Imagine living with someone who has something so rare that you have never met anyone else like you
Imagine the joy of finding a group of scientists that are committing themselves and their life's work to your child's condition.
Imagine that child being one of a thousand or so in the world affected
Imagine as a parent finding a virtual world of parents out there who guide and inform you
Imagine being happy for them when each year they make it across the USA and meet at a conference with all the scientists and families
Now imagine a small but formidable European branch of this programme arranging a conference in Scotland at the end of July for those who can't see how they'll ever make it to the US one
And imagine how hard it is to raise money for something so small in a world where there's so much need
Now if you can, imagine giving a little, anything you can, to www.chromosome18eur.org, Chromosome 18 Registry and Research Society (Europe) Charity Number SC040399
Thank you for letting me hijack your imagination and for anything you can do.
Thursday, 29 April 2010
Journey to Statement - 2.1 - and the disappearing "u"
Slight change of plan following a chat at J's school today with the headmaster and inclusion teacher/SENCO.
They are delighted that we're so ahead of ourselves and were kind and generous with their immediate engagement and offers of help. They think that instead of doing a parent request for a statutory assessment, that we should work on what we have already in our locker. Something we have the time and ability to do because we're so ahead of the curve.
So we need to get ourselves an Educational Psychologist assessment and see if our current Kindergarten setting are willing to co-ordinate the Statutory request, adding in their own report, the paediatrician's medical report, our keyworker and whatever the Ed Psych says, alongside our parental letter.
It was a great meeting with this school that I know will be as wonderful for our complicated L as it is for our typical J. I talked, listened, and wrote a few things down on the fat and ominous envelope I trudge around with me in my handbag.
But I'm also quite sad writing this, and seem to be doing quite a good job of half remembering and mainly forgetting some of the stuff that perhaps was a bit upsetting to hear.
The kind of comments that come from my mind and mouth, but that I'm not sure I really believe even though they're part of my patter. Things that secretly I've been saying without huge inner conviction because they kind of break my heart.
"He may not always be this good". "He may stall". "He's a genetic timebomb and I'm just waiting for the bad stuff to start". "He might not always be this lucky"
These are the perils of a parent of a child with a "disability" who's not yet shown how it will really manifest itself.
This lovely experienced SENCO seemed to think that these things I say are actually on the button and probably in our future. We matched speech patterns as polite strangers do, me talking in such an informed and matter of fact way, which allowed her to reply in kind, believing I was all I seemed.
Right now a tear is trickling at the confirmation of my concerns about retention. L has a wonderful brain and learns when you show him, but struggles to discover and possibly has flaws in his longterm memory.
Like recently, he's lost the "u" from his name when I ask him how to spell it.
It's just disappeared.
It's not a big deal, it's not a disaster, but it's a portent of something darker for me and one that again buts up against the tough stuff.
The fact that he needs more than even the "more than normal" stimulation we try to ensure. Perhaps more than I can give working full time and more than a life lived by remote control during the daytime can offer.
It's so hard not to jump too far ahead, but I know I have to help myself by not letting the fear in. By opening my eyes, seeing it and then stopping being frightened, returning to the safe place that is loving him for what he is, what he has and all he can be.
But on his terms
And in his time
They are delighted that we're so ahead of ourselves and were kind and generous with their immediate engagement and offers of help. They think that instead of doing a parent request for a statutory assessment, that we should work on what we have already in our locker. Something we have the time and ability to do because we're so ahead of the curve.
So we need to get ourselves an Educational Psychologist assessment and see if our current Kindergarten setting are willing to co-ordinate the Statutory request, adding in their own report, the paediatrician's medical report, our keyworker and whatever the Ed Psych says, alongside our parental letter.
It was a great meeting with this school that I know will be as wonderful for our complicated L as it is for our typical J. I talked, listened, and wrote a few things down on the fat and ominous envelope I trudge around with me in my handbag.
But I'm also quite sad writing this, and seem to be doing quite a good job of half remembering and mainly forgetting some of the stuff that perhaps was a bit upsetting to hear.
The kind of comments that come from my mind and mouth, but that I'm not sure I really believe even though they're part of my patter. Things that secretly I've been saying without huge inner conviction because they kind of break my heart.
"He may not always be this good". "He may stall". "He's a genetic timebomb and I'm just waiting for the bad stuff to start". "He might not always be this lucky"
These are the perils of a parent of a child with a "disability" who's not yet shown how it will really manifest itself.
This lovely experienced SENCO seemed to think that these things I say are actually on the button and probably in our future. We matched speech patterns as polite strangers do, me talking in such an informed and matter of fact way, which allowed her to reply in kind, believing I was all I seemed.
