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All posts for the month February, 2012

Rare Disease Day

Published February 29, 2012 by swanfreddie

Today is Rare disease day. A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000.
As far as we are aware Freddie has a unique disorder making him very rare. We have no name for it so for now it is referred to by us Freddie syndrome. As we don’t know of any other children as yet that are similar to Freddie we have no information on what to expect from Freddie so i can’t tell you about what his future will hold but i will show you how it affects him.

Freddie is 20 months now. According to developmental milestones a typical 20 months olds is able to attempt to take off their own clothes, feed a dolly, be able to say 20-50 words & is learning 5-10 new words a day. They may start to draw straight lines & be able to name several body parts. Some are beginning to show signs of bladder control & are able to walk up the stairs. They can run well & are beginning to ask lots of questions.

With the rare disorder that affects Freddie he is not able to do any of these. He has severe global developmental delay. Freddie still hasn’t mastered the basics like how to drink properly from a bottle or eat purees, he doesn’t yet hold toys in his hands & he doesn’t laugh or babble. He can sit for short periods & bares a little weigh when held tightly.
Some of the symptoms of Freddie syndrome include failure to thrive, dysmorphic features,  atrial heart defect, stridor and tracheal tug, a retro position epiglottis and micrognathia, high arched palette,  adducted thumb, unusual index fingers, clenched toes and prominent heels, stiff hips, astigmatism & long sightedness, a mixture of a metopic suture & trigonocephaly with Plagiocephaly, eczema & myoclonic epilepsy.

Freddie syndrome can be hard. But its not all doom & gloom. You learn to appreciate even the smallest of things. You become the proudest parent alive when your child does something so small that most parents would take it for granted. I have also had the opportunity to meet some truly amazing people who have helped support me through hard times.
I don’t know if Freddie syndrome will stop him from walking or talking or will shorten his life. I don’t know what his future holds & a big part of me doesn’t want to know. Freddie is an amazing little boy and has a smile that would melt any heart.


Back to the hospital

Published February 27, 2012 by swanfreddie

Following on from my last post about Freddie being ill things got worse. We ended up back on the childrens ward the next day. Freddie just would not stop screaming & i was beginning to get so worried about him.
We got to the assessment unit at 12.30. The doctor who saw him the previous day could not work out why he would still be so distressed & with him still vomiting she decided another night in hospital would be best so he could be monitored.
As the night progress Freddie was hysterical. I spent 2 hours trying to console him. Not a single nurse came in to see if he was ok, despite the fact the screaming could be heard clearly from the corridoor.  After 2 hours of comforting i was exhausted so i went to the nurses station & asked for someone to look at him. 30 mins later somebody finally arrived. How the nurses could leave a boy with all the problems Freddie has crying for that long is ridiculous. By the time they arrived the poor boy was so exhausted he had finally fell asleep.
The next morning we woke up to more of the same. We asked countless times for medication to ease his pain but it took them 4.5  hours to bring anything for him, his screaming was ignored all day & nobody seemed bothered by him. The whole point in us being in hospital was so they could monitor him but nobody came to us unless we went to them.
He went on to have seziures in his sleep & pauses in his breathing of up to 10 seconds (something we had previously mentioned to doctors but this was the first time a doctor had seen it & she was listening to his chest when it happened) i would expect more concern from them over this but she said it could just be something quirky that Freddie does! I already wake up everymorning dreading going into Freddie incase something awful has happened overnight, that is made 1000 times worse now my fear of him stopping breathing is confirmed.
I just despair at the care the nhs provided to us. We have enough to deal with on a daily basis without being let down when we really need help.
We bought him home yesterday but hes still no better, but just glad hes at home. Hes barely had any food all week so his weight is dropping rapidly, which when you have spent 20 months trying to build up isn’t ideal. The idea today was to slowly pump feed him milk but that came back up. So he went back on water & dioralyte all afternoon. Just hope he can get back to his normal self soon. I miss him so much.

In a weird way we are really lucky

Published February 24, 2012 by swanfreddie

We’ve had a very good winter. Freddie’s had no major illnesses, just a couple of colds. They last longer than they should but he has coped well with them. We are lucky really, when Freddie was born we were told he would struggle with the winters & probably end up seriously ill. Tuesday he became poorly & still isn’t feeling better but it could be much worse.

