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
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
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
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
