Out of the Box

Out of the Box

Out of the Box – Campaigning for Co-ordinated Care for Children with Undiagnosed Genetic Conditions

As GG’s mother, I have spent the past 5+ years navigating my way around the services provided by local authorities, the Community NHS and the DWP. Firstly, I would like to say how grateful we are for the services provided, we benefit from some good services, an excellent school, a great transport company, the support of therapists and a fab school nurse.

However, accessing this support has been a significant challenge – you have to fight every step of the way to secure the support your child needs. Excluding medical involvement, there are no less than 24 touch points for different services.

For each of the 24 touch points, there is a separate assessment process. Each assessment is time consuming, intensive and requires us to continually ‘prove’ that our child is disabled enough to meet the criteria. For the service providers, it means duplication, repetition and specialist resources focused on assessment rather than provision of the service.

Although in the end we have mostly been successful in securing the support needed, the journey has been tough. As GG remains undiagnosed, this adds extra complexity to the processes. On most forms there is a small box marked ‘please describe medical condition’. This is not straightforward. This is a very long list.

Disability Living Allowance awards are generally only made one year at a time as no diagnosis results in no firm prognosis. Despite little changing year on year, we have to repeat the 42 page form with 10+ appendices. This year it took me more than 6 hours in total In the UK there are 6000 children born each year without a diagnosis, none of whom fit in a box.

My vision for the future is of one combined specialist assessment team. They could provide the focal point for the child and their family, assessing their needs across a range of different services – from School Places to Blue Badges, Respite Care to Housing Adaptations. This would allow the delivery teams to focus on provision of services – which I know from regular inter-actions is what they want to do.

There would be multiple benefits to this approach. In this world, diagnosis or no diagnosis, the teams would focus on the needs of the child, not what we are able to write in a box. Being undiagnosed would no longer be a barrier.

For the family it would also remove the continual assessments and allow for fair and consistent decisions. From a funding perspective, this would eliminate a lot of waste in the current system and allow funds to be spent on delivering services, rather than cumbersome and costly assessment and appeal processes.

I appreciate such change is significant and I am presenting a simplistic view of a cross authority / cross team approach. However, I passionately believe that in combining resources – in this case for assessment purposes – we could achieve better outcomes. In the short term, simple changes could reduce wastage. For example, a child allocated a place at a Special Needs School will have a complex disability so it would appear logical that they will require a Blue Badge, transport to school and access to respite services. I am sure this co-ordinated approach would benefit families and service providers.

I will shortly be launching my campaign ‘Out of the Box’ to improve the co-ordination of care for disabled children and specifically to remove the barriers for those who do not have a diagnosis. We should not be penalised for not fitting in a box. By thinking out of the box, some small changes could have a big impact.


A dream – in more ways than one


I dream most nights and often wake up with my head full of weird and wonderful nocturnal imaginings – friends out of context, me speaking random languages fluently, dreams driven by fear, and just occasionally dreams driven out of hope.

Many of my dreams are repetitive, one common dream I have experienced since childhood, involving a pigeon, a burglar alarm and an exploding house…. I can only imagine the fun an interpreter of dreams would have with that one.

Since Christmas I have started having another repetitive dream – 4 times so far and it is a rare dream built on hope. Quite simply I dream that GG is a fully functioning adult. It is a dream in more ways than one.

As with most parents, I imagined dreaming of my children’s graduation or wedding, adventures travelling the world or becoming a parent. Never did I imagine that dreaming of my child able to do the most basic things would be so far from reality.

In my dream GG is running, without falling. GG is riding a bike, on her own. GG is making a cup of tea, unaided. GG is holding a conversation and is understood. My GG as a neuro-typical adult, so simple and yet so impossible.

The sense of pleasure is indescribable, my heart bursts with joy. As often occurs with my dreams, the first few seconds after waking I continue to experience the joy, immersing myself in that fabulous image. Unlike most dreams however I come crashing down to earth with a bang. The beautiful image of the adult GG firmly engraved on my mind in the cruel light of day.

I don’t think I can ever fully accept GG’s situation, I know I will never stop hoping. The ‘if only’s’ persist and the dream is sticking its’ fingers up at the limited acceptance that I have managed to achieve.

Then, I look at my amazing GG as she wakes, the big grin as I go to lift her from her slumber, the excitement at a new day – oblivious to the 6 sleep seizures she had during the night.

I focus on the positives of my beautiful child who will never know the worries of a typical grown up. The child who I am certain will forever retain the fabulous belly laugh and infectious giggle. I turn my focus to my dream in the real world – that GG remains as happy as she is today despite the challenges she faces.

That is my true dream, my life’s mission – mission ‘Happy GG’ accepted with pleasure!

mission accepted


The motto of a special needs parent.

No limit

I cannot recall the number of stories of disabled children achieving a milestone that the parents had been told would never happen. The special needs community loves these stories of hope, of achievement – of proving the specialists wrong. It is what we all dream of – especially in the undiagnosed community where the prognosis is often unknown.

