Category: 100,000 genome

Happy Birthday to You – My Swan Song

It is fittingly ironic that yesterday, we received further communication from genetics regarding the 100,000 genome project (you can learn more about this: https://www.genomicsengland.co.uk/about-genomics-england/the-100000-genomes-project/) on the eve of Undiagnosed Children’s Day. Whilst the letter outlined what we already broadly knew (nothing has so far been found to explain the complexities related to Minx and potentially… Continue reading Happy Birthday to You – My Swan Song

Same but different….rare as Unicorn ðŸ’©???

This year 28th February 2018 is the worldwide celebration of Rare Disease Day.  The very first ever Rare Disease Day was held in 2008 –  a leap year so the perfect occasion for the initial 18 countries that signed up to celebrate. Every year since, countries across the world have united to raise awareness of… Continue reading Same but different….rare as Unicorn ðŸ’©???

“There are known knowns”…

” There are known knowns; there are things we know we know. We also know there are known unknowns; that is to say we know there are some things we do not know. But there are also unknown unknowns – the ones we don’t know we don’t know. ”  Credit: Secretary of Defence Feb 2002… Continue reading “There are known knowns”…

Shoulda, woulda, coulda…..

I’m not often given to introspection or too much dwelling on the past; after all, it rarely helps in changing anything going forward and dredges up old emotions and difficulties that you can’t fix. Indeed, as my Father is so fond of saying “If your Aunty had bo**ocks, she would be your Uncle!  (so couth,… Continue reading Shoulda, woulda, coulda…..

The Good, The Bad….& the ugly….

I threw my toys out the pram a few weeks ago….figueratively you understand although I must admit I did feel like throwing things literally as well…..sadly, I am (allegedly) a grown up and this sort of behaviour is frowned upon…unless you are at a Greek wedding, or so I’m told. What was the reason for… Continue reading The Good, The Bad….& the ugly….