So, I suppose it is only fitting that when Miss Z was born, she was missing her label.

When she was first born, we assumed that her missing label read “healthy neurotypical infant girl”.

OK, that’s a lie. When Miss Z was born, we knew nothing about special needs, so wouldn’t have had a clue what “neurotypical” meant.

We would have just called her “normal”.

But it turns out that whatever was written on that missing label, that wasn’t it.

At the age of 6 months, she was given a new label: “epileptic”.

That was swiftly followed by one of my least favourite labels: “global developmental delay”.

But neither of those quite got to the heart of what should be on her label.

They were like the washing instructions, not the front-of-the-box, big letters, this-is-what-it-is label.

A pediatrician briefly put a “cerebral palsy” label on her, but it didn’t stick.

Occasionally a medical professional tries to stick it back on, but that label lost its adhesive long ago.

At around a year old, she was given a new label: Rett Syndrome. I did my research and was sure this one was it.

She ticked nearly all the boxes – her paediatrician and geneticist were sure that was her missing label. Except the genetic tests said it wasn’t. So, that label was peeled off.

In the meantime we were furiously accumulating symptom labels: cortical visual impairment, apraxia, microcephaly, hypotonia, dysphagia, complex motor stereotypy, scoliosis and osteopenia – to name but a few.

We generally had no clue, at least initially, what these labels meant.

It was like the list of ingredients on the label of instant noodles – lots of long, complicated words that have no meaning to you, but you know instinctively that they’re not good.

We kept searching for Miss Z’s front-of-the-box label. T

he geneticist gave her a “CDKL5” label and it stuck for about six months until the genetic test came back, telling us that it wasn’t our missing label either.

Another label was peeled off and thrown away. After over a year of fruitless searching, our paediatrician suggested that we make our own label: “atypical Rett Syndrome”.

He reasoned that Miss Z fit a clinical diagnosis of Rett Syndrome and the “atypical” could cover the fact that she didn’t actually test positive for it.

So, we printed our own label and it has been stuck on her ever since.

The only problem is that we don’t really know if our label is right. E

very medical professional has his or her own opinion, ranging from “she is absolutely a Rett girl” to “she isn’t remotely Rett-like”.

Miss Z is like a tin can with no label that you find at the back of the cupboard – you think it is probably green beans, but you just don’t know for sure.

And we may never have a clear answer.

Being undiagnosed – unlabelled – is hard, although it is harder for me than for Miss Z.

I worry constantly about her future, as we have no idea what her prognosis will be.

I wonder if there is a treatment or therapy out there for her specific condition that might help – and that we aren’t getting because Miss Z is undiagnosed.

I feel like we are guilty of not doing enough to find out her diagnosis.

Surely there is another test?

A research study?

Something?

Whereas, Miss Z just carries on being her own unique, hilariously grumpy person who loves listening to Beyonce in the bath and being held while she sleeps, fakes exhaustion whenever a therapist enters the room, and can give the deadliest dirty looks on the planet.

No label is ever going to capture even a fraction of whom she is.

But that doesn’t mean we won’t stop hoping that someday the right label finally sticks.

When your child is born with what turns out to be an undiagnosed condition it’s a lonely, scary, fill-it-up-with-your-own-fears place to be.

At the beginning you google and google and google.

You scare yourself witless with the conditions, syndromes it might be. G and I would do this secretly, not wanting to scare the other and it would only be days later that we might discuss what we’d found.

Gently, tentatively, willing the other to disagree.

To take away that gut-wrenching, stomach-falling panic.

You find yourself doing deals with life. Could it please please not be this.

And if it’s not that it needs not to be the other as well.

Tests after tests after tests are done to knock these potential life paths down one by one.

For every test, there is a period of stress laden waiting. Followed by relief till the next one.

Till you come to…. Nothing. And you are released into a world of disbelief.

What do you mean they can’t tell me what’s wrong?

Someone can always tell me what’s wrong.

This is how life is. But not this time.

