Undiagnosed Children’s Day – The Call We’d Been Waiting For

For most people a call from an unidentified number is usually one to be ignored.

For me it’s usually from a healthcare professional – it could be any number of things.

To arrange equipment pick-up or to schedule therapy appointments. To talk about test results or medications or to discuss respite and direct payments.

With therapists, consultants, nurses and social workers involved in meeting my son’s needs these calls are fairly common.

So when my mobile rang in October 2015 and the screen flashed ‘unidentified number’ I answered it without thinking.

‘Is that Daniel’s mum? It’s the geneticist.’

I got shivers straight away.

His next sentence made me cry.

‘We have discovered a gene mutation that we think might account for Daniel’s disability.’

To say we’d waited almost 7 years for this call is a bit of an exaggeration.

In reality we didn’t even know Daniel had an undiagnosed genetic condition until he was about 2.

He didn’t join Deciphering Developmental Delays, the genetic testing programme here in the UK likely to provide us with a diagnosis until he was 4.

But for a long time our hopes were pinned on DDD finally providing us with some answers.

So that phone call felt fairly momentous.

I was shaking phoning my husband to share the news. He cried too.

Actually after the initial shock, the initial tears we realised that this BIG news was really NO news.

It’s the word ‘think’ that caused the problem.

‘We have discovered a gene mutation that we THINK might account for Daniel’s disability.’

Not ‘know’, not, ‘we’re certain’, not, ‘we’re 100% sure’ – just we THINK.

That means that more testing is needed which means more waiting. Another 18 months and counting of waiting.

This left us with the decision of do we or don’t we share this, ‘no news’, with friends and family.

It felt easier to say nothing, but then it felt unfair not to share with those that have been part of Daniel’s undiagnosed journey.

Unreturned calls and emails to the genetics team tell us that there are still no answers.

So when we’re asked the question ,‘What is your child’s diagnosis?’

Our answer is still, ‘Undiagnosed.’

My Non-Verbal Son Can Communicate

The older he gets the more and more I notice people being uncomfortable regarding communicating with him.

I used to get very upset, assuming people were just ignoring him, but the more I think about it the more I wonder if people just don’t know what to say.

He’s not going to answer back so I guess it can be intimidating coming up with something to say.

I’m going to let you in on a little secret.

Being non verbal in no way means that he cannot communicate.

He may not have any expressive language but he does have receptive language.

(Receptive language is the ability to listen and understand what is being communicated to you.)

Exactly how much is still a mystery but please don’t underestimate him.

I can give you countless scenarios where he answers me with the “correct” answer.

Me: Do you want to watch a show?

Him: Giant smile with a giggle.

Me: It’s time to brush your teeth!

Him: Rolling away from me and starting to cry.

He’s communicating.

Please don’t treat him as if he’s less than or, “dumb.”

Not only is this hurtful to him but it also makes you look completely ignorant.

When you say things like “he doesn’t know,” it’s you, in fact, who doesn’t seem to know or get it. He is smart. He knows.

Look at him, look into his eyes and see. Watch his face, read his cues.

You just need to learn how to communicate with him his way, not yours.

He’s a little boy. First and foremost he’s a child. Treat him like you would any other little boy.

Compliment his shoes. Tell him you like his hair or his shirt. Ask him to read a book or show him a toy. Ask him for a high five.

Love him. Speak to him. Simple.

Don’t ignore him. I was recently talking to a friend about this and she said something very profound.

She said, “Anyone who ignores him should assume that he knows they are ignoring him.”

Again, he knows.

If you take the time to get to know our son, you will soon realize that being nonverbal means anything but the inability to communicate.

All it means for him is that he doesn’t speak words.

He speaks with his voice in different sounds.

He speaks with his eyes.

He speaks in his cries.

He speaks in his body language.

And most of all, he speaks with his smile.

Dear Lidl,

In our house, there is my husband (and myself), our two children and the dog.

Our oldest son Daniel is a wheelchair user.

We love having a mosey around our local store.

We are there quite regularly.

Your staff might even recognise us.

They probably won’t recognise Daniel though.

We don’t get to take him very often as it’s a bit of a struggle to push his wheelchair and push a trolley at the same time.

Instead we take Daniel to Tesco just across the road – I drew you a map so you could see how close it is.

The reason we take Daniel there is, they have a GoTo Shop trolley.

It’s a specially adapted trolley that meet Daniel’s needs and thousands of children with disabilities and additional needs.

It has an open front making it really easy for me to transfer Daniel from his wheelchair to the trolley. It has head and side supports as well as a five point harness.

It’s just what he needs.

So you can imagine my excitement when I heard on the grapevine that Lidl were trialling a GoTo Shop trolley in a store in Scotland.