Right now a tear is trickling at the confirmation of my concerns about retention. L has a wonderful brain and learns when you show him, but struggles to discover and possibly has flaws in his longterm memory.
Like recently, he's lost the "u" from his name when I ask him how to spell it.
It's just disappeared.
It's not a big deal, it's not a disaster, but it's a portent of something darker for me and one that again buts up against the tough stuff.
The fact that he needs more than even the "more than normal" stimulation we try to ensure. Perhaps more than I can give working full time and more than a life lived by remote control during the daytime can offer.
It's so hard not to jump too far ahead, but I know I have to help myself by not letting the fear in. By opening my eyes, seeing it and then stopping being frightened, returning to the safe place that is loving him for what he is, what he has and all he can be.
But on his terms
And in his time
Wednesday, 28 April 2010
Journey To Statement - 2.0
I have an apology to make to the aforementioned community paediatrician. It's an apology I'm very happy to be making because it means I was wrong and can now add her to the list of medical people who get it and who I can trust.
She goes a bit further because she can see and hear me without me jumping up and down and shouting. Having written a great report from our meeting, and followed up the kidney thing independently, today in a meeting just for me she listened, responded, intuited and without being pressed, offered to be across L's case until he goes to school.
Apologies are also going out to my keyworker, who, after a very long and emotional email from me responding to the Team Around the Child suggestion, stopped me when she saw me in the neighbourhood and we discussed things. She'd been thinking, talking to people and digging, and had come to the conclusion I had which was that I should apply for a statutory assessment and take it from there. She offered that J's school, who we're seeing tomorrow, can talk to her at any time if that would be helpful.
So I now have wonderful practical advice and letter structure from my friend K, a medical report being compiled by the paediatrician, a meeting tomorrow at the school and a keyworker ready to respond to whatever I may need her to do. Alongside, of course, the support and help of L's nursery and head teacher.
So today, is a good day.
She goes a bit further because she can see and hear me without me jumping up and down and shouting. Having written a great report from our meeting, and followed up the kidney thing independently, today in a meeting just for me she listened, responded, intuited and without being pressed, offered to be across L's case until he goes to school.
Apologies are also going out to my keyworker, who, after a very long and emotional email from me responding to the Team Around the Child suggestion, stopped me when she saw me in the neighbourhood and we discussed things. She'd been thinking, talking to people and digging, and had come to the conclusion I had which was that I should apply for a statutory assessment and take it from there. She offered that J's school, who we're seeing tomorrow, can talk to her at any time if that would be helpful.
So I now have wonderful practical advice and letter structure from my friend K, a medical report being compiled by the paediatrician, a meeting tomorrow at the school and a keyworker ready to respond to whatever I may need her to do. Alongside, of course, the support and help of L's nursery and head teacher.
So today, is a good day.
Friday, 23 April 2010
Brotherly Love
Been meaning to learn how to put photos on this site.
This is my first attempt and with two little people very close to my heart.
I was looking back at old photos and was struck by how many of my boys had this gorgeous affection in them, totally natural.
This first is from 2006. I love the smile of my soon to be magic L, secure in the love of an older brother. At this stage, following a really worrying pregnancy, we weren't back in worry land yet and were just enjoying our new baby.
Here it's 2007. Things were clearer, we knew more, in fact we knew less, and we didn't even know how little we knew but one thing very clear was how hard it felt. But these two brothers in their bubble seemed to know and understand everything important.
Taken on Grandma's 70th birthday, back in February 2010. Now we "know" L's genetic disorder. We all know it's name. We all know that he finds some stuff more difficult and sometimes gets a bit ill. But these brothers who share a room, who play and fight and play some more, know that brothers are something to be cherished.
And cherish them we all do.
Every little curl and smile.
Wednesday, 14 April 2010
The Ghosts of Christmas Future
I've been remembering a visit we took back in 2007 to the spinal unit at Great Ormond Street. L had been diagnosed with 18p- a few months earlier and we were there as part of the raft of tests to check out what was and wasn't looking problematic.
Having felt the little curve in his spine forever and asked for an appointment to check, we were told he had kyphosis, a c curve in his spine, and that he needed to be fitted for a spinal brace. Besides the respiratory issues and slight delays that had brought us to our diagnosis in the first place, this was the first time we had it confirmed that things were different. The word Deformity was used soon into our appointment and I had to stop the consultant immediately and remind him I was a mum, a human being, and he was telling me something I didn't already know, so please be gentle. To his credit, he was.
So this day, we were back as a family to have L measured for his brace, a very upsetting thing for him and us. In the waiting room D, J, L and I sat playing and thinking and trying to be brave, surrounded by children who all seemed so frightening to us and our apparently "typical" boy at that stage.
