What's new with us???

Well it's been such a long time since I last blogged!! I'm now 17wks and 3 days pregnant with our second baby - 'spud'. Due date is 21st Jan - time seems to be flying by already. Wish it wouldn't tho lol!!! Bet I won't be saying that the nearer I get to 40 wks!!

Anyway, tomorrow we're taking Ryan into hospital. This time, on mon he's getting his gastrostomy done and then on tues he's getting a spinal MRI. we found out a few weeks ago that his spine has worsened by over 10deg in the last 6 months. Not good news at all, it's now at a 43 deg angle and getting worse. He's been referred to a specialist to discuss 'options'.

Worried sick about both GA's but got everything crossed he'll be fine. Hopefully he won't be in hospital for too long. 

Will update as and when I can. 

Julie x 

A little update

Well since I last blogged, things haven't really progressed that much - I don't think. Results are in from the endoscopy biopsies - it shows microscopic inflammation. We had another meeting with the gastroenterologist and a dietician. Gastro guy is quite keen to try and control reflux with medication and as Omeprazole doesnt agree with Ryan, he's on Ranitidine. His Domperidone has also been increased too. Dietician feels that Ryan is an 'ideal candidate' for the gastrostomy though - due to the length of time feeding and drinking takes as well as the amount of meds he's on now.
When he was in hospital on 12th Mar his weight was 32.2kg - 6 weeks later he was down to 29.8kg. This is what I was scared of happening - we're trying our hardest to keep him fed enough - its just so difficult!! We're due back to see them the 1st week in June (I think) and we'll see what his weight is doing then. This is something we've never had to deal with - he's always been a good eater and consistently put on weight. Nobody seems to be tracking his weight though so thats gonna be fun convincing them!! We do have copies of various discharge letters detailing his weight so we at least have those!!

Neuro also popped in during that meeting to tell us that the muscle biopsy has come back and for once - its not a 'normal' result. However, this doesn't really help any because she doesn't know what it actually means! We're waiting on another appt to see her to discuss further. One of his seizure meds has been increased again so hope it takes affect soon!!

We mentioned to her too that he's losing the ability to sit - he's never been able to sit unaided but could kinda maintain the position if held a bit KWIM?? Well for the last month or so this has gotten worse - he just falls over now. We were concerned that his spine was worsening, or he was degenerating but I think really it boils down to his weight loss - he's already severely hypotonic and I guess any weight loss will impact him quite a lot. At least, I hope to goodness that this is whats going on!!

Julie x

Gastro update

Was a really good meeting with the gastrostomy nurse!! Got a lot of information out of it, although it did raise some questions too!!

Think Craig was totally overwhelmed by it all trying his hardest to take it all in - and think of it in positive terms!!

It does look likely that, if/when we go ahead with this, Ryan will definitely need the fundoplication done at the same time. Thats the bit i'm totally dreading not so keen on. Guess thats why we still need to discuss this a lot more, especially with the gastro doc.

All in all though, a very worthwhile discussion - even if it did involve seeing a gastrostomy on a doll that wouldn't been out of place in Chuckie!!! SCARY!!!!

My fortnightly update!

Well Ryan had his endoscopy and biopsies done on Thurs. Anaesthetic went fairly smoothly although anaesthetist was flapping a bit about the sub-laxation in Ryans neck - *rolls eyes* - other than that though, was pretty straight forward.

Gastro guy came to see us afterwards, results so far show very little inflammation in his throat etc. This means that his body is dealing with the severe acidic reflux he is having but 'this is not necessarily a good thing'.............................WTF???????
Doc also witnessed the reflux happening so as you might imagine - like we did - he'd be put on medication or surgical options might've been discussed again???? Wrong..............we WAIT!!

Got to go back in 4-6 weeks to discuss results and what happens next. Its seems the medical staff doctors involved with Ryans care have the debilitating disorder of not being able to make a bloody decision without discussing it with a thousand other people who know nothing about Ryan!!!