Our family would be delighted if you decided to roll-out the GoTo Shop trolley across your stores. As would thousands of other families living throughout the UK.

We love Daniel being a part of our local community – that means giving him the opportunity to visit, shop at, and enjoy everything our area has to offer.

A GoTo Shop trolley at our Lidl local store would really help us achieve this.

Yours in hope,

Claire Smyth

Ps Our local store is Newtownards, County Down

If I Could Write a Letter to Myself

If I could write a letter to myself, I would start with telling myself that it is OK.

It is OK when you just don’t feel like getting up early and spend an extra hour in bed.

It is OK when your kids are screaming and crying at the doctor’s office and you hand them skittles just to quiet them for a second.

It is OK when you go for takeout because after an exhausting day out and about, you just don’t feel like making dinner.

In each decision you made, whether it was an extra hour in bed with the kids, giving them candy, or picking up food on the way home, they were all thought of.

They were fed. They were rested. They were bribed. It is all okay.

Next, I would thank myself.

Thank you for taking the extra time online, to look up the coolest crafts to do at home. Someday, the kids will look back and realize what quality time was spent during those hours.

Thank you for fighting, even when you just felt like laying down and never getting back up again.

Thank you for still putting in the time to take care of yourself, even if it meant fitting in a shower finally around midnight when the kids were asleep.

Thank you for striving to be nothing less than amazing for your kids.

Lastly, if I could write a letter to myself, I would remind myself to enjoy every second I have with my family. The good. The bad. All of them.

Without the bad, we sometimes fail to appreciate the good.

There have been a lot of rough times in my path, but I would not be where I am, as strong as I know I can be, without those.

I would not know just how hard I can fight for my kids, had I not been put through those battles.

When you feel yourself getting so caught up in the negative and worrying about what is clean, needs cleaning, etc…. take a minute to just enjoy the presence of one another.

Each second that passes, your children get older and before you know it they will be adults one day.

Do what you can, when you can. Live this beautiful thing called life with them!

Remember, you are a great mom and God put you on this earth with one amazing husband and three adoring young boys.

The Day I Discovered SWAN UK

We had no clue about the journey we were about to embark on.

I certainly don’t remember any professional tell us that our child had an undiagnosed condition.

I do remember words like genetic testing, rare condition, and microarray.

I also remember asking was there anywhere we could turn to for advice and support and the geneticist looking at us quite blankly.

We left that first appointment without even a leaflet to read.

Shortly afterwards, I set about googling the various terms I mentioned above and discovered Unique – the Rare Chromosome Disorder Charity. Click here for more information.

I made a call to them and a very helpful member of staff advised me that yes we could join but that the majority of their families had a diagnosis of a rare chromosome disorder.

I joined their Facebook group and ‘met’ a lot of very helpful families but I still had the sense of not really fitting in.

We then heard through Unique about a new project being set up by Rare Disease UK which would be called SWAN UK – Syndromes Without A Name.

It was aimed at supporting families of children who did not have a diagnosis for their disability or condition. Click here to find out more.

I emailed their co-ordinator Lauren that very same day – [email protected].

Within a very short space of time I was put in touch with another family with a child with an undiagnosed condition and we began to chat via Facebook.

More and more families joined – our community grew and grew.

With it my sense of belonging, my knowledge, my network and my number of friends grew with it.

At the same time the loneliness, the despair, the sense of hopelessness diminished.

Over the past 6 years it has been amazing to watch SWAN UK grow in to a nationwide community of families supporting each other through our undiagnosed journey and a charity it its own right.

We have been there for each other for the highs and lows. Thousands of us.

We’ve made online and real life friendships.

There have been get togethers, weekends away, family fun days, information days, conferences, leaflets handed out, posters posted and fundraising done.

So much has been achieved in a very short space of time.

I don’t think it’s overly dramatic to say I wouldn’t be in the good place I was in if it wasn’t for the support that I and my family have received from SWAN UK over the years.

So on this 5th Undiagnosed Children’s Day I would like to say a massive thank you to the undiagnosed community and encourage anyone with a child who is undergoing genetic testing to get in touch.

You won’t regret it!

Wedding Bells

As you can imagine… I cried!

There was lots of talk about hopefully having Zachariah walk up to the front using the Upsee, but they stressed that they wouldn’t be upset if for whatever reason this wasn’t feasible.

The special part was just having their nephew there at the church being part of the celebration.

My husband and I gave the Upsee a good go, but reality was Zachariah had so much going on that he just wasn’t managing the standing frame, let alone the Upsee.

We told my Brother that he would have to be in the buggy, we would clean it up, and the ring cushion could be placed nicely on his tray.

Little did we know, this was the least of our worries and we would face new challenges of actually getting Zachariah to the wedding.

The day before the wedding, Good Friday we set off to Church and planned to get last minute preparations sorted that afternoon and have an early night. Although, Zachariah had other ideas.

