He goes to sleep to the sound of the waves and breathes in fresh sea air every day.
His school days are full of fun, challenge and fulfilment.
He has a simple life, but a good life.
When I think of my boy, it is this picture that I see in my mind. It is real. Not rose-tinted nor sugar-coated.
Somehow, the spectres that ran through my thoughts when he was tiny have faded beyond sight, or thought.
I am not overcome with despondency as I thought I would be, when I think of the fact he cannot walk or talk. I don’t spend a single second of thought entertaining notions that this life is unfair.
Because I take my lead from him. And he lives life big and large. And happy.
The tearing urgency to find a reason for his disabilities has passed. Instead, we share a little knowing laugh between us when the latest round of routine tests comes back marked ‘normal’.
And I have stopped racing to the postbox to see if any of the envelopes look like they might have come from a geneticist’s office, or from one of the academic studies supposedly sequencing his exome.
Five years ago, if I had tried to imagine a life with this extremity of disability in it, but no answer to the question ‘why?’, it would have felt unfathomable.
I had to protect myself with emotional paralysis and a dogged determination to find a reason. Or the weight of the days and years to come was simply too much.
How could we go on, with the toil and frustration, the physical hard work of caring, the hours spent feeding and changing on too little sleep? How could we continue to advocate for him in the face of societal systems that crush rather than care?
How could we do this without knowing the reason ‘why’?
How could we look him in the eye every day without pressing for answers that might tell us if he could be cured of his epilepsy or more able to communicate, be more independent?
Enveloped in an unceasing need to leave no stone unturned.
But every stone we have turned over is blank. Not a thread of a clue. No pattern, no path to explore. I no longer believe that anything will be found. And I find myself unsurprised to be at ease with that.
Simply the passing of time has sufficed.
Because now we can see that our boy is lucky. That for him, disability and living a great life are not mutually exclusive. He has his health, right now, and steps into each day with gusto.
So we have stopped asking ‘why’. There are others who need an answer to that question far more urgently than we.
Instead we take our lead from him.
His life is a happy one. By measure of laughter alone, he takes a lion’s share of joy in daily life. He has a sophisticated appreciation of the ridiculous. He sees life’s funny side. And is cushioned from life’s darker shadows.
His days are gentle, and funny, and fully of affection.
And I’m pretty sure he doesn’t waste a single second asking ‘why him?’
DISCLAIMER: the opinion expressed in this blog post represents our views only and I appreciate that for many families, the need to find an answer to their child’s disabilities or health condition remains critical.
I continue to advocate for their needs and wants within an NHS system that still has much work to do in developing a holistic view of undiagnosed children. Too often our children are seen ‘symptom first’ with little to no joining of the dots and therefore little hope of diagnosis.
This post was written for Undiagnosed Children’s Day 2019, in recognition of SWAN UK, the charity that connects families who have children with Syndromes Without A Name.
The first Undiagnosed Children’s Day took place in 2013. If you want to take a look at some old posts, most years I have managed to write something…
I’m often asked if I knew when I was pregnant that Orange would have disabilities. For many reasons that I have written about previously, I’m glad that I didn’t. His disabilities were completely unexpected.
When I started to realise that life might not be straightforward for Orange, I wanted to know why. Why was it that he couldn’t move his head, spluttered when he fed, slept all the time and did this odd stiff banana pose when we picked him up? Why didn’t he seek out my gaze like his older sister had? Why didn’t he smile? And what about that failed newborn hearing test?
When I googled, the answer I got was cerebral palsy.
I spent the first weeks of Orange’s life terrified that he had cerebral palsy and that no-one else had noticed.
Of course, over time, they did.
“I’m not sure about his muscle tone” said the GP at his 8 week newborn check. “Come back in four weeks, won’t you”, he said.
“Has he woken up yet?” said friends, half jovial at the fact my second baby slept so much he was more than making up for the pinned-eye waking torture of my first.
As the months rolled on, and Orange missed milestone after milestone, we were whipped into a system of genetic testing, brain scans and neurological assessments.
Nobody mentioned cerebral palsy. In fact, no-one mentioned any diagnosis at all.
At the time, I held on with hope that if a diagnosis could not be found, that meant Orange was fine after all. He would catch up with his milestones, it was just the stiff neck from birth causing his delays, that’s all.
Orange was almost one before anybody said to me that he would almost certainly have difficulties for life, that we wouldn’t know what they would be until he got bigger, and that we might never know the reasons why.
