I went to my first ever conference for bloggers last week. What an amazing experience to completely immerse myself in the world of blogging with hundreds of like minded women (and a sprinkling of men), hear some inspiring speakers, ask lots of questions and just have time to really think about where am I going with my writing.
An article appeared in the New York Times this week announcing a breakthrough in antenatal testing which is non-invasive so carries no miscarriage risk but could potentially identify up to 3,000 genetic diseases caused by gene mutations
At the moment antenatal screening is limited to a handful of know disorders such as Downs, or where there is an inherited risk such as Cystic Fibrosis. The definitive test involves an invasive procedure, either amniocentesis or CVS (chorionic villus sampling) to obtain genetic material in order to establish the baby's karyotype and whether they are carrying a known genetic disease.
Genome mapping and it's applications was in its infancy when Daisy was born but within a year the mutation for Costello Syndrome had been identified and there is now a theoretical chance that babies could be diagnosed antenatally with the syndrome. This new test also means that screening can be done for a huge range of known genetic syndromes without any risk of miscarriage. Pandora's Box has been opened....
When I was pregnant with Daisy, we were given a 1:4 chance of having a child with Downs. We had breezed into the scan, with a family holiday booked for the end of the week and feeling like we were old hands at this pregnancy game, that's when the first of the thousands of Daisy-shaped curve balls hit us. The consultant seemed to spend ages looking at the monitor and then made an excuse to leave the room, when he came back it was with a Nurse - we now know she is the nurse specialist for Fetal Medicine and that's when we were told that our chances of having a baby with Downs were 1 in 4. And all that was mentioned was Downs, or at least that's what we heard, we went home and I googled and read and tried to remind myself that 1 in 4 meant that the odds were still in our favour (just!).
Daisy had another hospital stay this week, another surgery, another anaesthetic. She had to have her Hickman line (the central line tunnelled into a main vein which rests near her heart) removed and a new one place in a new vein as the old one had been repaired once and was at risk of breaking and also was colonised with bugs which we were just about keeping under control but which could have caused sepsis at any time.
I'm losing count but by my reckoning that's 9 central lines she has had in her life (with the scars of insertions and removals crisscrossing her chest and neck to prove it) and close on 60 anaesthetics for various surgeries and procedure.....more than the majority of the human population will experience in their lifetime.
We are at the end of another half term and have made it through in one piece. I am so grateful for every school holiday we get to spend together because we have lost so much family time over the years. This time of normality has also shown us how different our lives in the real world are as we try to function as a family, this week provided many examples and made me realise that what I am constantly trying to do is spontaneously plan in order to do the normal childhood stuff other families take for granted.
It can't have escaped anyone's attention that there is a lot going on in my home town of London at the moment - all this week we have had the Diamond Jubilee Celebrations then in a few weeks time the Olympics start.
Not many people know this, and I don't really talk about it (not because I don't want to, I guess talking about my family takes up most of my time!) but in what minimal spare time I have in my life I am a leader of a Girl Guide Unit.
Some of you may be new to this blog and not realise how little spare time I actually have, if you read some of the old posts and the All about me link the you will see that my life is very full on and spare time is something of a premium in my world. But being involved in Girl Guiding is something very important to me and so I make time for it.
Actually, thinking about it my experience as a Girl Guide has really shaped a lot of my approach to life although maybe I didn't know it at the time. Like many women my age I was a Brownie (no Rainbows in my day) and once I turned 10 I moved up to Guides. Those who know me well will not be surprised to learn that I embraced everything about Guiding, I did every badge I could, I entered every competition, I read my Guiding Handbook from cover to cover and I achieved the ultimate Guiding accolade - The Queen's Guide Award.
Yes, I have kept my old Guide uniform!
Websites close to my heart
- Shooting Star Chase (Daisy's Hospice)
- Great Ormond Street Hospital Children's Charity
- Torbay Holiday Helper's Network
- Sick Children's Trust
- Daisy's Angels - Facebook Page
- About Costello Syndrome
- Asperger Syndrome
- Caudwell Children
- Together for Short Lives (Children's Hospices in the UK)
- Costello Syndrome Support Group
- Give Kids The World
- PostPals - Putting Smiles on Sick Children's Faces
- Singing Hands (Daisy is their No1 Fan!)
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