Tuesday morning started with me going to get Freddie out of bed & finding him covered in sick. He seemed happy enough in himself so i just put it down to bad reflux. He slowly went downhill throughout the day, 1st showing no interest in food & then he started being sick. By bedtime he was keeping no food down & he had really bad diarrhea. After alot of pj & bed sheet changes he slept through the night.

5.30am on Wednesday he woke up very sad. I tried slowly pumping some milk into him but it came back up, as did all his meds. I spent the rest of the day just pumping water into him to stop him from dehyrating.  This carried on throughout the day along with bad diarrhea. He was very lethargic & wouldn’t stop crying.  I started to worry about him & the fact he wasn’t keeping his epilepsy meds down so i booked him in for an emergency doctors app. She told us to carry on as we are with pumping the water into him & if he gets any worse then go to a&e. We did managed another night at home but he woke up alot throughout the night.

The next morning he was no better. The crying was really beginning to worry me. If he wasn’t asleep he was screaming. I rang the doctors again & requested a call back from our gp, his advice was to carry on with water & bring him to doctors if we were worried. We tried to carry on at home but by 9.30pm he was really bad. Vomiting, diarrhea, shaking, screaming, vacant & lethargic. We decided we were best to get him check out so we grabbed Evie out of bed & down to a&e we went.

The waiting room was rammed & there was a 2 hour wait. Freddie was screaming & it felt like the whole room was staring at me. Luckily as he was so distressed they moved him to the top of the list so the wait wasn’t to bad.
The doctor said he had what looked like an upper respiratory infection & decided to keep him in overnight as he was looking dehydrated. By the time we moved to the ward it was 1.30am & he’d had 3 very bad nappies. I finally got him to sleep after lots of crying & managed to grab a few hours myself. Not easy to sleep though when a nurse comes in every hour to put water down his tube. He was up again at 5.30am screaming, he kept this up for a good hour until he went back to sleep until 8am.

The doctor checked him out at 9am & we said we would be happy to take him home as we have all the equipment in place to care for him & we felt that he would be happier in his own environment. After a 2.5 hour wait for them to prescribe some dioralyte(No idea why it took them so long!) we took a totally exhausted little boy home.
When we got home & i hooked him up to his feeding pump & put him to bed. He woke up after a few hours and we had cuddles for a little bit but he was still very sad & screamy. Hopefully over the next few days he will start feeling a lot better & get that little smile back. I’ve missed seeing his smiley little face!

Even though hes had a bad few days we are lucky really as hes not been as bad as the doctors predicted we are gaining more & more confident in dealing with him at home. Also i’d like to add that his big sister has been a total star the whole time. Her mummy & daddy time has been even less than normal over the past few days & even though she got dragged out of her bed to sit in the hospital for a few hours she never moaned once.

Do you see what i see?

Published February 21, 2012 by swanfreddie

This afternoon Freddies sister Evie & his dad were outside playing so we went out to join them. There’s not really anything to do in the garden for Freddie. We have a playhouse, a seesaw, slide, scooter & a bike but clearly way to advanced for Freddie to play with. So his dad just held him while Evie played. Freddie spent the whole time looking round the garden in amazement.  He wouldn’t respond when we spoke to him as he was far to busy looking around. This got me wondering what Freddie actually sees and understands. What goes on in his mind.

In most cases it’s fairly easy to understand how a neurotypical child sees the world. Evie knows colours & numbers, she can name objects & holds conversations with me she tells me when shes sad or when shes happy & plays as you would expect a 2 year old to. So i can pretty much understand whats going on with her. But trying to understand what Freddie sees isn’t as simple.

This morning for example, i went up to Freddie at 8am as he still hadn’t made any noise to tell me he was awake, when i went into him he was just laying in his own vomit. What must have gone through his mind as he was sick? Why did he not cry to tell me something bad had happened?
In the garden when he was looking around what was he seeing? Does he see the trees & leafs as i do? Does he look at his sister playing & feel any desire to want to play? Does he hear me & his dad talking to him?
When he wakes in the middle of the night & lays in the darkness what does he think? Does he know it’s bedtime? Does he get lonely? Or miss his family?
When he plays with toys does he see a toy as i see a toy? Does he understand what he should be doing? Does he see all the bright colours on the toy?
When he sees me & his dad & sister does he see people he loves? and that love him back? Does he know i’m his mummy?

