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Archive for the ‘Cystic Fibrosis’ Category

Carrier Status. . .

OLYMPUS DIGITAL CAMERAIt’s been a strange week.  One of those weeks that you remember for all the wrong reasons.  Today I found out that I’m a carrier of Cystic Fibrosis.  As many of you will know my grandson Archie, born in March of this year, is a CF sufferer.  When we first found out he had it we knew, because that’s the way the genetics work, that Archie’s mum and dad [my son] are both carriers.  They have to be to produce an affected child ~ there’s a one in four chance.  However, that then meant that either I and/or my son’s dad had the potential to be carriers as well.  So, after a lot of faffing about at the GP’s with no one seeming to know quite how I should be tested, I sent off a blood sample to be genetically screened at Oxford.  I’m not sure what I thought the result was going to be but I was really surprised when my doctor rang this evening and told me I was positive for carrier status.  Possibly I was up that famous river, De Nile…..

We all know that we are the product of our parents [so one or both of my parents must have been a carrier too] and our genetic make-up is totally out of our control.  I know I’m not to blame, nor is my son or his partner ~ it just is what it is.  So why do I feel so responsible?  It’s very strange, my head tells me there’s nothing I could have done but my heart is breaking for this little life and the lives of his parents who will forever carry this with them.  I think it’s just that we want to protect our children from hurt and harm, even when they’re grown up.  We want to make everything right, but I can’t put this right, not ever.

There are also the implications this has for my other children.  Both Ethan and Millie will have to be tested for carrier status at some point.  For Ethan it’s not necessary until he’s an adult but for Millie, who is in a stable relationship, that time is really now.  I’m a great believer that knowledge is power so the more we know the better I like it.  Who knows, by the time Ethan is old enough to be considering a family there may even be a cure on the horizon.

So, really this is just me sharing my heart with the world tonight.  Nothing of particular interest to most people, just the ramblings of a fifty-one year old woman who has suddenly realised that actually, given that one in twenty-five of us in the UK is a carrier of CF, I’m very lucky not to have had an affected child.  I’ve been married more than once so my odds are increased by that fact alone. 

I remember sitting in a genetics lecture at uni in 2004 which was using CF as an example of inherited disorders and thinking, well at least I know I can’t be a CF carrier, my children are all fine.  Laughable huh?? xx

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Newsy update. . .

white daisiesOkay, so what bright spark ordered all this rain?  I mean, come on now people.  A bit of precipitation is always welcome to keep the grass green and the flowers perky but there are limits.  My violas and columbines are listing under the weight of all that water and our lawn is in danger of becoming a sponge as it squelches like a bog if you have to walk on it.  The dog takes one look out of the back door and heads straight back to her bed, deciding that the toilet break can wait a bit longer.  However, today we have had some respite as the sun has fought its way through, my towels are on the line drying nicely instead of fugging up my landing with their presence, and Ethan has finally had the chance to let off some much needed steam in the garden. 

As it’s half-term [which is probably why it’s raining] we would usually be out and about on our bikes but that has been impossible.  We went swimming yesterday, well if we’re going to be wet we might as well enjoy it.  It was good to have some exercise.  Today I’ve been out with an ex-colleague for a much anticipated morning coffee and chat.  It’s always a pleasure to have a proper catch-up and we found a lovely little coffee shop in Newport Pagnell which made divine ham and cheese toasties and a decent cappuccino.

We’ve also been on a nice long, family dog-walk and it was a joy to feel the warmth of the sun and enjoy the hedgerow flowers.

I have some news on the job front!  As I work in a school I cannot be too specific but I can tell you that I have a new job in a different primary school in MK.  I will still be a Teaching Assistant, but I will be on a better salary and have a permanent contract [I’ve been on a temporary contract for the last five years].  I have been ready for a new challenge for a while but sometimes you just need a push to make that change, and I’ve finally done it.  I’m very excited about this and I’m looking forward to the end of August when I start.  I will also have a couple of months sabbatical between jobs which will be absolutely lovely.  Time to sort things out at home and prepare for our summer break in the Lakes, and then a few weeks to get my head into ‘new job’ mode.

My new Chocolate Sundae blanket is coming along nicely.  I’ve nearly got to the stage when there’ll be something worth photographing so watch this space over the next few days. 

My little Devon kitten Willow has been spayed this week so she’s feeling mighty sorry for herself and is a permanent fixture on anyone’s lap who’ll sit still for long enough.   On the human medical front I’ve just been tested to see if I’m a carrier of Cystic Fibrosis because, as some of you may remember, my newest grandson has sadly recently been diagnosed with this genetic disorder.  I won’t get the results for a couple of weeks so we’re in a bit of limbo for a while. 

Well, I think that’s my news.  I hope everyone in the UK got some of the sun today and that it continues over the weekend so we can enjoy these last few days of half-term. 

 

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