Turning Four

I can’t even believe this little boy of mine has turned four years old.

Seems like just yesterday that I was in the hospital watching him grow in his little NICU incubator.

He came in to this world at three pounds strong, and he has pushed forward day after day.

We decided to do a local air show that was in town for his celebration.

The Blue Angels were coming to fly their jets and Oliver just loves planes right now.

Unfortunately, with this crazy Texas weather, we had about the coldest day of the season on his birthday and it was about 40 degrees Fahrenheit with a wind gust of 20mph.

It was ridiculously cold! Too cold in fact, that we only showed up to give him a quick tour of the planes available to view, and we left on to the next part of his day.

(The Blue Angels did not even end up flying that day due to the winds).

Our next stop was a local pizza joint which has arcade games for the kiddos to play while the grownups chit chat.

With a few games out of order, Oliver and his friends still managed to make the best out of it. Gaining over 1,000 tickets!

With prizes and gifts in hand, food and cake in our bellies, we ended the day with some karaoke at home.

Aaron and I had one more special surprise for Oliver back at the house, which was a Wild Thing for him.

If you have never heard of this, it is a power wheels device that almost acts like a power wheel chair.

The handles on it move with the same concept and it only activates when there is weight in the seat.

It really has been awesome watching him use it, as it manoeuvres in the grass and hard ground with ease.

He also took no time learning how to use it because his manual wheelchair uses the same concept for getting around, turning, and going straight.

I highly recommend this to anyone who may have a child that cannot use power wheels with the foot activated controls, and instead can use the handheld ones.

Oliver turning four may have seemed like any other day to him (as he thinks his birthday is coming soon again, lol) but I know he has the memories to cherish just as I cherish all the ones from the day he was born.

It’s Time to Talk about Toilets

And strangely enough, that applies to those individuals who are in wheelchairs or have severely limited mobility as well as those who are fully mobile, although you’d be surprised at how many supermarkets, attractions and parks don’t seem to understand this basic fact of life.

Allow me to elaborate.

Sam is fully reliant on his carers for all his intimate care.

He is doubly incontinent and now too tall/heavy for the baby change tables.

He is also almost 7 years old; and cognitively far more intact than most people realise.

He does not want to be changed on the floor of a toilet.

For goodness sake, they even give you a hook for your handbag so it doesn’t have to touch the floor!

It isn’t just uncomfortable; its unhygienic.

Not only that, but most standard disabled toilets aren’t big enough to get his wheelchair, a carer AND Sam in, at the same time.

As Sam grows it becomes more and more difficult to find places to change him; after all, while most people probably wouldn’t be overly shocked to see a baby having a nappy change on a park bench I very much doubt the same would be said if it were a young adult being changed.

Or a not-so-young adult for that matter.

And that is before you consider their dignity, comfort and privacy (the disabled individual that is, not the onlookers).

And yet, it doesn’t have to be this way.

As a good friend stated in her blog (The Inclusive Home), a fully accessible toilet facility doesn’t actually have to be much larger than your average car parking space.

It just needs a changing bench, a hoist, and the obvious sink.

And the difference that having these facilities makes?

It means we can go places as a family.

It means Sam and his fellow superhumans can have the same dignity afforded to them that others take for granted.

So, a huge shout out to Trentham Gardens in Stoke on Trent, Cadbury World in Birmingham, and all the other places that have made the effort to put in a Changing Places facility.

It’s time others followed suit.

Surprise Inbox

Last year we completed our genetic testing with a result.

We were given the answer we had sought.

Our son had a change in the TUBB2B Gene resulting in an underdeveloped brain.

It was then also shared with us that this was an extremely rare mutation that was unlikely to happen again.

They said there weren’t many other children with the same genetic mutation and at this point couldn’t connect us with another family.

I thought nothing more of this, as I didn’t feel it absolutely necessary to connect with other families.

But there was a little part of me that was open to it, if the opportunity came about.

We had either met or connected with other families who had children with lissencephaly, microcephaly, epilepsy, visual impairment, feeding tubes, and felt that we had developed wonderful friendships with many families we could relate to and share support and experiences.

So, I guess there was no burning desire to meet families who had a child with the same mutation.

The genetic side of things were forgotten.

It became a rare occurrence that I would speak about the TUBB2B Gene.

Let’s say, there was no real need to discuss it as it wasn’t in our daily routine.

Things like therapy, consultations, equipment reviews etc didn’t require any discussion over his diagnosis, it was more the disabilities, epilepsy, reflux side of things that were mentioned, the obvious struggles Zachariah was facing.

Then earlier this month I received a Facebook message from a lady in Italy.

Her message explained that she had come across my name in Google after searching ‘TUBB2B Gene’.

This lady wanted to introduce herself, connect, and share stories as she too had a child with the change in the TUBB2B Gene.

