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We have just got back from a lovely family holiday. We’ve been staying at a wonderful place called Ellie’s Haven. They are a charity providing holidays to families caring for children with long term and life limiting illnesses. You can read more about Ellie’s Haven here – http://www.ellies-haven.org.uk/index.php

Dear Ellie’s Haven
 Thank you for our holiday. Thank you for allowing us to do something I never thought we would be able to do. To be able to come on holiday with all 3 of my children and for it not be a disaster. Thank you for equipping your house out so well with all the equipment needed to care for children like Freddie. It made our holiday so much less stressful. It meant we didn’t have to worry about where Freddie would sleep safely or how we would manage him up the stairs or in the bath. Everything we needed to effectively manage Freddie’s ever growing needs was here.

Thank you for allowing us quality time together as a family. For allowing us to make precious memories. Memories that we will forever cherish. Thank you for giving my 3 children the chance to do what other families do, to have a holiday. The excitement and smiles on their faces as we entered your house was priceless. Thank you for the amazing sensory room we had access to. All of the children loved spending time in here, we all got to enjoy it together as a family. Thank you for then turning the sensory room into a cinema so we could watch a film together. A trip to the cinema is something we would never normally get to experience due to Freddie’s needs.

Thank you for making your garden wheelchair friendly. We spent a lot of time outside where all the children had fun. Freddie enjoyed being pushed around and was really happy as the wind blew through his hair.

Thank you for allowing us to escape the hardness everyday life can bring for us. To leave the stresses of hospital appointments and fights for appropriate care and equipment behind. Thank you for giving us the opportunity to leave our house, we often find Freddie’s needs leave us isolated and confined to our home. Thank you for giving us this freedom. Thank you to everyone at Ellie’s Haven for being so inspiring. Every day I looked at the photos on the wall of your two precious children, Thomas & Ellie, and felt so much respect for you. To have lost 2 of your children so young and to use your experience of this to create Ellie’s Haven is such an amazing thing to do.

Thank you for the memories, the smiles and the laughter. Thank you for Ellie’s Haven.

“A special place for special children” We recently were lucky enough to be able to share Freddie’s story in the media. We had an article in the local paper & a feature on the regional news & radio. The reason behind this was that the 29th April is national undiagnosed children’s day and we wanted to do our bit to raise awareness. It’s a daunting experience sharing a story so personal with the media. Telling your story to a journalist who will then retell it to their audience is quite a scary situation to find yourself in. What if they don’t tell it properly? What if we end up coming across badly? What if they missed out vital parts of our story? All the questions that went through my head as I agreed to let people into my home to interview and record my family. Luckily the journalists did a great job of highlighting what being undiagnosed if all about. But there’s only so much time that can be spent telling one families story so obviously only a small part of your life can actually be told. So as grateful as I am for the time that has been spent by various people listening to Freddie’s story and helping us tell it to a wider audience I feel like I need to do this blog to fill in the gaps. To fill in the parts that weren’t mentioned.
Before we agreed to do the news feature we spoke to them about what kind of information they wanted on Freddie and this was the kind of things they wanted to know –

1. Tell me a bit about Freddie and how his condition affects him.
Freddie is 5 years old now and as soon as he was born we were aware something wasn’t quite right. He didn’t present as a typical child would, his facial features and the way his body looked were’t quite as you’d expect. A few hours after birth we were told he more than likely had some kind of syndrome and the doctors would perform some tests on Freddie to see what exactly was going on with him. And since that day we have no answers as to what this syndrome is. It stops him from being able to walk or talk, he has feeding issue with a feeding tube in his tummy, takes up to 14 medicines a day, is beginning to develop a curve in his spine, has epilepsy as well as a long long list of other health issues. He needs 24/7 care. He is unable to do any aspect of his care himself and relies solely upon us to help him and I suppose keep him alive.

2. How does not knowing what his condition is affect any treatment he can have and how you care for him.
Not knowing what Freddie has means we can only treat what we know about Freddie. We can treat his epilepsy with medicines and keep him growing by feeding him via his feeding tube but we can’t be prepared for anything that may come in the future. When you know what syndrome a child has you get some kind of idea as to what you can expect, they may develop heart issues so that can be closely monitored or they may have kidney or lung problems so these things can be kept an eye on so with Freddie we just aren’t prepared for what may happened.

