An open letter to my MP

Published September 10, 2015 by swanfreddie

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 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.

Yours sincerely,
Hayley Gwilliams

Please note: if you require any further information about the APPG please contact Emily Muir at Genetic Alliance UK,


Sometimes I wish

Published March 6, 2015 by swanfreddie

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 walk

Sometimes I wish you could run

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.

Freddie’s new bedroom

Published February 24, 2015 by swanfreddie

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.

School progress

Published February 5, 2015 by swanfreddie

It’s been such a long time since I got time to properly update Freddie’s blog, life has been very busy lately. Particularly since the arrival of Freddie’s baby brother and Freddie’s dad being out of the country for a few months.

It’s been a fairly hectic week for us with 4 days full of appoinments. Freddie’s had an appointment with the paediatrician, been to see a specialist dentist, had an eeg scan as well as several other appointments and discussions about possible upcoming surgeries, feeding regimes and epilepsy care plans .

Today we had a meeting at Freddie’s school to review his EHC plan. An EHC plan is a legal document that describes a child or young person’s special educational, health and social care needs. It explains the extra help that will be given to meet those needs and how that help will support the child or young person to achieve what they want to in their life.

The EHC plan was first done in July 2014 where we set Freddie a list of short term goals and 3 bigger long term goals we would like him to achieve –

  • For Freddie to become independently mobile
  • For Freddie to develop some independence skills
  • To develop a functional communication system in order for him to signal his choices, preferences and needs.

Today we met with Freddie’s teachers, his nurse and social worker to discuss these goals & make any changes to Freddie’s EHC plan. We kept the above long term goals as they were and will we all continue to work with Freddie to help him achieve these. Some new short term goals have been added to make small changes to his school life mainly focusing around his new epilepsy plan and keeping him hydrated.

It seems that Freddie has settled in well at his new school and is happy in his new environment. He seems to be making new friends with the children in his little class and has used his charm to make all the staff fond of him.

The main feeling from the meeting is that Freddie is doing amazingly well. So well in one particular area that even I was surprised and almost reduced to tears during the meeting. We got to watch a video clip of Freddie in action at school, it had various photos of him playing and one video at the end that makes my heart swell with pride. My boy moving his feet in his walker!!. I’ve watched it several times now and every time my eyes fill with tears at what an incredible little chap my Freddie is. Watch it for yourself!


Published November 7, 2014 by swanfreddie

Freddie has a condition called Amblyopia, which means he has poor vision in one of his eyes. As Freddie’s left eye has a convergent squint (eye points towards the nose) his brain receives two very different images from his eyes that cannot be combined. This has caused the brain to ignore images from the squinting eye and rely solely on the right eye to see. As a result, the vision in the left eye has become very poor. To try and help the vision in Freddie’s left eye we have to patch up his good eye to encourage the brain to begin using the left one more. For over a year we have patched Freddie’s eye for short periods, of up to 10 minutes a day. Today we had an appointment with Freddie’s orthoptist and she has asked us to try and increase the amount of time Freddie wears the patch to 4 hours a day if Freddie will allow us to. This will continue everyday for the next 3-4 years. Without this amount of patching Freddie will eventually go blind in the left eye so it’s become very important that we try to find ways of getting Freddie to tolerate the patch for as long as we can. The patching will only help restore some of the vision in Freddie’s left eye and he will never fully be able to see out of it nor will it ever get rid of the turn in Freddie’s eye. Freddie’s limited understanding makes patching his eye very hard. We are unable to explain to him why we are covering his good eye and understandably he gets very distressed. He absolutely hates the patches being put on and I feel horrible pinning him down and making him so upset. But we are ultimately left with a choice between him being upset or letting him go blind in one eye. At the appointment we also discussed the possibility of operating on Freddie’s eye to bring it back to looking forward. But the operation will not improve the sight in Freddie’s eye and is purely cosmetic. The idea of putting Freddie through another operation for a cosmetic reason seems fairly pointless and we are happy with the way he looks. Over the next few weeks we will be gradually increasing the amount of time Freddie spends wearing his patch from 10 minutes to hopefully 4 hours, or as long as Freddie will tolerate. Today he has managed 20 minutes wearing it, I managed to distract him with some of his favourite books. image

Another weekend

Published October 12, 2014 by swanfreddie

This weekend we had the best time. On Saturday we were all up early so we decided to go on an impromptu trip to the beach. Evie & Freddie quickly threw on some warm clothes and we jumped in the car. The sun was just rising as we arrived so we took a walk along the sand watching it. Evie and Freddie spent hours building sandcastles and having fun together. Then we came home and decided to watch a family dvd. Typically Evie and Freddie squabbled over what to watch but they did eventually agree. So we snuggled under blankets with hot chocolates all afternoon.
On Sunday we decided to stay home and bake cakes. Evie choose princess cakes and Freddie spiderman. While the cakes cooked Evie & Freddie went into the garden to play on their bikes and trampoline. In the aftermoon we did some arts & crafts and then watched another family dvd before bed.

