A Dad’s View of 15Q – ( The first two years as a parent of child with a rare chromosome disorder IDIC15 / Dupl15 )

This is the article (A Dad’s View of 15Q  Ian Hill article) I had published in the newsletter for Unique http://www.rarechromo.org and is the starting point for my blogging journey. On the back of the responses and feedback I received from friends, acquaintances and strangers alike after they read it, I was encouraged to set up this page up.

The article relates to the journey from birth to two years old that we as a family have taken with our son Matthew, from the joy in the delivery suite to the realisation and devastation months later by the science of chromosomes and an unexpected diagnosis.

I have been told it is emotive, brutal, honest, upsetting yet uplifting and inspirational, to me it was a form of therapy that allowed me to recall, recount and accept the journey so far.

If you as the reader can relate to it and gain comfort or strength from it, either as a parent of a similarly diagnosed child or in totally unrelated circumstances then please feel free to leave a reply.

What’s in a Dream?

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Matthew’s Appeal

One of the big things to have come from  Matthew’s diagnosis of duplication 15q syndrome is the support network of friends from around the country who offer sage advice on the condition and life as parent with a child with additional needs or strength and encouragement when times are tough.

One such friend from within the group recently told us about a charity who she described as amazing and incredibly easy to deal with. Her daughter, like Matthew has a similar fearless character and knows no danger and like us had been through the same quandary as we were going through with regards sleeping arrangements.

The sleep situation at home had been sorted, a long and arduous battle with the local authority had seen our case acknowledged and approved for a specialist bed that would keep Matthew safe at night for years to come and allow us to relax and sleep soundly at night knowing this.

It was the time away from home where the sleep now became an issue, holidays abroad had become a near impossibility. The thought of putting Matthew to sleep in a bed in an unfamiliar environment where he could wander the room whilst we slept made the heart skip a beat. When we then considered the hard stone floors, a door to a balcony or one leading to a swimming pool and Matthew’s obsession with water made it an immediate no.

When we simplified things and considering time away from home at relatives, visiting Debbie’s parents for example in the Lake District, a regular trip away from home that we take for granted in the past such is its simplicity. However, Matthew was now too big for the travel cot we had been reliant on to keep him safe. This visit was now too at risk, a regular break which we looked forward to, yet with nowhere safe for Matthew to sleep made it increasingly difficult to consider going forward.

It was not just us and the kids it was valuable to, Matthew loves the stimulation and freedom the outdoors and nature the Lake District provides, the girls love spending time with the grandparents and they cherish the time with the kids and being able to spoil them as all grandparents do.

To see this valuable family time at risk of being taken away by something so simple as a bed was difficult to accept, yet it was hard to find a way around.

So, at a crossroads at something of a catch 22 situation, holidays were impossible as we did not have a bed, but the bed was impossible until we saved, which made a holiday impossible because we would need to finance a bed first. We could send the girls to the grandparents alone, but that denied Matthew and us of a break too and there are three grandchildren not two, each one equally important, so that was not an option either. It was one enormous, yet frustratingly simple barrier to our everyday life.

Around this time of contemplation, the friend from the support group mentioned a charity who at that time we unaware of, a charity called “Dreams Come True”.

Approaching a charity was something that we had never really considered, we believed that there was always someone more deserving out there, that we had no right to ask or call it pride that prevented us from asking for help, we simply preferred to just do it ourselves.

However, one day at a around the same time while attending a disability equipment expo in Manchester an exhibitor approached us to find out a little bit about Matthew and his needs. We discussed our reticence to ask for help where he stopped us mid flow and suggested that we took a step back and looked again, the help was not for us it was for Matthew.

Not only that, he explained how a panel would usually consider a case, that each case is thoroughly  assessed to ensure the help goes to those who need it, someone who was impartial and would look at the facts before them.

So, we applied to Dreams Come True, buoyed by the simplicity of the process, an online form to outline Matthew’s needs and “dream”, some supporting notes from our GP and a few other documents, we then waited with anticipation.

A short while later we received a letter back confirming they would be delighted to fulfil Matthew’s dream, we felt a sense of relief, excitement and gratitude. This barrier that stood in the way of our family routine was about to be broken. Such was the simplicity of Matthew’s dream we were asked to feature as part of a wider appeal, something which was rather alien to us at first, but something that was handled with professionalism and compassion.