You also find support harder to access as without a diagnosis theres often the assumption that it can’t be that serious, how can it be if theres no name for it? Every form you fill in the first question you will have to answer is what is the childs diagnosis, it can be very frustrating.

3. Is it difficult to plan for the future.
We have absolutely no idea what the future holds for Freddie. If he will walk or talk. If he will deteriorate or if sadly his live expectancy may be shorter than average. without a diagnosis we are very much in the dark as to what to expect from Freddie. And that’s scary. We assume he will for the rest of his life need 24/7 care so we plan our future based around that. We live in hope that we will see Freddie walk or for the day we hear him say mummy and daddy but we just have no idea if this will ever happen. We just hope he continues to be as happy and healthy as he can be.

4. how does it affect family life
Our family life is hugely affected by Freddie, possibly more so than we realise. Our lives have been this way for 5 years so we know no different anymore. It’s not until you see other families going on holiday or down the park that you realise these things are just becoming impossible for us. Sadly the world wasn’t built for disabled people and it isn’t until you’re on this journey that you actually realise this. You very rarely come across a park with equipment for disabled people or a toilet with adequate hoists and changing table for bigger children. So we struggle to go anywhere. In the past we’ve had days out and sadly we have had to change Freddie’s nappy on a dirty toilet floor, which no parent wants to do. We often find ourselves going out as half a family, one parent  will stay home and care for Freddie while the other one takes out our other children. And thats hard, we want to be a family.

Having Freddie also greatly affects the time we get to spend with out other children. We try to give every one as much attention as we can but Freddie’s needs are so high that he has to come first. We can’t miss his medicines or leave him without food, so sadly our other children have had to learn to be a lot more patient than perhaps other children would be. We did use to have respite for Freddie that allowed us time to concentrate on Evie and casper but unfortunately for the last two months we have been without this and it isn’t looking like its being sorted anytime soon.

5. is there enough support for Freddie and yourselves and other families with children with undiagnosed condition
When your told you have a child with a syndrome the first thing you want is to know why and what this actually means. When you’re told there are no answers your massively scared. How can no-one know why my child is so ill? We were in and out of hospital constantly with over 15 doctors and therapists trying to help and treat Freddie but know one actually helped us deal with the lack of information. We were left scared and feeling isolated like I think any parent would. I tried to join various support groups for children with health issues but we never quite fit in, all these children had a diagnosis and I just couldn’t understand why we didn’t. Luckily I managed to find a support group called SWAN UK (syndromes without a name) They specialise in supporting families with children who have no diagnosis. Without the support from all the people in this group I honestly don’t think id of been able to deal with Freddie as well as I do now. They gave me the strength and help that I needed. Every parent who leaves the hospital being told their child is ill but the doctors aren’t sure why need to be told that there is support for you at SWAN UK. Having a disabled child is tough, but when you know your not alone and there are people to speak to it does help. Last week we tried Freddie out on a bike. It’s a specialist trike designed especially for children who have additional needs and require extra support. We tried him on one a few years ago when he was 2 but decided to not purchase one and to wait until Freddie was slightly older. So Freddie was measured and the bike was set up to give Freddie enough support so he was comfortable but also they made sure he didn’t have too much support so his muscle would be working as he rode. Freddie loved it! We loved it. We were excited by the prospect of our son finally getting his first bike. But then the quote came through for it, and this is where things get so frustrating. The quote is £2440. Now we knew it would be expensive, we’ve lived in the disabled world for long enough to know an extra 0 gets added on to the end of every product.
We were hoping to get the trike for Freddie’s birthday, but with 6 weeks to go until he turns 6!! this is looking unlikely. It’s not as simple as it is to buy for Freddie as it is our other children. Freddie sister Evie recently turned 7. Now she was easy to buy for she knew exactly what she wanted and other than hitting my bank balance by a few hundred pounds it was easy. With Freddie we can’t just do this. We can’t go to the toy shop & buy Freddie’s bike. We can’t do anything for Freddie anymore without the help of others.

