Physio update

I assumed that once Freddie learnt to sit I could put a big tick in that developmental box and move on to focusing on his walking, but it would seem over recent months we are being drawn back to focusing on his sitting.

Freddie has always sat with a bad posture, he has weak core muscles(hypotonia) which is why he struggles to maintain a good sitting position. He either sits with a curved spine or almost in a half sitting/half laying down position, neither of which are good for his spine.

We had a routine appointment with Freddie’s physio this morning and we spoke about the ever growing concerns over his back. I feel that his sitting has been getting worse lately and the physiotherapist agreed that shes been worried for some time about it and his risk of developing scoliosis and thoracic kyphosis.
We do have an indoor chair for Freddie to sit in when he gets tired  but he still seems to be able to slump a little in it. So we decided that we would have another physio appointment this afternoon and she would bring out another chair we could try with Freddie to see if that helps him sit straighter.
Unfortunately the chair wasn’t right and Freddie very quickly slumped over.We now need to spend some time looking at what other chairs may be suitable for Freddie to help protect his spine.

Before Freddie’s physio left we came up with a plan to help keep Freddie’s spine protected. It includes doing some spine stretches daily and unfortunately means we  will be limiting the time Freddie is able to spend sitting independently.

It’s a bit of a blow for him developmentally as hes been doing so well with his bum shuffling and it’s so nice to see him have the freedom to be able to move around. He will now spend a maximum of 20 minutes on the floor before having to have a break and sit back in his indoor chair for 30 minutes. Even though his indoor chair isn’t quite giving the correct amount of support it’s alot better than his floor sitting position. There was also talk of looking to getting a back brace for Freddie.
It feels like we are stuck with either holding him back developmentally by stopping him being free on the floor or risk permanent damage to his spine. Not a nice situation to be in.

Undiagnosed Childrens Awareness Day

I knew on the day Freddie was born that he had a syndrome . As soon as I held him I knew something wasn’t quite right. He was very squashed and his ears looked a little unusual. I remember exchanging worried looks with his dad and we both went on to question the midwife , but we were assured he was just fine. He just needed to uncurl abit she told us. A few hours later our fears were confirmed and we were told that Freddie was showing alot of indicators of having a syndrome, although they weren’t quite sure what type. He was whisked off to the special care baby unit and this was where our journey into the world of genetics began.
Since that day Freddie has seen 3 different geneticists, each of them have prodded, poked and photographed Freddie. Making note of every unusual feature he has. Every appointment I have gone into with hope that this will be the day we get a diagnosis, I have hoped to leave armed with leaflets and information to help me understand what to expect from Freddie’s future but I’ve always left disappointed and with no answers.
There are so many reasons why a diagnosis is incredibly important to Freddie and our family and I wrote a blog post a while back about why a diagnosis is important to us. Without a diagnosis the future is a very scary place as we don’t know what to expect from Freddie, will he ever walk,  learn to feed himself or go on a toilet? Will he reach his teenage years and live interdependently? There’s a worry he may possibly go on to develop scoliosis and thoracic Kyphosis and there’s a risk his epilepsy could worsen and develop new types.
But I know that we may never get a diagnosis for Freddie and now he is a bit older I have learnt to except this alot more. I’ve stopped googling his symptoms trying to find out what he has and have turned my attentions to just embracing Freddie.
And here he is with lots of his achievements -

Learning to operate a switch toy

Clapping hands

Laughing

Playing games

Bum Shuffle

Learning to feed

Playing football

Tomorrow is undiagnosed childrens awareness day! Join us in celebrating children like Freddie by wearing pink or blue.