My initial reaction was quite laid back, I thought to myself that it was lovely of her to connect, but also shocked that we were found via Google… power of the internet for you!

With not much thought, I replied.

This lady wanted to know everything about Zachariah and how the Gene mutation had affected his life.

I shared our story as detailed as I could and answered everything I could.

It then occurred to me how thorough this lady was and how keen she was to know more about the mutation and find a cure.

When we received the diagnosis, that was it, it was the answer without any further questions.

I started to doubt my decision to leave it be and wondered if there was more to it.
I told my husband about all of this and his reaction told me that we were right to leave it as there’s nothing more to it than it’s an extremely rare mutation that happened during the making of Zachariah, which was completely out of our control.

I then received videos of her child and found myself feeling thoughts I hadn’t felt for a long time.

It was here I started to panic and feel extremely uncomfortable and not in control of my emotions.

I think deep down I hadn’t wanted to see another child with the same rare mutation as I wouldn’t like to compare.

The videos showed a happy, gorgeous, vocal child who was so active and aware, they showed a child who could feed herself solid foods and communicate quite well with her Mummy.

My heart began to beat ridiculously fast.

My heart was full of joy for this little girl.

My head was confused!

How can 2 children with the exact same mutation be so different?

Why did Zachariah face so many more challenged and life limiting conditions?

For a minute I lost myself again, and my reasoning that I had worked so hard to achieve.

It didn’t happen instantly, but I did come out of this and this Bible verse popped in my head,

“As you do not know the path of the wind, or how the body is formed in a mother’s womb, so you cannot understand the work of God, the Maker of all things” Ecclesiastes 11:5.

It was here that I was reminded that each and every child is unique and wonderfully made, and just because these 2 children have the same mutation doesn’t mean they should be identical…

As how would that be fun anyway, as Zachariah is who he is and he is an absolute diamond!

He has his quirks, his achievements and his humour.

Would I want to have him the same as another child?

No! I want him for who he is.

This lady has now formed a Facebook group with 4 other families in there too.

I will be joining in and sharing Zachariah’s achievements and struggles with them, but I will be protecting my heart from comparisons.

Life is a journey not a done deal, we will stumble across the same barriers but it’s what we do with this that will make sure we are back on our journey and enjoying life once again.

Undiagnosed Children’s Day

I blame my grandmother who had an extraordinary kitchen garden, that she was constantly tending.

I love to wander around gardens quietly murmuring the names of plants I know under my breath.

Finding an app that supplements my knowledge was a day of great excitement.

Photograph a flower, the app matches it and presents you with the possibilities in order of likelihood.

When you have a child whose development or heath is unusual, rare or unexpected the approach a Paediatrician takes is similar.

Take a case history, do a physical examination, run it past an internal database of likelihood, then match that against test results.

If none of the results match a known condition, it’s likely that you will be given a general label like Global Developmental Delay, that describe the symptoms, without naming the cause.

If you are a parent this can be very difficult and provokes hard and uncomfortable questions

How will my child progress?

Will my child catch up with their peers?

Could we pass the condition onto further children?

Will my child die?

Is there a treatment?

Truly no doctor can answer these questions fully, even with a diagnosis, but they can use other knowledge to look at likelihoods,and point the family in the direction of tested treatments and (importantly) support groups.

Did you know that approximately 6,000 babies are born in the UK a year with significant difficulties that have no diagnosis?

I do, only because Pearl was one of these babies. For nine years we had two pages of A4 describing results of every kind of scan, metabolic and genetic test known to Science. But still no answers, and a growing list of questions, which were added too with every new medical event, or milestone missed.

The world finds this a strange and disturbing situation. Many people clearly thought we had the wrong doctors, or just were not trying hard enough.

It was an odd and lonely position to be in.

Fortunately, we found SWAN UK. SWAN (or Syndromes Without A Name) is the charity run by the Genetic Alliance to support parents and families of undiagnosed children, and the children themselves.

There is information, days out, online support and best of all a general feeling of belonging.

The Genetic Alliance is involved in continuing research, and because of the involvement of SWAN Pearl’s DNA was entered into a project called Deciphering Developmental delay, aiming to find firm diagnosis. Some children who took part still have no diagnosis, and those, like Pearl that do have very rare genetic conditions.

Pearl has novo mutation in GNA01 (with plenty more specific numbers, that are even harder to understand) It has been caused by the deletion of a single amino acid in the genome.

It is extraordinary to me that science can study the genome in such detail, that such a small change in genetic information can cause such big changes in development, and frankly that anyone develops ‘normally’ at all.

This year the theme of Undiagnosed Children’s Day on the 27th of April is Super Heroes.

Look forward to seeing Social Media filled with fabulous individuals whose superpowers including dealing with daily uncertainty about the future, and rocking a cape and mask.

