After a very rough pregnancy, my youngest daughter was born at 25 weeks gestation.

She spent over six months in the Neonatal Intensive Care Unit (NICU), and it was by far the hardest time of my life.

We didn’t know if she would pull through on many occasions.

After coming home at 6 months old, she was on oxygen, needed regular suctioning and was on a tube-feeding pump.

Up until she turned two, I took her to the Emergency Room every few months for chest infections and she was always admitted.

At four years old now, my ‘little miracle baby’ has many long-term health conditions due to her severe prematurity.

I couldn’t count on my hand the number of times my mom and my friends have said something to the effect of “It’s a good thing that you’re a nurse. I could never care for Brielle.”

These words stir up many emotions for me.

I’m not really sure how to process it.

Yes, I agree that my nursing background and previous learning has prepared me for some of the tasks and care needed to look after my daughter.

But this is my little girl… she is not my patient and this is not my job.

It’s entirely different caring for your own child.

I am thankful that my previous knowledge works to my advantage in caring for B but sometimes I just wish I didn’t have to be “nurse” to my own little one.

Why did she have to be born so early and why does she have so many issues?

Life is just so unfair, it really is.

I feel like my nursing did not prepare me for many things that I have dealt with since having B.

I had never seen a premature baby, never set foot in a NICU or held a teeny baby on a ventilator with all sorts of wires and tubes attached.

Getting her out of the incubator and onto my chest took the assistance and watchful monitoring of three professionals and was highly stressful at first.

No amount of training prepares you for seeing your precious babe hooked up to all sorts of machinery and fighting for their life, countless alarms beeping in the background.

I have many friends who’ve learnt the expert care for their children, with no nursing or medical training.

You just have to.

If you have a child with medically complex or special needs, you pick up the skills you need to best deal with their care and help them thrive.

That is a parent’s role and calling.

We do it out of pure love.

And I believe that you could do it too, if that is what life brings your way.

I know my life is so much fuller and happier because I have Brielle.

I’m not saying it’s been smooth sailing – far from it.

It’s been a rollercoaster ride.

But at the end of the day, to see her little smile and her eyes light up, although she cannot talk, makes everything worthwhile.

There are absolutely no blessing in my daughter, Bethany, having had a brain tumor nor are there any blessings in the disabilities she has acquired from complications during the surgery required to remove it.

Granted, I do believe it’s true that having a child with a life threatening illness has taught my family the things that are most important in life.

I’ll be the first to admit that some good things have happened to us that never would have happened if Bethany had not gotten sick.

Because of Bethany’s illness people who would probably otherwise never have chosen to bless us have become huge blessings in our lives!

Yet even so, to say that my precious daughter’s suffering through months of excruciatingly painful cancer treatments, living with daily debilitating seizures, and enduring the emotional torture of having a difficult to control behavior disorder would be an incredibly unloving and cruel insult to her.

I wouldn’t cure my child even if it were possible

Sadly, I’ve heard many parents say this.

They believe that taking away their child’s disability would be taking away their identity or the essence of who their child really is. If your child is truly happy and not suffering physically or emotionally in any way from their disability, then I certainly have no problem with that!

But my daughter has suffered the unspeakable tortures of brain tumor treatments. She still suffers with physical pain and suffering from having seizures every single day.

She suffers the emotional turmoil of sometimes not being able to keep herself from hurting the very ones she loves the most and she battles with the side effects of several seizure medications bombarding her brain every single day.

If a doctor told me today that they could cure brain tumors and cure Bethany of her seizure and behavior disorder right now, you better darn well believe I’d take them up on their offer in a New York minute.

What kind of a parent would I be if I could relieve my daughter of her pain and suffering but chose not to?

God has never given me more than I can handle.

I am reasonably certain that I’ve been given way more than I can handle many times over already.

I can assure you that standing by while helplessly watching my daughter suffer for fifteen years has been more than I can handle.

Seeing my daughter lying on the couch in a seizure stupor, unable to participate in normal, everyday activities that most people take for granted nearly every single day of her life for years on end has been more than I can handle.

Seeing my daughter disappointed yet one more time because seizures have prevented her from participating in an activity that she has been looking forward to has been more than I can handle.

Worrying about what will happen to my precious, beloved daughter when I am no longer here to care for her is more than I can handle.  I know that I have been given more than I can handle during the many times I have felt utterly alone, helpless, and hopeless and all I wanted to do was crumble to the floor in a crying heap.

My daughter’s disabilities are God’s Will.

God may well have allowed my daughter to get a brain tumor and become disabled for reasons He only knows, but I can’t and will never believe that it is His will that she or anyone else becomes seriously sick, disabled, or suffers in any way.

I may never understand why Bethany has been asked to suffer in such a dreadful manner or why God did not prevent it from happening, but I absolutely must believe that someday I will understand why, that it will all make perfect sense to me, and that it will have been for some grand and noble purpose.

I give up. 

Though it may seem at times that there is no hope of Bethany ever having a life free of seizures and debilitating disabilities,

I will never give up hope or searching for that one elusive medication, treatment, or therapy that just might set her free her from all her pain and suffering.

Sam, like many, many others, does not have a definitive diagnosis that explains why he has the range of issues he has.

It also means we have no prognosis to allow us a glimpse of what the future may hold, or to guide us as to the best therapies to bring him on developmentally.

