell parents not to Google but I couldn’t help it, and I was shocked by what I found. There are many types of muscular dystrophy but all of them lead to mobility problems of some degree. I didn’t know if Carmela would walk or what kind of life limiting effects it might have.”
Doctors continued to investigate, and by the time Carmela was three she was diagnosed with LMNA-Congenital Muscular Dystrophy (LMNA-CMD), a very rare form of the condition caused by a mutation in the LMNA gene.
The severity of how LMNA-CMD affects someone varies from person to person, but it causes muscle weakness which can lead to problems with the heart and breathing difficulties
Lucy said: “Because the testing had taken so long, by the time we got the diagnosis it was a relief to know what was wrong. I’d had almost a year to process and grieve the fact my little girl would not have the childhood I’d envisaged, and now we had a diagnosis we had something to work with.”
But LMNA-CMD is estimated to affect only one in a million people, which meant no-one really knew the prognosis for Carmela.
Lucy said: “We were told Carmela’s condition was life limiting and she was unlikely to live longer than her late teens, which was very hard to hear. We just put it to the back of our minds and decided to focus on doing what we can right now.”
Lucy set up a Facebook page charting Carmela’s journey in an effort to connect with other families whose children have the condition, and made friends across the world, including in Italy, Germany and South Africa.
Carmela struggles to walk long distances or up hills and relies on her power wheelchair when the family go on a walk together. She has also started to lose her arm strength, meaning she cannot lift her arms to scratch her head, for example.
And as the condition progresses it can weaken the diaphragm, causing breathing difficulties, and can also weaken the muscles in and around the heart, putting Carmela at risk of a sudden heart attack.
Regular exercise, movement and stretching is important for Carmela to maintain her strength and stamina, but when lockdown hit, the family’s carefully built routine and the care they had in place was taken away overnight.
Lucy said: “Staying active, stretching and moving is very important for Carmela, but I found it very difficult to motivate her during lockdown. She was no longer going to school and we had to shield meaning we couldn’t go much further than our drive for five months.
“The NHS don’t provide regular physio anyway, but the little we had was lost.”
Their situation was made more difficult when they decided dad Darren, a delivery driver whose job involved picking up Covid samples, should temporarily move out and sleep in their garden log cabin allowing Lucy and Carmela to self isolate.
Lucy said: “It was a very difficult few months, but we tried to make the most of it. Carmela completed several fundraising challenges and raised more than £30,000 for muscular dystrophy charities, I was so proud of her.”
Carmela was on the waiting list for hydrotherapy sessions as her consultant had advised warm water is an excellent form of 
physiotherapy, so Lucy applied to The Sandcastle Trust for an inflatable hot tub they could use in their garden.
She said: “We were so excited to receive the hot tub. Carmela loves splashing about in there and all the bubbles. We’ve rigged up a bungee cord for her too so she can have some independence and I don’t have to hold her the whole time.
“The warm water is really helpful for me when I stretch her muscles, and makes her physio much easier. And Carmela and her dad love getting in there together so he can relax after work.
“It’s made such a positive difference to our daily routine and it feels like a real treat.”
Like many six-year-olds Carmela loves her pet dog Tinker, unicorns, fairies and movies. Her favourite character is Wonder Woman.
Lucy said: “Carmela loves the control Wonder Woman has over her body and the way she can use her super powers.
“Relaxing in the hot tub gives Carmela a sense of weightlessness, it’s a place where she has more control of her body too.
“Seeing her splashing around in her Wonder Woman swimsuit, enjoying the bubbles and the warm water is such a joy for us, and it’s very helpful for her physio too.
“We always try to make the most of the time we spend together as a family, and the hot tub has really helped us to achieve that.”
Jamie’s Story
Jamie Tyler was three years old when he died in April 2019 from the rare genetic condition Leigh’s Disease. Jamie’s family were gifted a stay in the CBeebies Land Hotel at Alton Towers by the Sandcastle Trust in his memory. Here Jamie’s mum Sam, 36, from Hereford, explains how much the trip means to them.