Fundraising for Freddie

Freddie was quite young when we got his first piece of funded equipment. He was under 1 years of age and we were struggling to bath him. I trawled the shops looking for an appropriate chair but nothing was suitable. Freddie wasn’t able to sit up unaided and all of the lay flat chairs that were in the shops were too small for him. I spoke to Freddie’s Occupational Therapist over our problem and she  managed to get us a big ergonomic bath chair which was perfect for Freddie. 
The chair unfortunately didn’t last long so we had to approach Freddies Occupational Therapist again to ask for something more suitable. She made us an appointment at the local disability and mobility aids center and we took Freddie along to try out a new seat.  It was an upright, corner seat that we could strap Freddie into.
Next came a specialist corner seat which helped Freddie to sit up for longer periods of time. It came with a table that allowed Freddie to play with his toys whilst sitting, something he struggled to do when just sitting independently on the floor. 
We then received a standing frame from Freddie’s physiotherapist to help him strengthen his legs and improve the strength of his core muscles.
As Freddie continued to grow his pushchair was becoming more unsuitable. He would struggle to stay upright in it and would often just slump over the side. We spoke to Freddies Occupational Therapist about it and she put our name down on the waiting list to visit the wheelchair centre.  We weren’t able to get the funding for a specialist pushchair until Freddie turned two so we had to make do until his birthday. Eventually we were given an Alvema Ito.
It was decided just before Freddie’s 2nd birthday that the corner seat was no longer suitable for Freddie. He was getting very big and heavy so we needed something that was more mobile and height adjustable.  In July 2012 we took delivery of an R82 Panda seating system. We were able to push Freddie around the house in it and change the height to suit Freddie’s needs. It also reclined so Freddie could sleep in it if he wanted.
Freddie quickly outgrew his standing frame so his physiotherapist  looked into getting him a new one.  In December we were given a new Leckey frame for Freddie. It was alot more suitable than the first and had a play tray to help keep Freddie occupied whilst he stood up.

In Freddies short life we have made our way through lots of equipment. We have been lucky enough that all the equipment has been given to us without having to push for it too much. But now Freddie is older and in need of more equipment we are finding alot of it isn’t available to us on the NHS.
Seemingly specialist beds and car seats aren’t seen as important equipment so they aren’t funded.  To buy a specialist bed for Freddie it will cost us alot of money, it could cost well over £5000. A specialist car seat that has a swivel base to help us get Freddie in and out of the car without damaging our backs could cost us up to £2000. 
We have asked if Freddie could have a specialist highchair as his current one is getting a bit small and isn’t really suitable for him. Unfortunately you can only get funding for one type of chair so, as Freddie has his R82 seating system we can’t have anything else and they want us to use that chair to feed him in too. I feel that it’s very important for Freddie to have a separate high chair and play chair. With Freddie having learning difficulties it’s hard to help him understand whats happening and what is expected of him and by having two chairs it allows him to know when it’s food time and when it’s time to play.

It’s not just equipment like this that Freddie needs, it’s also toys. Freddie does struggle a bit with the function of his hands. He has unusual index fingers and adducted thumbs and holds his hands fisted alot of the time. He will rarely hold a toy in them or play with anything that requires picking the object up.  Freddies interest in toys is very low and it’s hard to keep his attention on them. One thing he does love though is lights. Which is why we want to provide Freddie with a proper sensory room. He does have a few sensory lights but they are very basic and flimsy. A sensory room can cost alot of money, some lights can cost over £1000 alone.  A sensory room would be particularly useful for Freddie during the night time. Freddie doesn’t sleep like he should and, will most nights be awake from 3am onwards and not go back to sleep. Having a relaxing sensory environment would be the perfect place to have Freddie during this time and will hopefully help him relax and go back to sleep, or at least keep him quiet so he doesn’t wake his sister!

When you become a parent to a child with additional needs alot of decisions over equipment are taken out of your hands. You lose the freedom to be able to go down to the shops and purchase what you would like for your child, be it a bed, a chair or a toy. Everything becomes alot more expensive, more than most average families can afford. You find yourself worrying about how you are going to cover costs for items as a basic as a bed. There are several charities set up to help parents fund the cost of specialist equipment but having to approach a charity to help is a hard thing to do. 
As a parent you want to be able to support your children, to provide them with everything they need. There is a big part of you that feels like you have failed your child for not being able to provide them with their first bike or suitable toys to help them learn.
I’ve been contemplating for a long time now about fundraising for Freddie. I’ve put it off for such along time but i’ve finally taken the plunge and we hopefully have 2 events coming up in the next few months. The first event is going to be a sponsored walk in fancy dress outfits and the second will be an online auction. All money raised will go into a special bank for Freddie that we can only access when we require something for him.
By fundraising we feel, as Freddie parents, that we are doing our very best to support and provide for him. We will undoubtedly still have to apply to several different charities for help with our ever growing list of equipment but we are putting alot of hard work into the fundraising and will do everything we can to make sure Freddie has every piece of equipment he needs to help him grow and learn as he should. 