Seeing the work that Dream Come True do and the difference they make to children who are affected by life changing circumstances, illness and disability was truly inspiring and I decided I would give some time back to them as a volunteer. Meeting the team since has strengthened this opinion of this fabulous organisation, and I am relishing getting involved in future projects.

Put simply, their philanthropic endeavours will change our lives and allow us to do the simple things we all take for granted. Simple things that without their help would quickly become impossible.

Dreams are typically regarded as fantasy, make believe, an escape from reality or something just beyond reach. When actually, sometimes they are in fact about wanting to achieve normality (whatever that is), to do the ordinary and just do the things you always did, Dreams Come True are helping us to achieve this and for that we are so very very thankful.

Reflecting on D day

Having recently read parts of my blog,  I was delighted when The Mighty asked if I could summarise my first ever blog entry but focus primarily on diagnosis day and picking up on a the phrase “Matthew has duplication 15q, but duplication 15q does not have him” which was the closing line of that piece.

Friday 18th July 2014, (diagnosis day!) a day which will forever be etched in my mind as one of crushing pain and sheer bewilderment. This was the day that we were told our son had a rare chromosome disorder – duplication 15q (IDIC15).  We had already been here just a few months before when we were told he had the rare form of epilepsy known as West Syndrome, yet here we were again, this time to find out the cause of the West Syndrome. In a way it was closure of one chapter and the beginning of another, which was altogether unwritten and unknown.

The day itself was incredibly hot, one of those rare days of glorious British summer we crave all year and yet it was largely spent indoors. The hours leading up to the appointment seemed to last for an eternity, most of it spent pacing nervously around the house in an attempt to kill time before we were due at the hospital just after lunch.

Arriving at the hospital, nerves were shredded in anticipation of what we were about to hear. In addition to the consultant and epilepsy nurse, there were two other medical professionals present that to this day I have no recollection of who they were or why they were there, I assume they had some relevance to proceedings. Matthew’s consultant and epilepsy nurse held a somber look on their faces which told a story, a look of compassion yet foreboding and almost apologetic, it made my stomach tie itself in knots as I braced myself for the news.

Much of what happened in the appointment is a blur, I have no idea how long we were in there, it seemed like an age but was probably no more than half an hour. It commenced with a few pleasantries before the news was broken about this thing called chromosome 15q, its importance, and how a duplication on it had caused Matthew’s epilepsy and developmental delay. We were presented with sheets of paper full of diagrams to try and explain it, a disorder guide found online by the consultant from the Unique website, a charity who were soon to become so vital to our fact finding, acceptance process and ongoing support.

Back in the room, a range of negative emotions of anger, fear, sadness, grief, self pity and more were running through my mind, I contained the anger but the sadness and grief came out in spades as the medical team attempted to console us both.

Right there at that point I felt like a broken man! Almost a year prior to that day, just yards from where I was I had celebrated Matthew’s birth. I had hopped, skipped and jumped down the corridor of the maternity ward and yet here I was days from his first birthday attempting to come to terms with one of those earth shattering things that just happens to other people, the contrast was stark and brutal.

In the days that followed I was an emotional wreck, I barely slept and I fell to pieces on a regular basis. I seemed to have no control over the tears  (because, yes, Dad’s do cry too) that would break out whenever my mind turned to Matthew, contemplating the future or what I had begun to read about duplication 15q syndrome (IDIC15).

I didn’t know it then, but even then, somewhere deep down inside hope had begun to grow, like a microscopic shred hidden away somewhere in my heart or soul. At the time it was invisible and supressed behind the grief and fear but I know now that it was there.

As the days from diagnosis grew to weeks, so too did that once invisible hope, and it began to grow day by day. In contacting other families via Unique, reality dawned and there was a change of mindset, rather than just seeing the negatives in the disorder guide and fearing the worst, there was a focus on the positives and the achievements other kids with IDIC15 had chalked up.