Sam said: “I had a normal pregnancy with Jamie, and he was my third child. He seemed to be developing normally until he was five months old. He had been starting to smile and babble, but I noticed he had stopped making noises and was no longer giving us his cheeky grin.
“Then he started to lose interest in food, he no longer wanted to hold his cup or eat his toast, and by his nine month check we couldn’t tick any of the boxes for the milestones he should have been reaching.
“We were referred to hospital in Birmingham, then a specialist centre in Newcastle, and by April 2016, when Jamie was 16 months old, we had a diagnosis of Leigh’s Disease.
“It’s a rare genetic condition that affects only 1 in 40,000 newborns. There are different variations of the disease, but doctors found out that Jamie had the mitochondrial type, which is passed on by the mother. I was tested and they found low levels in my blood, as well as in Jamie’s older siblings Sophie, who’s now 17, and Jack, who’s now seven.
“There is very little information available about what to expect, but we were later told Jamie would continue to become more and more poorly, and his life expectancy was just three years old.
“I was devastated at the diagnosis, I had felt it was something serious but neither me nor Jamie’s dad Barry had ever heard of this. You just think Jamie will get to 10, then he’ll get to 16, then we’ll see after that. But hearing we would only have another two years with him, together as a family, was a huge blow.
“I was already five months pregnant with our fourth child Rebecca by this point, and Barry and I knew that if she had the condition then we would deal with it, but so far she hasn’t shown any signs of being affected.
“Once we knew we didn’t have much time left with Jamie we decided to make as many memories and take as many pictures as we could.
“Barry and I got married with the children as bridesmaids and page boys, and we organised lots of days out for all of us. Jamie and his brother Jack were so close, and they loved watching CBeebies together. Jamie’s movement was limited and he couldn’t speak, but when the show Swashbuckle came on he would move his arm in the pirate salute and we knew he was enjoying it.
“We had planned to go and stay in the Swashbuckle room at the Alton Towers hotel, but sadly Jamie passed away before we could go on the trip.
“Jack was devastated to lose Jamie, we all were. Jack did so much for Jamie and he never thought of himself or complained, he knew Jamie’s needs came first. Even now, when he looks up to the sky and sees a star shining brightly, he tells me it’s Jamie looking down on us.
“Together with the pandemic it’s been an awful two years and I wanted to give the children something to look forward to. So when I contacted the Sandcastle Trust and they said they would organise the Alton Towers trip for us, and for us to stay in the Swashbuckle room, I was thrilled.
“Jack is so excited, and the first thing he said was that he wanted to make sure Jamie could go too. We all have pillows with a picture of Jamie on them, and Jack has already decided he’ll be packing his pillow so his brother will be with him.
“It’s still so important for us as a family to create memories together, given what we’ve all gone through. Life is too short to wait and I firmly believe in having fun, staying positive and moving forward.
“This trip will help us all to do that, and thank you so much to the Sandcastle Trust for giving my family something really special to look forward to.”
The Family’s trip to Alton Towers
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Kennedy’s Story
Kennedy Mercer was five months old when a rare genetic condition claimed the life of her twin brother Karter. Kennedy has the same condition, Spinal Muscular Atrophy Type 1.
Both twins were diagnosed with the disease before turning six-months-old. Babies with it usually die within two years, often as a result of serious breathing difficulties, but smiley seven-year-old Kennedy has astounded doctors with her fight for life.
SMA Type 1 is a neuromuscular disorder which causes severe muscle weakness and progressive loss of movement. Babies with it are usually unable to sit upright unsupported or lift their head. They are prone to chest infections and have difficulty swallowing. All muscles are affected including the heart and lungs. Intelligence isn’t affected and babies are often bright, alert and responsive.
Karter and Kennedy were born premature in September 2012 after mum Jeannette, was diagnosed with preeclampsia. “The twins were well fought for, it was our eighth round of privately-funded IVF,” explains dad Paul, an HR executive from Grays, Essex.
