Undiagnosed children’s day 2014

Published April 25, 2014 by swanfreddie

One thing I’ve found since having a child with no named syndrome is that it can be hard to give people any information on your child. When you have a named syndrome it can often be a lot easier for people to gain an understanding of your child. Having an undiagnosed child can be very hard to explain to other people and often people don’t like to ask too many questions. I personally don’t mind people asking me questions about Freddie, I’m more than happy to discuss him and help people gain an understanding of him.
Over the past few years I have been asked a lot of question and with it being undiagnosed children’s awareness day I thought I would write some of them down to help everyone gain a better understanding of Freddie and what being undiagnosed means. 

What is wrong with Freddie?
Freddie has a complex undiagnosed neurodevelopment syndrome. It causes him to have many problems which affects his whole body. He is severely mentally and physically delayed. Have a look at Freddie’s body map here to see what effects him where on his body.

What does being undiagnosed mean?
There are many syndromes that can effect children that most people have heard of. Probably the most well known is Down syndrome which occurs when a child has an extra chromosome 21. Being undiagnosed is surprisingly common and as many as 50%  of children with learning difficulties remain undiagnosed. 

There are many tests that can be done on a child to try and help find a diagnosis but often children remain undiagnosed if that condition is rare and harder to identify.

Does undiagnosed mean it’s not very serious?
This is something that a doctor said to me once and I found it surprising that they would think this. Just because a diagnosis can not be found does not mean it is not serious. In fact a lot of children I know who remain undiagnosed live with life threatening conditions and are very serious. Without having a firm diagnosis nobody can be sure what the future holds for the child or how serious the syndrome could be.

Will he get better?
Freddie will never become better. He may in time learn to walk and talk and will hopefully learn some more skills to enable him to become more independent but the likelihood is he will always need 24 hour care for his whole life. 

Why do you even want a diagnosis?
A lot of people often think getting a diagnosis for a child is labelling them. For me a diagnosis will provide us with crucial information on Freddie that could help us a lot. There are so many reasons why I feel it is important and even though I’m scared to know what syndrome he does have we will always do what we can to carry on searching for a diagnosis. 

  • Without a diagnosis it’s a lot harder to find support & somewhere to fit in. How can you find other people to understand what you are going through if you don’t know what it is? We were lucky to find swan uk(syndromes without a name) which is a support group for undiagnosed children. The children are all unique in their own way but we are all in the same boat.
  • Filling out forms becomes a nightmare, and with a disabled child there are a lot of forms to fill out! There’s always a box that asks for a diagnosis. Simply putting undiagnosed isn’t enough. There needs to be an explanation to go with that.
  • Trying to explain to other people what’s wrong with your child becomes hard & sometimes awkward. A lot of people assume that if your child isn’t diagnosed they will outgrow their problems.
  • Without a diagnosis we have no real idea what the future holds. I understand even with a diagnosis I won’t ever get an exact idea but to roughly know what to expect would help. It would stop the future being so scary & help us have some sort of sense of direction.
  • Our decision to have another child was very difficult without a diagnosis. We don’t know whether this child could have the same problems as Freddie.
  • If my daughter went on to have children we don’t know if her children could be affected.
  • When going to hospital appointments to meet new doctors you spent the whole appointment discussing Freddie’s problems as we can’t simply just name a syndrome.
  • A lot of undiagnosed children have to fight more to get the help & support they need. Without a diagnosis they tend to get pushed aside more.
  • Without a diagnosis a lot of people assume that it won’t be serious, when in fact it can be fatal.
  • Having a diagnosis would help me know if my Freddie’s condition is going to progress or deteriorate.
  • Getting travel insurance for an undiagnosed child is made a lot harder.
  • Some people assume a child is undiagnosed because the parents haven’t pushed for a diagnosis. That we’re somehow not making the effort.

Will Freddie ever walk or talk?
It is hard to say what Freddie will ever do development wise. He is showing some very positive signs that one day he will be able to walk. He is beginning to move his legs when held upright which is really encouraging. Freddie has low muscle tone in his mouth which will likely affect his ability to be able to talk. But it is hard to say what he will ever do and we like to remain positive and have heard some incredible stories of children as old as 10 learning to talk. 