We have a just giving page set up for Freddie for anyone who wants to sponsor us on our fancy dress charity walk  http://www.justgiving.com/Swan-Freddie
Also we are on the look out for items for our online auction so if you can help or know anybody that can please do get in touch. 

Rare Disease Day

Today is Rare Disease Day. In order to be considered as rare, each specific disease cannot affect more than a limited number of people out of the whole population, defined in Europe as less than 1 in 2,000 citizens.

In the 2.5 years since Freddie was born I’ve learn alot about rare diseases. I know that most of these diseases are genetic, serious, chronic and debilitating. I know that 75% of rare diseases affect children and 30% of rare disease patients will die before their 5th birthday. I know rare diseases are scary and horrible. But despite this it’s very easy to forget that Freddie has one. Infact Freddie is just a normal little boy to us. We don’t see him as severely disabled or rare and I often forget that he should be able to walk and talk. Hes just Freddie.

But sometimes things happen that make you realise that the rare disease is there, lingering in the background and we are totally unaware of what to expect from it.

Last week Freddie started behaving a little unusually. He started pulling strange facial expressions and would panic if I tried to sit him up. He seemed confused and disorientated, he was twitchy and jerky and he seemed fearful of things that weren’t there. He would suddenly go shocked and wide eyed.He just wanted to lay down and he laid in the same place for hours. Anyone who knows Freddie knows how much he likes to move around and he never lays still. It’s so out of character for him. This went on all evening until he finally fell asleep.

The next day he woke up the same, not quite as bad but he was very quiet and withdrawn and not behaving like Freddie normally would. He was really clingy and just wanted to be held and cuddled. Freddie’s never enjoyed cuddles, he would much rather be on the floor playing. A week later Freddie still isn’t back to normal. He’s behaving like a very different little boy and we are quite worried as to what has actually happened to him. His doctor has said it may be seizures but they aren’t sure yet. We just have to monitor him.

Since this happened last week I’ve been a lot more scared of the future. We know that Freddie’s undiagnosed syndrome may mean he could have a shortened life expectancy, we know it may be progressive, things could get worse as he gets older and he could lose the skills that’s hes worked so hard to learn. He could also go on to lead a long, happy life, we just don’t know. But what happened last week has made life seem a lot more precious.  Anything could happen at any time. Rare diseases are scary and more needs to be done to help research them. Freddie will never get better, but the more we know about his syndrome the more we can do to help him.

Swan Freddie now has a facebook book page. Click the ‘like’ button at the top of the page to keep up to date with the Swan Freddie blog.

A map of Freddie

We have known since birth that Freddie has a genetic syndrome but we are still not sure yet which one he has. The genetics team suspected that it is so rare that possibly only a handful of people world wide have it. Over Freddie’s. 2.5 years of life we have acquired alot of doctors. We have close to 20 different doctors and therapist who each focus on a different part of Freddie’s care.
Over the past few years we have been told all sorts  of different issues and problems that Freddie has. With so many doctors and therapists it can be easy to get confused with what’s going on with Freddie. So below i’ve grouped it all together. One big map of Freddie from a doctors point of view -

But the doctors don’t know the real Freddie, they don’t see little boy he really is.
This is the real Freddie -
I know what one I prefer.

Swan Freddie has a new facebook page where you can keep up to date with all the goings on with Freddie.  Just follow the link and give us a ‘like ‘- http://www.facebook.com/SwanFreddie?fref=ts

Why do I blog?

When Freddie was born and we were told he had an undiagnosed syndrome I remember feeling so worried and alone. I couldn’t understand how they didn’t know what was wrong with him. I felt like we were the only family to be going through this and it was a really scary time. I would sit for hours every evening searching the internet trying to work out what type of syndrome Freddie had. I would join groups on facebook to try and get some support but I never felt like I belonged as everyone had a diagnosis. Then in July 2011 when Freddie was 13 months old I came across a group called Swan UK on facebook. A group specifically for children who have a syndrome without a name! I was so excited to join. It was quite a small group at the time and everyone was so friendly and welcoming.