We all know, we all see, that Alex is not developing as you would typically expect, but nothing in his scans, his genetic make up, his very physical being can tell us what. He is a mystery.

He is #undiagnosed.

Trying to explain this to people can be very very hard.

The answer to ‘What’s wrong with him?’ can be very long-winded… it can be quite tiring… it can throw up thoughts I don’t want to think of and people… well, they hate an information vacuum.

Please don’t try to diagnose him – to fix him – for me.

Please think, just for a second, how this makes me feel. It puts me on the defensive immediately.

We have all the professionals we need. We have asked all the people who have made a career out of this.

They don’t know.

You, after having just met me cannot know. Instead, ask me what his problems are, what his limitations are… ask me what makes him laugh.

See my little boy.

The future scares me. Right now he is the healthiest of boys.

We’ve steered clear of A&E for over a year now and that bout of chicken pox?

He rode it out no bother. There is growing immunity.

But no diagnosis… who knows where he is headed?

In my darkest hours I wonder if I will outlive him.

And I can’t tell you if that is better or worse than his outliving me.

So we remember to enjoy moments. Just in case. We joke that our children are at the forefront of medical discovery.

That they are re-writing the rule books. They are.

Alex is on the DDD study (which delves further into their DNA than ever before) and has been for two and a half years.

No diagnosis. And those that have received one are maybe one of a handful in the world.

But they are a beginning. They will help the parents of the children who come behind us.

SWAN UK banded us together with all the other parents on our path.

Gathered us in to show us we weren’t alone. That it wasn’t just us.

It’s quite hard to explain what SWAN does. They don’t give us money.

They aren’t trying to find a cure. But they educate, help join the dots.

They work with medical professionals to help them learn and understand what it is like to have an undiagnosed child. How to work with parents. How to talk to parents.

SWAN UK send balloons to the children when they are in hospital.

To show them they aren’t alone. And thanks to social media they give the parents a forum to chat, to compare… to laugh at the some time ridiculousness of it all.

To celebrate those inchstones.

To make good friends.

That togetherness makes us all stronger, makes us all more confident, makes us happier.

My son is #undiagnosed 6000 children are born every year in the uk #undiagnosed So many of us wish we had found SWAN sooner.

Our family found them by chance conversation. And we are a brighter, cheerier, more banded together family unit because of it.

Undiagnosed Awareness day helps us wave to more parents, much sooner. Please spread the word.

You can find out more about SWAN UK here: http://undiagnosed.org.uk/

Your child is referred to specialist after specialist who perform every diagnostic test known to mankind.

You have high hopes that at least one of those specialists will finally give you some answers only to have your hopes dashed to pieces when they too come up with no definite diagnosis.

Your child has now joined the ranks of those who have an undiagnosed disorder, disability, or illness.

Many people living with medically unexplained disorders spend a majority of their time searching for answers and help.

Unlike the diagnosed, who have access to the proper medical protocol and therapies specific to their disabilities or diseases, the undiagnosed have no tried and true treatments to offer them hope of ever improving their conditions.

Parents with undiagnosed children face tremendous worries and burdens.

Their loved one may be suffering but unable to access proper healthcare because even if there does happen to be a treatment or therapy that might be of some help, without a specific diagnosis many insurance companies will not pay for such treatments or therapies.

Parents are forced to watch their child’s condition deteriorate and worry that they may not get a diagnosis and treatment in time.

Another issue that some families with an undiagnosed loved one face is that many times the ill or disabled individual is accused of faking their symptoms and out of frustration diagnosed with a mental illness, thus dashing all hopes of ever being properly diagnosed or receiving the proper treatment.

The undiagnosed are at another disadvantage also.

Unlike well-known disabilities or diseases with several foundations or charitable organizations raising awareness and funds and looking out for their welfare, the undiagnosed have only a precious few looking out for their wellbeing.

The time has come for the world to be made more aware of the devastating plight of individuals living with undiagnosed diseases, disorders, and disabilities.