What will the future hold for Freddie?
Without a diagnosis it is hard to say what the future will hold. We will continue to work hard with Freddie to help him achieve all that he can. If he goes on to walk and talk then that will be absolutely amazing but if he doesn’t we will work hard to give him independence in other ways. 

At the minute Freddie is doing really well. Despite having the odd chest infection he’s in pretty good health and we hope that will continue for the foreseeable future. There are some awful syndromes out there that unfortunately do limit a child’s life but we try to remain positive that Freddie will have a typical life expectancy and will go on to have a happy life.

Why does Freddie need a feeding tube?
Freddie has had a feeding tube since he was 8 weeks old. We have had a few different types now and you can read about them here. Freddie does struggle with eating and has a food aversion which means he can have a big dislike to certain food. We have worked hard to get Freddie to eat pureed meals. We try to give him 3 small pureed meals a day, which sometimes he will eat well, but other times he will refuse. Freddie also has a high calories milk which he drinks through a bottle throughout the day. Freddie doesn’t eat enough food orally throughout the day to continue to grow and thrive so we use the tube overnight to pump milk into Freddie to top up his calorie intake. We also use the tube throughout the day for Freddie’s 14 medicine doses and to give him water to make sure he stays hydrated. 

Why does Freddie take so many medicines?
 Freddie has taken medicines since he was a baby, but as he has grown we have had to add a lot more. He takes 4 different medicines to help control his reflux. His reflux can get very bad at times and greatly affects his ability to feed and causes him a lot of pain. Freddie takes 2 medicines to help control his epilepsy, which thankfully is very well controlled. We have a medicine to try and stop Freddie dribbling as much. Freddie dribbles a lot due to not swallowing so this medicine helps him to produce a little less saliva. Freddie also takes a medicine to stop him getting constipated. Due to his limited diet Freddie gets very constipated and causes him a lot of pain. 

Why does he have a bump on his head?
A lot of people comment on Freddie’s red lump on his forehead. We are often asked if he has bumped his head but it is actually related to his trigonocephaly. This is where the metopic (forehead) suture closes too early. 

Can Freddie see properly?
It’s hard to tell what Freddie can see. He regularly sees an opthalmologist to keep a check on how his eyes are developing. Freddie has an inturn in his left eye and they think he doesn’t see out of this eye properly which is the reason he wears glasses to try and strengthen this eye. They also suspect he suffers with cortical vision impairment so it is likely he doesn’t see the world as we do. But it is very hard to understand exactly what Freddie can see due to his lack of communication. 

His breathing is quite noisy, is he ok?
Freddie has always had noisy breathing and he is perfectly fine. As a baby he was diagnosed as having a stridor which is a high-pitched breathing sound. A stridor can be caused by a narrowed airway. As a baby he worried a lot of doctors with his breathing as it was very loud but as he has grown it has become quieter now but there are times when he can be very noisy, particularly if he is suffering with his chest aswell. 

If you have any questions you would like to ask about Freddie then please get in contact. I’m always happy to answer and share our experiences with you.

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The reason behind this blog post is because today is undiagnosed children’s awareness day. Before I had Freddie I never knew anything about disabled children and was unaware that children remain diagnosed. To get more information on undiagnosed children you look here at swan uk (syndromes without a name) website http://undiagnosed.org.uk/

You can also read more blogs about undiagnosed day over on the swan uk blog hop here http://undiagnosed.org.uk/archives/5674

 

 

 

 

 

 

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Enough

Published April 10, 2014 by swanfreddie

Today Freddie’s new bed was delivered. Freddie has needed a new bed for a long time but due to his physical difficulties he is unable to go into a regular bed. We have been lucky enough(or unlucky depending on how you look at it) to meet the nursing criteria to get a bed funded by the council.
Freddie currently sleeps in a cot and over the past year it has become increasingly difficult to lift Freddie in and out of it. Freddie’s new bed is very similar to a hospital bed. It has controls to move it up and down and you can tilt either end.

The moment the bed got delivered and assembled was bittersweet. Instead of the novelty, racing car bed designed for a 3 year old boy that I longed to give Freddie, we had a hospital bed. I know the bed is going to make life so much easier with Freddie. No more strain on my back lifting him in and out and being able to tilt the head end of his bed will come in really handy at helping to manage Freddie’s overnight reflux. But seeing the bed was horrible. It was another piece of equipment. Another piece of equipment for a disabled child. Lately I’ve been feeling quite suffocated by the amount of equipment and medical supplies we have. Everywhere you look there is something that Freddie needs. Something that Freddie needs to help keep him well and healthy.