Until that point, I had no idea that ‘undiagnosed’ was even a possibility for a severely disabled child. And at the time, I also had no idea that there were others in the same nameless boat.
I had so many questions.
Would he walk? Would he talk? Would he need to go to a special school? What about epilepsy, I’ve read that’s a thing for lots of children with disabilities? How will I know if he’s having seizures? How long will he live?
Nobody could or would answer them.
I tried to answer them myself by reading every medical study and report available on the internet about rare genetic syndromes. But all that could be found there was fear. So I stopped.
I asked geneticists and neurologists about specific tests and syndromes. But all that could be found there was the result ‘normal’. Every medical test that Orange has ever had has recorded the result ‘normal’. So I have stopped that too.
There are no answers, except those that Orange is able to give us himself.
He is six now. He hasn’t walked. He hasn’t talked. He does go to a special school. And yes, he has epilepsy. And boy did we know when that started.
Without answers, for a long time we had hope that Orange would catch up. When he didn’t, we learned to replace that hope with a new one. That life could and would be fulfilling and wonderful anyway.
Orange has shown us that what an academic medical journal may have led us to believe would be a difficult and frightening life is anything but. They don’t tell you about the fun. The laughter. The sweet little habits. The kind hands. The bond you have with a child who needs you on a deeper level than most.
They also don’t tell you about the wonderful people you will meet when you have a child with disabilities. Kind and dedicated teachers who see your child’s personality and achievements and celebrate them with you. The respite carer and passenger assistant on school transport who become like extra grandmas.
The families you will meet, sitting alongside you in the boat without a name.
The friendships I have made with other families who also have undiagnosed children are what gets me through when there is no answer to a difficult question. Because while our children may all be different, often we are all floating about in the same unknown territory.
And there are thousands of us.
Every year, 6,000 children are born with an undiagnosed condition. SWAN UK is the only charity in the UK that provides support for families with an undiagnosed child.
It is through SWAN UK that I have made lifelong friendships. Together we celebrate our children, help each other out with ideas for equipment, home adaptions, how to handle meetings with medical and council staff, share frustrations, support each other through grief and loss, look out for each other’s mental health, laugh together, cry together.
But while our group is now at over 1,000 families, we know there are so many more who may need that support.
Today, it’s Undiagnosed Children’s Day, and we are asking people to help us find other families with undiagnosed children who may need support and friendship along this unexpected, but not unusual, path.
So if you know someone who might be in our shoes, put them in touch with SWAN UK.
When Orange was not quite two, I remember counting in my head the number of doctors, nurses, specialist consultants, therapists and support workers that had been involved in our lives as a result of his difficulties since he was born. I was astounded when I got to 46 and was sure that I wasn’t done counting.
Since then, Team Orange has grown considerably. I stopped counting some years ago but in his five years I can be sure that well over 100 and probably over 200 health and social care professionals have been involved in Orange’s care to date. And that doesn’t include the hundreds of administrators and officials who we speak to day in day out to coordinate appointments, medication reviews and prescriptions, equipment deliveries and repairs, blue badges, disability benefits and education, health and care plans.
That’s an awful lot of people to welcome into your lives. An awful lot of people to open up to, to place your trust in and to rely on to do what’s needed for your child. An awful lot of people who need to work together, in a coordinated fashion, to deliver the right support and care for your child and for you, when you have no idea what you are doing and are learning as you go.
If I have learnt anything in raising a child who has severe disabilities and complex medical issues but with no diagnosis for his condition, it is that I cannot do this alone. It is too big a job.
While I know that I am the world expert on my boy, I am not the world expert on epilepsy, hypotonia, dysphagia, arachnoid cysts or scoliosis. I also need to sleep, work, take care of Orange’s sister, be a wife, sister, daughter and all the other ‘normal life things’ that can get swept aside when you are a parent carer. I can only do ‘normal life things’ if we have help.
As much as there are (many) times when I just want to snuggle down with Orange and hide away from the perpetual merry-go-round of appointments, medical examinations, reports, meetings, phone calls, letters and assessments, I know that I would be doing Orange and all of us a dis-service if I didn’t build a solid team around us of people and professionals who can help. And lead this team to deliver what Orange needs to be safe, happy, well and fulfilled in his life.
When you have a child who has complex needs but no diagnosis there is no well-trodden pathway, no yellow brick road to follow.
No-one will show you the way.
Here are some things I wish I had known, that would have given me confidence, in the early days of us discovering Orange had a syndrome without a name.