I recently congratulated a very special mum whose son had learnt to crawl, defying all the odds – ‘well done you’, I said! Her very modest response was that her son had done the hard work but this sparked a little eureka moment for me – by not setting limits, by providing opportunity, by giving encouragement, any child will flourish.

As we all know, years of the ridiculous idea that boys are better at maths has created a void of talent in the science, technology and engineering worlds – so few women have really made into this male bastion. Even now, in GG’s sisters school, the teacher has the girls reciting the mantra ‘ I am brilliant at maths’ over and over, to undo the societal blockers to the girls inher class.

Removing the perception blockers are even more important in the case with a disabled child. You are told your child will probably not walk, so why bother with the physio. You are told your child will not talk, so you talk for them. You are told your child has a low level of understanding, so you do not engage them in conversation. The battles are tough enough in getting through the day without adding extra pressure.

I recall my extreme reaction to the idea that we might want to consider respite for GG so that our family can do ‘normal’ things. The offers from family to have GG to stay, so that we can have a weekend away with the others. It took me a long time to accept that the break is good, for us and for GG but I remain determined that GG will have a full family life. She will not be excluded, to the best of our ability she will share the same opportunities.

It took me 3 attempts to find a swimming lesson that worked for GG. I need to be in the water with her, which at age 5 is unusual. One teacher (the swimming SEN lead) actually said ‘I don’t know what I can teach your child’ – this fired my determination. The sessions she now attends are small groups – only 4 children, all younger but GG is picked to demonstrate the things she is good at – mostly putting her face underwater! – and the things she cannot yet do pose no barrier. GG can swim, it is inelegant and inconsistent, but the persistence paid off and she loves it.

On holiday, the kids clubs seem out of reach, we certainly cannot leave GG unattended so we go too. I have yet to find a kids club that does not welcome her attendance. Some nervous child carers not sure what to expect but who soon relax when they see how much fun she can be.

A far more mundane example was the aspiration some years ago to enable GG to make a choice – every day for several years, GG has been given a choice of cup colour with breakfast. It was months and months of this daily routine that eventually resulted in a point to the one she wanted, sometimes with limited engagement, other times with determination. It was the arrival of the Peppa Pig vs. the Mr Tumble cups that tipped the balance. Suddenly she looked forward to making the choice, alternating between the 2 and that glorious, magnificent day when ‘(P)eppa’ was verbalised and a few months later ‘(T)bumble’ followed. The simple things.

When GG was really small it was unclear if she would walk. We found an intensive therapy programme that she joined before her 2nd birthday that she still attends to this day. It is hard for her, exhausting despite the best efforts of the physios to make it fun. There are tears, tantrums and frequent urges to step in and say stop. It is hard but we know the benefits. GG can walk, she is trying to run (more of a charge as she leans forward in an attempt to accelerate!), she is developing better balance. One day, we are certain she will learn to jump.

Quite simply, we never say never.

An Ode to Mothers Day

Image result for mothers day image

So being a mum to Gorgeous Grace is a privilege and a huge pleasure,
The cutest grin, infectious giggle, GG really is a treasure,
The joy on her face when we race, or play horsey on the floor,
The cuddles I sneak,  I love to watch you sleep, you are so pure

Of course I find it hard sometimes and struggle with the guilt,
‘oh no’ they say, ‘it wasn’t you – it’s definitely not your fault’,
But I’m the one who made you and grew you in my tummy,
The one who gave birth, fed you – it has to be me – I’m your Mummy

People sometimes say ‘You wouldn’t change her – not for all the world’,
But that’s not true, I absolutely would make things better if I could,
Don’t get me wrong, life without you I could never ever contemplate,
With your siblings, my gorgeous girl, you make my world complete

You show me clearly everyday what is important in this world,
Time with you, to enjoy ourselves, together memories we build,
But the therapies and appointments they do get in the way,
We have to try, keep pressing on, and hope it pays back one day

The days you cry when I brush your hair or during physio,
it breaks my heart, I crumple inside, I wish it wasn’t so,
But then we put you in the bath or take you to soft play,
We feed you the cheese you love and suddenly everything is okay

I love the days when you’re on form and we spend time as a family,
The days you squeal ‘bumble’ when I put Mr ‘Tumble’ on the TV,
The days you snuggle up to me and we read a book on the sofa,
The days we play with baby and have fun and games together

Just keeping track of all you need is a mission in itself,
The paperwork and chasing up – I hope it all will help,
But ultimately nothing matters more than your happiness,
and that my darling girl will remain my personal quest.

Hammering at the door of a Rare Disease


Having an undiagnosed genetic condition sucks. Having a rare disease also sucks. So why are we pursuing that elusive diagnosis that will ultimately be a rare disease?