So many questions but with a child like Freddie you get little answers. I found a nice little to poem that related to this a bit –

I Am The Child

I am the child who cannot talk. You often pity me, I see it in your eyes. You wonder how much I am aware of — I see that as well. I am aware of much — whether you are happy or sad or fearful, patient or impatient, full of love and desire, or if you are just doing your duty by me. I marvel at your frustration, knowing mine to be far greater, for I cannot express myself or my needs as you do.

You cannot conceive my isolation, so complete it is at times. I do not gift you with clever conversation, cute remarks to be laughed over and repeated. I do not give you answers to your everyday questions, responses over my well-being, sharing my needs, or comments about the world about me. I do not give you rewards as defined by the world’s standards — great strides in development that you can credit yourself; I do not give you understanding as you know it.

What I give you is so much more valuable — I give you instead opportunities. Opportunities to discover the depth of your character, not mine; the depth of your love, your commitment, your patience, your abilities; the opportunity to explore your spirit more deeply than you imagined possible. I drive you further than you would ever go on your own, working harder, seeking answers to your many questions with no answers. I am the child who cannot talk.

I am the child who cannot walk. The world seems to pass me by. You see the longing in my eyes to get out of this chair, to run and play like other children. There is much you take for granted. I want the toys on the shelf, I need to go to the bathroom, oh I’ve dropped my fork again. I am dependant on you in these ways. My gift to you is to make you more aware of your great fortune, your healthy back and legs, your ability to do for yourself. Sometimes people appear not to notice me; I always notice them. I feel not so much envy as desire, desire to stand upright, to put one foot in front of the other, to be independent. I give you awareness. I am the child who cannot walk.

I am the child who is mentally impaired. I don’t learn easily, if you judge me by the world’s measuring stick, what I do know is infinite joy in simple things. I am not burdened as you are with the strifes and conflicts of a more complicated life. My gift to you is to grant you the freedom to enjoy things as a child, to teach you how much your arms around me mean, to give you love. I give you the gift of simplicity. I am the child who is mentally impaired.

I am the disabled child. I am your teacher. If you allow me, I will teach you what is really important in life. I will give you and teach you unconditional love. I gift you with my innocent trust, my dependency upon you. I teach you about how precious this life is and about not taking things for granted. I teach you about forgetting your own needs and desires and dreams. I teach you giving. Most of all I teach you hope and faith. I am the disabled child.

The social worker visit

Published February 18, 2012 by swanfreddie

On Thursday we had 2 social workers come to the house to do Freddies initial assessment. I won’t go into too much detail about how it went, simply because it’s to complicated to explain & i don’t really know myself! Our main reason for ringing social services for the child in need assessment was because having a child like Freddie is damn hard work!
We spent an hour discussing Freddies needs, his lack of a diagnosis, his medication, his doctors & therapists & how it all affects our family. We were really trying to push for some form of respite. I’m tired, my partners tired & Evie needs some mummy & daddy time. Every single part of me feels guilty for admitting that i need a break but i do & if i don’t get it then i will eventually just burn out. The Social workers didn’t seem overly bothered about offering respite, despite the fact they said he clearly has very complex needs & they could understand how it must really affect us. Anyway they are ringing back next week so we should know more about it then.

Once they left we then had a physio session. Our physio is great & seems to care alot about Freddie. We spoke to her about the assessment & i did end up pouring my heart out to her a bit! I could open up to her so much more than i could the social workers. She put me at ease whereas having two social workers perched on the end of my couch taking notes on everything i was saying was very daunting. I explained to her how as a family we REALLY are struggling. Freddie takes over our whole life. People may think that is an exaggeration but he really does.
When i originally thought about looking into respite i kept trying to justify my need for it by saying it was just for Evies sake but when speaking to the physio i found myself admitting that actually i need a rest. I need to sit down & relax, even just some time to do some housework would be good! I found myself saying that Freddie is beginning to become a bit of a burden on us. I feel generally awful for feeling this but it may show how much i need a break. I told her how guilty i feel when i don’t do enough of his therapy with him & that i worry i make his problems worse by not doing enough with him.
She was so understanding & is going to speak to the social workers for us. She is also going to get our SALT & OT together & discuss Freddies needs & see what is the most important thing we need to focus on with Freddie & the rest of his therapy can be put on hold for a few weeks. Not sure how i feel about this. I feel a bit like i’m letting him down. If hes having less physio or seeing less of the occ therapist am i stopping him from progessing? In all honesty progress is that slow that i’m not even really sure it will make much difference.
I just want to stop feeling guilty all the time & worrying that his lack of progression is my fault.

