A busy week of doctor appointments over

Well last week was a busy week for us all. Two hospital consultant appointments for Uisneach coupled with a trip to his GP and all to be fitted in between his Mam and Dads work schedules.

The unplanned GP visit was necessitated because of a head cold Uisneach developed during the week which we didn't want turning in to a chest infection. The poor little fella was miserable. Extremely runny nose – off his food – very quiet and running a bit of a temperature. But he tries so hard to be in good form. He wants to play with his toys. He wants to eat his food. He wants to be happy. He just can't.

Thankfully it only lasted a couple of days and he's mostly over it now. It peaked on Thursday evening when his stomach decided to part company with everything that he'd managed to consume during the day. His Dad was holding him at the time and there was no escape. Both were covered with the contents. His Pjs and vest and his Dad's t-shirt and jeans - even inside his pockets! At least the shower to get clean lifted Uisneach's spirits. He loves the water. Apparently it doesn't matter how poorly he feels.

The planned hospital appointments were another matter. His Man and Dad were still feeling a little apprehensive about attending these appointments although the nature of them had changed since they were first scheduled.

They were arranged when we were still investigating the cause of Uisneach's delayed development. So even though we now had the 1p36 diagnosis we decided to keep the appointments with the Gastroenterologist and the Optimologist in the hope of ensuring that there weren't secondary issues that were going to cause Uisneach further health problems or that needed to be addressed.

On Tuesday morning we met with the gastro doctor. He reviewed Uisneach's notes and gave him a quick check up. He was satisfied that, although Uisneach was small, he was processing the nutrition he needed and that he had plenty of body fat. He said he didn't see for himself, or hear anything we had said, to indicate that Uisneach was having any problems beyond what would be the case with any child. It was a relief to hear. He said he didn't see a need to schedule any further appointments and that they would just keep Uisneach on file and offered his availability in the future if we felt there was a need for further consultations.

On Friday it was in with the Optimologist to check out a small flicker Uisneach has every now and again in his right eye. We'd read the condition, nystagmus, is often linked with cases of 1p36. Once again the consultant was very reassuring. He checked out Uisneach's eyes and saw nothing out of the ordinary – the structure at the back of the eye was fine – his response to light and movement were as they should be. He did however notice that the left eye was stronger than the right eye and he suggested that we start some treatment to address that as soon as possible. So Uisneach was given a prescription for glasses to address the imbalance and prevent a lazy eye from developing. His Mam is concerned that they'll take away from his good looks!

Dún Laoghaire pier Summer 2009

We finished what was a busy but relatively positive week with a walk on the pier in our home town, Dún Laoghaire. We brought Uisneach out on his little ride-on car. You forget how small he is until you see him out on his little car in the big world.

Enough about the condition – who is Uisneach?

Uisneach was born in August 2009. He arrived more than two weeks after his due date just after 9am on the morning of the 20^th. He weighed just 6 lbs. He was the first grandchild on his Mams side and the first grandson on his Dads (with two older girl cousins already living in California with his Dads sister). He has since been joined by a girl cousin, born three weeks after him, to his Mams brother and a boy cousin born eight months after him to his Mams sister. A mini baby boom – and that's before we mention the birth of four second cousins all in the same year! Family gatherings have just gotten so much bigger.

He is surrounded by family. Grandparents from both sides of the family live within five minutes walk of his home and a number of aunties and uncles live not too far away either and regularly call to see him. He loves his grannies – he loves them all – but especially his grannies. They make him happy. They make him laugh.

Lots of things make him laugh actually. He has a great sense of humour and loves to involve himself in the joke – even if, as we presume, he doesn't understand it. Having said that he has an uncanny ability to laugh at just the right moment when somebody is telling a funny story. Whether it's the inclination in a persons voice – the tone – whatever – he knows when its time to join in the laughter just as the punch-line is delivered.

He likes to laugh at other things as well. Last night it was the sound of prawn cracker being crunched in his Dads mouth. That was hilarious! And had to be repeated again and again till his belly hurt from the laughter. Other times it will be an ad on the telly. In particular he finds ads for mobile phones and cable TV very funny. We think it's because he recognises the items in them. Mobile phones are one of his favourite play things. And the TV – well what could be crazier than watching TV and another TV appears on the screen. That's just the funniest thing ever. You can almost hear him say as he turns to you, “Did you see that Mam, did you see that Dad, a TV on a TV!” Apparently it's great gas altogether - for a 19 month old anyway.

And then of course he laughs at the inappropriate as well. You can feel yourself shifting a little uncomfortable in your seat when, while he's watching a particular ad, he turns to you with a little mischievous grin and then bursts out laughing. The ad is for a charity working with malnourished children in Africa! We know, it's not remotely funny.