Freddie’s bed

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Freddie’s chair

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Freddie’s bath chair

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Freddie’s standing frame

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Freddie’s pushchair

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Freddie’s sleep system

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Freddie’s walker

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Freddie’s tube feeding supplies

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Freddie’s daily medicines

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Freddie’s pump

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Having so much equipment in your house can be hard. Even though your incredibly grateful to have it all and that your child has everything he needs to help him thrive there’s a big part of you that would give anything to just get rid of it all. It can become quite overwhelming. Everywhere you turn in your house there is equipment. On top of all this we have other bit’s like glasses and splints. The glasses need cleaning constantly, the splints need checking and re-positioning frequently. Then there’s bibs that need changing every 30 minutes, a strict feeding schedule that needs to be followed, fluids that need to be put down his tube and stretches to be done. Every day seems like a never ending routine of caring.

Lately I’ve found myself wondering what life would be like to have a family without a disabled child. What do parents do if they aren’t busy with medicines, physio or hospital appointments? I wonder what it must be like to just go out for the day without having to pack a huge amount of supplies and plan the day to precision.
It’s not that I don’t love Freddie, because I do. I love him more than words can describe. But some days are hard. Some days you just want to say ‘enough.’ I’ve had enough of this disabled world.

 

Freddie’s news –

Published March 2, 2014 by swanfreddie

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Yes! We are due our 3rd child in September! 🙂
We don’t know what the future will hold for baby number 3. With Freddie being undiagnosed it’s hard to know if any of our future children could be affected by the same syndrome Freddie has. Although we did have positive news lately when we met with Freddie’s geneticist. He feels confident that Freddie is probably a one off and any other children are unlikely  to be affected. Although he can never say for definite until Freddie has a diagnosis.
This news has made us feel a lot more positive that baby number 3 will be born healthy, although naturally we do still have a lot of worries and fears over it.

We don’t care if we have a boy or girl, if they have blonde or brown hair or green, blue or brown eyes, we are just hoping and praying that when our baby comes it’s born healthy and well and doesn’t have the huge list of problems Freddie has.

Feeding tube awareness week

Published February 9, 2014 by swanfreddie

This week is feeding tube awareness week. As a baby Freddies feeding tube was a massive part of his life, it was his way of staying alive. Without it I don’t know where he would be now.
Since birth Freddie was a bad eater, but for the first few weeks of his life I manged to get enough milk into him to keep him satisfied. At 8 weeks old Freddie  was hospitalised as he was very underweight and had blood in his nappies. He was diagnosed with a milk protein allergy and reflux. As his weight had dropped very low  we had to start feeding Freddie via an ng tube, an ng tube is placed up the child’s nose and goes into their stomach.

Freddie had always had problems sucking on his bottle but it was now becoming more obvious that the problem was so bad it was preventing Freddie from taking enough milk. The ng tube was only meant to be temporary. We expected it be there for a few days until the doctors could help Freddie learn how to feed from his bottle properly. Several different feeding specialists tried to show us different ways to feed Freddie but nothing worked. So after a few weeks in hospital we were discharged home with the ng tube in place.
Freddie3 IMG_0523 IMG_0333 IMG_0648Freddie would constantly pull the tube out. We would end up down the hospital nearly everyday getting it sorted.  Repassing it was so hard due to Freddie having such small nasal passages. He would have to be pinned to the hospital bed while the nurses tried to get the tube up his nose. He would turn blue as he struggled to breath and would get so distressed. The tape also irritated his face and his skin would go so sore.
IMG_0558 IMG_0556For us the ng tube was a bad experience. Freddies feeding wasn’t improving and we were advised to have a more permanent feeding tube put in. So in January 2011 Freddie had his first gastrostomy operation & had a peg inserted.

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The peg made life alot easier. No more pinning my son to a hospital bed while nurses struggling to repass a tube, no more sore, burnt skin and no more tape covering up his beautiful face. But we didn’t like having the tube dangling around all the time. It became a bit of a pain, Freddie would pull at it & it kept getting caught on things and we became worried about it being pulled out. So 6 months after the peg operation we took the next step to have another operation to have a mickey button fitted.