Undiagnosed: Medical Refugees is a documentary telling the story of millions of people whose lives have been devastated by unknown and undiagnosed illnesses.

Swan USA: Syndromes Without a Name Swan UK: Syndromes Without a Name are organizations devoted to supporting and providing information and advice to families of children living with a syndrome without a name.

In Need Of a Diagnosis Inc. advocates for increased accuracy and timeliness of diagnoses and is a resource center for those who suffer with illnesses that have eluded diagnosis.

Please visit Undiagnosed for a list of organizations and foundations dedicated to assisting and supporting the undiagnosed.

Doctors were sympathetic, but most took little interest. Fortunately, our GP and Miss Z’s neurologist did: an adjustment to her seizure medication and a week at a sleep clinic solved the problem.

For the first time in over a year (for me) and in her life (for Z), we were getting a good night’s sleep.

We enjoyed two and a half years of good sleep before Miss Z began to experience sleep problems again late last year, caused mainly by poor health.

Sliding back into the pit of sleep deprivation has reminded me of several things I had almost forgotten:

Sleep is essential for quality of life – hers and mine.  

Everyone claims to be tired these days. It almost seems like a status thing.

But research has repeatedly shown the importance of a good night’s sleep.

Sleep is necessary for a child’s healthy growth and development.

According to the US National Heart, Lung and Blood Institute, deep sleep triggers the release of a hormone that promotes normal growth and also boosts muscle mass and helps repair cells and tissue.

It is also critical for performance.

A Harvard study found that people who slept after learning a task performed better when tested.

Other studies have found that sleep deprivation can degrade reaction time, communication, attention and mood by 20-50%.

Miss Z has Everest-sized developmental mountains to climb.

She needs every advantage to help her on this process. And that includes being well rested.

And as her parent, I am climbing that mountain alongside her. But sleep deficiency can change brain activity, making it more difficult to make decisions, solve problems, control emotions and cope with change.

Basically, it disrupts the skills that are most critical for me in order to successfully advocate for Miss Z.

Sleep deprivation is also linked to depression and other mental health issues.

This is important because many parents of children with special needs struggle with depression, anxiety and other mental health issues.

With all the research showing how important sleep is for our kids – and for us – why is it not a greater priority?

After all, it effects our very development, wellbeing and happiness.

A lot – if not most – children with special needs suffer from sleep problems.

According to a study done by the UK charity Scope, children with a disability are more than twice as likely to have problems with sleep as other children.

The causes behind these sleep problems are as varied as the children themselves.

Sleep issues are commonly associated with some disabilities, other times the problems may be behavioral.

Whatever the underlying cause, exhaustion is the one thing that unites most parents of children with special needs.

If you are a sleep-deprived parent of a child with special needs, there is very little help out there.

Most advice for dealing with sleep problems in children with special needs seems to be along the same lines as the advice given by the baby sleep ‘experts’: establish a bedtime routine, put the child to bed tired but not asleep, make the bedroom a calm environment, etc.

Frankly, while they’re all good suggestions, none even begin to address why Miss Z isn’t sleeping at night.

If the help and advice out there for Miss Z is scarce, it is nearly non-existent for parents suffering sleep deprivation.

Yes, my husband and I take turns and divide the night between us, but that doesn’t address the problem when Miss Z wakes 5-10 times a night and can cry inconsolably for up to an hour in the middle of the night.

We have access to respite services, but not overnight respite.

Miss Z’s doctors are sympathetic, but offer little in the way of solutions.

There seems to be a professional expectation that she will always be a poor sleeper, and as a result, we will always be exhausted parents – that’s just the way it is.

Miss Z’s sleep problems feel like a burden that we are expected to bear on our own.

This needs to change.

Medical professionals need to see sleep as an important issue – both for our children’s development and also for the quality of life for the whole family.

As parents, we need to stop viewing our exhaustion as some sort of symbol of dedication to our children or how tough we are.

Instead, we need to push harder for it to be taken seriously; for those supporting our families to understand that sleep problems affect our very quality of life.