Uisneach has never liked being on his belly. This is a bit of a draw back when it comes to the old learning to crawl. In fact his ability to flip himself from his belly on to his back from a very early age was often commented on as being quite advanced for his age. But that's where the progress ended. He was as happy as larry once he was on his back and would be quite happy to lie there for hours on end if he was allowed. When he'd go to bed at night he would be in the exact same position the following morning. Wouldn't have budged an inch. Hence the head being flat at the back.

But Uisneach's lack of mobility, mainly caused by hypotonia associated with the syndrome, really cramps his style now and he doesn't like it one bit. Not enough however to motivate him to move too much either. He wants to touch and feel everything that he sees and he needs some means of getting there or of getting the object to him. That's where we come in and he can be demanding when he wants. When he's lifted up in the morning from his bed it's a quick tug on the curtains, on the way out his bedroom door he needs to touch the letters spelling his name, the light switch in the hallway is next, the front door at the bottom of the stairs, a picture of the ocean on our right as we make our way to the kitchen, the blinds on the back door – all accompanied by that sound he makes while gesturing to objects he wants – uuh, uuh, uuh!

He doesn't have many words to communicate with – it's more sounds and gestures – making it difficult at times to understand what he wants. Frustrating for him as well as he clearly knows what he wants to communicate but just can't. Words that he is using at the moment are “Up” and “Ta Ta”. “Up” refers to both “up” and “out”. “Ta Ta” (which he pronounces “aDaa Daa”) is for “thank you” but is only used for some objects that he might receive. His main form of communication is mostly “uuh, uuh, uuh” and a gesture towards objects he wants. And once you've acknowledged the object of his desire, whether you decide to give it to him or not, he's usually happy. He's communicated.

Uisneach is a very sociable and affectionate little boy. He loves company. Nothing better than cuddling up beside you on the sofa to page back and forth through a book. We thought he had a particularly unique way of displaying his affection. When asked for a kiss or a hug he would tilt the top of his head towards you and allow you to kiss it or give him a hug. So it was interesting when we read in another blog about a child with 1p36 that they had the exact same experience. Begs the question is it nature or nurture that has the greater influence on how we behave.

We say this because another one of Uisneach's favourite things is water. He's been a demon for it from an early age. Where other parents couldn't get their children to touch the stuff he would drink loads of the stuff and would get extremely excited at the prospect of getting some. This is also something that other 1p36 parents had noticed.

And then we come to wind. Now we're not talking about farting – although he is starting to find that mildly amusing at the moment. No, we're talking about the wind blowing outside. If Uisneach had a top ten list of favourite things – wind blowing in his face would be his number 1. The excitement for him is almost unbearable – hysterical laughter, arms flapping, gasping for breadth – he absolutely loves it.

Both of these things – the wind and the water – we noticed were also commented on by other parents of children with 1p36. So again, nature or nurture??

Well, we'll sign off for now – a busy week ahead with hospital appointments. The gastroenterologist tomorrow and the optimologist later in the week and work in between.

Coming to terms with diagnosis

The sense of sadness and loss of what could have been soon gets pushed to the side as you have to deal with the practicalities of where you are now.

Uisneach hasn't changed.  He's still the same lovely and loving little fella he was before the diagnosis.  He still has the same personality.  He still likes to laugh and play his little jokes.  He still has this great sense of wonder about him.  Wants to touch and feel everything.  He still loves playing with Dads guitar.  He still loves going swimming.  He still wants to do as much for himself as he can.  He wants to hold the cup while drinking.  He wants to feed himself at meal times.  And he is progressing in his development the whole time - even if only in tiny steps at a time.

You start to realise that the sense of loss and sadness that you felt or still do feel is more about you than him.  You are grieving something that was yours - not his.  It was your planned future for him.  He, on the other hand, is living the only life that he knows.  And at the moment he is happy.  So in that sense we should be happy also.

As parents our role is to try and ensure that Uisneach reaches his full potential in life.  And we know that we can rely on our wider family for support in that.  We now need to be his greatest advocates to ensure that he gets the services that he needs and deserves.

Uisneach's support needs cover a range of areas - physiotherapy, occupational therapy and speech and language therapy.  He still has to learn how to crawl and walk.  He needs work with his fine motor skills.  He needs help in learning how to communicate more effectively - through both speech and sign language.

Thankfully all of these issues are being addressed by the multi-disciplinary team at Enable Ireland.  And it is great to see that even in the relatively short time that we have been attending he has made considerable progress already.