I started to talk to a friendly woman who had a boy, about 7 who was quite developmentally delayed and who had a brace on and was in a large buggy/wheelchair. In the course of our chat I mentioned our still raw diagnosis and she said that her son too had a complication with Chromosome 18. She then, with the best of intentions, proceeded to bombard me with information, help, advice, comparisons between our children and a barrage of words and thoughts and emotions that I didn't really know how to compute. And as I talked to her and continued our conversation, trying to take it in, trying to have a small reaction because I knew she meant well, D built a silent brick wall around himself and zoned in on playing with the kids and making her, and himself, disappear.
We had our appointment, L screamed as we stretched him on a rack and kept him still to take the mould, D withdrew further into himself, still in the denial that shrouded him for so long back at the start of this, and I buried all the feelings.
A few days later I went to a weekend with my university girls, something we still do annually and will I hope continue to. I was not myself, I was very stressed and quiet and my friends, bless them, really didn't know what to do as it was all so new. Early on before everyone arrived I think I blurted out how screwed up my head had been from meeting this woman, on that day, with the appointment and everything around it. How even though she'd be mortified to think she did this, she completely took me by surprise and made things a lot worse in my head. And I really didn't think it COULD get worse at that point, lonely as I was, my darling sis having just emigrated to NZ, my local family all hurt, frozen by their denial, my having not worked for so long, the pressure piling up and it all feeling so very very hard.
A few months later I found the Chromosome 18 Registry (http://www.chromosome18.org/) and a whole world of people who lived a life similar to me and who immediately took me to their hearts. I started to post emails, treasure the replies and begin to make the friends and get the advice that has become so important to me.
I used to describe the C18 lot, as I did this woman in the waiting room, as the Ghosts of Christmas Future, who in talking about their lives were showing me things that may be part of mine as L grows and unfurls himself.
But these parents, these wonderful few, enrich my life and make me look at everything I need to see, and it comes forward to the front of my mind when I need to see it.
They are my lifeline and although sometimes overwhelming with the detail of all they go through, something I really couldn't do without.
I've only today told them about this blog, gently emerging as I am into the public with it.
so for any of you who stumble here out of loyalty and/or curiosity, thank you for all you cope with and all you are and for making our journey sweeter and more informed.
Having felt the little curve in his spine forever and asked for an appointment to check, we were told he had kyphosis, a c curve in his spine, and that he needed to be fitted for a spinal brace. Besides the respiratory issues and slight delays that had brought us to our diagnosis in the first place, this was the first time we had it confirmed that things were different. The word Deformity was used soon into our appointment and I had to stop the consultant immediately and remind him I was a mum, a human being, and he was telling me something I didn't already know, so please be gentle. To his credit, he was.
So this day, we were back as a family to have L measured for his brace, a very upsetting thing for him and us. In the waiting room D, J, L and I sat playing and thinking and trying to be brave, surrounded by children who all seemed so frightening to us and our apparently "typical" boy at that stage.
I started to talk to a friendly woman who had a boy, about 7 who was quite developmentally delayed and who had a brace on and was in a large buggy/wheelchair. In the course of our chat I mentioned our still raw diagnosis and she said that her son too had a complication with Chromosome 18. She then, with the best of intentions, proceeded to bombard me with information, help, advice, comparisons between our children and a barrage of words and thoughts and emotions that I didn't really know how to compute. And as I talked to her and continued our conversation, trying to take it in, trying to have a small reaction because I knew she meant well, D built a silent brick wall around himself and zoned in on playing with the kids and making her, and himself, disappear.
We had our appointment, L screamed as we stretched him on a rack and kept him still to take the mould, D withdrew further into himself, still in the denial that shrouded him for so long back at the start of this, and I buried all the feelings.
A few days later I went to a weekend with my university girls, something we still do annually and will I hope continue to. I was not myself, I was very stressed and quiet and my friends, bless them, really didn't know what to do as it was all so new. Early on before everyone arrived I think I blurted out how screwed up my head had been from meeting this woman, on that day, with the appointment and everything around it. How even though she'd be mortified to think she did this, she completely took me by surprise and made things a lot worse in my head. And I really didn't think it COULD get worse at that point, lonely as I was, my darling sis having just emigrated to NZ, my local family all hurt, frozen by their denial, my having not worked for so long, the pressure piling up and it all feeling so very very hard.
A few months later I found the Chromosome 18 Registry (http://www.chromosome18.org/) and a whole world of people who lived a life similar to me and who immediately took me to their hearts. I started to post emails, treasure the replies and begin to make the friends and get the advice that has become so important to me.
