Standers, signs and happy straps

Uisneach and cousin Katie-Gill at aunty Gill's wedding

They say you have to crawl before you can walk – that you have to take small steps, one at a time. We're not so sure that it will work that way for Uisneach. He never did and still doesn't like being on his belly and can get quiet upset when we try to force the issue – so it impacts somewhat on trying to get him to crawl. His physio and occupational therapists felt his wrath during the week. In fairness they persevered gallantly in spite of floods of tears, snot, drools and wailing and we believe they even made some progress. But even they knew not to push it too far! If the rest of his development is delayed the same can't be said for his lungs because they are up there with the best of them.

We've had an interesting few weeks, which has included the wedding of one of Uisneach's aunties and we have seen quiet a bit of progress with himself. We're not so sure anybody else sees that progress but we are convinced that it has been made. Every new development no matter how small is a big deal for us.

He is becoming a lot more cooperative in relation to the Stander we have from Enable Ireland. He's not entirely happy with it but is putting up little or no resistance when being strapped in to it. He's also tolerating longer periods in it. Our difficulty is still trying to find ways to entertain him while he's in it. We're not sure whether its a good thing or not but his favourite DVD seems to do the job best – and at least he's learning while watching.

His favourite – well actually his only DVD is “Lámh-a-Song” - a nursery rhyme DVD. Lámh is a manual sign system used by children and adults with intellectual disability and communication needs in Ireland. It was developed by Down Syndrome Ireland. So the DVD uses adapted sign language as well as visuals and sounds to relay the nursery rhymes. Our problem now is that each time we go in to the sitting room Uisneach is demanding that his DVD is played. Seriously, there is only so many times you can listen to and watch “Incy wincy spider” and “Old Mac Donald”. Although it must be said – the constant and painful repetition works. Uisneach's Mam is pretty good at the signing already and his Dad isn't too far behind. We've even noticed grannies and aunties and uncles showing off their new found skills.

Which brings us on to one of the bits of progress we've witnessed lately. Uisneach has had the DVD for a number of weeks now and we've tried to mimic all the signs as they are being made during the rhymes. We've also tried to encourage Uisneach to make the signs with hand over hand assistance. It's hard to say whether he's actually taking anything in. When you do it he mostly just looks at you with mild amusement or with utter contempt for interfering with him. So it was a very pleasant surprise when he was having dinner one day and his Mam was referring to his bowl of food that he made an attempt at signing. Now “bowl” would not seem to be one of the most useful words you'd imagine you'd go out of your way to learn - especially with simple signs like “hello”, “goodbye” and even “you” on offer. But “bowl” it was. He knew what he wanted to talk about. He didn't quite get the hand movement right. OK, if truth be known, it didn't look anything like the right hand movement but it involved both of his hands out in front of him and it definitely referred to the bowl in front of him. He was so so proud of himself. He was beaming up at the pair of us. Delighted with himself. We were so proud of him.

Uisneach with his bowl and food all over the place

The same DVD also provided another little progress bonus for us. During the chorus of Old Mac Donald when it got to the part about the sheep – he joined in with the “baa baa here and baa baa there” section by saying “ba ba” without prompting. Now he has since started saying “ba ba” outside of this context but he is also definitely saying it to coincide with the chorus on the DVD.

His awareness of his surroundings outside the house would also appear to be developing. When we are out in the car and coming home he becomes aware of the fact that we are approaching the house when we turn a particular corner on the road and starts verbalising with his “adaadaa...adaadaa” in quiet an animated and happy fashion. Not sure what he recognises from the route but it has become a regular trigger for the verbalisation at the exact same spot on the road.

On the treatment/therapy end of things we've had a couple of appointments lately. One with his psychologist at Enable Ireland and the other with a genetics counsellor at the National Centre for Genetics. Both were relatively positive and reassuring engagements.