We are not daft enough to think that after more than 5 years of searching, (including 2.5 years on a ground breaking international genetics research programme), that a diagnosis will provide GG with a known and understood diagnosis. However we continue to seek the rare disease – or even genetic mutation that does not yet link to a known disease. There are many reasons why.

#1 – There is something to write / type into that small box usually called ‘medical condition’. I have tried both ‘unknown’ and ‘undiagnosed genetic condition’, neither of which satisfy the faceless individual assessing GG’s case. However there is not room for ‘3 types of epilepsy, low muscle tone, hypermobility, sever learning disability, squints, misaligned bones, uneven leg length’…..the list goes on.

#2 – We will have an answer to ‘what’s wrong’ / ‘why’ – having an explanation is helpful in social interactions – that would be a start. However way more impactful for us is that a diagnosis will explain why. It is hoped that the ‘why’, will finally remove the never ending soul searching of what did I do wrong? Did I cause this by eating that piece of blue cheese before I knew I was pregnant? Ridiculous? Maybe, but very real.

#3 – We have a chance of understanding if this is a hereditary condition. Not for us I hasten to add, after the arrival of GG’s little brother, we closed that chapter, agreeing that we had rolled the dice one last time and been lucky. However GG has 2 siblings who will no doubt in the future want to consider having a family. Knowing if they carry a hereditary condition will be important.

# 4 – Hope. Pure and simple. A rare disease diagnosis would give us hope that in GG’s lifetime there maybe treatment, even a cure. I know I am getting carried away now, but we cling onto that hope.

Hats off to all those battling with rare diseases, we do not underestimate the challenges you face in finding and accessing the support you need. However we do not wish to remain in the undiagnosed camp and very much hope that one day we will join your ranks. We know we will be welcomed with open arms.

The ‘Almost’ Diagnosis


I have to be honest it was a shock – a routine genetics appointment that transformed into the meeting we thought we had hoped for but that actually led to the saga of the ‘almost’ diagnosis.

You can picture the scene, completely unprepared for what could have been momentous news. The Consultant’s room includes an accessible sink, too tempting for our water obsessed GG who persistently battled her way past us to turn on the taps. GG’s younger brother climbing on the bed like 2 year olds do. We were not exactly set up for what came next.

For those who share our Swan world, the DDD study will be familiar territory. For those who do not inhabitate our World, I am referring to an international genetics research programme that is seeking answers to the challenges of thousands of undiagnosed children. GG has been on the programme for 2.5 years, bloods and saliva samples provided all that time ago followed by silence. We awaited news, along with thousands of others, that could be life transforming for our beautiful girl.

I will never forget those words ‘ The DDD study has returned a result’. My heart skipped a beat. Was this the moment we had waited for? Dreamt of? Were answers about to come? Were there others with the same condition? Could this result help GG in the long term? The questions raced around my head. Alas, the hopes were dashed with the very next sentence.

‘BUT….we do not believe this result is significant for GG’. Confusion does not come close to describing how I felt in that moment. It seemed we had come so close and yet were still so far.

Making the most of our momentary distraction, GGs determination paid off, she made it to the taps and water sprayed across the room – her little brother now dripping wet and screaming. In a daze, we dried them off, offered bribery in the form of a packet of crisps and turned our attention to the matter in hand.

The DDD study had identified a mutation on the gene NOTCH2, one of the thousands of genes that make us human. This is typically associated with Alagille Syndrome. Neither I nor GG’s Dad have the same mutation and therefore this finding was potentially significant. However, having reviewed GG’s medical history the dots did not join up. No known heart problems, butterfly spine has never been mentioned, kidney problems had already been ruled out whereas eye issues were already on the list. In no time at all, we were bid farewell with promises of referrals to cardiology, spinal x-rays and Orthoptics, adding a host of appointment to the ever growing list.

The next few hours felt surreal. Despite the crisps, the munchkins were hungry so we headed to the hospital canteen and fed them chips (I promise you we are normally healthy eaters). We had so much to say but sat in near silence, unable to take it in. The emotional reactions came later, what if it is Alagille syndrome? What if there are heart issues? The scared tears. The disappointed tears. The ‘what do we do now’ tears. Then the pulling ourselves together and cracking on as always.

With a fair few comments of ‘Never mind – GG is still GG’ from family and friends, I turned to the Swan group for advice and empathy. As always, we were not disappointed and were surprised at the number of other Swans who have been ‘almost’ diagnosed.

We are now 3 months on from that not so momentous appointment. The spinal x ray has been done and we await the results. Cardiology is booked for May, Orthoptics for July – the wait seems never ending but medically there is no urgency. Limited consideration is given to the impact of not knowing, the stress of the ‘what ifs’ and the overwhelming urge to google which I have resisted thus far.

So yes, GG is still our fabulous amazing GG, continuing to make us smile every day with her determination and belly laughs. And we wait, desperately hoping to rule out heart and spinal issues whilst at the same time hoping beyond hope, that the elusive answer we dreamt of will come one day.