Tuesday, 17 December 2013

Coming out to say hello

Last Friday I did something new for us, an extension of this blog (that until 6 months or so ago only my Facebook friends and a few others read) and my Facebook family....I outed us.  As a "special" family, and not just me but all of us.  
I am very grateful to my boys (all three of them) for being so cool about this new phase of openness, attached to my wanting to fundraise and do more for our wonderful charity www.chromosome18eur.org.

We've come a long way and continue on our journey but it's nice to be standing there as a family, albeit with patient and silent partners to my noise and their assurances that boundaries are set and will be respected.

Here is the article that shifted us out of the shadows, for a newspaper I grew up reading and am happy to support them as they are choosing to support us.

LOVING FAMILY: Sara and husband Daniel with sons Louis, left, and Jacob

TELEVISION executive Sara Johnson juggles her busy working life with looking after two children, one of whom suffers from two rare genetic disorders. Manchester-born Sara, who is married to Daniel Jackson, talks about 'the other me'AN article in the Jewish Telegraph last month about my job at TV company Keshet UK hinted a little about what happens when I leave Soho and go home to Finchley.
While I may look like any other parent who treads the line balancing the chaos of work and home, it's not quite as simple in our house.
Alongside parenting our children - one older sibling and his genetically magical little brother - I also help to run a charity that brings support to the few other families out there like us.
Our son Louis has two very rare genetic disorders, chromosomal anomalies, the one I know most about being 18p deletion.
In basic genetics, this means that in every cell in his body he's missing a chunk of genes from Chromosome 18 and has a few extra on another chromosome too.
So the delicate balance of genes that we all have, that dictate how we grow and function and when things should switch on and off, is not quite the same in him.
While he is currently, thankfully, a happy and healthy seven-year-old, the first few years of his life were fraught with medical issues and confusion.
It is hard to look back now and remember exactly how it felt to have this very poorly baby, how confusing everything was before we received his diagnosis at nine months and immediately after when they said they couldn't tell us much about it.
As I sometimes say in a blog I started to write a few years into this new life, when I got his diagnosis and all the confusion it brought, my DNA changed forever too.
Along the way many doctors got it wrong, but a precious few didn't. Like the man at Great Ormond Street who listened and looked and decided to run the tests that led to diagnosis.
And the paediatric registrar in A&E who told me one Boxing Day, as we sat there with unexplained spots, temperature and with him in respiratory distress: "I am always extra careful with a premature baby or one with genetic anomalies - you can't assume what should happen will or what can't happen won't."
They were both right and that is why I am not and won't ever be a typical mum. I spent the first 18 months of my boy's life learning, questioning, noticing, self-diagnosing - making sense of the great big black hole in front of us that I needed desperately to fill.
Through the amazing charity Unique, I was directed, after diagnosis, to The Chromosome 18 Registry and Research Society website. Though I didn't know it at the time, things started to get better.
As I nervously tried reaching out for help, I got by return email heartfelt messages from the few hundred parents around the world who had been there before me.
It was these amazing parents who helped me numbly float through the trauma of having a sick baby that nobody could shed light on, and not be scared of my return to work in a full-time demanding job in television.
These mums were managing, coping with all that a parent to a special child is expected to be able to do.
They showed me that they too had to juggle countless medical issues, from cardiac, breathing, orthopaedic, ENT appointments and more, and led by example how to monitor our son from head to toe, part of the new normal that is still a big part of our lives.
In 2010, my mum Sheila, Louis and I travelled to Glasgow for the first conference of the European charity connected to the clinical Chromosome 18 study in Texas.
I spent the weekend feeling like I belonged to this group of strangers, close to tears throughout at how lucky my boy seemed to be.
Most importantly I came home armed with information about what doctors I needed and how to get the best from the system.
I also found myself thinking of what I could do to help, how I could bring my skills to this small and feisty group of hard-working parents and carers.
So at 2012's conference in Milan, there I was on the committee helping to run things, the excitable English one on the microphone.
There without my family, but at the heart of this amazing weekend of belonging and information.
In July 2014, when we descend on the Novotel in Worsley, Salford, to welcome parents both familiar and new, I will be at the heart of it again, but this time with my family, in my hometown and with a very clear sense of why I fiercely guard this space in my life.
I am lucky enough that my boy can walk, talk, run and learn much like anyone else his age, with his hardy body and his beautiful brain doing their very best.
And we have chosen to see this life of his and ours as full of potential, despite any information, or lack of information, to the contrary.
I am proud to join the tiny group of families around the world who tirelessly fundraise to make our conferences possible.
Proud to help my fellow committee members from Scotland, Italy, Greece, Germany and the UK who find time to plan and ship in medical professionals, translation booths, activities for the kids and all that we need to bring our conference to life.
Like the family in Finchley with whom I have just shared my medical notes; who had a baby who also stopped breathing when she slept; who gratefully told the doctors about our kids and their hidden huge tonsils; who pushed for the sleep study as I told her she could; who sat and watched the recovery from the tonsillectomy; and who have now had a full night's sleep knowing everyone in the house is breathing as they should.
This is the magic of knowledge and connections and this is why I do what I do. So that is my pattern.
Work, parent, blog (sarajinbetween.blogspot.com), tweet (@MrsSarajj), fundraise (www.chromosome18eur.org), help, hope and reach out to find others who must be out there.
Contact Sara via mcohen@jewishtelegraph.com

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