That mindset change was a vital part of acceptance, realising that the hopes of twelve months previous were no longer realistic and new hopes had to be made. It was, and still is a painful realisation that Matthew will probably require lifelong support and it is unlikely he will ever life a fully independent life, but with positivity gained from hope we could ensure he achieves all that he can.

Fast forward a couple of years, and the achievements he makes are celebrated like he has scored a last minute winner at Old Trafford for United!

Matthew is yet to speak his first word but he does the occasional babble, amazing stuff!

I feared he would never communicate with us, it isn’t conventional but we have come on leaps and bounds and he has started to attempt to use PECS

I feared he would never walk, he nailed it just a few months after his second birthday!

I feared he would be a kid without a smile, he has the cutest smile which lights up a room!

I feared we would never hear him laugh or giggle, his laugh is infectious.

I feared I would never have that father son bond, it is there, he demands my attention to play, to hug, cuddle and be that dad to him I always wanted to be and I cherish it!

I feared on diagnosis day and in that darkness that there was no hope, that this chromosome duplication had taken our boy away from us and that it would forever dictate his life. I was wrong!

This is a kid who has never spoken a word to us, yet he makes us laugh and smile every single day, that is some impact!

Two years ago as I took big steps in acceptance I wrote that “Matthew has duplication 15q, but duplication 15q does not have him” something we still stand by.

I am not naïve enough to think there will not be challenges ahead, IDIC15 is far too complex a syndrome for it to not influence his life, I know it will but we will not let it control it but by keeping hope alive we can achieve so much and it makes each battle that little bit easier.

Big Man With a Big Mouth.

David Haye, approximately 1.1million twitter followers, a world famous boxing champion and firmly in the public spotlight, a man who finds it acceptable to use a word which went out with the ark  in a pre-bout press conference by calling the baying crowd in Liverpool ” f***ing r****ds”.

That word itself is a vile word, a word that will stir a variety of emotions and anger at its use, especially when thrown about so freely, especially by someone so high profile and influential to his fans (all 1.1 million + of them) and its use is totally unacceptable.

It was disappointing that the use of the word was met with laughter and derision from the crowd as was the half hearted reporting and condemnation of it in the media. It shouldn’t be a funny word to use.

What would Haye and the media have had to say should Bellew or one of his entourage stood up and declared, “sit down you f****g <insert unacceptable racist insult here>” ? It would quite rightly have caused outrage. The word should be as unacceptable today as racist or homophobic language is, so why is it used so freely and without fear of retribution?

Yes it was heat of the moment, yes a lot of these boxing press conferences are stage managed and there for show, but as yet there seems there has been no apology from Haye as to the use of that word.

I guess he knows that he is a big, strong, brave man who can go toe to toe with any opponent in the ring and with an ego that says he will not back down.

But, if he wants to see genuine bravery and genuine strength, maybe he should stop a while and take a look at the individuals and affected families that he feels so comfortable in deriding to score cheap points over an opponent.

Real strength, David, comes from the family who having been told their child has a rare chromosome disorder or other disability dust themselves down to tackle it head on!

Real bravery, David, comes from the parents who as a result of their child’s condition spend weeks or maybe months in hospital and have to battle with complicated medical diagnosis where the doctors themselves are learning as they go.

Real strength, David, comes from the family who see their child suffer countless seizures every single day and even though there is often no answer they refuse to give up hope.

Read bravery, David, is the family who while out and about and minding their own business are met with stares, comments and ignorance like your own and yet are able to ignore it and turn the other cheek.

Real strength, David, is coming to terms with the reality that your child may not be able to achieve all the goals and dreams you had for them.

Strength and bravery, where you hear of children with the same disorder as your own passing away without a known cause and you hold them tight before they sleep, praying it never ever happens to your own.

He may well be a big, strong, brave man but his comments show the cowardly side of a man backed into a corner and retorting with the shameful use of a word which should not be used or deemed acceptable today.

 

 

 

Just like any other toddler….

matttable“Just like any other toddler”

A phrase that often crops up in conversation with others and we talk about Matthew, his progress and the behaviour he exhibits. I guess a lot of it is not knowing what to say, an awkward embarrassment or possibly an attempt at empathy as we explain his needs, his day to day, the strict routines we have become accustomed to and the evident behavioural and development differences he shows.