Dreams

Published February 12, 2012 by swanfreddie

I woke up this morning & could remember a really vivid dream i’d had about Freddie…He was sat on a family members knee & had a big full head of blonde hair. My partner was sat on the chair opposite & more family members were sat in the room. I was stood in the door way looking on. Freddie suddenly just said “Daddy” I remember everyone looking at each other in disbelief & then Freddie said it again “Daddy” It was the cutest little voice i’d ever heard.

Then i woke up.

Some people might not realise how much of an impact that dream could have on me.  At the age of 20 months Freddie is yet to properly laugh or babble. He makes a few noises now & again but hes quite a quiet boy. To hear his voice in my dream was hard as it’s something i long to hear in everyday life.

One day Freddie will hopefully learn to talk. Our SALT told us not to expect Freddie to speak anytime soon as he hasn’t began exploring his mouth properly which he seemingly needs to do before he speaks. For now to help to allow Freddie to communicate we are beginning to try & use basic makaton signs when we speak to him. So far i’ve learn mummy & daddy & i’m hoping to add milk, food, again & more. Freddie is very oblivious to the signs but i’m hoping if i start to learn them now that when hes ready to start using them i’ll be an expert!

In the past i’ve had another dream where Freddie has walked but i don’t remember much about that. Something else i long to see one day. Freddie struggles to move against gravity.  He is able to sit for short periods, he began sitting properly unaided at around 14 months but he still only manages around 10/15 minutes until he falls over. Hypotonia has been mentioned  as has hypertonia, but no one can quite decide which, if any he has.

I have spoke to a few other lovely mummies about dreams & it seems it affects other people too. It can feel a bit like torture. Waking up after a dream like that doesn’t put you in the best state of mind to carry on with the long day ahead, but this morning seeing Freddies cute smiley face first thing in the morning was enough to make me just get up & carry on & live in hope that one day i’ll hear his voice & maybe even have a conversation with him.

 

Sleep study

Published February 9, 2012 by swanfreddie

Last night Freddie had his first sleep study. In my head we would go in to a room, hook him up to the machines & we would just be left to sleep until the morning. It ended up being a bit of a nightmare.

We arrived at 3.30pm & they started an eeg study on Freddie. They glued all the electrodes to Freddies head, much to his annoyance, and explained that they would be back at 8pm to set him up for the sleep study. We spoke to a respiratory nurse who explained she would come back at 10am to explain the results to us(which we were made up about as we weren’t expecting to get them the next day!)
So Freddie changed into his pjs and we had a bit of a play while we waited.

Freddie got really tired at 6pm & was struggling to stay awake so i put him down to sleep. But realised where they had glued the electrodes to his head they had tangled his glasses in them so he had to try & sleep with him glasses on. He spent from 6pm – 7pm screaming! When he finally dropped off i managed to grab something to eat & chill for an hour before the lady came to hook him up the sleep study machines at 8pm.

Freddie woke up as soon as she began hooking him up & he was super sad. It got even worse when she put nasal prongs up his nose. He spent another good hour screaming before he fell back to sleep.

I finally got into bed & had just laid down when a nurse came in to check if we were ok. The nurse spoke so loudly that Freddie woke up again! Another 15 mins of screaming & he finally went back to sleep & i joined him.
We got woken up just before midnight by the same nurse who seemed to think they had forgotten to hook Freddie up to the sats monitor. So they faffed around hooking him up to this & ended up waking him up again which meant more screaming. Finally back to sleep & the sats monitor goes off & it was LOUD! Right down Freddies ear. So more screaming! Then back to sleep again but this damn nurse kept coming in & he insisted on putting the main light on everytime which kept waking both me & Freddie!

Morning finally came, me & Freddie were both knackered but got up & dressed & sat waiting for the results. Andy & Evie arrived at 10am. At 11am the nurse came to room & told us we could leave now…we explained that we had been waiting for the results that we were told we were getting. She went off to see what was going on & came back with another nurse. She told us that they don’t give out results the day after & they are not even sure that Freddies study would of been good enough as he didn’t sleep for long enough.(HE WOULD OF IF IT WASN’T FOR THAT NURSE!)


So now we are back home. I’ve rang our respiratory doctor & she won’t be looking at the results until Tuesday. So no idea if it showed anything or if we need to have it done again. Andy booked 2 days off work unpaid, we paid 8 tunnel fares & did 4 hours of driving for that.