Anyway, tonight we've got a Nutritionist Nurse coming to the house on her way home from work - hows that for service - to explain gastrostomy procedures etc to us. This should be really helpful - we're getting a bit worried that we're gonna be left with the decision regarding going ahead with this for Ryan. He aspirated last week and it was completely terrifying - I couldn't cope with that happening all the time.

Wish us luck for an informative meeting tonight!!
Julie x

Where does the time go??!!

Been ages since I was last here - things been busy I guess.................cant really actually think of anything I've been doing that makes it busy but, hey, must've been doing something.........right???

Ryans seizures are the pits just now - his night-time breathing is also atrocious. We're trying to figure out how to adapt a sleep system - coz his spine is not great - that allows him to sleep sitting up or lying on his side..............supposedly the best positions for 'good breathing'!!!

Sooooooooooooo not the best positions for us to be allowed to sleep at night!!!

Just don't know what more we can do, we're now up to him at least twice a night to change his position or nappy - coz this boy can pee for Scotland - I'm shattered.........................

Add into that, trying to sleep whilst listening to horrible obstructive breathing or the dreaded noises of a seizure - but hey, who needs sleep eh????

MMMMMMMMMMMEEEEEEEEEEEEEEEEEEE!!!!!!!!!!!!!!!!!!!!!!

The school doc is hopeful she can arrange some sort of multi-disciplinary meeting with all the experts involved in Ryans care. Not holding out much hope for success - each one either says 'its not their area of expertise' or says 'nothing more they can do'. Its totally carp being told 'yep there is a problem but we're not really gonna do anything about it'.

OK, I know they don't quite word it like that but its how it feels sometimes!! We also asked her to tell his neuro that he's started with his full-body thrashy type seizures again. This was last Tues and so far - nowt from anyone!! Its OK though, I'm sure its much more important that they can go home and sleep soundly at night...................sigh!!!!

On Thurs this week we're also in hossie for Ryan to get the endoscopy and biopsies done. Another GA - fun - gotta love 'em!!!

Right, that's enough moaning for now - that must be about 2 weeks worth LOL!!

Julie x

Genetics today!

Well I have to be the worst blogger around!! Is there a bloggin 'frequency' rule???

Anyway, thanks to a reminder from a lovely lady (miss crazylady!) - here I am to update you all on the latest 'Ryan' saga!!

Today we met our geneticist along with a new 'Overgrowth Specialist' whom we'd never met before..........our old geneticist is handing ryan over to her as 6 years of dealing with our medical enigma has sent her over the edge!! Only kidding, but handing his case over makes sense as this new doc has many years experience working with kids with overgrowth syndromes - I'm gonna refer to them as OS from now on as that's a mega pain to type!!

So, she went through the usual hundred, million questions that we've answered AT LEAST a hundred million times before!! She was lovely about it all though, stopped and explained the significance of certain things, was happy when we interrupted or digressed..............for anyone who knows Craig, ask him about 'Ryan just being a wee baby'!!! *sigh* MEN!! She did the horrible ten minutes of describing him (whilst the original geneticist wrote it all down!) his ears are odd, large eyes, hands are wrong, feet are wrong, chest is wrong, Ryan is wrong.............you get my meaning..........but other than that bit she was pretty decent!!

She spoke to us about risk factors if we wanted to have another baby. Both geneticists feel its a de novo mutation he has which means its a one off - not something that has been passed from either me or craig or me + Craig. That in itself is such a huge relief, not sure really why but it is!!

The exciting part of all of this though is that the OS feels that there at least 6 other children within the OS Study who have very similar features and developmental issues as Ryan. No info is available on this yet and is unlikely to be for a good while but knowing that there is hope for an answer and maybe families who are in the same boat as us is very, very comforting!! We've 'signed on' to be part of this study too so we'll know more when the info comes through telling us all about it..............