A couple of the group members had blogs, theaandnatesmam and littlemamasaid. I had never heard of blogging before and was intrigued to find out more. So I sat down one evening to have a read. Both blogs made me cry. They both had very touching stories but the tears weren’t just for that. I felt so much that I could relate to what they said, like i wasn’t alone anymore. Our journeys weren’t the same and our children all had different issues but reading their stories made me feel like I had found somewhere I could belong and this spurred me on to start my own blog.  I wanted to share Freddies story in the hope that one day somebody in my position may read it and feel how I felt. That maybe I could help somebody else with an undiagnosed child feel less alone.
My first blog post I did I wrote about Freddie and our journey so far. I found writing everything down really helped to get all my feelings out, my own therapy. From that day on whenever things got tough I would blog about it. So many feelings that I hadn’t spoken to anyone about I shared on my blog. The grief of having an undiagnosed child and the guilt I felt.
The Swan uk group has grown alot since I first joined and there are now alot of parents and grandparents that write a blog. I look forward to reading everyones blogs, it’s such a nice way to keep up to date with each others stories, to offer each other support and share information.  They can all be found here on the Swan UK undiagnosed website.

Starting 21st January Swan UK will be starting to take nominations for the Swan UK blogging awards. More information on how you can join in or nominate can be found here

Tonsil & Adenoid Removal

For a while now we have known that Freddie has Sleep apnea. He had a  sleep study in February last year & the results confirmed he had both central & obstructive apnea.
On Friday, Freddie had his tonsils & adenoids removed to try to help stop the obstructive sleep apneas. His ENT doctor isn’t convinced that it’s going to make much difference as his tonsils are very small but we are remaining hopefully it will make enough difference to stop these apneas.
I’ve been dreading the operation for sometime now. It will be Freddies 5th operation but what makes this one different is that I would be doing it without having my husband with me. So there would be nobody to take over if things got tough, nobody to help with meds and feeds or to help look after Evie. And perhaps the thing that was bothering me the most was having nobody to hold my hand if things went wrong.
My sister had offered to come with me to the hospital to help me out and to care for Evie overnight while I stayed on the ward with Freddie. Before we were due to go to the hospital I had a chat with Evie to help her understand what would be happening with Freddie to prepare her ready for seeing her little brother poorly. In typical 3 year old style she skimmed over the parts to do with Freddie and only really listened to the part where I was going to take her to the cafe for her lunch!

Breakfast before op

The day of the operation arrived and I spent all morning running around trying to make sure we had everything we needed to take with us. All the right medicines, bottles, feeding pump, milk, syringes and plenty of clothes. We arrived at the hospital at 11.20am and took a seat in the waiting room. This was where things started going wrong. I got my phone out and noticed I had a text message. It was from Freddies ENT doctor saying they had no spare beds in the high dependency unit for Freddie so were having to cancel his operation! I couldn’t believe I was finding out via a text message 10 minutes before we were due to start getting ready for the operation that it was cancelled . I was furious! The amount of preparation that had gone into this operation seemed to mean nothing to the hospital. The mental preparation needed as a parent to send Freddie down for another operation, preparing Evie to see her brother poorly in hospital again, preparing childcare for Evie, as well as all the packing and travelling involved.
I went straight to the nurses at the reception desk and asked if they had any idea why I had just received a text message telling me the operation had been cancelled. They seemed as bewildered as I was that it had happened. I told them that if the operation didn’t go ahead today there would be no other time it could happened in then near future, and considering it was booked in as an emergency operation waiting any longer would not be good for Freddie’s health and development.
We waited around for an hour while bed management tried to find a hdu bed for Freddie and eventually one was found and the operation was on.

Cried himself to sleep before op

Now while I was massively glad that things were going ahead I was quite annoyed to end up being at the bottom of the operation list. It’s not that I want and expect specialist treatment for Freddie but it is undoubtedly harder to keep a child with severe learning difficulties happier than it is a child who can play and understand whats happening. Freddie had been starved since 7.30am and was getting very hungry and irritable  I couldn’t explain to him why he couldn’t have food and to me it seemed a little cruel to keep him waiting till 4.15pm until he could go down for his operation.
We were finally called to go down to theatre and by then Freddie had given up the crying for food and was fast asleep in my arms. I laid him down on the operation bed and held his hand as he was put under anesthetic. I gave him one last kiss before leaving him in the hands of the surgeon.
The dreaded waiting around for news began. All kinds of thoughts drifting through my head, wondering if Freddie was ok.
We went to the cafe and I tried hard not to think of Freddie. I was lucky enough to get a room in one the Ronald Mcdonald houses for Evie and my sister to sleep in overnight. So after the cafe I went and collected the keys for the room and was shown around their fantastic facilities. . They are an amazing charity and made my short stay alot less stressful knowing Evie could stay close by.