“Other than arriving a little premature, everything was going well. Karter was two months old when I noticed he was crying through his feed and struggling to swallow. I noticed he hadn’t moved his legs in some time. We didn’t think for a minute he had a life-threatening illness but we wanted to get him checked so we took him to our local hospital in Basildon. He was given lots of tests and we paid privately for him to have an MRI scan in London. Everything came back clear.”
Doctors ordered one final test to check the nerve endings in Karter’s spine and it was then he was diagnosed with SMA Type 1.
“We were told, subject to blood tests, that doctors were 99 per cent certain he had SMA Type 1,” Paul explains. “They said there was nothing they could do for him and it was unlikely he’d make his first birthday. It was a life-changing moment. You start grieving right then when you are told your baby will die, even though he is still there, looking at you, smiling at you. You grieve for things you now know will never happen, such as seeing him kick a football, swim in the sea or run around the garden. I’d never heard of it before, I knew nothing at all about SMA.”
SMA is a recessive genetic disorder, meaning both parents must carry a faulty copy of the SMN1 gene for it to occur. If both parents are carriers – and research suggests one in 40 of us are – there is a one in four chance in each pregnancy that the baby will be born with SMA. Most people do not know they are a carrier until they have a child with the condition.
“We asked whether Kennedy might also have it and we were told that it was a possibility but the odds were in our favour,” Paul says. “She had a 25 per cent chance, the same as her brother. Kennedy’s blood tests were carried out in November 2012 but we asked not to be given the results until after Christmas. A few days afterwards, a local consultant turned up at our front door with a family liaison officer. We knew instantly she must have it, she was only four months old.”
The twins’ parents decided they’d give their children the best lives they possibly could – no matter how short. “We could sit at home crying and wondering why this happened to us,” Paul says. “Or we could do our best to give them the best quality of life we could.”
Sadly, Karter died of respiratory failure in February 2013 aged five months.
“He was in bed with me and I woke up about 2am to do his feed but he was cold and unresponsive,” Paul says. “I tried to resuscitate him. An ambulance arrived and paramedics took over, but we couldn’t get him breathing. I made a promise to him that night that we would ensure Kennedy had the best life possible. For a lot of people, it’s about keeping their child alive as long as possible but over time we realised that was not the be all and end all. We focus on making memories for her and making sure she has a brilliant life.
“I started doing more research and I flew to the US to meet one of the world’s leading specialists on palliative care for children with SMA. We had a challenge to get her the treatment we wanted but we pushed for her to have a drug called Spinraza. She started getting it when she was five and it’s made a huge difference to her life. If Karter had been given it at birth, he’d still be here now. It hasn’t been approved for all types of the disease, so we are lucky she got the drug. If it is given to newborns, SMA Type 1 isn’t necessarily seen as a terminal illness any more.
“With Kennedy, it has helped her to speak. She can sing songs. She loves Let It Go from Frozen. She has been able to express herself much better and it’s made her far more independent. She can draw, paint, go to school, go on days out and drive her own powered wheelchair.”
Kennedy is doing extremely well. She is home-schooled and goes into a local mainstream school on an ad hoc basis. “It is difficult to go regularly as there are so many bugs around and a simple cold could be life-threatening,” Paul explains.
Day to day, Kennedy’s parents ensure her airways are kept clear, which involves using a suction device every hour during the day. At night, she breathes through a ventilator. Kennedy is unable to eat or drink and all food is administered via a peg in her tummy. This allows food to go directly to her stomach, bypassing the most and throat.
She has regular checks at London’s Great Ormond Street Hospital, where she goes for her Spinraza medication, as well as weekly sessions with a physiotherapist.
Mum Jeannette gave up her job after the twins were diagnosed and is now Kennedy’s main carer. Paul works from home so he too can care for his daughter.
“After what happened with Karter, we decided to always keep her close to us,” he says. “She sleeps in bed with one of us. We don’t have any night care, but we take it in shifts so one of us is always by her side. Her brain works normally so sometimes she wakes in the night and wants to turn, but she can’t manage it. One of us has to physically turn her.”
“Most children of her age with SMA need a ventilator to help them breathe at all times, so Kennedy is very rare,” he explains. “When she is awake she can breathe by herself. On the whole she is doing very well.”