I get the sentiment, but we are over the delicate stage now and fully accept who he is, how he is and all that comes with it, it is not that we want to highlight those differences but we do accept them and all they entail. So there is no need to pretend that somehow he is just like yours were at that age, or are right now, we know he is different and we are immensely proud and love him just the same.

Yes, Matthew is a toddler and all toddlers have energy, a lack of fear and sometimes play up for the crowd as they know they will elicit a reaction from a parent and sometimes get their own way which has been justified by positive or negative reinforcement accordingly.

Having been through the toddler stage with our two daughters, I know how they pull strings and have a mind as sharp as a tack in order to get what they want, though with Matthew the playing field is much different and his actions seem to be based on instinct and that moment, and saying “No” doesn’t really work and is unlikely to get him to stop in his tracks as quite simply he doesn’t understand.

It is not a case of ill behaviour on his behalf and I hope it is not through failure on ours as parents, we know his mind is wired in his own unique way and that is what makes him so special and adorable.

We sometimes struggle to recall what it was like with the girls at the same age, our routine today is our norm, but looking back four years or so on Facebook serves as a reminder of just how different things truly are and seeing the activities the girls did at the same age and the milestones reached really enforces this difference from then to now.

At three, a “neuro-typical” child is well on the way to understanding the differences between right and wrong, the consequences and the dreaded naughty step. With Matthew he has a single mindedness that goes beyond this but a single mindedness of pure innocence, borne of curiosity and of impulsiveness that says that toy needs to be put down that toilet pan right now, or that bird bath full of water is more interesting than this toy, that can go in the pond! (both real life examples by the way)

He does not understand the consequences, once that trigger has been flicked it takes a quick mind and slight of hand to quickly divert his attention to something else much less dangerous, something that defiance aside could be avoided with the girls.

To say he is like any other toddler also does him a great injustice, this is a kid who cannot speak a word yet somehow manages to make his needs known, stop and think about that for a second. A toddler of three years old, a curious stage of life which is all about asking questions, finding answers and exploring yet unable to ask a single one. We do not know if he has questions to ask, we do not know exactly what his needs are at times but with guesswork and persistence we get there.

If he does have questions what are they and is he frustrated that despite all those noises he makes he can never utter those words that he hears from others all around him each day? There are times when you can see an expression of excitement etched on his face that he so wants to tell us something, mouth open ready, eyes wide with enthusiasm he will take us by the hand to show us but alas no words to explain.

He has just these past few weeks found his voice in a big way and has discovered the power of the screech. He wants it so he screeches, squeaks and squeals, a big moment for us and one for him too as he has discovered it works and that clapping his hands gets results too, we are working on him identifying a cow, pig and a sheep toy at the moment and it seems to have grabbed his attention, though this may be more down to him finding my amazing cow impression hilarious (it is pretty good).

Like many of Matthew’s “chromo brothers and sisters” he had to overcome incredible odds just to be here. They say a baby is a little miracle, so what does that make Matthew and his 15q peers? From conception and that duplication on 15q his path was set, yet he passed through those critical gestation periods carrying this duplication, defying those incredible odds and arrived in this world ready to fight and fight he did! From stopping breathing at four weeks old to seizures and high doses of medication with brutal side effects he has battled it all so far.

So no, no he isn’t like any other toddler, he (and all those other remarkable kids with a chromosome disorder) is so much more, he is a real little hero and one we are so immensely proud of.

 

Happy Birthday to This Kid…

 

Happy birthday to this kid!

This kid, who will wake up this birthday turning three years old, yet will be oblivious to the pile of presents and that await him. It is likely he will leave them untouched and wrapped, unaware of their significance and the significance of the day, yet we hold hope that maybe next year he will.

This kid, who despite his love of cake will not get to blow out his three lit candles, but we will do that for him with the pride and enthusiasm a cheeky three year old deserves.

This kid, who will not care for a party but we will give him a small and quiet one anyway just to mark the day.

This kid, who despite the odds and battles has stuck two fingers up at medical diagnosis and come back fighting.

This kid, a curly blonde whirlwind who frightens us half to death with his fearless antics.

This kid, an affectionate little monster whose love is without motive and so genuine.