I finally got the call to say Freddie was finished and I went down to the recovery room with the nurse to collect Freddie and take him back to the high dependency unit. He was still fast asleep and was dosed up on pain relief.

Back in hdu

As expected Freddie never had a great night. He was very tearful and in lots of pain. He didn’t want to drink any fluids so  he was hooked up to his feeding pump through the night. I managed to grab an hours sleep on a chair next to Freddie’s bed but spent most of the night rocking a very heavy Freddie in my arms. At 4am the hdu nurse told me to go over to the room in the Ronald McDonald House and get a few hours sleep. My experiences with nurses in the past have never been great so I was shocked that they were going to take over and allow me to get some rest. At 4am i walked through the silent, deserted hospital and across the hospital car park in the pitch black and let myself into the house. I snuggled in bed next to Evie and slept until 7am.

The next morning I went straight back to Freddie who seemed alot brighter. He even managed some smiles! He was still on alot of pain relief but as he hadn’t needed any oxygen overnight we were hopeful he could be taken home. He just had to drink some milk first but it wasn’t looking likely that he was going to have anything orally. Just looking at the bottle made him cry. I tried to squirt a little milk into his mouth but this made him instantly sick. Eventually after a long afternoon nap he woke up hungry and drank 200ml of his bottle. The nurses then decided that it needed to be a proper pureed meal he ate before leaving. But after having a talk with them over Freddies feeding issues they decided that 200ml of milk was alot for Freddie to drink and they decided we were ok to go. We were discharged with 4 different pain relief medicines and told about the complications that can occur after this type of operation.

Night time meds

Back home Freddie went straight to bed and was dosed up on his night time medicines. Now we have to wait for 2 weeks to go back to the hospital to repeat the sleep study and hope that we see good results from having the operation and there is no longer any need for overnight oxygen.

The bum shuffle!

We have always had big question marks over whether Freddie will ever go on to walk. The doctors and physio aren’t sure either way. Freddie sometimes appears to have issues with bending his knees and his lack of understand has made it very hard for us to help him achieve his potential physically.  More recently concerns have been raised over his pelvis & curved thigh bones which has left me even more fearful that Freddie may never walk.
But then he did this -

He bum shuffled along the living room  floor! giving me massive hope that this is the start of Freddie becoming mobile.

Sensory advent calender

I’ve always loved Christmas, it’s my favourite time of the year. I love putting up the Christmas tree, wrapping presents, eating good food and having a hot chocolate with a good Christmas dvd. What’s there not to love about it!
This year though i’m having mixed feelings over it. I still love all the festivities and getting Evie all excited for Santa but this seems like the first year when Freddies learning disabilities have made me feel a bit down.
His first Christmas he was only 6 months so obviously was clueless it was Christmas, his 2nd Christmas he was 18 months so again can be forgiven for not really understanding it but this year is the year he should be understanding. At 2.5 years old he should be getting all excited like Evie, picking what advent calender he wants & helping us buy new decorations for the tree.
I’d love more than anything for Freddie to come down on Christmas morning & rip the paper off his presents and squeal with excitement over his new toy car or be desperate to eat all the chocolate hes been given. But this won’t happen, he has no understanding of what a present is and it will just be another day for him.
We haven’t been able to go to the local shops and fill our trolley full of boys toys for Freddie, instead we have carefully selected toys from a special needs website that we hope will be appropriate for Freddie & can only buy a few due to how expensive they are.
Birthdays and Christmases always seem like the hardest of times, like a reminder of what we are missing.

I hate leaving Freddie out of the build up to Christmas and try to involve him in every way we can whether he understands or not. So when i bought Evies advent calender this year & felt that bit of saddness at not being able to purchase 2 i went home & started making Freddie his own sensory calender so he too could have something every morning like Evie will have.