I used to describe the C18 lot, as I did this woman in the waiting room, as the Ghosts of Christmas Future, who in talking about their lives were showing me things that may be part of mine as L grows and unfurls himself.
But these parents, these wonderful few, enrich my life and make me look at everything I need to see, and it comes forward to the front of my mind when I need to see it.
They are my lifeline and although sometimes overwhelming with the detail of all they go through, something I really couldn't do without.
I've only today told them about this blog, gently emerging as I am into the public with it.
so for any of you who stumble here out of loyalty and/or curiosity, thank you for all you cope with and all you are and for making our journey sweeter and more informed.
Saturday, 10 April 2010
Bloggging on the move
I'm in the car on a sunny day, listening to Joseph, with the boys playing sweetly in the back.
We're making the most of a sunny day off for lunch at friends in Sevenoaks.
Today we have a sneezy rattly and defiant little boy with a constant trace of protein going on. But now I know there's a team at GOS ready to look and test and see if there's anything to worry about, I'm way more relaxed.
So I can enjoy the good stuff:
The sun
The four of us
My kind clever sensitive big boy
The stubborness of my little boy because, hard to parent as it is,he needs those tools in his locker.
The singing from the backseat
The questions from the backseat
And the lovely daddy in the front
We're making the most of a sunny day off for lunch at friends in Sevenoaks.
Today we have a sneezy rattly and defiant little boy with a constant trace of protein going on. But now I know there's a team at GOS ready to look and test and see if there's anything to worry about, I'm way more relaxed.
So I can enjoy the good stuff:
The sun
The four of us
My kind clever sensitive big boy
The stubborness of my little boy because, hard to parent as it is,he needs those tools in his locker.
The singing from the backseat
The questions from the backseat
And the lovely daddy in the front
Thursday, 8 April 2010
Snail slug update - mainly for myself you understand...
ok, so the snails at last night's garden party I'm guessing are common garden snails and they either lay eggs in dark soily places (like the soil under my bushes next to the path) and or give live birth. I'm guessing either method could explain their presence there last night.
slugs are hermaphrodite it seems, so they don't need the rentals around for them to emerge from the soil where they've been growing, or hatching...
it's not very scientific but it has answered a few questions for me.
and I'm not going back to find out exactly how it works, because the pictures on the websites I've been looking at are altogether too slimy.
I thank you.
slugs are hermaphrodite it seems, so they don't need the rentals around for them to emerge from the soil where they've been growing, or hatching...
it's not very scientific but it has answered a few questions for me.
and I'm not going back to find out exactly how it works, because the pictures on the websites I've been looking at are altogether too slimy.
I thank you.
Great Ormond Street...oh and snails
Every so often I like to get a big old dose of perspective on my life, particularly when I'm sliding into that terrible land called self pity. So I watched BBC 1's documentary about the cardiac unit at GOS on i-player yesterday, and leaked tears throughout.
Great Ormond Street is the one place I've found where the respect for parents and children alike, informs every conversation you have with every person there. It's a place where no matter how different your child may look or feel in normal life, they fit in there and indeed, in our case, feel painted with luck and fortune around so much more challenging conditions.
The wonderful Dr Phil Rees was on screen a lot on this programme, showing his compassion and humanity at every point, more than a doctor but all a doctor should be. Seeing the children who were featured, and their families, it's hard not to be incredibly moved and sad that they have to face the kind of thing a parent fears most. But seeing all of these terribly ill children made me appreciate even more the happiness in Dr Rees's face last month when he told me that Louis' heart was clinically normal. That was amazing to hear for me, and I suspect something he relishes as a doctor when so much of what he sees and delivers is painful to all involved.
So watch the show, if you want to open your soul up.
Now, then, a question about snails...possibly inappropriate after the above.
Last night on my path in North London, there was a veritable snail birthing clinic in existence. Mummy snails, Daddy snails, midwives too I suspect, and tiny weeny baby snails all over the place. All perilously close to being squished were I not so sharp sighted and security light so good. But alongside the teeny tiny snails with their teeny tiny shells, were teeny tiny snails without shells, which I assume were slugs.
So question is, do the snails give birth to slugs too? Are snails and slugs related? Are snails surrogates for slugs because there were no adult slugs to be seen? Like anywhere.
I'm very confused.
So I'm off to google it all now and if it's interesting, might report back
Great Ormond Street is the one place I've found where the respect for parents and children alike, informs every conversation you have with every person there. It's a place where no matter how different your child may look or feel in normal life, they fit in there and indeed, in our case, feel painted with luck and fortune around so much more challenging conditions.