But this weekend wasn’t real. It was just my dream weekend. A normal, relaxing family weekend.

Our weekend was very different to this. It was very set and scheduled and ruled by Freddie. Our weekend consisted of prepping and administering 14 daily doses of Freddie’s medicines, endless bib and nappy changes and feeding Freddie all his meals and milk. We did physio and tried to find different things to keep Freddie entertained…which is very hard  We tried to play games but Freddie kept crying and needing constant attention so we soon stopped playing them. We did put a family dvd on once Freddie went to bed but we paused it well over ten times to go and resettle him as he didn’t want to sleep. We never left the house as it’s just easier to stay home. Infact I can’t remember the last time we went out as a family.

This is a pretty standard weekend for us. It’s been the exact same routine for as long as I can remember. Medicines, food, milk, sleep at the same time every day. No opportunities to enjoy the family activities you want to. The things you imagine yourself doing with your children. I often think how nice it must be to just watch your children play together in the garden or sit with them and just watch a film together. What life must be like to not be constantly caring for a child. To be able to leave the house without forward thinking and planning. To not have to constantly be clock watching so you don’t miss medicine times.To just be able to be happy. To not be stressed and tired constantly. For life to not feel so hard.

I often go through times where I lose my acceptance of having a child with disabilities. Where I suddenly find it really difficult to manage. I often find myself watching Freddie wondering what he would of been like if he was born without a syndrome. What type of toys he would of liked and what he would of enjoyed doing. Would he of liked football and riding his bike? I wonder what his personality would be like and what his voice would sound like.
I will get my acceptance back. I will stop looking at Freddie and wanting to cry for him. For the life he won’t have. I will go back to being positive about the future Freddie has.
None of this means my love for Freddie changes. Freddie is an amazing little boy who brings a lot of happiness to our lives.
Life at the minute is just hard with Freddie. But it will get better.



Freddie starts school!

Published September 11, 2014 by swanfreddie

It has taken months of planning and endless meetings and paperwork to get everything in place ready for today…Freddie’s first day at school!

For 3 days a week Freddie will now be attending a school for children with severe and profound learning and physical difficulties. It’s an amazing school and we are really excited to see how much Freddie will progress being there. They have some great facilities he can access like the hydrotherapy pool and the sensory rooms.
Freddie’s school isn’t in the local area so i’m unable to take him there myself so instead he will be picked up and dropped off by a school mini bus.

So at 7.50am this morning Freddie had been fed, dressed, had his medicines and was outside in his pushchair awaiting the bus. And this was where the day got off to a horrible start!


The school bus arrived and the plan was for Freddie’s pushchair to be strapped to the floor of the bus. But neither the driver nor the bus escort knew how to do this… How a company can be employed to transport vulnerable children to and from school and not even know how to secure them to the vehicle properly is ridiculous!! And leaves me massively anxious that they are not properly trained to look after Freddie while travelling to school.
Freddie was upset getting wheeled onto the bus as the ramp was very noisy and he struggles to cope with loud noises but after having to wait for 30 minutes!!!! for his bus driver to get him strapped to the vehicle(and even then they couldn’t work out how to use the right strap that they were supposed to) he was not a happy boy. Our neighbours weren’t happy either as the mini bus blocked off our road for 30 minutes while they sorted this out and there was a queue of traffic unable to get past! Not the best start to the day.


Once at school Freddie sounds like he’s had a good day! He’s mainly spent today settling in to his new classroom. He’s been getting to know the children and all his teachers and having singing time. Other than getting upset at the noise the other children were making(think we may have to send his ear defenders in) he’s had a happy day.

He arrived home at 4.30 and after 10 minutes of the driver struggling to get the ramp to work to get him off the bus we were able to have a big cuddle. He was very tired and grumpy but soon cheered up once his music went on and he had a good dance!


I’m looking forward to seeing what he gets up to tomorrow and watching his progression through school!




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