It's going to be long and difficult journey.  There will be many ups and downs along the way.  But we are hopeful that the difficulties faced in the months and years ahead are not going to be insurmountable.

The dreaded news

As a parent, you can't help it, but you find yourself living and planning your child's life for them from a very early stage – in fact if truth be known you start it before they are born. You imagine all the things that you'll get up to with them. You start thinking back on your life as a child and the games and fun that you had then and you start planning that for your child. You start thinking about the friends they might make. You start to think about schooling – in our case we wanted to make sure that Uisneach was educated through the Irish language rather than English. You start projecting a life for them. It's crazy but you even find yourself thinking about their adult lives yet they might only be a couple of months old. You want the best for them. You want them to be happy. You want them to be able to lead a fulfilled and independent life. It's only natural.

In February 2011 we were due another appointment with the neurologist. Blood tests were going to be back and the results of the genetic analysis were due also. Uisneach's Mam sensed something was up when the neurologist's secretary rang to make sure we were going to be able to attend the appointment. They hadn't done that before.

We arrived as normal. Registered at the desk. Got Uisneach measured and weighed. And waited our turn to see the doctors. There were three or four children before us so the wait was a bit longer than usual. Uisneach was in good form. Playing on a little plastic rocking horse for a while, ripping signs off the walls and trying to eat his books and anything else that came close to his mouth – stripy sleeves are a particular favourite – and which he finds hilarious!

Then we were called in to the office. Uisneach also seemed to get a sense that something was not right because he started acting up as soon as we sat down. We had been trying to get him off his 'dummy' for the previous couple of weeks on the advice of his speech and language therapist at Enable Ireland. Today though we needed to be able to talk to the doctor and hear what was being said without interruption so the 'dummy' was duly stuffed in his mouth.

The registrar working with the neurologist was going to run through the results with us. Effectively we were read the letter that the geneticists had sent to our neurologist. It basically said that on analysis they found that Uisneach had 1p36 micro-deletion syndrome and suggested that this was most likely the cause of his problems to date. It listed off other numbers, indicating where the deletion happened, but they were as meaningless to us as was the fact that he had 'micro-deletion syndrome' in the first place. However, we both knew it was serious – the tone and manner in which it was delivered to us left us in no doubt. But what was it? Was it life threatening? Was it debilitating? Was it intellectual? Was it physical? What about our plans for Uisneach's life?

The neurologist had joined the registrar by now. They didn't have the answers although they were fairly certain it wasn't life threatening and the pointed out that the geneticists had said it was a variable condition – we suppose hinting that it could be mild. They had never heard of the syndrome before and couldn't give us any clues to what it meant for us and Uisneach. So what do we do? We'd have to see a genetic counsellor and we'd have to get tested ourselves. Ok, when can we see them and when can be get the tests done? Tests can be done immediately in the hospital. The genetics lab was contacted to see if a meeting could be arranged. Not for months – possibly 12 months. What? You tell us our son has 1p36 micro-deletion syndrome but we can't get talking to anybody about it for 12 months! There was nothing they could do. They didn't have any information on the condition. The genetics people would have to talk to us!

We sat there for a while trying to take in the enormity of what had been said to us – without actually knowing what it meant. It was a strange and heart-aching feeling – especially with the little guy sitting on our laps, oblivious to it all.

It seemed that we had been looking for a diagnosis for so long and now that we had it we wanted it to go away.

The only light-relief on an otherwise bleak day was being able to laugh at the fact that Uisneach's Dad almost passed out while giving blood for the genetic test. As Uisneach's Mamó (grandmother) took him home it was into the office for the both of us for an unproductive days work. A day spent re-evaluating Uisneach's future and mourning the plans we each had for him.

Our first visit to the neurologist

Uisneach was about ten months old when we got to see the consultant neurologist at Our Lady's Hospital for Sick Children in Crumlin, Dublin. When we first sought the consultation it was in relation to the shape of his head – the flatness of at the back. However, by now we were far more concerned about his developmental delay than the cosmetic look of his head. The developmental delay became the primary cause for concern. An X-ray of Uisneach's head had previously been taken, a routine examination was now conducted and bloods were taken for analysis.

The neurologist was not too concerned about the shape of the head saying it was a common enough problem with children being encouraged to sleep on their backs and that there was plenty of time for it to right itself. However, over the course of a few visits, stretched out over months, he did take on board the reports from our local pediatrician and Uisneach's physiotherapist in relation to his lack of ability to put on weight and his failure to reach his developmental milestones and his poor motor skills.