I accept that not every sleep problem has an easy answer or a quick fix, and in some cases there may not be a ‘fix’ at all.

However, dismissing sleep problems and leaving children and parents to suffer them does no one any good.

Danny had a feeding tube placed at fifteen months, and growing and gaining weight have been a great concern his entire life.

We have tracked every calorie and ounce of water.

We have worked for each notch on the growth chart, and we are so proud of how far he has come.

Recently however, there is a nagging reticence I experience when he logs yet another inch or pound.

Danny is getting big.

He is tall and lanky and adorable.

He is getting big.

For many parents I assume, this resistance to aging is attached to a desire to forever cradle your baby and a sense of nostalgia for when they were tiny.

For me, I think it goes much deeper and is more complex than that.

As Danny grows, the divide between him and his peers widens.

Our path looks much different than theirs.

Plus, he’s heavy.

My back is starting to ache.

It’s getting more difficult to just carry him through a crowded restaurant.

I have to look for accessible places to change, special grocery carts, and the drool on his chin seems to be a bit more obvious to everyone.

Danny is different.

When Danny was first diagnosed, there was a certain ability to pass off as a typical family.

Sure, his head drooped a bit and I carried him absolutely everywhere, but to the random passerby, we did not stand out.

I could fiercely protect him from the world.

We didn’t receive any extra attention (except for his gorgeous red hair), we didn’t feel the need to explain, and we could shop or dine in anonymity.

People remember us now.

And really, they are so kind.

We have been gloriously lucky in that we have a wonderful community of people who reach out to us, who adore our son, and who offer to help at every turn.

It’s just sometimes I’d really rather just not need it.

Sometimes I just really wish the attention Danny got was for being a typical toddler having a typical meltdown in the grocery store aisle.

That is not why people notice Danny.

People notice him because of his wheelchair.

People notice him because he can’t quite look them in the eyes when he smiles.

People notice him because he doesn’t talk.

Most days this is really and truly okay.

It doesn’t faze him or me and we are so grateful to the many people we see and talk to daily.

Once they stop and talk with Danny, they are amazed by his spirit and his sense of humor.

He is acutely aware of everything that is done and said around him, and we mostly chuckle through the inconveniences in our world.

I just worry that as he gets bigger, these inconveniences will turn into barriers.

I meticulously mentally record every restaurant’s restroom, every entry way with steps, and every narrow hall.

I worry that as he grows more dependent on his chair, his world will shrink.

As his need for space to change grows, his opportunities diminish.

And then I become a bit more resolute.

I will not allow it.

I will roll the chair over my back before it holds him back.

I will solicit our community stores and facilities for a space to change.

I will not let his chair limit his ability to access the world.

Where there is a will, there is a way, and I will ensure we can do it all.

There will just always be a part of me, wishing he was little.

And Sam loves each and every one of them; he adores watching the colourful fish in their tank, stroking the cats and laughing at Sid’s comical strutting around the garden!

So, when a friend mentioned about taking their child who has severe CP horse riding and what a difference it made to her, my ears pricked up.

Although not very good at it, I used to ride in the past and still enjoy the company of horses so I started to research this potential activity for Sam.

I rapidly learnt that there is a form of physiotherapy done on horseback called hippotherapy, and that it can be very good indeed for kiddos with disabilities such as Sams. The main issue was availability.

We live in Stoke on Trent and while there are plenty of stables offering riding for the disabled, none offered the hippotherapy we were after.

After contacting many stables and being given contacts for OTHER stables I eventually spoke to a wonderful lady based in Shrewsbury.

Lyn was a physiotherapist who had specialised training in hippotherapy and was happy to give Sam a try out session, as long as we were happy to bring him down to Shropshire.

Frankly, I’d go to Mars and back if it would help my child… Shrewsbury not a problem!

On arrival the first thing we noticed was that we did not stick out as being the Family with the Disabled Child.

There were children with all manner of issues here, but all had one thing in common.

