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

Tuesday, 4 June 2013

Working Smiling Resting and Suddenly Crying

Each year I think I'm better now, it doesn't affect me anymore, look how far we've come, look how lucky we are and look how good it is.

Each year as I write birthdays and anniversaries in my diary I put his name, nice and small, on June 4th and pause a little to let the memories subside without actually emerging.

This year I put brackets around his name and when one of the boys saw it they asked why is that there?  I breezily said, oh well I like to remember the day I found out that you/L had his special chromosomes.

Really it's all fine, I'm coping so well, he is miraculous, it's all in hand and life is rebuilding itself beautifully and right now, when I don't think about all the unknowns, and all the silent "special parenting" I do all day every day, it all works.

And yet, just now I was laughing and throwing a ball for my dog, in the sun, in my garden on my day off.  One work call was finished and I'd had a lovely follow up chat with my fantastic colleague.  A diary full of work calls and coffee with friends and supermarket lists and sunshine and sandals and shorts awaits.  But as I threw the ball for the umpteenth time I suddenly and inexplicably started to cry.  The dog paused and lay down looking at me, so I stopped myself but the smile hasn't yet come back.

The tears are stuck somewhere in my ENT system and I probably need to watch something funny and moving on YouTube or Twitter or Facebook to set it all free.

Because no matter how good, how glass is half full, how completely thankful I am for our luck, his magic, my strength and our's not ok.  6 years on it is still absolutely not ok that he and we have had to enter a world of doctors and unknowns.  To have had to find and join research programmes to help with all the gaps in information.  To have to have unbelievable multi-tasking skills in order to do everything I need to do.  To work and parent and be, as I have chosen, an advocate for and member of a charity in order that other people don't have to feel like I felt back then.  Like I still sometimes feel now.

He's my brilliant boy with a brilliant brother and a brilliant Daddy and we will be fine I hope.  But today, this second and minute and hour, it doesn't feel fair.  I hate how it felt to sit in that waiting room back in 2007 and be called in to hear a diagnosis that I didn't understand.  To have had to learn genetics 101 in order to explain it to every doctor we see and all the well meaning people in the circles of our lives who ask. To never really be allowed a day off, or for my brain to atrophy properly into relaxation for more than a very short period of time.

And still, most painfully and ever present in our lives, to have to justify why I am this emotional/thankful/unable to break the cord even though in everyone else's eyes he seems just like all their children.

But then I breathe, sniff back the emotions and come back to today, now.  All the good stuff and all the work I have done to stay strong, that we have done to love and come together, and how determined I am that this will be the making of us all and not the breaking.

Every year it's different and yet every year it is exactly the same as well. So today I accept this marker, this timeline back to then.  This thread of pain and tears and hope and love.

The stuff of life itself