We wanted the meeting with his psychologist because we wanted to make sure that Uisneach was in the right service for his condition. We wanted to know should he be in a service that primarily deals with physical disabilities as Enable does or a service that primarily deals with intellectual disabilities. It was the psychologist's professional opinion that Uisneach is in the right service at the moment – dealing primarily with his physical disability but that perhaps in a years time that he move in to a service to cater for the intellectual side of things. She felt that Uisneach with time and support would overcome his physical disability. She observed him while we were there and she was pleasantly surprised to see his level of interaction and understanding. She said she had observed many children over many years and was confident in saying that Uisneach's intellectual disability would be on the mild end of the spectrum with a chance that it might border moderate. If that is the case she didn't see any reason why Uisneach would not be able to be mainstreamed in education provided proper supports were in place for him. You never want to get carried away with things but this was very reassuring for us. And its funny how your perspectives change all the time. If we had been told before the 1p36 diagnosis that Uisneach would have a mild or moderate intellectual disability we would have been devastated and now it seemed like almost a cause for celebration. Life can be very strange and extremely unpredictable.

Our meeting with the Genetics Counsellor was the meeting we were told, when we first got the diagnosis back in February, wouldn't take place for 12 months. Thankfully Uisneach's mam with a little help from his main consultant managed to get the meeting brought forward. It was important to us to know what risks would be involved if we decided to have another child and also to find out a bit more about the syndrome itself. We learned that the risks as neither of us had any abnormalities in our chromosomes would be a one in one hundred chance of having another child with the same condition. It was also pointed out that in the general population there is a 2% chance of any child being born with something wrong with them. On that basis the odds seemed pretty good. Uisneach's Dad obviously didn't pay too much attention in Science class at school because he also found it very fascinating learning how chromosomes work and exactly how the 1p36 deletion happens. The genetics people provided us with information – most of which we'd already tracked down and researched ourselves – but also with contact details in Ireland for a support group connected to the british based organisation Unique: The Rare Chromo – which we hadn't known about. It was a good meeting.

Next on the agenda for us was – on the advice of Uisneach's physio – to track down an item called a “happy strap” - a device designed as an aid for infants and children with hypotonia (low muscle tone) to assist the control of ligament laxity and joint flexibility in the hips.  Uisneach's Mam was a bit wary of putting in the words “happy strap” in to a web search engine for fear of what might come up. No need to worry. The good people who make the “Happy Strap” clearly have good Search Engine Optimization because it's first on the list. So you can avoid the “Happy strap-on day: Lesbians” which features much further down the list.

The Happy Strap we were interested in is made by a company in South Africa. Their slogan is “increase mobility through stability”. There was no direct supplier for the product in Ireland but there was a link on the Down Syndrome Ireland website so we ordered online and it arrived just over a week later. It cost of €100. It's a little harness that Uisneach wears around his waist and goes down over his thighs. It gently forces him to sit with his legs closer together and prevents him, especially at night, from lying with his legs splayed apart. Even in this short time it has already started to improve his posture and his efforts at standing. So for us it has definitely been a worthwhile investment.

Well that's all for now. We're off to Galway tomorrow morning on a little road trip. Uisneach's Mam is to attend a conference for her work while Dad and Uisneach will take in the sights and sounds of the city and stay over with some friends for the night.

Hearing tests and Horse riding

A windy day at the harbour with new sunglasses and haircut

Uisneach is now 20 months old. We had another busy couple of weeks with various appointments for the wee lad. The last time we posted Uisneach had just gotten his glasses and they’re working out very well. Remarkably he hasn't attempted to remove them at all and in the morning seems quiet excited about getting them on.

Oddly enough he’s been babbling much more since he got them.  Perhaps you do have to see to hear.  His syllables have really come on and he seems to enjoy listening to himself. He can do baba, dada, lala and even mama now. He used to really struggle with 'm' sounds. On the down side we haven’t heard him say ‘up’ or ‘ta ta’ in weeks and they were his only words.

From everything that we’ve read about the 1p36 syndrome it seems that speech is often particularly badly affected but every child is different and we imagine it will be some time before we can fully identify Uisneach’s capacity for speech.

We have been attending a course for parents every Monday night in Enable Ireland for the last few weeks. It's called the ‘Hanen method – It takes two to talk’. It’s great for giving us ideas to promote Uisneach’s communication skills even if at this stage he just gestures or looks to an object. It's important that we help him develop the concept of communication and turn taking. 
 

