Friday, 28 June 2013


Back again but this time, I am going to try not to break my heart, which I did a little bit of with the plaintive cry of my last post.

This time I am going to quietly, slightly tiredly, share a little more about what's in my head and leave the heart bit intact.

Sometimes it is wonderful to have the ability to look ahead, see some of the things that might be hovering there, and make some plans both practically and emotionally for if and when that happens.

Often that process is contradictory, by being both empowering and awful, satisfying and wretched, surprisingly easy and terribly hard.

And always for me, there is a process to follow.  A clear eyed unemotional intellectualised search, a very calm ordered look at what what I have to do and need to know.  Lately after all that grown up stuff there is also a dribbling slide down to a sad place where I worry a little too much and forget to enjoy today and now.

As you might know, I am a big loud happy advocate for the charities Genetic Disorders UK/Jeans For Genes and most importantly the Chromosome 18 Registry and Research Society.

I split my time working in my new, challenging and very busy job, being media representative for Ch18 and all the other things that being a mum and a woman and a wife and a sister a daughter and a friend bring with them.

I have noticed a sea change with my relationship with Ch18 recently, because when I first decided to join the management committee it was to help everyone who came after us, help them not have to feel as lonely etc as I felt.  I am an educated stubborn hard working woman who works in media and I reckoned those skills should be put to helping them.

In recent months the amazing remarkable genetic research and clinical study run by Drs Jannine Cody and Dan Hale and team, has turned its eye on the little "p" arm of Chromosome 18 and the hard to understand but very important gap that exists on it in my boy.

And for the first time I have realised that all this time I spend thinking and planning and fundraising is actually going to have an effect on us.  Because I am now able, in tandem with the team, to look ahead to some difficult conditions that may find their way into our lives in just a few short years. Or may not.  And there's the rub.

Off I go with studies and forms, information and fears, to my neurologists and optician and school and physio and what I have to say is hard but necessary and being necessary even harder than I perhaps realise.

"Hello, can you please help me look at our boy, fill in some checklists and listen to why we are asking you to do these, and then can you repeat them again year after year, and can you help me to slowly wipe the steam off my crystal ball as we see what if anything we might have to add into our lives".

I make calls and print letters with actual facts and figures and names and try to get systems in place. I know that Great Ormond Street and my paediatricians at Barnet will respond because I finally know how to help them to.  I also know that school is already listening and while that is amazing, it is also a new and hard mode to shift into.

What I think I can't find in the system is this quiet little request I have... if something starts to look like it is appearing in the mist, can you please help me cope?  And can you please insist that I don't spend my down moments looking in that crystal ball too much and instead enjoy all the today and good and loveliness that I have?

Friends, readers, quiet page viewers and fb traffic guests and family, that is where you will come in. To hear me and hug me and entertain me and be my friend.  But also to come along on my journey as I realise now, more than ever, that any money I raise has to be big enough to help not only the families in Europe, but also the lab in Texas.  This clinical study that with the work they do from the information we give them, are helping feed into other scientists' work and other programmes to help with diseases in the common population.

In February I am going to do a very big fundraiser and what I do and ask of you all will reflect how everything has changed in how I see my boy, our family and my role for good beyond.

Watch this space and thanks for listening


  1. I hearby promise to support you in all the ways mentioned above and in all the ways your heart wants but has not had the words to voice.

    We will stand together with our boy slightly in front. Guiding, holding, loving and being amazed.

    1. xxx to my big sister, sending me a missive on my birthday just when I needed it. Love you Maccy