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.


Changing Places and the Need for Change….


In recent weeks there has been quite some noise and ever increasing momentum on social media, through newspapers and on television about the campaign to raise awareness of Changing Places toilets and the lack of availability of them in major retail chains and on motorway services. Bloggers, motivated parents and more have taken on the challenge, with one inspirational mum taking a “toilet selfie” each day through advent to raise awareness.

For those who have not seen the campaign, to summarise, it focuses around the installation of  adapted toilet facilities which incorporate an adult sized changing bed, a hoist and enough space in the room to accommodate both wheel chair and carers. Most existing toilet facilities are either unsafe for a child or adult, such as a baby change unit, too small like many disabled toilets or just plain dirty,  as a result the only option is often to change on the floor which is not something that appeals to anyone.

The campaign (rather oddly) seems to have somewhat polarised opinion to date and in a little over a week of going live, the petition focusing on the major supermarkets installing a Changing Places toilet has garnered nearly 80,000 supporters. Each day it continues to gain support of celebrities and media outlets, however, the ones who count (the supermarkets) continue to ignore all the noise.

On the flip side of the momentum and positivity, there are those who simply do not get it and seem to have missed the point of the whole campaign.

Now I know that the comments section of the Daily Mail is hardly the finest example of tolerance and understanding but it is the first article I happened upon and here are a few examples of the “best” or most green arrowed comments on a recent article which focused on John Lewis / Waitrose.  (The link to article is below.)


Does this lady think that every retailer should have change facilities for disabled people? I’m sorry but where does this stop, it is impossible to cater for everyone’s needs. And to shame them on social media, it seems people are just out to cause trouble rather than politely contact the store in question to raise concerns.”

The campaign is not for every retailer to do so, it would be impractical for every high street store and village shop to offer one. It is about raising awareness and focuses on the ones who can afford it and have the space to accommodate it, the ones where as a shopper you could be spending a considerable amount of time (and money) and a toilet break could be necessary.

“Why single out John Lewis? I can’t think of one retailer which provides these kind of facilities. you can’t expect every retailer to provide toilet / changing facilities for people suffering from every single type of disability.”

Therein lies the problem, that this person cannot think of a single retailer that offers such facilities, so therefore by their logic they are not needed. I will name one for them though, IKEA, they committed to install in all stores without any sort of fight after they were contacted and asked if it would be possible.

Away from the negativity, there were examples of support for the campaign but they were generally given low ratings of approval through red arrows by readers, the lack of compassion was a little mind boggling. This is a campaign that focuses on improving the lives of disabled people and their families, yet some feel the need to belittle and criticise it.

While some of the other comments included in the section do offer balanced views, there are many which were quite simply vitriolic, full of spite and sadly appear to have been written through pure ignorance.

Personally, we are at the stage with Matthew now where the baby change unit creaks under his weight, the gap between the sink and wall grows ever smaller with each visit. Being something of a no germ freak who will do “the wet hand dash” and run to catch an open toilet door with my foot so I do not need to touch it, the idea of kneeling on a toilet floor makes me bilious and fearful.

So, if we were to visit one of the said disinterested department stores and Matthew decided to fill his nappy, with the abject lack of facilities what would they suggest we do?

Number 1? Leave him in it? I am sure they would love an interesting, full bodied, well defined and earthy addition to the balance of fragrances in the perfume department. Though joking aside,  being left in your own mess, it’s not really funny is it!

Number 2? Maybe, we use our big changing mat from home and perform a change on one of their beautifully laid out bedspreads in the home department? Now, if he is on a Movicol day (parents who know, then you know) then phew, that is going to cause one hell of an offence and really upset some shoppers, I doubt Margaret or Keith on the customer service desk would like to dispose of the bag of joy either. We would rather maintain some modesty and decorum, so as much of a statement doing this would make, we will resist.

Number 3? Use their existing inadequate facilities and hope the baby change unit doesn’t break or kneel in wee, smack head against a urinal or other porcelain object. With my germ phobia, this is not really working either and neither do I want to walk around sporting l’eau de-piss and two wet knees.

Number 4? Take our custom elsewhere in shopping centres where facilities exist, or maybe, just maybe, the retail sector who claim to care so much actually listen to those who make their tills chime and take a little positive action over profit. Sounds like a winner to me!

If you would like to find out more about the changing places facilities or discover more about the campaign, please visit the website below.




Infantile Spasms Awareness Week 1st – 7th December.


Infantile spasms! It sounds like something quite gentle, innocuous and all rather insignificant. That was my initial thought when I first read the name of this condition when I Googled Matthew’s symptoms back when he was about eight months old.

Then I began to read, as I read I began to realise that the name was somewhat at odds with the reality, if ever there was a condition that didn’t match its name then this was it.

Infantile spasms, or West Syndrome as it is also known is a rare, and particularly destructive form of epilepsy. It usually presents in young children from around seven months old and shows as a cluster of often tiny movements where the arms, legs and head will push slightly forward, between the movements there is little to suggest what is going on. It is often missed and mistaken for something far less serious so discreet are the symptoms, however for the lack of visible signs it is critical it is identified and treated as urgently as possible.