Freddie is in desperate need of a new carseat. Unfortunately standard car seats aren’t suitable. So in order for us to equipped Freddie out with the right kind of car seat we have to have him assessed, which takes time to sort. Then find the £2000 required to pay for it. Now i’m not in a financial position to pay out for things like this. So we have to approach different charities to ask for help. And this is time consuming. It can take months to sort by the time you have provided the evidence they require to prove your child is disabled, then you have to prove financially your not able to contribute towards the costs then lastly you have to have a supporting letter from a medical professional to agree that this product is required and suitable for Freddie.

Freddie has also outgrown his current pushchair. We are in the middle of trying to sort a new one. But again this ends up massively out of our control. We have to be referred to wheelchair services who then assess Freddie and advise what they think is suitable. Now we massively appreciate the NHS, they have done ALOT for us, but they just don’t have the budgets needed to offer the equipment that children need. We are possibly looking at ending up in a situation where they can’t offer Freddie the right kind of wheelchair he requires, deserves and needs so we may end up having to go down the self funding route again. Which will mean approaching more charities to help us pay to get our son out of the house.

The next item is Freddie’s indoor chair. Again he has outgrown this and the wheels on the base of the chair are not suitable. We are told a new chair has been ordered but weeks later we are waiting on it to be delivered. Which isn’t a huge deal but it adds to the frustration that you can’t cater yourself for your own child’s needs. You can’t just go out shopping to buy him a chair like we do for our other children. We are always relying on other people to help us.

Realistically we are looking at over £10k to provide Freddie with the equipment he needs. Likelihood is he may not get his bike for his birthday. We have to fund the equipment he needs first and the carseat is our main focus right now. It’s incredibly hard to watch your child go though so much and then not be able to provide them with things to help make there life’s more fulfilling. In the past 6 weeks alone he’s had 2 operations and 2 chest infections. Now it’s time to see him smile, and he didn’t half smile on his bike.
I’m aware this post isn’t the happiest! It’s just reality for us right now. But i’ll leave you with a few photos of Freddie on his bike to cheer the post up 🙂 It would seem Freddie’s blog has been very neglected lately. With a 6 year old, a 5 year old Freddie and an 18 month baby life is pretty hectic. Add to that a puppy and a husband who spends more time out of the country than at home blogging has taken a massive back seat. So with a rare 30 minutes of peace I’ve quickly put together a post. The spelling may well be awful and I’m definitely not going to be winning any awards any time soon for my style of writing but I managed to write something down, which I’ve struggled to do for a long time.

With Rare Disease day coming up on the 29th February it has really got me thinking lately of where we are up to with Freddie’s diagnosis. We are now nearly 6 years into the search to find out what causes all of Freddie’s issues and are still left with no name.
Basically we have a child who has seen hundreds of doctors since birth. They know he is unable to walk, unable to talk or function and thrive like a human is supposed to. But they just do not know why. We just know that the syndrome Freddie is likely to have is going to be rare, hence why it is so hard to diagnose.

The hope is, we eventually get a diagnosis for Freddie and it may help to give us an insight into why Freddie is disabled and ways we could help him overcome a lot of his issues. It will hopefully give us an idea if anyone else affected by the syndrome has gone on to walk or talk and has lived into adult hood. But we may actually end up with a diagnosis that so little is known about we will still be left with many unanswered questions about Freddie.

As important as it is for us to find out the name of Freddie’s syndrome I must admit over time you do forget about it. In the early years any hospital appointments were attended with anticipation of getting a diagnosis. Every letter posted through the door was opened in hope of news. But it never came. So slowly over time we had to stop thinking about it. We had to stop spending hours googling every possible issue Freddie had in the hope we may be able to diagnosis him ourself…Something which I really don’t advise any parent to do! Google is very good at turning any symptom in to a deadly disease.

So for now we just treat Freddie based upon the information we do have. And I expect even when we do have a diagnosis I guess not a great deal will change in terms of how we deal with Freddie. Unless of course there’s a miracle cure that will suddenly make his legs work, his speech suddenly appear and all his other issues disappear.

