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.

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Rare Chromosome Awareness Week – Unique – Light in the darkness

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……… Confused?
We were, and no doubt most other families were when presented with a sheet of paper bearing a string of numbers and a diagnosis at their appointment.
The thing is, the sheet of paper is often given with little explanation other than ”It is a rare chromosome disorder” and “Unfortunately we don’t know much about it” and “Let’s wait and see how things go”.
But at that point in time, in that chaos and darkness, you don’t want to wait and see, you want answers, or at least the facility to obtain them. To be told by the very people who are experts that they don’t have the answers is soul-destroying, but such is the complexity of rare chromosome disorders that often the doctor has never heard of the condition before, let alone diagnosed and treated a child with it.
So, at that point you are sent away with a sheet full of confusing numbers, a million questions, some that you don’t want to know the answers to and a sense of confusion. An appointment with a geneticist usually follows some time later, although, by then most parents know as much about the condition as the geneticist does, and the appointment often seems like a frustrating waste of time that largely confirms what you already knew.
The reason why parents often know as much as the geneticist about the condition? A small group of hardworking specialists, dedicated to raising awareness and bringing families together to share information and knowledge. The team at Unique.

Luckily for us, our consultant had done some research and she handed us as much information as she had found, information courtesy of the hard work of Unique.
In the weeks that followed the line of letters and numbers above were explained by the team, clarity was given to what they meant, support when needed and the opportunity to contact other families with similarly diagnosed children provided.

In the early days, we didn’t want to glimpse the future, the information and disorder guide from Unique read, the Facebook group joined but viewed from a distance, meeting other families was a step too far.
Fortunately, the fear factor ebbed away as acceptance grew, and the support network provided by Unique came to the fore. We met other families, conversations followed and friendships grew.
Now, being thrown together by virtue of a shared chromosome disorder carried by your child is going to provide something of a melting pot of individuals, but thanks to Unique, as a family, we now have a group of friends who we meet with on a regular basis both locally and nationally.
Not only have we made some amazing friends, but we also now have access to a group of experts in all things 15q, knowledge gained over the years on the peculiarities and complexities of duplication 15q syndrome that is shared at will.

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Advice and support in tackling non-medical issues such as disability rights, “the dreaded brown envelope” (for those not familiar with this, the brown envelope is when you are “invited” to apply or re-apply to highlight every minute detail of your child’s disability in the hope they may be eligible for support via DLA, a truly soul destroying process) or just a pick me up from another sleep deprived parent who understands when one of the group has had a day from hell and needs to vent.
Without the group and the friends we have made, I imagine there would be a real loneliness, left to our own judgement on the day-to-day, second guessing every behaviour, maybe foolishly accepting the word of the authorities and experts at will, not seeing the successes and achievements both within the 15q community and the wider Unique group that raise spirits and make you appreciate the little things.
All of that is only possible for one reason, and that is thanks to Unique. Through their hard work in connecting families, providing much-needed information, and, that on one week each year putting a greater emphasis into spreading the word through “Rare Chromosome Awareness Week”.
A week, where the profile is raised, lots of noise made to spread the word about these rare conditions and to interact with families who for whatever reason go without that help and support.
Breaking down barriers both for families where this is the day-to-day, but also in educating those who have never encountered a rare chromosome disorder and showing despite their rarity how common, in one form or other, they actually are.
So, on Rare Chromosome Awareness Week, thank you Unique, for being that light in the darkness back on diagnosis day, the ongoing support, opening door and creating new and hopefully lifelong friendships.

Father’s Day

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Father’s day, time to appreciate the guidance and support over the years from the old man, maybe share a beer, send a card gift etc. Get hugs from the kids, receive cards, and hope that they appreciate and value the guidance and support that we as dads provide to them.

The hugs and appreciation will no doubt be present from the girls, before they go back to the ever present sibling rivalry and day to day squabbling. Matthew, meanwhile will be oblivious. He will be free in giving kisses on demand before heading back to the Ipad to play on one of his favourite apps, there will be no words, but I live in hope that one day I will hear him call me daddy.

The kisses on demand is one of the small but significant things that we have been able to teach Matthew in recent months, add to that, an emerging use of Makaton, we have had recent vague attempts at cake, please and thankyou, it all adds up to proud parent time, because everyone needs to be able to ask for cake!

It may not be teaching him to ride a bike, but, we have a specialist trike for him that is cool as ****, that turns heads and I get to wheel him around the streets on it.

The football thing still gets me at times, but I am still crap at it, so by now he would probably have be nutmegging me and showing me up on the park, so for my benefit that’s probably for the best.

I did overhear a conversation not so long ago, a couple of dads discussing their kids, how tiresome it was heading out each weekend to take them to their football games, as the other replied with a gripe about how he had to play cops and robbers again for the umpteenth time this week. I smiled to myself, thinking how amazing it would be to enjoy those privileges with Matthew.

That is not to say that the father son moments do not exist, we just go about them in a far different way. Focused around sensory activity, many of which keep me fit and negate the need for the gym that day, that curly Wicks chap should get inclusive and stick some sensory stimulation of a little kid in his HIIT programs! Letting him sit on my shoulders as he plays on the Ipad, even if his nappy is beginning to pong, allowing him to lead me by the hand to show me what it is that has got him so excited, tuned in to his needs in a non-verbal way that makes me understand his needs in a way I never knew was possible.

Aside from Matthew, I have two amazing daughters who although very different are very similar when it comes to Matthew and make me burst with pride. They are a shining example of how you treat someone with a disability, watch them a while and you will understand. I hope that maybe a little bit of that is down to my input. They go above and beyond in caring for him, helping us as parents with him and you can see that the sibling rivalry you would expect at that age is replaced with an unwavering sibling devotion.

Sadly, you see and hear of some men and I use that term loosely, I won’t refer to them as fathers, who decide to walk away and abandon their child simply because of their disability. I won’t dwell on these people too much. The sad thing about these chaps is that they are missing out on so much and despite what genetics say, they cannot call father’s day their own.

To the rest of the dads out there, especially the IDIC15 dad and all those others with kids with a disability, keep on keeping strong, keep on keeping on (no apologies for the theft of song lyrics there either).

Changing Places and the Need for Change….

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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.)

Article

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.

http://www.changing-places.org

 

 

Infantile Spasms Awareness Week 1st – 7th December.

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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

http://www.childneurologyfoundation.org/programs/infantilespasms/

 

 

School Daze

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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

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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?

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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.