Recently his epilepsy has been out of control and after 1 trip to A&E he had been given a new drug, but nothing was changing, the seizures just kept on coming, one large one occurring during the church service which led to an Ambulance ride to the Hospital!

The consultants came and advised an overnight stay and the prescription of rescue meds to be sorted the morning after.

I pleaded with the nurses to do everything they could to get Zachariah discharged before the wedding but knew in my heart that Zachariah would come first and if it wasn’t advised to leave, we wouldn’t.

Fortunately, Zachariah was discharged at 11am, 2 hours before he had to be at the church, so Daddy did a super job of getting him bathed, suited and booted just in time!

And what a handsome page boy he was! He looked so dapper in his suit.

We arrived and found our place at the front of the church to be confronted with huge, nasty Tonic-Clonic Seizure lasting around 4 minutes. My heart sank!

The pure pain I was feeling was nothing compared to the discomfort my son was feeling but it was painful enough to make myself unable to hold back the tears!

Epilepsy! Could you not stay away for 1 day, and allow my son to be a page boy for his uncle’s wedding?!

Wiping away the tears I had to brave it and walk back up to my seat and wait for the Brides arrival, leaving Tim to comfort Zachariah at the back of the church, who had yet again another seizure, this time lasting 13 minutes.

But he appeared very happy when coming round and gave lots of smiles.

When it was time for Zachariah’s job, Tim wheeled him up and I took him to his place, allowing the Vicar to take the rings from his tray, and then Tim took him back to the back where it was much quieter, leaving me to enjoy the wedding ceremony.

Yes I felt guilt, guilt that I was being selfish, but I also knew that Zachariah was with his Daddy, who could take him home if he felt necessary.

The blessing in all this is that after a huge sleep, Zachariah had a great afternoon at the wedding reception and went on to sleep really well at Nana and Grandads.

Another blessing was that my brother and sister-in-law had an amazing day, I pray that they have a blessed married life together.

This day, however made me realise just how much we are having to cater for Zachariah’s needs much more and it is clear that we cannot just fit into the crowds anymore, but we need to make changes to daily life to help Zachariah.

The biggest change being that we need to protect Zachariah from loud noise and music.

Whatever we need to do, we shall do for our Son. Xx


They say it and they wait.

I can feel their eyes on me.

I don’t know what the, ‘right’, response is.

I’m pretty sure there isn’t a right response.

There’s a pressure we carry, parents like us. Parents who have to make decisions about the care their child receives.

These decisions are huge.

These decisions are fundamentally ours to make but; we have to listen to what the experts are saying.

These decisions are nothing in comparison to the decisions every parent has to make for their child; and I resent that.

That’s the truth.

I can’t ask my friends for their advice. My own mammy can’t help me with the decisions we are now facing.

Doctors will only tell you facts and give you their medical opinion but the truth is they don’t know either what it is like to have such a burden (and it is a burden, making such decisions) hanging on your shoulders, weighing you down at every opportunity it can.

I know what most will say – you’ve always done right by Ethan and you will make the right decision now – I know that’s a lovely caring thing to say but really it doesn’t help.

The decision still has to be made and today as I read a letter from Ethan’s team the very last line took my breath away.

“We feel Ethan’s ERT has come to a natural end.”

I knew that’s what they thought, seeing it in print however, knocked me. It did.

I cried.

I took out my phone and I looked at all my photos of my Ethan. My tears came fast.

My breath began to labour and through blurry eyes I too, could see that perhaps it was time to give serious consideration to life without ERT.

Even typing that now is hard.

I knew also it was a way for his team to mention it again, as always I am invited up to Dublin at any time to discuss this decision with Ethan’s team.

Ethan is due up at the end of April.

I know the team will mention it again.

They need a decision, I understand that.

How does any parent make a decision to take away a life enhancing drug?

Sadly; I know many families who have had to make that decision and they tell me it’s quality over quantity when it comes to this stage in life with Hunter Syndrome.

I try to listen to them; those who have gone before us on this journey; the real experts.

We knew this was going to be part of our lives as soon as we understood what Hunter Syndrome had planned to do; but for so long, so very long, we hid from it.

We’d look at our Ethan and think ERT is doing great things for him, maybe just maybe he might see a cure in his lifetime…I scold myself as I type that but the reality is we all need hope and hope is what got us this far .

I’ve often been told by many other parents who have kiddies with extra or special needs that on some level I am the lucky one; I don’t have to worry about what will happen to Ethan after I die …to anyone else reading this, I assure you this has never been said in a nasty tasteless manner – I do understand what parents face and in a way I understand why they think this may bring me comfort, but it doesn’t.

It brings me more heartbreak – what will happen to me and our family when Ethan is no longer here and how do we go on?