“She will never be able to walk, she’ll never sit up independently and she can’t play with her friends in a traditional sense. But she is one of the happiest children on the planet. She loves Disney and dressing up, she has every Princess outfit you could think of. She loves Barbie and playing with dolls just like many other little girls. She is at her best when she is surrounded by children her own age. She loves spending time outside in the garden, she loves swimming.
“We want to create as many memories as we can for Kennedy. She’s flown over 15 times, she’s been to Disneyland, she has swam with dolphins, fed giraffes, she’s been to the cinema and theatre. We want to give her as much independence as possible.”
The family have been supported by The Sandcastle Trust.
“The charity recently arranged for us to stay in the Cbeebies Hotel at Alton Towers which Kennedy loved,” Paul says. “She loved all the rides and meeting her favourite characters from the telly. The Sandcastle Trust do fantastic work with adults and children to try and create lasting memories.”
In 2016, Paul and Jeannette had a second daughter Marli, now aged three, after having pre-implantation genetic diagnosis (PGD) at Guy’s Hospital in London. This is a type of IVF which meant doctors were able to rule out the possibility of their baby having SMA Type 1.
“The doctors had to take DNA from all the family but the doctors could tell us with 99 per cent certainty before putting the embryo back in whether it was going to be SMA positive, an SMA carrier or have no SMA at all. We know Marli is a carrier, but we knew before she was born that she wouldn’t have the disease. The two sisters are as close as they come. The love they have for each other is second to none.”
Jeanette also has three elder children from a previous relationship, Courtney, 22, Kelsey, 18 – a regular on The Only Way Is Essex – and Bill, aged 19.
“We are not your average family but we are a very happy one,” Paul says. “Of course, I have spells when I 
worry about the future. Most parents who look after a child with a rare genetic condition sometimes worry about what tomorrow might bring, especially if you are dealing with a condition where the life expectancy is two years or less. We know we could lose her at any time.
“We try not to think too far ahead any more, we live in the present. We try to make sure that every day is the best it could have been. I look in the mirror every night and question whether I have done the best for her that day. I feel blessed to have Kennedy. I may have saved her life many times but she has also saved me. My life is completely different now. I don’t worry about financial rewards, eating in nice restaurants or buying nice clothes. What matters to me is seeing my daughter happy. Of course, life can be hard sometimes, but I wouldn’t change her for the world.”
Tilly’s Story
“Our little girl Matilda, Tilly, was diagnosed with Rett Syndrome in March 2018.
Tilly had developed normally until she was one, with no concerns whatsoever, but then started to gradually lose her skills.
Rett is a rare genetic neuro-developmental condition affecting mainly girls leaving them profoundly disabled.
Rett means Tilly cannot walk, talk, use her hands, transition between postures, and needs 24-hour life long care for every single need.
To say the news was devastating is an understatement and it has had a huge impact on our family – me, Tilly’s dad and Tilly also has a three and a half year old sister Thea, who we try and ensure is unaffected as much as possible by the diagnosis.
During the first few months we were left reeling, and bad news after bad news kept on coming at her various appointments; she may need a feeding tube, she might not walk and intellectually, she may not exceed the age of a 2 month old.
When Tilly started to have seizures and tremors things became really tough for our family.
So, when we discovered The Sandcastle Trust after looking through a handout given to us to find funding for a pushchair, we decided to contact them.
Through the Sandcastle Trust we were able to have a fantastic break in North Yorkshire, a day after a really important meeting to discuss Tilly’s educational needs.
We stayed in a brilliant caravan and had three days just us as a family, taking time to process what had happened, just get away and make it fun for Tilly and Thea.
They both loved it; we went to the children’s disco, the beach, the swimming pool which was amazing and everything was geared towards the children. It was a holiday we would never have taken and we loved it that much I am sure we will go back.
Tilly’s symptoms are now manageable, but every time we go anywhere we need to blend all her food, take all her medication, and equipment, and make sure she has everything she needs so she doesn’t get distressed or upset.
The place we stayed in was huge and so it meant that we could take along everything we needed.