You will have to cut your own path, often in a forthright and determined fashion, even when you are at your most worn out and frightened. You will have to do this to access simple things like the right schooling, essential medical support, suitable childcare so you can work, or fit-for-purpose home adaptations for basic daily care like having a bath, or essential tasks like leaving the house. You will do it, because you are strong and because no-one else will.
Lots of people will enter your lives that you didn’t expect. Some invited and some uninvited. Sometimes this is exactly what you need. Sometimes it will drive you nuts. Often at the same time. Roll with it but know that you can press pause if you need to. You are in control.
You will learn to trust people. You will also learn when not to. Your gut instinct is always right. Use it. Lean on the people who you trust and ask for a change of professional in circumstances where you feel there is a lack of trust or understanding. You will know when you need to do this.
You will learn to ask for help (sometimes unceremoniously). This is something I wish I had learned sooner. It took me four and a half years to actually open up to a professional who could help us get the respite care we needed to keep our family on an even keel. It wasn’t pretty. Something akin to hanging a dirty nappy on the door, which one of my favourite SWAN bloggers made famous with her post on Complicated Gorgeousness about the lengths some parents have to go to in search of respite care. It shouldn’t be like this but often it is. Ask for help. Loud and clear. And do it now, don’t wait until you are at crisis point.
You will see the best in humankind and it will make your heart swell. And sometimes you will see the worst and it will make you want to sink into the ground. But most of the time you will just see people, normal people. Some who can answer your questions, some who can’t, and plenty who want to ask fountains of questions of you. Consultants, educational psychologists, social workers, parents of disabled children – these are all groups of people I had preconceived ideas about. And in the most part, I was wrong. We are all just people, for the most part trying to do our best in life and be fulfilled and happy. Remember that always.
You will find people just like you. You are not alone. There are thousands of families with children posing similar quandaries to professionals all over the world, who have complex conditions and no diagnosis, despite years of testing and the best, cleverest minds in genetic research on the job.
These people will hold you together when your child stops breathing and you are in an ambulance racing to hospital with a child in status epilepticus, not knowing if he will pull through.
These people will help you when you have to fill in 40 pages of disability living allowance forms that are not written with complicated, undiagnosed conditions in mind and you have no idea where to begin.
These people will celebrate with you when your child takes a small step that for them is a gigantic leap. Putting a spoon in their mouth for the first time, turning the page of a book, smiling in response to your smile, or squeezing your hand with affection.
These people will laugh with you, cry with you, rant with you, stand and campaign with you at Westminster, share your ups and downs, solve problems with you, hold your hand and drink wine with you.
These people are everybody who makes up the community that is SWAN UK, the small but growing charity that supports families who have children with undiagnosed syndromes.
Through SWAN UK we have found our people. Without them we would be lost.
Friday 29th April is Undiagnosed Children’s Day. On this day, we celebrate the support and love of SWAN UK, raise awareness of undiagnosed genetic conditions, and reach out to other families who may be feeling lost, or alone and unsure where to turn to for help.
Every year, as many as 6,000 children are born who have undiagnosed genetic conditions. They, and their families need your help. SWAN UK cannot keep going and keep delivering the support that it does without funds. This is why Mr K ran the London Marathon last weekend for SWAN UK, raising over £3,000 for the charity. You can still sponsor him here. Thank you.
I would also like to say thank you to all the professionals who are part of Team Orange, who help us negotiate this untrodden path. There are too many to name, but a special thank you goes to Orange’s school team, his school transport escort, his disabled children’s social worker and his school nurse, who provides our respite care. Thank you. We absolutely could not do this without you.
To end, here’s a little video with some great tips for professionals on how you can help families who have an undiagnosed child, and some lovely stories of professionals who are worth their weight in gold, who have gone above and beyond to help families with undiagnosed children.
Watching the London Marathon on the television as a child, I always used to think it was totally amazing that a human being could run 26.2 miles. It seemed like such a super-human feat when I was six. And thirty years on it still does. Which is precisely why it’s Mr K rather than me heading out there tomorrow morning with a six figure number strapped to his chest, an electronic tag on his shoe and vaseline in interesting places.
I often used to wonder why people did it? Why volunteer to put yourself through that? Blisters, chafing, awkward toilet trips, hmm, no thanks. But as I got older I started to understand why people challenge themselves to their limits and sacrifice their own comfort for the good of others.
And then we had Orange.
And then I was grateful to all those tens of thousands of runners who determinedly put one foot in front of the other for mile after mile after mile. And I began to realise that events like the London Marathon are so awe inspiring not just because of the superhuman physical and mental challenge, but because it brings people together.