They began looking for metabolic causes. A sweat test was conducted to see if he had cystic fibrosis. This was a particularly nervous time for us as we knew from a health campaign that was underway at that time that cystic fibrosis was a life shortening illness and that Ireland at the time was poorly served in relation to facilities for treating people with the disease.  Much to our relief it was confirmed within 24 hours that he didn't have cystic fibrosis. Referrals were also made to a gastroenterologist to see if there were problems there that could be a cause of his poor weight gain and to an optimologist for a slight 'flicker' he had in his right eye. The hospital dietitian was also brought in to the loop. Uisneach was put on a high calorie diet to see if that could help with his weight gain while the other tests were underway. An MRI scan was also ordered. Finally they arranged for genetic testing to see if the cause lay there. It would take a couple of months to hear back on the results of the genetic tests.

In the meantime our physiotherapist had suggested to the neurologist that Uisneach, regardless of what they found clinically, needed more intensive therapy across a number of areas. On her suggestion the neurologist referred Uisneach to Enable Ireland for a multidisciplinary assessment and service.

Thankfully this aspect of his treatment happened fairly rapidly. We were accepted at Enable Ireland almost immediately and Uisneach's assessment started within weeks - just before Christmas 2010.

Facing the prospect that Uisneach could have a disability

Things were going great. Little Uisneach would allow us a full nights sleep from an early age – with only the odd interruption due to his very loud snoring. He would go to bed at 7pm and wouldn't budge again until 7am. He was bright and responsive during the day and in particular he would love his bath-time in the evening.

Apart from a recurring eye infection in the first couple of months, while his tear ducts were forming, and a chest infection which required a doctors visit he was generally in good health.

However, it was during one of his routine visits to the local health centre when concerns were first raised about his development. On the chart for growth it was noted that Uisneach was coming in under the last percentile across all the areas – weight, height etc. It was decided that further monitoring was needed and we were brought back for weekly weight-in's. It quickly became evident that Uisneach stopped putting on weight although he was consuming the right amount of food for a child his age.

Around the same time we had been given referral letter from our GP to attend a consultant neurologist in the National Children's Hospital in Crumlin because of concerns we had about the shape of Uisneach's head. His head was quite flat at the back.

Back in the local health centre we met with the pediatrician during his eight-month developmental check-up. Along with noting his failure to put on any significant weight she also expressed concern that Uisneach hadn't reached the developmental milestones he should have – i.e. sitting up unaided, moving about on the ground - and recommended that we attend a physiotherapist.

Meanwhile we received confirmation of an appointment date with the consultant neurologist in Crumlin Childrens Hospital for a couple of months down the line. At least we were in the system.

The physiotherapist completed a number of sessions with Uisneach and came to the conclusion that there was more to his condition than just a delay in reaching development milestones. This was the first indication we got that we were dealing with something more serious. It was the first time that we were faced with the prospect that Uisneach could have a disability – just a couple of weeks out from his first birthday.

It was hard to comprehend, because the little guy, to us, and to all those around him, seemed perfectly 'normal'. He was sitting up unaided at this stage. Eating semi-solid food. Had a great appetite. Was engaging with everybody and anybody. Was babbling away. Was happy and cheerful most of the time. But he wasn't crawling. Wasn't making any effort to stand or walk.

But as everybody kept saying to us – “ah sure they're all different...it will come to him in his own time...I wouldn't worry about that...I know a little lad who didn't walk until he was two.”

Welcome reassuring words we wanted so much to be true. But the reality of the situation began to sink in with each passing day. For his Dad – the eternal optimist - it took a little longer than his Mam.

In the beginning...

In August 2009 Uisneach was born in Dublin, Ireland.  He was a couple of weeks overdue but still on the small side, weighing just 6 lbs.  A beautiful little dark haired boy with big bright alert eyes from the moment he was born, he was just perfect.  For almost the entire first day of his life outside the womb he barely slept a wink - watching and listening to every thing that came within his range.

However, his feeding or rather lack of it became an issue in those early hours and we had to resort to bottle feeding initially to ensure he was getting enough nourishment.  Although keen to get the wee lad home we were urged by the midwives to stay an extra day or two in the maternity hospital so they could monitor his feeding and to ensure he was taking to the breast milk.

A stream of visits from grandparents, aunties and uncles made the hospital stay fly by.  And we brought Uisneach home two days later.

A new experience awaited us.  Here we were responsible for this little person.  Someone that was absolutely dependent on us for all his needs.  But he made it easy for us.  Routines were established fairly quickly.  And he slept through the night from 10 weeks.  He was always happy and curious about everything and rarely cried.  He was the dream baby!

This was easy...or so we thought!