The wonderful Dr Phil Rees was on screen a lot on this programme, showing his compassion and humanity at every point, more than a doctor but all a doctor should be. Seeing the children who were featured, and their families, it's hard not to be incredibly moved and sad that they have to face the kind of thing a parent fears most. But seeing all of these terribly ill children made me appreciate even more the happiness in Dr Rees's face last month when he told me that Louis' heart was clinically normal. That was amazing to hear for me, and I suspect something he relishes as a doctor when so much of what he sees and delivers is painful to all involved.
So watch the show, if you want to open your soul up.
Now, then, a question about snails...possibly inappropriate after the above.
Last night on my path in North London, there was a veritable snail birthing clinic in existence. Mummy snails, Daddy snails, midwives too I suspect, and tiny weeny baby snails all over the place. All perilously close to being squished were I not so sharp sighted and security light so good. But alongside the teeny tiny snails with their teeny tiny shells, were teeny tiny snails without shells, which I assume were slugs.
So question is, do the snails give birth to slugs too? Are snails and slugs related? Are snails surrogates for slugs because there were no adult slugs to be seen? Like anywhere.
I'm very confused.
So I'm off to google it all now and if it's interesting, might report back
Saturday, 3 April 2010
Kidneys
It's always good and bad when I'm proved right.
Having got bored of waiting for Barnet to take me seriously and tell me about the proteinuria samples and all of that, I decided to contact Great Ormond Street myself. On Thursday, finally this double pronged approach to ever getting a kidney referral seemed to converge.
As I was on the phone to Great Ormond Street finding out how I find out when I might get an appointment, Barnet hospital were calling my home to tell me that we weren't going to see me there, but that they needed to send us to Great Ormond Street.
I got home from work to hear about Barnet and then the very nice admin man from renal at GOS called to advise me as I'd requested, so I could tell him about him now seeing two referral letters. He assured me, finally, that we were now in the system and that we didn't need things from Barnet as they'd do all of their own tests there.
I first started looking at this for myself in April 2009.
I first saw a registrar about it in November 2009.
I first got blood and urine tests done on New Year's Eve 2009.
We did two more subsequent urine tests and blood pressure readings, with me only knowing they were high.
I've been trying to get clarity for months.
I've been waiting ever since.
And the community paediatrician who told me we would probably just get bumped back to a registrar, much to my quiet annoyance, is wrong. Just as I knew.
I can't wait to tell her in a few week's time.
Here's to clarity.
Here's to being wrong about what we're looking at and what it'll mean.
Having got bored of waiting for Barnet to take me seriously and tell me about the proteinuria samples and all of that, I decided to contact Great Ormond Street myself. On Thursday, finally this double pronged approach to ever getting a kidney referral seemed to converge.
As I was on the phone to Great Ormond Street finding out how I find out when I might get an appointment, Barnet hospital were calling my home to tell me that we weren't going to see me there, but that they needed to send us to Great Ormond Street.
I got home from work to hear about Barnet and then the very nice admin man from renal at GOS called to advise me as I'd requested, so I could tell him about him now seeing two referral letters. He assured me, finally, that we were now in the system and that we didn't need things from Barnet as they'd do all of their own tests there.
I first started looking at this for myself in April 2009.
I first saw a registrar about it in November 2009.
I first got blood and urine tests done on New Year's Eve 2009.
We did two more subsequent urine tests and blood pressure readings, with me only knowing they were high.
I've been trying to get clarity for months.
I've been waiting ever since.
And the community paediatrician who told me we would probably just get bumped back to a registrar, much to my quiet annoyance, is wrong. Just as I knew.
I can't wait to tell her in a few week's time.
Here's to clarity.
Here's to being wrong about what we're looking at and what it'll mean.
Offstage left
...I'm hearing the sweet sound of Daddy cooking the boys his famous Passover dinner.
As I sit in here, updating the diary, messing around looking at fb and blogs, looking up to watch the birds in the garden every now and then, these have been my favourite comments:
I've never had a fried egg before.
What's vorscht? This? Oh that's my favourite.
Well, if you finish what's on your plate we'll see about dessert.
Shall we share this matzoh L as you're not going to finish it.
Ah.
Lovely Easter Pesach bank holiday weekend
All is well
As I sit in here, updating the diary, messing around looking at fb and blogs, looking up to watch the birds in the garden every now and then, these have been my favourite comments:
I've never had a fried egg before.
What's vorscht? This? Oh that's my favourite.
Well, if you finish what's on your plate we'll see about dessert.
Shall we share this matzoh L as you're not going to finish it.
Ah.
Lovely Easter Pesach bank holiday weekend
All is well
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