Treating Freddie lately has stepped up a little lately due to him very rapidly growing! He is now a big, heavy 5 year old who is incredibly hard to carry or lift. Which is actually causing us alot of problems. This was a big fear of mine when Freddie was younger…how do you manage once they become too heavy. I strain my back alot to lift Freddie. I no I have to keep lifting him to a minimum, but when you have other children to care for you find everything just has to be done as quickly as possible.
The idea is I hoist Freddie into his chair …the reality is lift him into his chair while an 18 month old hangs off my leg.
Bath time is supposed to be done using a hoist and sling…but reality is lifting him quickly into the bath is so much quicker and straightforward than trying to hook Freddie up and hoist him in, with again an 18 month old hanging on to you and a 6 year old desperate to use the hoist remotes.
Even playing at home has becoming pretty hard lately. We try to include Freddie in everything we do and play but when your other two children are jumping and sliding off big soft blocks trying to lift Freddie on top of them and help him slide off is pretty taxing on your back.

Freddie has also outgrown all his current equipment so we are in the middle of trying to sort out a new indoor chair for him, a new wheelchair and sleep system. Hopefully all of which will make life slightly easier for us. Equipment like this is becoming ever more important to us as Freddie grows up as it enables us to keep his body in a good postural position and maneuver him around easier. Also we are hoping when he gets a new wheelchair he will be given a little bit more freedom to be independent and self propel himself around, something he is seemingly getting pretty good at at school.

As ever Freddie’s been keeping us on his toes lately with his hospital appointments. As soon as you get one crossed off the calendar it feels like two more arrive in the post. He’s going to be having a rough time in March as he’s unfortunately got to have two operations. One is hopefully just going to be a minor day patient operation but the other is 4 hours from home  with a few nights in hospital. I’m sure in true Freddie style he will bounce back as quick as he always does just with an extra couple of scars to add to his collection.

So for now as we wait in hope for our diagnosis along with the miracle cure, we have therapies to do, backs to strain and operations to be had. Dear Derek Thomas,

All party parliamentary group on rare, genetic and undiagnosed conditions

I am writing to you as my MP to ask you to join the All Party Parliamentary Group (APPG) on rare, genetic and undiagnosed conditions.

Rare, genetic and undiagnosed conditions are often life-long and serious, affecting multiple systems of the body. Many of them are progressive, meaning that the health and quality of life for affected individuals will continue to deteriorate throughout their lives and many of those affected will die prematurely. The vast majority of rare and genetic conditions cannot be cured and most have no effective treatments. Families frequently experience delays in gaining an accurate diagnosis for their or their loved one’s condition, and can struggle to access appropriate care and support. I know first-hand how hard this can be. My son, Freddie, has a rare, genetic condition which so far the doctors have been unable to diagnose. All we have been told is that he has a complex neurodevelopment condition.
At the age of 5 Freddie suffers with severe developmental delays leaving him unable to walk or talk or attend a mainstream school. He has suffered with feeding issues since birth so is partially fed through a gastrostomy. He takes 14 doses of medication daily to help control his epilepsy, reflux, constipation and excessive drooling. Freddie is now beginning to develop scoliosis due to his inability to control his posture correctly and is doubly incontinent. The list could go on. Freddie requires 24 hour care to maintain his high care needs. Living without a diagnosis is very isolating. It is hard to answer questions about my child and it can be very difficult for me to get my child’s needs taken seriously. I do not know what the future might hold for them – will they walk? Will they talk? Will they have a shorter life expectancy? Can you imagine how hard it is living with such uncertainty? That’s why I’m asking you to join this APPG and to use the group to press for improved diagnosis opportunities, which in turn may unlock access to effective medical care and treatment for my family, and others like us.

I am unlikely to be your only constituent whose child is affected by a rare, genetic or undiagnosed condition. It is thought that about 50% of children with learning disabilities and 60% of children with multiple congenital problems do not have a definitive diagnosis to explain the cause of their difficulties. Rare and genetic conditions are a significant cause of illness – 1 in 17 people will be affected by a rare condition at some point in their life (that’s approximately 5,000 people in our constituency alone) and 4 in 100 babies in the UK are born with a genetic condition. It is estimated that 6,000 children are born a year with a genetic condition that will remain undiagnosed.