Because of the Super heroes involved with SWAN, now we have Pearl, a diagnosis, our friends at SWAN and a whole new GNA01 family!

Which is (on my birthday, also Undiagnosed Children’s day) a whole new thing to celebrate!

In Honour of the Superhumans

I’m talking about the remarkable, inspirational and tough-as-nails kids who live with life-limiting, life-changing and life-threatening issues.

I count my boy as one such superhuman; warned at 6 months of age that our boy would never interact, communicate, or have any quality of life, Sam evidently heard this and decided to show precisely what he was capable of.

And he isn’t the only one.

Several years ago, we met an amazing lady whose little boy, Ayden, had just been diagnosed with catastrophic epilepsy; the same rare but devastating form that Sam had suffered during his first year of life. Together with another amazing little superman, Harry, these three boys set out to show the world exactly what they were made of.

Harry decided that enough was enough, and at the tender age of three passed away surrounded by his loving family, and the world felt less bright for his passing.

It was also becoming apparent that little Ayden was fighting much bigger demons than anyone of us had realised; he was losing the battle.

His brave parents have accepted this and do everything within their power to keep him at home, safe, comfortable and happy.

Many, many times in the last 18 months his family have been gently told to gather family to say goodbye.

And every time, Ayden kicked the Grim Reaper in the shins.

I swear to you; this child was forged out of titanium.

Earlier this year we were guests at a very special event – Ayden’s 4th birthday party.

This remarkable little boy not only made it to this landmark date but was awake throughout the majority of his party!

Move over Robert Downey Jr. – Ayden is the real ironman.

I hadn’t planned on ending this post like this, but two days ago my heart cracked straight through once again, as Ayden finally stopped fighting.

The fight this little boy demonstrated is superhuman, his strength was formidable.

We all know that even superhumans have to hang up their outfits and rest, but without Sam and Ayden our families would never have met, and we wouldn’t now have them as friends for life.

My heart hurts for them and I will miss this little guy terribly.

Top Tips for Taking the Stress out of Birthday Parties

Believe me, I KNOW how stressful parties can be!

Here are some things I’ve learned along the way…

Find an activity or venue and have the party there – food & all!

It is SO much easier to have all the excitement (and mess) at a venue and not in your living room and kitchen!!!

All you usually have to bring is cake and candles!

We just had a joint party at our favourite soft-play area for the younger girls and it was amazing- the kids all loved playing, I loved not having to cook at all or clean up afterwards!

For my teen, we went to a laser-tag place and ordered pizza there afterwards.

Keep Things Simple

It can be so fun to get all detailed and fancy on decorations, cake, party favours etc.

But it will all be quickly forgotten lol!


Kid’s always love a good party bag, balloons, yummy cake and snacks, fun games!

Make sure you cover the main things but in my experience, no need to be over the top or perfectionist about it – fun and simple is key!

Especially for my youngest with special needs and her friends, they care much more about the sensory experiences of the party, and  their ability to PLAY at the party.

Don’t try to do the party SOLO…

I’ve done this before and totally wiped me out and sent my stress levels through the roof!

Always take up your partner, friend, older child who offers to help out in any way – the more hands helping out, the lighter the load!

It’s about being a good delegator and keeping things running smoothly.

Know your Child’s Wants & Priorities

It’s SO important to know what your child wants and enjoys most – in order to plan and prioritise for the party!

Depending on their age and development, let them be involved in the planning!

It’s so exciting for them…

My 9 yr old designed her ice-cream cake, planned some games and helped choose party favours.

For my 7 yr old with complex needs, we knew the most important things to her would be to have her buddies from school, be at a familiar soft-play area she ADORES and help blow out the candles and all that – perfect party for her!

What can Carers do about Stress?

Apart from the possible things like carrying, lifting or simply be kept all night, some sources say that the chronic stress of caregiving ages mothers by ten years.

Parents of autistic children get sicker, too.

A study from 2012 discovered that parents with autistic kids were more likely to get common ailments such as colds, coughs and headaches as a direct result of the increased stresses linked to their caring responsibilities.

Even the NHS list being a carer as one of potential causes of stress.

They say thatit’s important to tackle the causes of stress in your life if you can, but that not always easy as a carer is it?

Their advice is to accept there’s nothing you can do when you have to and refocus your energies elsewhere.

So, here’s some of things I try to do to refocus and do something either for me and the family:

Enjoy the small things.

When the big things seem difficult to deal with, it’s sometimes worth giving you remind a break and looking at the smaller joys of life.  I could worry endlessly about the boys’ education at the moment.  It’s in turmoil.

But if I worry about this all the time I miss out on David’s massive smile while I push him on the swing, sharing Anthony’s delight when he finally gets past that level on the playstation or even the fun of playing with a big balloon.