A year on from her diagnosis, Tilly is thriving. Although Rett has had a significant impact physically, there is nothing to suggest that she is not the same age mentally as other two and a half year olds.
Going on this break took us away from the seriousness of everything, helped us gain a sense of hope and peace restored, which gave us the strength to carry on. The Sandcastle Trust made that possible for us and I will be forever grateful.
What The Sandcastle Trust do is give you space to be able to get away as a family and breathe. That is what we needed to be able to step back into the uncertainty of life and what it now means for us.
Thank you Sandcastle Trust for supporting us it meant and means the world to us.”
Jacob’s Story
When their baby son Jacob was diagnosed with a life-limiting genetic disorder parents Gemma and Kevin Rimmer knew their world had changed forever.
Gemma, from Liverpool, says: “We realised our gorgeous boy would need 24-hour care. I had to give up work as a hairdresser. Kevin had to leave a good job on the railways for something more local. Alder Hey Hospital became our second home.
“For the first few months of Jacob’s life his older brother Joel was passed from one family member to the next while we sat by Jacob’s hospital bed.”
The idea of a holiday or a day out seemed completely unattainable.
Gemma says: “Kevin became a taxi driver so he could be near us in an emergency. Our income reduced considerably and all our spare time was spent entirely on the boys.
“So when the Sandcastle Trust offered us a break it was absolutely magical to be able to take them away for the night.”
The charity gave the family a trip to Alton Towers so Jacob, now three, and Joel, six, could visit CBeebies Land there.
Gemma says: “Seeing the excited looks on the boys’ faces at the CBeebies Live shows was something I will always remember. We stayed in the Mr Tumble room which is Joel’s favourite.”
When newborn Jacob was just two days old he suddenly stopped breathing. He was rushed by ambulance to Alder Hey Hospital in Liverpool and hooked up to a life-support machine. He remained in a coma while doctors urgently tried to figure out the cause.
Lumbar puncture tests showed his glycemic levels were high. Doctors diagnosed Nonketotic Hyperglycinemia (NKH).
Gemma says: “They told us Jacob would need a lifetime of care, he could have as many as 24 seizures a day. They told us to summon our family to say goodbye and suggested we switch his life support machine off.
“We knew we wanted to keep him alive. We felt that if he had wanted to die he would have gone before the ambulance arrived at our house.”
Jacob deified doctors’ expectations and eventually started feeding from a bottle. At three months the family were allowed to take him home. He now smiles and giggles, can say a few words, loves watching CBeebies and is learning to use a ‘switch’ toy to increase his motor skills.
NKH causes epilepsy, global mental delay and stomach problems and Jacob also has cerebral palsy. The family continue to spend long periods in hospital.
Gemma and Kevin have become used to the routine of caring for him.
Gemma says: “Jacob rarely sleeps so we take turns being up in the night. He is fed through a peg in his stomach. His first meal is at 6am. I give him all his medication at 8am while I’m getting Joel ready for school. Then Jacob will have a feed every four hours, four times a day.
“Nappy changing is always a fight, he rolls away from us.
She adds: “Someone said to me the other day “you don’t look like you any more”. I used to wear make-up and always have my hair done but I just don’t have the time now. I can’t remember the last time Kevin and I went out as a couple.”
The Sandcastle Trust has also helped Jacob and Joel visit Father Christmas in a local grotto two years in a row.
Gemma says: “With Jacob we take each day as a blessing so it’s always bittersweet to visit Santa, it marks another year he has survived.”
Cally’s Story
Mum Cally Benvie, 30, from Broughty Ferry, Dundee, is a wheelchair user after being diagnosed with the degenerative genetic disorder Friedreich’s Ataxia as a teenager.
She enjoyed a blissful weekend Center Parcs in Whinfell Forest, Penrith, with partner Alan Moffatt, 33, an NHS porter, son Jay, 10, mum Jill, a nurse, and her mum’s partner George.
The trip, organised by The Sandcastle Trust, enabled her family to be just that, a family and not have to worry about Cally’s disability for the first time in a while.