The moment they sat on one of the horses, they relaxed. They sat up tall, smiles across their faces.

Horses are remarkable creatures; big and heavy, they move with a quiet grace and would stop if they felt that the child wasn’t secure.

Each child was supported by two helpers, one either side of the horse who was gently led around the paddock by a third assistant.

Seeing the profound effect the animals had on these children made us all the more determined that we wanted Sam to try this out, so at the end of the session he was gently lifted on to a particularly gentle pony named Teddy.

Teddy stood patiently while the staff made sure Sam was lying comfortably across the his back – due to Sams low tone he is unable to sit unsupported, so lying on the horse allowed him to experience the therapy and relax.

Apparently when horses walk the movement is very similar to that of a human walking…

The child has to constantly alter their position subtly to maintain balance, the more experienced children work through various therapy programs involving them stretching their muscles and balancing on the horse without holding on; as this was Sams first time on a horse he was allowed to just chill out!

At the end of the ride, as Lyn lifted Sam off Teddy, the pony turned his head and gently nuzzelled our little boy as if to say hello properly.

Sam had a huge grin on his face, and we were hooked.

Sam has now been attending fortnightly hippotherapy sessions for over a year.

His core strength has improved significantly, as has his sit balance. Due to the unpredictable nature of his seizures and the frequency with which he experiences them he usually doesn’t ride the real ponies, but uses the stables fabulous mechanical horse.

This incredible piece of kit mimics the movement of a horse perfectly, allowing Sam to access the benefits of the therapy in a safe manner.

During his sessions his therapist will have him sitting or lying across the horse and uses various techniques to encourage him to use his own muscles.

A few weeks ago Sam was able to try out his new found strength and skills riding Teddy, the lovely pony who’d been so gentle with him on our first visit.

Let us just say there wasn’t a dry eye in the place as our little boy sat up straight and tall (granted, Lyn had a hand on his back but he did it!).

The difference in his strength was evident for all to see, as he watched Lyn tell him what she wanted him to do.

Proud mummy moment? You betcha.

Its hard work for the children, Sam usually falls asleep during the hours drive home, but the benefits to his overall development and well being have been fantastic.

Would we recommend hippotherapy? Absolutely and without a second’s hesitation.

Sam was granted physiotherapy on the NHS for all of 12 months; once a fortnight. The reality being, that if PT was going to strengthen his muscles and keep his joints supple and mobile, this would be something he needed *daily*.

Cue the parents struggling to squeeze in one more round of therapy before school/tea/bedtime.

Why can’t therapy be more FUN??

Those who know me know that I am passionate about one particular therapy.

Snowdrop is different to other therapies; it is based strongly in scientific research, although at time the methods seem a bit, well, bonkers!

But first, some history… When Sam was around 14 months old he was virtually catatonic.

The seizures plus the powerful drugs used to try and control them were taking their toll and our boy could barely lift his head off the floor let alone don anything else.

Things were bleak and like most if not all SN mums I spent an alarming amount of time researching therapies, treatments, etc. ANYTHING that might help my boy, I looked into.

But I’m lucky, I’ve got insider knowledge…

I’m a scientist working in healthcare, so could identify which therapies were worth looking into which others were, well, not.

So, I trawled the scientific literature endlessly.

Then out of the blue, someone on another support group asked if anyone had tried the Snowdrop method… type type type into Google… and there it was. Snowdrop for brain injured children.

As I read I could feel myself getting excited – the therapy is based on what we have known for many decades; the brain doesn’t stop developing when we’re born but continues to form new connections between neurones and reinforce connections that are used repeatedly.

The posh term is neuroplasticity and it’s how we learn. So all the people telling parents that a child’s brain was damaged/malformed therefore they would never develop were inherently WRONG.

An email was sent off to Snowdrop that evening. And in the morning, a reply!

At this time we had no idea why Sams brain was misfiring so spectacularly; all we knew was that his prognosis was gruesome; lifelong seizures, severe learning disability, likely autism, severe visual and auditory impairment due to seizure activity.