Common every day (mostly) occurrences that lift the spirits and relief stressful thoughts

Take time for myself

Whether that be reading a book, enjoying a film or having someone come to the house to do my nails.

Me-time is good time.

And it’s easily missed when the kids’ needs seem to be great.

But you must look after the carer, and a bit of pampering goes a long way.


No I don’t mean I’ve joined the gym, but I try and take a short time when I can to fit a little exercise into the day.

Walking to the shop instead of driving.

Scooting to the school or using a short workout app.

I always feel better afterwards even if it has only been for a few minutes.

What suggestions would you give?

Home Thoughts from A Broad

Things I have done and regretted, to save you the bother of trying them.

If you too are attempting to juggle a career, various pets and an assortment of non-typical children, you probably find yourself at the bottom of the pile.

‘Me time’ may involve going for a quick wee.

It is worthwhile making time for yourself, but keep your eyes open, your wits about you, forward plan and be aware of your environment.

If not,you may find yourself:

Brushing your Teeth with Savlon.

It is in a blue toothpaste like tube, it squeezes out onto your toothbrush in a white toothpaste like way. It is NOT however, nor does it taste like toothpaste. Despite probably making your mouth antiseptic and germ free it leaves your teeth feeling furry, like a bad hangover. Not one to try.

Applying Sudocrem to a small persons nether regions and leaving it in reaching distance.

The bonus of this is a quick indication of how far said small persons fine motor control, reaching balance and general determination has progressed, not easily measured on a standardized developmental scale.

The flip side is having to remove the zinc based white substance from the individual’s (let’s call her Pearl) hair, eyes nose and all furnishings and room décor.

On the last occasion (no I don’t learn from my own advice, yes it has happened more that once)Pearl went to school with the pallor and demeanor of a cheerful eleven year old Goth.

Putting Contact Lenses in without fully rinsing soap from your hands.

From distance it probably looked like I had perfected a new hip hop dance style, followed by a sudden realization of my own mortality and prolonged weeping.

Apologising for Things Done or Requested.

It weakens your case and is often a female default. Think, would a man do that? No? Then don’t. People may call you bossy rather than assertive, but frankly who cares?

Caring Too Much.

Not about your significant others, or your non typical offspring but worrying about what people think of you, your face, your hair, your opinion your child’s screaming.

Try not to wait until the advanced age of 47 to stop caring about these things. It’s a waste of time, you cannot control what people think of you, and chances are it’s not even what imagine.

Generally speaking I couldn’t care less.

See also taking yourself too seriously (although not your opinion which is valid and you are entitle to)

In Conclusion;

Life is too short to:

– Drink bad coffee
– Completely avoid sugar
– Spend time with people who don’t get you
– Persevere with therapies that make you or the child miserable
– Or eat olives (that might just be me)

Please feel free to step lightly into the carefree future.

You are most welcome.

Finding Physical Activities Your Child Loves

For those few hours after school or if they are still little and at home with you all day?

My little munchkin is seven years old now – it’s hard to believe!

Although she has hypotonic cerebral palsy and cannot walk unaided yet, that doesn’t stop her being VERY active and inquisitive.

She scoots independently on her bottom, or can walk hand-held or with her walker.

Having multisensory impairment (deaf and mostly blind) only seems to heighten her curiosity and amazement with the world!

We recently stumbled across the perfect local indoor soft-play.

And have invested in a monthly pass as it’s such a great gross motor skill exercise or ‘physio’ for Brielle.

She has great fun on the slides, the ball pit, stacking blocks, climbing and much more.

Thankfully her 11 yr old sister loves to be her helper so it gives me a little bit of a break (added bonus – they don’t charge for her!)

Living in Northern Ireland, soft-play is ideal for most of the year when it tends to be rainy and overcast!

That being said, there are many soft-play areas that didn’t have much things that she could do really, so it’s about being picky and finding a good fit for your child’s individual needs.

A great playground with swings, slides, ‘twisty-things’ is hard to beat!

Walking to or popping into the playground on our way home from school is one of Brielle’s very favourite things to do!

Again, it encourages physical movement and gross motor co-ordination and helps her communication to blossom as she requests more of certain activities.

Brielle was very blessed to recently get a supported trike with a parent handle finder by Whizz-Kidz and it’s fantastic!

If you live in the UK, I highly recommend applying to a charity for funding for a special trike, they are amazing but very expensive!

Brielle loves taking a ride to the playground now or to the nearby beach (instead of being in her wheelchair).

We park her trike by the rocks, and she strolls hand-held on the stony sand, and just loves to touch the water’s edge!

A spring fair recently visited nearby and Brielle loved going on some of the little rides.

She’s quite a thrill-seeker.

Swimming is also a favourite activity with her sisters, but quite a lot of effort and time, I find you really have to be in the mood!