It is people at our best. Regular, common or garden folk challenging themselves to do something super human, very often for other people who need help.
Every one has their own reason for wanting to run the London Marathon. Because it’s on their bucket list, because they entered the ballot for a laugh and got a shock when the pack dropped on the doorstep announcing ‘You’re IN!’, because they are an athlete, because they want to prove to themselves or others that they can, in memory of a loved one, or because they are raising money for a charity close to their hearts.
The reasons for running are many and varied but for us, for Mr K, it’s because having Orange has opened our eyes. Before we had Orange in our lives there was a whole world we didn’t understand, because we thought it didn’t apply to us. But it does. It applies to anyone and everyone in humanity.
Anyone and everyone could, one day, have a disability. Or a child with a disability. Or a parent who becomes disabled in later life. Anyone and everyone could, one day, become a carer. And while life is easier today for people with disabilities in the UK than it was even five or ten years ago (big up to the DLR for the wheelchair lifts and the Excel Centre for the Changing Places toilet by the way), it can still be a very hard place to be.
In our family, we don’t seem to like to do things the straightforward way either, so of course it should be no surprise to us or anyone else that in having a child with severe and complex disabilities, we also happen to have one who has no diagnosis for his condition. We have absolutely no idea why Orange has the disabilities he has and just about every medical test he has ever had (there have been many) has come back to say he is ‘normal’, whatever that means.
On 29th April 2016 it is Undiagnosed Children’s Day, led by SWAN UK, the small but growing charity that supports families like ours who have an undiagnosed child. It is no exaggeration to say that without SWAN UK we would not be able to cope with all the uncertainties and difficulties that come our way because of having a disabled child who has no diagnosis. With no diagnosis there is no prognosis, no known future, no pathways of care in the NHS to follow and no known programmes of therapy that can help. Everything is an unknown.
But we are not alone. There are thousands of families facing the same challenges. The daily challenges of disability but also the additional load of uncertainty that comes with having no diagnosis (disclaimer: people with some diagnosed but rare conditions face this uncertainty too).
And so, that’s our ‘why’.
Today, Mr K took Orange over to the Excel Centre to get registered for the Marathon. While they were there they took a little video about their experiences and Mr K’s reasons for running London. Have a watch. And perhaps have a think about how you can help.
Everybody can help to normalise disability, because it’s something that any of us can encounter in our lives, and probably will, in some capacity. It’s a small thing perhaps but a smile, instead of a stare, could change the face of someone’s day.
And the bigger thing is that all too often it all comes down to money. Disability is expensive. Support for people with disabilities is expensive. Support for their families and carers is expensive. So we would like to extend a massive and heartfelt thank you to everyone who has sponsored Mr K so far to run the London Marathon to raise money for SWAN UK.
For now, we are all tucked up in bed in our hotel overlooking the river. Significantly more comfortable than last time I sat up in bed looking out at this view while incarcerated in St Thomas’s postnatal ward, and more recently, in actual labour, with said Orange.
Vaseline is on hand, tagged running shoes are by the door, and a last minute dash for nipple band-aids has been made.
So night night from us, and go, go Mr K! See you at the finish line with a cold pint of London Pride.
This Saturday, 13th April, marks the first Undiagnosed Children’s Awareness Day. Before Orange, I had no idea that children with disabilities could be without a diagnosis but there are many, many children just like Orange who have complex needs with no identifiable cause.
SWAN UK, the charity for children with Syndromes Without A Name (SWANs), is launching Undiagnosed Children’s Awareness Day to raise understanding of undiagnosed developmental disorders. This is a vitally important job because there is still widespread misunderstanding among not just the general public but also teachers, medics, therapists and even the families of SWANs about what being undiagnosed means. Often there is a false belief that being undiagnosed means your child will get better or that their problems are not as worthy of help as those with a label.
As a family with a SWAN, historically it’s been hard to know where to fit. With no diagnosis there are no dedicated ‘societies’ or ‘support groups’ and no pathway to guide you through the challenges involved. That’s where SWAN UK comes in. This charity is changing the lives of many SWAN families and we hope that Undiagnosed Children’s Awareness Day will reach out to more families of SWANs and show them there is a place for help, support and genuine lovely friendship. And a fair amount of talk about poo. And wine. Not usually at the same time.
Please spread the word and, if you’d like to, turn your FB page pink and blue in support. Page covers and profile images can be found here on the SWAN UK page