Why do I have to watch a condition attack not only my son but attack us too, why do I have such horrible decisions to make …why can’t I just plan for his future regardless of his abilities?

No one talks about this side of being a parent to a child with such medical complex needs – the decisions …decisions and decisions.

From his medications right down to placing a peg to help him eat and now his ERT.

I’d like to take a break from it all.

I’d like time to stand still, just for a little while.

But; the harsh reality is a decision has to be made.

Ethan is calmer these days. He’s happier too. He is eating, sleeping and engaging with us too.

Ethan still has violent meltdowns.

We will sit with the experts. I have a detailed diary of how Ethan has been improving lately and somehow, some way we will make a decision, or at least commit to making a decision.

I don’t know what will happen.

But our decision will have Ethan’s quality of life at the centre of it.

Our decision will be all about Ethan and his needs.

And it is Ethan who will help us, in one way or another, to make that decision.

To parents who face these kind of decisions; I want you to know how brave you are.

You are so very brave, probably just as brave as your very special kiddie. I have nothing but respect for you guys. x

An Upgraded Easter

He started playing soccer and flag football with them at just two years of age.

All while using his wheelchair for mobility!

We were blessed to find a family like them, and they have held multiple events for everyone in the community with special needs children and their families.

Just recently we got to celebrate Easter, a little different, with everyone.

They, “upgraded”, many things to be accessible to all children, no matter their diagnosis.

They had eggs that would BEEP for children who are visually impaired. They had eggs tied to balloons, so children could come up in their mobility equipment and pick them up.

They had tables for children in wheelchairs to be able to reach the eggs at their own level and hunt (grass and all!).

They even had three other sections roped off: one being for crawlers, one for walkers, and another for the siblings.

Each event they hold, they are blessed with volunteers and amazing companies willing to donate their time and resources to the families all at no charge.

This truly is a wonderful example of a community working together to be able to give our children their own experiences for these things we can take advantage of.

It is a way of creating their own, “normal”. A safe haven for them to never feel secluded or left out.

My Oliver is such a welcomed face amongst the crowd, always running into someone he knows, and considers every one of them a friend!

After the egg hunt was over for Oliver and any other child with a special needs, the siblings got to take a turn in their own field.

This is a huge thing for me, as Aaden (Oliver’s older brother) is always so patient with us and understanding when we have to spend just a little extra time doing things for Oliver.

He sees these events and activities, and for a nine year old this is hard to understand and realize that it isn’t to seclude him but include them both to experience it together.

He got to hunt with kids his age, at their own pace. Aaden even got to enjoy some bounce houses with the other children.

With goodies galore and prizes to be won, we left the Easter Eggstravaganza with happy faces all around.

Best EVER Gluten Free & Sugar Free Almond Flour Brownies

A couple years ago, I searched and searched the internet for a suitable flour and sugar-free chocolate cake or brownie recipe, that would be suitable for a beloved family member’s birthday whilst on their strict diet… Because I’m thoughtful like that 😉

After a couple days coming up blank, I stumbled upon this amazing recipe and have made these countless times since!

Thank you so much Teri for submitting this on your blog!

The Ingredients are as follows:

– 2/3 cup honey

– 1/2 cup melted butter or coconut oil

– 1 Tbsp. vanilla extract

– 3 eggs

– 1 cup almond flour

– 1/2 cup cocoa

– 1/4 tsp. baking soda

– 1/4 tsp. sea salt (omit if using salted butter)

Basically just mix all these things together in a big bowl, it is super-quick to mix up a batch!

Bake for about 25 minutes at 350 degrees F/ 180 degrees C.

If you are not American and unfamiliar in baking with measuring “cups”, I highly recommend getting a set and trying it out. They are easily available on Amazon or online.

For this recipe, it’s a really quick way to get all your ingredients in the bowl with little fuss!

A few things that work well for me:

I use a silicon 8 x 8 inch square baking tray, with just a spray of oil.

I always opt for the butter instead of the coconut oil, but that’s just personal preference. (I mean who doesn’t LOVE butter?!)

I also prefer to blend up my own almonds to make the almond flour, as I like the slight texture it in turn gives the brownies.

I’ve used packaged almond flour too, the brownies are still good, they just don’t have that bit of coarse texture throughout.

You can easily make your own almond flour by quickly blending fresh whole almonds (no soaking needed) in your food processor or heavy duty blender such as a Vitamix or Blendtec.

So if someone you know is gluten free or avoiding sugar, give this healthier alternative of a brownie a go- I bet you won’t be disappointed!

If you’re anything like me, you’ll be pulling the recipe out, time and time again!

And, for a decadent, rich and sugary treat- these are really nice warm, with a scoop or two of vanilla ice-cream!

The kids and grown-ups alike will approve!