Chatty Cally says: “It’s not often I’m speechless but the holiday was so incredible I am lost for words. It was the first family break we have had since I had to use the wheelchair full time.
“I’m crying as I say this. A lot of Alan’s attention has to be on me but going away with my mum meant Alan and Jay could do whatever they wanted without having to worry about me. Jay could come first.
“It was fantastic as a mum to see how much enjoyment my son got out of the weekend. It felt like we weren’t focused totally on me having
a disability we could just focus on being a family. It was magical.”
Friedreich Ataxia causes progressive nervous system damage and impaired muscle coordination that worsens over time. It was Cally’s dad who first spotted there might be something wrong with his daughter’s movement.
She explains: “Dad lives in Wales so I didn’t see him regularly. I was visiting him and he asked me ‘What’s wrong with your legs? You’re walking strangely.’
“I hadn’t noticed and told him not to worry but he was so concerned he insisted I saw a doctor when I got back to Scotland, which I did.”
Suspecting a brain tumour, Cally’s GP sent her for an MRI scan straight away. The results were negative so the doctor sent Cally’s blood for genetic testing. She recalls: “I thought I might have something I could take a tablet for and it would go away, something manageable. But it wasn’t.
“The doctor told me it was Freidreich Ataxia then gave me a leaflet he had printed from the internet and a website address.
“I’d never heard of it and didn’t think too much of it. I had my lunch and went back to work.”
Cally Googled the condition. She says: “That was a mistake. Google had me dying in a couple of years, it still didn’t sink in. My mum was doing the same thing and was horrified. It was when I told my mum and she got upset that I realised it was more serious.”
Cally had only just met Alan at the time. She recalls: “19 is an awkward age to be told you have a life-changing condition. Alan could have walked away then and there but he’s stuck with me. He’s been a great support.
“I don’t think I would be doing as well without him. He’s a really good listener. I found a good one there.”
The first time Cally remembers FA impacting her came a couple of months after her diagnosis. She says: “I met Alan on a Friday after work. The doorman at the bar where we were going said: ‘You’re not coming in, you’re too drunk.
“Then he said to Alan: ‘You need to get her up the road pal. She’s had too much.’
“I explained I had come straight from work and hadn’t had a drink. I was angry he wouldn’t speak to me but over my head to Alan. He wouldn’t let me in. He said I was making it up. It would have been a bit of a thing to make up.
“I’ve never been back there.”
“Now my balance and coordination aren’t great and my speech can be quite slurred. It’s got worse over the years but because I use the wheelchair all the time now everyone knows I’m not drunk.”
Jay was born in 2011 and the family have learned to live with Cally’s condition. Cally says: “Jay is very understanding and a big help around the house when Alan’s at work, small things like getting something from the fridge or closing the blinds. He is always happy to help me.
“When he was younger he would just tell his mates ‘my mum’s a bit wobbly’ and they would carry on playing. I’ve found children are a lot more accepting than adults.”
She says: “I can’t walk by myself any more but we get by. We live in an adapted house with a ramp. I use a wheelchair all the time in the house.”
“My condition is progressive but I am quite a positive person. Like everyone you have the odd day when you’re not doing so well.”
Cally was furloughed from her office job during lockdown. Researching an accessible holiday to cheer the family up she stumbled across the Sandcastle Trust. She recalls: “Most charities are based around children, certainly ones for genetic disorders. But my disorder impacts my family.
“I was tearing my hair out with homeschooling. It was so lovely and reassuring to talk to Danielle from the Trust, she understood.
“She suggested Center Parcs and kindly agreed that Mum and George could come too.” 
The family travelled in July 2021 at the start of Jay’s school holiday.
Cally says: “After Covid it was amazing to be away from home. It was like a dream.
“My mum and I don’t get much time together but we got to have afternoon tea. The boys went swimming without the additional pressure of me in the wheelchair.
“Alan and Jay are very good, they would never say I’m an issue but they could have quality time together.
“We stayed in a wheelchair-adapted lodge. All the counters were at my level. The shower had a shower chair, my bed was a hospital bed. We didn’t have the hassle of bringing any additional disability things with us.