It was something I did last year for him but never had much time to do it properly so this year I started early and he now has a box full of 24 different Christmas items. Most of the things are decorations we already had so it never really cost much to make. All of the items are things to look at, feel, smell and get messy with.
We have -

Jingle bells
Fake snow
A santa ball
Christmas pudding to do messy play with
Tinsel
Pine cones
A Christmas teddybear
A Christmas tree branch
A soft Christmas book
A Christmas book with sounds
Flashing Christmas lights
Baubles
A dancing penguin
Christmas bows
Shiney Christmas wrapping paper
Mince pies to do messy play with
Christmas Beads
Christmas paper chains(made by Evie)
Orange Pomander
Mistletoe
Cinnamon Sticks
Snow globe
Light up snowman
Christmas tree shaped decoration with bells on
Paint and glitter to make Christmas cards

Hopefully he will like looking, feeling and smelling all the items and we can help build his understanding of Christmas time.

1 year on

A year ago today I started writing this blog. I didn’t really know much about blogging back then and the idea of writing all my feelings down for the world to read seemed a bit daunting. But after doing a few posts I really started to enjoy it. It was initially a place for me too offload a bit, somewhere to write down some of my feelings and let off some steam. I think now it’s become more of a little diary for me. A place to write about how appointments are going and what we have been up to. I have always hoped that someone in my situation may have read my blog and took some comfort in knowing they are not alone.
This time last year Freddie was 17 months and life was pretty hard going. We were drowning in appointments and it just felt like a never ending battle. Freddie had started to sit up & was batting at toys. He was eating small amounts of pureed food but we were still relying heavily on his gastrostomy feeding tube. He had start to wiggle across the room on his back a little bit but there was no babbling from him or attempts to crawl or walk. I think back then I was still convinced Freddie would catch up and he wouldn’t go on to be a disabled child. We had been told he had severe delays but I still held out alot of hope that everything would go on to be ok.

A year later and Freddie is 29 months old, We are still drowning in appointments, 1 a week is a minimum, we seem to be on more like 4/5 a week at the minute. Freddies sitting has improved, hes still wobbly and falls over & sits in a very bad position for his spine but there is some improvement. Hes still eating small amounts of pureed food, we have tried to move onto more solid foods but they seem to make him retch. I have been trying to encourage Freddie to take small amounts of water from a beaker so we don’t have to rely on the mickey button so much but he really struggles with swallowing it. Freddie still isn’t babbling but i do think there has been some improvement on his understanding of what i’m saying to him and he has learnt to wave and to clap his hands! Freddie still isn’t crawling or walking and we are having big problems with his sleep. He has little interest in playing with toys, possibly as his hands don’t work as they should but his Ipad will keep him entertained all day, it’s just taking it off him that’s the problem! Freddie takes 9 doses of medication throughout the day via his mickey button and is pump fed milk in the night to make sure he gets enough calories to grow.
There have definitely been some improvement with Freddie’s development, it very slow progress, but any progress is great. I think now I have accepted more that Freddie won’t catch up. That he will need round the clock care for his whole life. It’s a hard thing to accept but i think by accepting it it’s allowed me to change my views and become more positive.  I no longer look at other children like Freddie and feel sadness that Freddie isn’t like that(well, maybe i do sometimes! But alot less frequently) I have learnt to embrace Freddie for who he is. I don’t want people to look at him and pity him for being unable to walk or talk, I want people to look at him and smile and see how fantastic he is. He has me laughing daily at how quirky he is…the boy who retches at the sight of foods yet will happily suck on my toe!
Freddies undiagnosed genetic syndrome leaves us with so many unanswered questions over the future. We have no idea if Freddie will live to be 5 years old or 100 years old. What we do know is that the associated health problems that come with these disorders are the biggest cause of death of children aged 14 years and under. Only last week a child who was part of the swan uk(syndromes without a name) group sadly passed away. It was a real shock to everyone in the group and made life with an undiagnosed child seem little more scary.
In my opinion life is far too precious to waste it wishing Freddie was someone else. Freddie may eventually go on too walk and talk or he may not but either way we will appreciate every single day we get to spent with him.

I’m not sure what the next year will bring for us, we are looking at the possibly of another operation in the very near future, talks about overnight oxygen(hopefully it won’t be required) and Freddie should be starting in some sort of nursery/school setting.

This blog is dedicated to Beatrice, RIP little one xx