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Having the mickey button made life alot easier. We were so glad we made the decision to have it done.
Freddie’s feeding has improved so much over the past few years but we do still rely on the tube not just for food but for his fluids and medicines too.
To me and my family Freddie’s tube is so normal and it’s not a big deal. Although looking through the pictures of our ng tube days brings a lot of hard memories  back.

I do wonder where we would be without these tubes. Freddie simply couldn’t feed and without food he couldn’t thrive. So if he couldn’t thrive he simply couldn’t live. So to us the tubes are lifesavers.

Genetics

Published February 4, 2014 by swanfreddie

Since Freddie was a baby a team of genetic doctors have played a big role in trying to help find what syndrome Freddie has. They have done various different tests on Freddie but all have come back normal leaving him a bit of a mystery to them.

Today we had an appointment at the hospital to meet with the genetic team. Genetics appointments can be very full on and hard for parents to sit through and today’s was no different and I spent most of the appointment wanting to cover Freddie’s ears so he didn’t have to listen to all the things that were being said about him.

Alot was discussed in the appointment and it’s very hard to take everything in but here’s a quick overview of what happened –

I’ll start off with the negatives of the appointment – Freddie being stripped to his nappy while the doctor pointed out to us all of his dysmorphic features – and there was alot! Right from the tips of his toes to the top of his head. Every little detail of what is wrong with Freddie was pointed out, an incredibly hard thing for a parent to listen to about their child.  Hearing a doctor tell you your child’s brain is wired wrong and that they have major problems is just heartbreaking to listen to, even though deep down you already know it. But we appreciate all that was done is necessary in order to help find out what syndrome Freddie has and the doctor was very kind and thorough with Freddie.

And the positives – The doctor thinks it is unlikely that any future children we have will be affected and Freddie is just a one off! Which is amazing news for us and will also mean that it won’t be something that Evie carries and could pass on to her children. They obviously can’t tell us for sure until we have a firm diagnosis but it has given us some hope for the future.
Also the doctor is actually going to test Freddie for a specific syndrome!! It’s a new syndrome that has only recently been found but the doctor thinks Freddie has some traits of another of his patients who has just been diagnosed with it. Hes not massively hopefully Freddie has it but thinks its worth testing for. So we will hear back in 2-3 weeks if its positive or not. I don’t know anything about the syndrome but if Freddie does have it we know the other patient is a young adult so he has made it through childhood and his teenage years! And as we know alot of syndromes come with shortened life expectancy so this is a massive positive to us.

A possible new problem was also spotted with Freddie when he was being examined so we will need a referral to the appropriate team and the doctor took some photos of Freddie so he can show Freddie to his colleagues to see if they have any ideas of what syndrome Freddie could have.

The appointment was tough on all of us but particularly Freddie. He really doesn’t like being touched by anybody and was very upset during the examination. So to cheer him up we had a nice bubbly bath and are now having big snuggles before bed.

Our perfect little boy.

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2013

Published December 31, 2013 by swanfreddie

2013 was another busy year for Freddie. He spent some time in hospital having an operation, he started school and moved to sunny Cornwall! It was another year full of hospital appointments, physiotherapy and tests. We even managed to squeezed in some fundraising and managed to raise over £2500 to help pay for much needed equipment for Freddie. But  it was mainly a year for smiling and making everyone who loves him very proud!
I am looking forward to seeing what 2014 will bring for Freddie. Will it be a year where he learns to walk ? say his first word? or take his first bite of solid food?  As long as he stays smiling and healthy it will be a good 2014.

 Here is Freddie’s 2013 in pictures-

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freddie hair

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Dear Santa

Published December 14, 2013 by swanfreddie

A few weeks ago Freddie’s big sister came to me and asked me how Santa would know what Freddie would want for Christmas if he can’t speak and tell anybody what he would like. She was a bit worried that he wouldn’t get any presents so being the amazing big sister that she is she decided to write a letter to Santa on Freddie’s behalf –

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Dear Santa,

Please can Freddie have a robot and please can Freddie have some lights and some books.

Love Evie (and lots of kisses because she loves Santa very much)