So that's the latest - I think - I'll try to be a good blogger and be back soon!!

Julie x

Is it really almost a week.....

Where does the time go?? Cant believe its been a week since we heard the news. Feel a bit better (if thats even the right word??) about it, well most of the time at least............................I think........................sort of.............
Still got the genetics appt to get through, who knows what that'll bring!!

We went to the ENT appt last Tues, the outcome of all the tests investigating his poor night time breathing.....................wait for it............................raise his head or position him on his side!!! Scans, x-rays, repeated overnight monitoring - just to say that!! He's got a floppy airway and thats the only real solution for him! Haven't told the physio yet - she wants him lying nice and straight and flat in a sleep system - wonder who'll win this fight!! ;-)) Maybe I'll just tell her to contact the ENT consultant and let them argue it out...........I mean they only work in the same building and asking them to communicate with each other is obviously asking waaaaayyy too much!!

On Thurs we met with neuro and gastro doc. Went through all results regarding the reflux issue, next stage for Ryan is to go in for endoscopy and biopsies to check for ulcers and food allergies. Its already been booked for 12th March, wish it was sooner - hate the fact he's in so much pain but there's nothing much we can do.

On a more 'normal note' - its absolutely FREEZING here!! It reached -18 last night in some places - I HATE the snow..........wheelchairs + snow = one of two things - a comedy incident (which really means 'embarrasing'!) or a major accident (normally involving an injury to yourself as you sacrifice your own safety to prevent injury to child!!) Did I already mention I HATE the snow. Its forecast to getting really cold again tonight - oh joy!!!!

Julie x

Not a good day.........

Well I guess that's what happens when you cant wait for an appt - the geneticist replied today and it wasn't good news. The CGH Array didn't find anything - no diagnosis for Ryan.
Some people might think that its good that they didn't find anything but no.....................

To say we're gutted is an understatement - me more so than Craig as he isn't as desperate as me to find a diagnosis. I knew it would hit me hard but never expected it to be this bad. I feel sick, lost, just empty inside really.

I was really hoping with all my energy that they'd find something - this is the 'last chance' test for us. Genetics have nowhere else to turn, no other tests they can try, no other syndromes they're 'convinced' he has. Maybe this is why I feel so empty, maybe I feel like we've come to the end of something - I don't know what though. I can't believe he's very nearly 6 and we're no closer to an answer - have we really put him through all those blood tests, skin biopsies, muscle biopsies, x-rays, scans, MRI's, those really not nice tests involving tiny amounts of electricity passed through his tissue - has it all been for nothing?? Have we really subjected him to it all just to be told 'sorry still haven't got a clue'??!!

I wish with all my being that this could've been different................

Julie x

What will this week bring..........

Well Ryan and I had a pretty quiet and non-eventful weekend. The only down side was the noticeable difference with Ryans eating.
A couple of months ago Ryan had a pH study done which showed he had severe acidic reflux for over 80% of the 24hrs he was monitored!! This was a bit of a surprise to us and definitely the docs!! A discussion on the phone with his neuro (dont ask!!) and she informed us that its pretty likely he's gonna need a gastrostomy.
Lots of mixed emotions from myself and Craig but I guess we ended up getting to the point of accepting he's in pain and this will hopefully help.

Fast forward to last week and another meeting with neuro (again dont ask!!!) and got a 'different' impression from her............gastro maybe not looking so definite!! Came out of there not knowing what the heck was going to happen with him. Nae good!!
At various points throughout last week, Ryan has also been sick and he is never sick, not even as a baby. Towards the end of last week he was starting to 'object' to food too...............normally Ryan is a brilliant eater - not at all fussy as long as the consistency is right!!! Today he refused to each lunch at school - this is SO NOT like him!!

Tomorrow we have an(other!) appt with ENT regarding the difficulties he has breathing when he's sleeping - resp doc says 'its upper airway so nothing he can do' but ENT doc 'cant see any obstructions so not much he can do'!! Got the funniest feelings it going to be another one of those total fob off, waste of time appts!!