The key aims of the APPG will be to increase awareness of rare, genetic and undiagnosed conditions in parliament and help to ensure that patients and their families, families like mine, who are affected by these conditions, have access to appropriate care and support.

The charity Genetic Alliance UK will be providing secretariat to the APPG, so please get in touch with them by emailing email@example.com or by calling 020 7704 3141, so that they can provide you with additional information.

I hope that you will join the APPG and dedicate a small fraction of your time to what is an exceptionally important subject.

I look forward to your response.

Hayley Gwilliams

Please note: if you require any further information about the APPG please contact Emily Muir at Genetic Alliance UK, firstname.lastname@example.org. Some days are hard. Not for any particular reason, just days where you suddenly begin wishing that everything was different. Days where you wish you could change things. Today was one of them days.
I watched as Freddie’s sister played a game as Freddie played separately. I wished you could play with her. I wished you could be laughing and enjoying a game together. Sometimes I find myself wishing a lot of things. Wishing things could be different…

Sometimes I wish you were OK

Sometimes I wish your body worked properly

Sometimes I wish you were able to do things

Sometimes I wish you could talk to me

Sometimes I wish you could say mum

Sometimes I wish you could play games with us

Sometimes I wish you could draw me pictures

Sometimes I wish you could write

Sometimes I wish you could read books

Sometimes I wish you could walk

Sometimes I wish you could run

Sometimes I wish you could cuddle me

Sometimes I wish you could kiss me



Sometimes I wish you could hold my hand

Sometimes I wish you could go to mainstream school

Sometimes I wish you would be invited to children’s birthday parties

Sometimes I wish you could use the toilet

Sometimes I wish you could feed yourself

Sometimes I wish I understood why you cry

Sometimes I wish you didn’t need medicines

Sometimes I wish you didn’t need tube feeding

Sometimes I wish you didn’t have so many hospital appointments

Sometimes I wish I could make it all go away…But I can’t

Sometimes I really wish one day ill wake up and you’ll be OK…but that will never happen.

Tomorrow will be better. These feelings don’t stay forever. Just some days are hard.

We have so much medical equipment in our house, a hi-lo chair, medicines, syringes, sleep system, bath lift, feeding tubes, as well as many other bit and bobs. The older Freddie gets the more and more equipment we seem to get and it  begins to take over the house a bit. Every room you walk in you see some kind of equipment. Just a little reminder that a small boy lives in the house with big needs.
As much as we dislike seeing the equipment and it constantly reminds us of the huge care needs Freddie has, we know without it we would massively struggle so we have come to accept that it’s just part of our lives. The only part that ever got me down was the state of his bedroom. It had become so clinical. A hospital bed, a hoist, a feeding pump, a standing frame, a sleep system. His bedroom wasn’t at all a child friendly room fit for a cheeky 4 year old boy. It was just a depressing reminder of Freddie’s disabilities.

So we decided we needed to do something to give him the room he deserved. We knew we needed the equipment, It was all essential to care for Freddie, but one thing I knew we could change was his bed.
From the moment his bed was delivered I hated it. We were incredibly grateful that the NHS had supplied Freddie with a suitable bed but it really wasn’t at all attractive. I wanted to cry once it had been delivered and it took up most of his bedroom. So after a bit of research and saving some pennies, Freddie now has a bedroom that’s more fit for a little boy. It still has a hoist and other equipment in there but the new bed has transformed his room. I no longer walk in and feel sad, It’s now a happy, fun place.
It has 2 big doors that open up to allow us to hoist Freddie in and out of bed. It can be locked everynight to keep Freddie safe. And the best part is underneath the bed there is a den that we have turned into a sensory area for Freddie to enjoy looking at his colourful lights & enjoy relaxing. A bedroom fit for an incredibly awesome little boy.

Freddie’s bed was built by a company called Andersons Themes and Dreams and can be found on facebook.