We are, to put it plainly, in the dark.

When Sam was first admitted to hospital with seizures, the neurologist was very careful with his words as he gave us the results of the MRI scan… although there were changes, it was unclear what those changes meant for our baby. 

As he gently explained, we don’t perform MRI scans on healthy infants, so it would be a waiting game to see what those changes might mean or if they were just part of normal development. 

Sam was, after all, an early baby.

He had stopped growing suddenly at 35 weeks into the pregnancy and arrived by emergency induction of labour shortly after. 

He was ready to come, the induction went smoothly and I didn’t need any additional hormone therapy to get things moving! 

Seeing some developmental delays is normal in early/premature babies, and more often than not they make up that developmental ground as they grow older until there is no difference between them and their peers born at full term. 

Prior to Sam’s first seizure, there had been signs that all was not well; his development was indeed delayed and he struggled to gain head control, his visual tracking abilities seemed to be regressing rather than improving.

After several weeks of feeling increasingly uneasy, I had finally managed to get our health visitor to take my concerns seriously and she was due to check him over a couple of days later…

Sam had other ideas, and threw that first seizure before she had a chance! The first weeks after that seizure were terrifying.

Sam had experienced a life-threatening complication of epilepsy termed status epilepticus while at the hospital.

In effect, the seizures were not stopping and unless they were stopped medically his heart would start to struggle to put him at risk of a cardiac arrest.

He was all of 14 weeks old.

But we knew about epilepsy – we just needed the right meds, ok?

Over the weeks that followed it became apparent that seizures were just one of Sam’s problems.

His head control was cause for concern, the changes to his vision were seizure-related but that didn’t explain why he had such low muscle tone and was floppy as a newborn.

He made a really disconcerting noise when breathing, as his airways were floppy too.

He was, however, growing well and gaining weight which ruled out a lot of conditions fairly quickly.

Before he was even 6 months old, Sammy had experienced multiple blood tests, lumbar punctures and all sorts of other procedures to try and find out what was wrong.

All the tests came back negative – as far as anyone could tell our boy was absolutely fine, although it was very, very obvious that this was far from the case.

As he has grown older, more issues have become apparent – Sam has a dangerously unsafe swallow and aspirates fluid and food into his lungs instead of swallowing them fully into his stomach.

As a result, he is now 100% tube fed.

This, however, has uncovered some new issues – Sam seems to hold food in his stomach far longer than usual, and his gastro team is currently looking into whether he has true delayed gastric emptying (gastroparesis).

His reflux has become more evident now he’s on a liquid formula diet instead of solid food, and this is playing havoc with seizure control.

It took us 2 more years before we had any answers at all to explain Sam’s disabilities… it was a second MRI and a very determined medic looking at the scan very, very carefully that identified the areas of abnormal neuronal migration that gave Sam a diagnosis of polymicrogyria.

PMG, however, is a description of the condition rather than a diagnosis as such, we will in all probability never know why our little boy’s brain didn’t form correctly; multiple causes have been identified including genetic, infection, etc.

Sam’s neurologist is certain that there is a genetic cause for Sam’s PMG as it isn’t diffuse but has occurred in specific regions of his brain.

However, finding the answer would be like looking for a needle in a haystack, and after much discussion, we have decided not to put Sam through any more invasive tests unless they are absolutely necessary.

We have decided not to pursue a diagnosis at all costs. Instead, we are starting to accept the hand that fate has dealt us, and are loving the child we have been blessed with.

So, what does it feel like to have a child with an undiagnosed condition? It is far more difficult to get answers from professionals – many symptoms our children experience are generic and may or may not be related to their condition.

Many symptoms appear to be totally unrelated, such as slow growth and sensory processing issues.

Many of our children have problems affecting more than one body system – in Sam’s case he suffers neurological and gastro issues.

In many cases the Doctors are as much in the dark as we are, and that is a very difficult situation to be in… we *need* the Doctors to know what to do and to have a clear plan of how to treat our children, but when they themselves struggle to make sense of the puzzle it feels very isolating and very, very frightening.  How can we make the right choices as to treatment when the people who know most about the therapies etc., are unable to advise us?

When a child has a recognised disability, getting help from local authorities, charities and other support agencies are significantly easier than if you have to say that your child has no confirmed diagnosis.

It is also the most frustrating experience I have ever known.

In Sam’s case, his physical issues hide his true potential – being undiagnosed makes it too easy for the powers that be to say he is less capable than he is, and it makes it a very difficult battle to fight.

But with all the negatives come quite a few positives.

We have no prognosis to read up on, or to scare the wits out of us!  We have to live day to day, just like any parent would.

There are no limits placed on Sam as to what he will or won’t be able to do, we just have to work with him a do our best for him.

If a therapy doesn’t help him, we ditch it. If one does, despite the professionals saying it wouldn’t, we continue.

In the past 4 years, we have learned what we are capable of, and it’s far more than we imagined… we’ve discovered how strong we can be, too.

Sam shows us what it is to love unconditionally, and we, in turn, adore our little hero.

Due to the strong likelihood of a genetic link, and given issues I had during the pregnancy, we have made the decision not to have any more biological children; we just couldn’t put another child through what Sammy has fought through.

Does that mean he’s any less of a joy to have in our lives? Of course not. Undiagnosed he may be, but his story is only just beginning x

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/

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.

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.