This kid, who although he cannot speak a word can light up a room with laughter and find a way to make his needs known.

This kid, our pride and joy, our Matthew.

Happy birthday to this kid, to Matthew our special little prince.

IDIC15 Family Meet.

meetup

Meeting the wider IDIC15 family for the second time over the weekend was once again a brilliant day out and a fabulous opportunity to chat with families who have so much experience on this journey, it also gave the kids a fantastic facility to let loose and have fun.

No longer the “newbies” in the group, I noticed the same emotions of apprehension and also of hope when speaking with one other dad, who said he gained so much hope from our experience so far and seeing Matthew charging around with his curly blonde locks bouncing all around gave him a sense of positivity for the future and testament to how important these days are.

A day that would not have happened had it not been for Unique and their support and most definitely not but for the incredible efforts and enthusiasm of Emma who co-ordinated and arranged the day with such detail, so on behalf of my family and no doubt all others who attended a big thank you to Emma, a truly remarkable mum and a real inspiration.

We are already looking forward to the next event and catching up with people who I hope will become lifelong friends.

 

Holiday Blues

 

So, as I type this I have recently returned from a fantastic week away in Majorca with a fading tan and a lot of bug bites and some brilliant memories of a sun drenched break with the family.

It was the second holiday abroad we have been fortunate enough to take Matthew away on, and realising that with his complex needs it may not be so simple as he grows up and is no longer just that energetic toddler as he is at the moment, but that part is for the future, so we cannot worry about that just yet.

For me the holiday was a fabulous experience, allowing me to spend quality time with my kids, allowing them all to experience new things and have a degree of freedom not afforded to them at home. It was a joy to watch the girls improve in confidence and ability at swimming, for them to try a variety of foods they would not normally touch at home and for Matthew to run us ragged with his boundless energy and dive fearlessly, head first into the pool over and over again (I was there to catch him).

As expected there were sideways glances and hushed whispers from other families, as they saw Matthew gain sensory comfort from his need to head butt us (usually gently), be it in the hotel restaurant, by the pool, in the bar, wherever. The unusual surroundings affected him quite profoundly at times, and considering the noise and bustle of a holiday resort in peak season he coped remarkably well.

It was also the first time in a while where I had been exposed to a greater extent to the wider world and children of a similar age to Matthew and seeing  this the reality hit home. I know and accept Matthew’s differences and love him just as he is, but when those timely reminders arise it is hard not to look on, even if it is just briefly without a little tinge of sadness, though definitely not bitterness.

One afternoon I was out on my daily stroll around the streets of C’an Picafort with Matthew in an attempt to put him to sleep for an hour or so  I noticed a father and son playing football on the pitches at the back of the hotel. The little lad all togged out in a Barcelona kit and of similar age to Matthew was charging up and down the pitch with boundless energy, cheering loudly when he scored a goal. I would be lying if I didn’t say I had to swallow hard at that point, something I just expected I would do with him at this age added to a list of maybe one day.

Back by the pool, children far younger than Matthew toddled around with freedom and confidence both in and at the side of the pool, we constantly hand held through fear he would trip, fall and hurt himself. Parents looked on inquisitively as Matthew shrieked with delight jumping as I pulled him through the water with an evident curiosity as to why he did not speak.

At the airport on the way home, the queue for check in was long and likely to be a good hour wait, speaking with an airline rep I asked if the pre-arranged special arrangements for priority check in etc. could be used and we were immediately ushered to the front of the queue. The gasps of disgust from those nearby were almost audible above the hustle and bustle of airport noise and the judgemental looks and face pulling was all too evident, priority being Matthew at this stage I smiled and did my best to ignore it and took it as a lesson in the world we now embrace.

So reflecting on what was a fabulous week away although I was greeted at times by people who stared, reminders that made me want shed a tear, though these things just make me stronger.

The week gave me a chance to bond with the kids and a reminder that Matthew, despite all his challenges, this amazing little chap is so determined, so funny, has a character that is adorable and can make even the brightest day on the Med even brighter. His sisters, despite their sibling squabbles are his guardian angels and Debs is just incredible for doing all she does day in day out while I am at work and still come out smiling when I get home.