What did we have to lose?!

So, when Sam was 18 months old we packed the car and drove down to the other end of the UK to Devon, to meet with the founder of Snowdrop, Andrew and his wife Janet.

That first meeting changed everything.

You know that horrible feeling when you go into an appointment with your child, they’re poked and prodded, lots of tuts are made, then the Dr proclaims that there is little/no hope or that the issues aren’t treatable?

Now imagine the opposite. Andrew watched Sam, intently from the moment we entered the room.

He assessed Sam as a child, not a collection of symptoms, and watched everything he did, how he responded to different stimuli and people.

He explained everything as he went along.

Eventually, he sat down with us and explained that our little guy wasn’t sensing the world as he should be – he could barely feel anything on his arms yet his feet were exceptionally sensitive to touch, to the point that it could be painful for him.

He was displaying a lot of newborn-type reflexes and was hypersensitive to sound in the range of the human voice – he literally switched off when we talked to him as it was uncomfortable for him to listen.

Andrew was excited by Sams potential and couldn’t wait to get started working with him – most therapist were doom and gloom, this was entirely new to us!

We left that meeting exciting and for the first time since the Sams nightmare began, we had hope for his future.

We’ve now been following the Snowdrop program for over 2 years.

In that time the following has happened; Sam has regained purposeful vision (something the opthalmology team couldn’t believe until they saw it for themselves), his hearing has pretty much normalised and he understand basic instructions; his tactile sensitivities have completely gone and he now feels the world as he should do.

He is no longer a catatonic child, unable to coordinate the simplest of movements – he has finally gained head control!

He can roll over, both ways, can kick, pull and push. He is learning to sit up and develop a sit balance. He is trying to stand.

Far from being non-interactive, he is a monkey who loves to play with Mummy and Daddy, and who thinks the cats tail is the best toy in the world.

Ever.

His eyes sparkle now as he realises how much world there is to discover… his neurologists eyes filled up when he saw Sam playing with his Dad, giggling like a loon as Daddy tickled him.

This man has been with us since the very start of the seizure Hell, and knew how horrifying the prognosis could be, in his words he was watching a miracle take place.

Snowdrop is not a cure all, nor a guarantee of success.

We simply don’t understand enough about the brain, and there will always be children who don’t respond or do so more slowly that we’d hope.

What it IS is a way that we as parents can harness our childs natural abilities to remould the brain and work around damage/problem areas.

Sam can’t crawl, but he’s worked out how to wriggle his way across the floor to where he wants to go.

It isn’t exactly coordinated yet, but its coming.

Andrew and Jan have had first hand experience of SN; the charity was set up as a legacy to their eldest son Daniel who passed away in his teens as a result of devastating brain injuries sustained at birth.

They have an empathy with SN parents, and understand how desperate we can be to help our children; each childs program of activities is designed for THEM and involves stimulating the areas of the brain which are not functioning as they should be.

It is a case of repetition to form new brain pathways, like learning to play an instrument… the more you practice, the better you become.

In the same way, we aim to do Sams entire series of exercises 4 times every day; each exercise takes a few minutes only and can be fitted in around our other activities.. although it took a while to get into the swing of things, its now second nature to do a couple of bits in the morning before school, then another couple when he comes home again.

He has a therapy CD to listen to, 20 minutes at a time.

Andrew and Jan are always there, supporting, encouraging, tweaking programs for each child as that child progresses.

They remind us that child development is not a set series of stages but a continuous process… in Sams case his motor skills are profoundly delayed – but in order for him to gain motor control, first he needs to get his tactile perception sorted, then he needs to understand how his joints move, THEN he can start to try and control his movement on the floor (wriggling, kicking etc).

And only once those building blocks are in place can the bigger changes start to occur.

It will take years of intensive therapy to overcome Sams difficulties and we have no way of knowing how far he can go but we’re not going to stop trying!

Honestly, I’d recommend it to anyone and everyone…. After all, what have we got to lose? X