“It was the most incredible weekend. If I was a millionaire I would be there every week.
“Jay loved all the activities, there’s wildlife, tennis, badminton, shops and restaurants. But his fave things were the nights we were back in the lodge and we played board games and ate pizza.
“We would recommend it to anyone. The staff couldn’t do enough for us. They took my disability seriously but it felt really, really safe and still like a holiday.
“Words aren’t enough to explain how grateful we are to everyone at Sandcastle.”
Alfie’s Story
Alfie O’Brien, 13, was born with a rare genetic eye condition, which means he has no vision. He also has autism and complex behavioural needs, including extreme self-harming.
In July 2021 Alfie had surgery to remove an eye and after recovering from the operation he wasn’t able to return to his special needs school.
This isolation from school routine and his friends hit Alfie hard, especially following on from school lockdowns during the coronavirus pandemic. For Alfie in particular, structure, routine and contact with his peers help with his autism and behavioural needs.
Such a difficult year led to trauma for the teenager, an escalation in self-harming and was hugely stressful for Alife’s parents Cara, 41, and Stephen, 45, who live in Liverpool. Alfie has a range of health issues. He can walk with a cane but needs to use a wheelchair for longer distances. He has a feeding tube and is incontinent. He also has global development delay, speech delay and sleep disturbances. His parents care for him full time.
Cara says: “Alfie has no vision at all as a result of the genetic eye condition Leber congenital amaurosis. He also has severe self-harming and part of that means he pokes his eyes. He damaged one eye through poking, the retina detached, and he had eye removal surgery in July 2021, an horrendous operation. He was then excluded from school, and I can’t explain how broken our family was after. He was traumatised from not being to say goodbye to his friends and he also kept saying ‘I want a new eye’.
“The Local Education Authority applied for a school within a three-mile radius and all turned him down because of his complex needs. It broke my heart to see him out of school and the most challenging part is watching your child hurt themselves. He was self-harming all day, it was relentless; head butts or kneeing himself in the head. He is quite a frustrated little boy and a lot of it is through lack of communication. He also poked his ear so badly – to shut out sensory noise – he was at risk of damaging his hearing. It is a fear of mine that he will become deaf as well as blind.”
After such a difficult year, Cara, who also has two daughters Anya, six and Lauren, 20, was determined to make Alfie smile when he celebrated his 13th birthday in March.
Searching online for special magical days out and memories for children, Cara came across information about The Sandcastle Trust which provides support and memory making trips and experiences for families living with a rare genetic condition. Our aim at The Sandcastle Trust is to help families build lasting positive family memories, strengthen their family relationships, and improve emotional wellbeing and resilience.
At The Sandcastle Trust we discussed with Cara what would help Alfie relax and have fun at home, a sensory toy or piece of equipment that could fit in with family life. We suggested the TFH Foldaway Swing Frame, which is a piece of garden equipment robust enough to take up to 140lbs and can be folded away for storage. It arrived in time for Alfie’s 13th birthday and the family were treated to plenty of birthday smiles!
“The swing is just amazing,” Cara says. “It is great to see Alfie smiling as he swings and spins! We never thought that The Sandcastle Trust would gift us this. He loves the movement of the swing and the spinning – when he was younger he loved fairground spinning cups. Our occupational therapist says the spinning action gives him a sensory feedback. Alfie also uses it as a bed, he likes to chill out in the garden and listen to the birds. We spend a lot of time at home so this swing is amazing to have. What is also great is we can fold it up when we need to, as we have a small garden.”
Cara adds: “Alfie has just started in a new school (July 2022) and although it is going to take a long time to work through his trauma, he is so happy to have a school now. We are rebuilding on the trauma with lots of cuddles, physical and sensory stimulation and we have seen a change in Alfie’s behaviour.
“He is a lot calmer and he smiles more. He has an amazing sense of humour, he is so funny, loves listening to music and he loves cuddling. We can take him out of the house a little. Before we couldn’t leave him alone with his little sister Anya, but now they cuddle all the time and even had a sleepover. Slowly, slowly we are getting there, and I hope it will improve.”
