Thought I'd show you all a little progression in my handling the new diagnoses. Best way to do so is through a little blog post I did for the wonderful Different Iz Good.
Momentary Perspective Post for DIG
xx
Tuesday, 17 May 2011
Wednesday, 11 May 2011
18-22+2-6-7-15-19-x-x-
Yep, the title of this post is a jumble of numbers and symbols and I'm here writing to try to clear the mangled contents of my brain as a result of the above information. So please excuse me if today's post is blurry and a bit erratic.
A few months ago we embarked on a new microarray test for my little man because of something the clever guys at Chromosome 18 had found on analysing our blood samples for the study. At the time I allowed myself to be a bit fuzzy and confused and latently concerned until I could react for real at whatever we the test confirmed. This is how I felt then Even More Special Post and this is how I feel now.
First the Facts
The microarray technology is now widely available and extremely detailed, and it has therefore shown that what L in fact has is 18p- and 22q duplication. So a bit missing from Chromosome 18's short arm and a bit extra on Chromosome 22's long arm. Both of these are registered genetic disorders. On top of that it seems that 7 other chromosomes have copy number changes going on too, although very small so not recognised as syndromes. That means that throughout my miracle boy's body he's got too few copies of genes in some places and too many in others, and this doesn't necessarily balance out into a neat mathmetical equation. If only that were so.
Then the Bad Feelings (imagine me stamping my foot red faced and tear-stained)
I mean, really???????
Wasn't one extremely rare-hard to understand-worrying genetic disorder enough????
Does he really have to have two phenotypes that I have to pay attention to and invisibly sew their archive of into my brain?????
Does he really have to be this frigging rare and unique and special?????
Have I really worked this hard and replaced so much of my brain storage on this one condition to now have to find room for another and try not to worry about what the other 7 little things might mean I have to know about???
Do I really have to go and search out another virtual family of lovely kind parents and say "Hi, New to the Group?"????
I don't want this. I don't even wish I'd known it 4 years ago when we got the diagnosis. I just, for the first time ever don't want any any part of it.
Now to force seeing the Good
If I'd known this 4 years ago with my head how it was then it's doubtful I'd have found my Chromosome 18 family.
Not one number or letter revelation makes an ounce of difference day to day for my amazingly fortunate and typically developing boy
I always kind of knew that he wasn't quite the same as the other 18p- kids and so I'm glad my instincts still work and there's a reason for those feelings of unquiet
Knowledge I guess is power and it's not like I was ever going to be able to relax and say "ok, mothering is all done now"
I'm not being kicked out of the organisation I have grown into. I will still do my fundraiser, I will still sit on that management committee, I will still wear my badge with pride.
This propels me back to the world of the wonderful charity Unique and makes me more determined to do anything I can for Jeans For Genes in addition to sitting on their Parent Advisory Group.
But it does feel quite shit. I do feel a bit wrung out when I allow myself to sit and write and think about it.
I'm going to refer to the lovely Wisteria one more time to try to end on something less black.
She's almost done revealing her amazing blooms. The leaves will remain for longer but essentially she's about to recede into anonymity and tangled confusion once more.
As such I hope that this riot of taste and smell and colour and confusion of these results will burn bright and then die down.
However long it takes I know I'll soon be back watching my boy, mothering my boys and trying to balance the elements in my life and appreciate all the amazing things we have.
Thanks for listening. Hope to be done with blooming soon.
A few months ago we embarked on a new microarray test for my little man because of something the clever guys at Chromosome 18 had found on analysing our blood samples for the study. At the time I allowed myself to be a bit fuzzy and confused and latently concerned until I could react for real at whatever we the test confirmed. This is how I felt then Even More Special Post and this is how I feel now.
First the Facts
The microarray technology is now widely available and extremely detailed, and it has therefore shown that what L in fact has is 18p- and 22q duplication. So a bit missing from Chromosome 18's short arm and a bit extra on Chromosome 22's long arm. Both of these are registered genetic disorders. On top of that it seems that 7 other chromosomes have copy number changes going on too, although very small so not recognised as syndromes. That means that throughout my miracle boy's body he's got too few copies of genes in some places and too many in others, and this doesn't necessarily balance out into a neat mathmetical equation. If only that were so.
Then the Bad Feelings (imagine me stamping my foot red faced and tear-stained)
I mean, really???????
Wasn't one extremely rare-hard to understand-worrying genetic disorder enough????
Does he really have to have two phenotypes that I have to pay attention to and invisibly sew their archive of into my brain?????
Does he really have to be this frigging rare and unique and special?????
Have I really worked this hard and replaced so much of my brain storage on this one condition to now have to find room for another and try not to worry about what the other 7 little things might mean I have to know about???
Do I really have to go and search out another virtual family of lovely kind parents and say "Hi, New to the Group?"????
I don't want this. I don't even wish I'd known it 4 years ago when we got the diagnosis. I just, for the first time ever don't want any any part of it.
Now to force seeing the Good
If I'd known this 4 years ago with my head how it was then it's doubtful I'd have found my Chromosome 18 family.
Not one number or letter revelation makes an ounce of difference day to day for my amazingly fortunate and typically developing boy
I always kind of knew that he wasn't quite the same as the other 18p- kids and so I'm glad my instincts still work and there's a reason for those feelings of unquiet
Knowledge I guess is power and it's not like I was ever going to be able to relax and say "ok, mothering is all done now"
I'm not being kicked out of the organisation I have grown into. I will still do my fundraiser, I will still sit on that management committee, I will still wear my badge with pride.
This propels me back to the world of the wonderful charity Unique and makes me more determined to do anything I can for Jeans For Genes in addition to sitting on their Parent Advisory Group.
But it does feel quite shit. I do feel a bit wrung out when I allow myself to sit and write and think about it.
I'm going to refer to the lovely Wisteria one more time to try to end on something less black.
She's almost done revealing her amazing blooms. The leaves will remain for longer but essentially she's about to recede into anonymity and tangled confusion once more.
As such I hope that this riot of taste and smell and colour and confusion of these results will burn bright and then die down.
However long it takes I know I'll soon be back watching my boy, mothering my boys and trying to balance the elements in my life and appreciate all the amazing things we have.
Thanks for listening. Hope to be done with blooming soon.
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