Our consultant from the hospital used the analogy with Matthew that with each episode it was like the factory reset button being pressed on a computer, his development wiped, hence why it was so important to treat, successfully and quickly.

That there is now an infantile spasms awareness week annually (1st – 7th December) that brings this condition to the fore is so important and gives families a head start in recognising and having the confidence to approach their medical professionals in demanding testing through an EEG and ultimately treatment.

Reality is that it is unlikely that you will encounter a child with infantile spasms such is the rarity, although the statistics landed with us, so it is not impossible so it is best to be aware.

The link below contains more information on infantile spams and videos which show examples of the clusters of seizures, for me, watching them brings back painful memories of seeing Matthew go through the same, the videos of him we took to show doctors I cannot bring myself to watch even now.   #ISAW2017





School Daze



The first week of September that falls before your child turns five, a significant moment in their young life and a week when Facebook and other social media is filled with the ubiquitous child by door in ill-fitting school uniform photos.

Packing them off on their first day, awaiting them coming home full of excitement, bright eyed with enthusiasm and eager to tell you about what they have done, the friends they have made, the busy day they have had and how they are a big kid now.

The knowledge that the enthusiasm will probably be short lived, after a few days of term, asking what they did at school today will be greeted with a shrug and a response of “nothing much” or “boring work”.

This September will be a little different!

As we drop Matthew off for his first day at school, no doubt he will be smartly presented in his fresh new uniform (it is far too big), tears and apprehension from us as we watch him head off to join his new class.

It will be a bitter sweet day, pride as we see Matthew potter down the corridor to begin his journey of education, yet tinged with sadness that he isn’t attending the same school and route as his sisters, another one of those little dreams taken away.

Sadness, that when he comes home from school he will not be able to tell us about his first day, what he got up to, nor, if he followed in his older sisters footsteps recall how he forgot to eat his lunch because he was too busy talking to friends at the dinner table.

Fear, that if he didn’t enjoy his day we will be unaware, that we need to rely on the communication from the school to hear of his progress, his achievements and the things that have upset him.

Reality that he will not come bounding out of the gates showing us the first of many hundred masterpieces of artwork he has created for the freezer door.

The biggest fear of all! That the dreaded seizures should return during a school day and one of us not be there to hold his hand, to cradle and comfort him.

In part, similar fears for welfare that we had with the girls, but magnified many times over, yet relief and gratitude that we are fortunate enough to have such excellent special education facilities almost within walking distance of home, tinged with sadness that he is there at all.

A school which offers on site medical staff  and expertise, meaning no stressful trips to hospital for routine appointments, a hydrotherapy pool for his physical development, specialist equipment to aid him, sensory rooms and play areas for stimulation, all specifically adapted and relevant to his needs giving him the very best possible start, routine and continuity right through until he turns eighteen.

That his path has led him in a different direction and one that was not planned and not one we would have chosen does hurt, yet one where we know he will be given the best chance to flourish with incredibly passionate, skilled and caring teaching staff helps make it that little bit easier and hopefully make the school daze pass quickly.



Running for Dreams



As part of the fundraising for Matthew’s dream and as my role as a volunteer with the charity it felt only right that I should get as involved as possible to both raise funds and the profile of Dreams Come True, so the local 10k which is held annually seemed like the perfect opportunity.

The Birchwood 10K is an event which despite its locality has so far eluded me, partly through lack of motivation and that it always coincides with the weekend of nearest to my wedding anniversary meant that it was often put on the backburner.

This year, rather than delaying until too late, I signed up in plenty of time to get to the reasonable level of fitness that would allow me to run the distance non-stop in a respectable if not emphatic time.

Having completed the Manchester 10K a number of times previously, I knew my targets and had a rough training plan to prepare that would take in part of the course route itself.

The event itself was quite different to the Manchester 10K, arriving at the start point I noticed a far greater proportion of club runners sporting their colours and far less of the plodders (like myself) doing it for charity, so I took up a position out of the way and towards the back of the crowd a little way behind the hour pacemaker runner.

The course was relatively flat, bar a few motorway bridges which sapped energy a little in the final few KM and unlike the larger event in Manchester spectators are largely limited to those walking the dog to collect Sunday papers as it winds through the suburbs and the country lanes on the outskirts of Warrington, I was able to grab a welcome drink from my kids at about 8KM to rehydrate a little on the final stretch.

Approaching the finish line the crowds offering encouragement grew and I pushed on to finish in 1 hr 3min and 25 seconds and although I didn’t break the hour mark that I wanted, I was satisfied with what I consider a respectable time for a bloke with tiny legs and a stride not conducive to running more than a few hundred metres at a time.

Greeted at the end by Debbie and the kids, I made myself a promise to keep it going and continue with the running, though I have said that before so let’s see if I keep it this time!



What’s in a Dream?


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.