Anyway, there is a point to the above ramble...........hopefully his weight will be checked tomorrow which will show us if he's now losing weight.............hopefully he's just had a growth spurt and that's making him look skinny...........................

On Thurs we have the meeting with the neuro (you know the score.....*sigh*) and the gastroenterologist to discuss 'what happens next'.

So please think of us tomorrow and Thurs..............fingers and toes crossed we get some sort of 'positive outcome' from them both!!

Oh and I also folded and emailed the geneticist - very bad I know but I just couldn't wait any longer................she told us a few months ago that we'd get another appt to see her when the results of the CGH Array were back. We have had the appt through since new year but today I crumbled and asked her if the test found anything. There is no way I could sit in her office and hear the words 'I'm sorry but it didn't find anything'. There is so much riding on this result - if they dont find anything then she has said there isn't much more they can do, he's almost 6 years old and and to hear that would crush me.................

Haven't heard back from her yet - which is killing me!! Hasn't this woman an OUNCE of decency!! ;-)) I was born with the pretty huge genetic defect of having absolutely NO PATIENCE and she's making me ill!! ;-)))) That meeting is on 18th Feb - exactly one week before Ryans birthday......................

Julie x

Where to begin.......

I've started this blog about a thousand times and each time it sounds totally naff!! Not witty or smart or just downright interesting like so many of the others I've read..................I hope this is not a sign of things to come............however having said that, I guess its you, the poor reader who'd suffer - oh dear, no pressure then.....................

I imagine that if you're reading this though, you must know me on some level so apologies for the stating of the obvious!! I'm Julie, partner to Craig and mum to the above mentioned Natered Norman (will mostly be referred to as Ryan throughout this though)!! For those of you who don't know what natered means I guess the best I can do - given that I CANNOT for the life of me find a true translation - is ill tempered. He's also fondly referred to as Moany Minnie and the Moanster. Are you noticing the trend here??? Shame, poor wee mannie doesn't really deserve those names..............all of the time!! He CAN moan wi the best of them though!!

Ryan will be 6 at the end of Feb. Our journey with him has been pretty long and very, very difficult at times. We've been down some scary roads, the worst of which was being told he had a degenerative condition and then the second scariest was probably being told he didn't. This is very hard to explain but we spent months putting him through various tests to find out which one, trying desperately to come to terms with the fact we were losing our special boy to then have the floor swiped out from under us and be told he didn't have a degenerative condition. We were beyond terrified - too scared to believe the news, too scared to accept someone had misread scans or 'imagined' seeing something that wasn't there. Imagine living with the diagnosis of terminal cancer to then be told, many months later, that it was a mistake?? That initial diagnosis still haunts us, but thankfully he doesn't seem to be regressing so thats a HUGELY positive sign!!

Fast forward to today, he attends a fantastic special needs school. Cannot communicate, sit unaided, stand or walk and is completely dependant in all areas of his care. However, he makes his mood quite clearly known!! Doesn't enjoy sitting on his own or having to wait his turn, loves 1-1 attention, hates physio, loves hydro and rebound therapy, like noisy things - however NOT things that play music!! He is our 'lazy boy' and lives by the saying 'why have a dog and bark yourself?'

He's a very big boy for his age, something that continues to confuse everyone involved with him from the medical profession. He also has 'abnormal looking' and 'very sparse' white matter in his brain which has them equally stumped. Repeatedly they tell us 'we know what his condition is' and EVERY SINGLE TIME he proves them wrong. He is our medical enigma!!!

I desperately hold out for the day someone will say 'he has..................'. Having faced the bleakest of futures, I need to know what he's up against!! Hard for many to understand, why continue to put him through these tests, why not just let him be...............but I can't - not just yet..............

There are many tests being carried out just now, many results being waited on but I'll leave them for another day........................