Uisneach with favourite blue block

So we're focusing more on adding language to our morning routine by labelling his body and clothes, identifying colours (blue is his absolute favourite to the virtual exclusion of all others!). And while he has always been very cooperative in terms of getting dressed we are introducing the concept and associated word of ‘push’ing his hands through his sleeves. We’re also consciously offering him more choices like between two books or toys or his drink or food at mealtime and pausing in the middle of his favourite rhymes and songs in an effort to prompt him to communicate more and take his turn.

Another visit to Crumlin Hospital

Uisneach had his first proper audiological assessment last week in Crumlin Children’s Hospital.  We were very impressed with the audiologist’s ability to maintain Uisneach attention.  She was distracting him by slowly playing with blocks in front of him with one hand, using the other hand behind a screen to press the various frequencies and then a pedal under the table to light up a freaky looking kitten in a glass case in the top corner of the room each time Uisneach heard the sound.  She had it down to a fine art.

Uisneach’s hearing is normal at the low and high frequencies but dips a little in the middle.  However his hearing is sufficient for speech and language development.  We have to come back in 3 months because Uisneach had become a bit bored and cranky and she couldn’t finish all her tests because it needs to be conducted in complete silence. It would be preferable if he was asleep for the rest of the tests she said. How we're going to manage that is anybody's guess! And anyway Uisneach's snoring while asleep certainly doesn't constititue complete silence.

On the physical side of things Uisneach is making some progress in that he can bear his weight on his legs for longer periods if we pull him up to stand.  We have the loan of a Stander from Enable until we get our own and he's been standing in this for periods each day.  It's hard to figure out ways to entertain him in it. The sweeping brush has been a useful distraction as has the washing machine – not exactly educational we know but hey you go with what works. We also got him a sand and water table for the back yard to go with our unseasonably warm sunny weather.  He loves the water side but not so much the sand since he discovered it doesn’t taste nice. We can still hear him grinding the sand in his teeth – one of the most unpleasant sounds to come across.

Playing with new sand and water table - Sand doesn't taste nice!

Horse Riding for theraphy

It had been suggested to us before by his physio and occupational therapists that horse riding might be helpful to Uisneach in terms of increasing his mobility – specifically around his pelvis. However, with everything else that was going on – appointments etc – we just never found the time to follow up on it. That changed two weeks ago when we found a horse-riding centre close to where we live that specialises in dealing with children with special needs. We were very impressed with the The Festina Lente (Hasten Slowly) centre in Bray.

We're not sure that Uisneach really comprehends animals – understands that they are other living beings. He doesn't seem to pay any particular attention to them. Not like he does with other people. In fact at the riding centre he seemed far more interested in the little colourful buckets that acted as markers in the arena than in the horse.

That didn't put him off the horse-riding though. He took to it like a duck to water. With a little support from his Dad and his uncle Dave and the staff of Festina Lente he managed to stay on the horse for 25 minutes without a bother. He seemed to really like the motion and the new environment and of course the attention he was getting while on the horse. He likes attention.

We're going to check back in with his physio and if they recommend it we're going to book him in for a course.

A visit to the opticians

Following last weeks visit with the Optimologist in Crumlin Hospital we decided to arrange a visit to an opticians to get Uisneach's prescription taken care of.  We were recommended a place, Thomas Carroll Opticians in Dundrum, where they specialise in looking after small children.  It turned out to be a good recommendation.  And once again Uisneach still managed to surprise us by being his usual cooperative self.  Not a bother on him.

One eye was fine but there was a chance the other eye which had weaker vision would become 'lazy' if the problem wasn't addressed. It's a common enough problem in children apparently.  Often it wouldn't be noticed until a child was of school going age but as Uisneach was being checked for other potential eye issues it was spotted early thankfully. It's hoped the treatment will lead to a correction of the problem.

His Mam was still concerned that the glasses would take away from his good looks and was thinking 'designer' glasses - no matter how much they cost!  A grandmother and an auntie agreed.  His Dad wasn't so sure.  In the end we went with the recommendation from the optician.  A Fisher Price - yes the toy people - pair of glasses.  Uisneach seemed pleased enough with them.  He was happy to leave them on all the way home and up until his bedtime.  We were amazed.  Whether they take away from his looks or not we still reckon he's very cute.

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.