Friday 25 November 2011

Christmas, communication and back to Crumlin

It's been a while since the last blog. Uisneach's Mam and Dad seem to have been very busy for the last couple of months – at least too busy or perhaps more accurately too tired to put together a coherent blog on things that are happening in Uisneach's life.

All snug in his winter jacket while taking a stroll in Dún Laoghaire with Dad

It's been an eventful couple of months and perhaps chronologically its best to work backwards as things come to mind.

So first and foremost congratulations are in order for 1p36 Deletion Support and Awareness in the US on their success in securing funding from the Chase Community Giving programme. The top 100 charity organisations voted for on Facebook shared a fund of $3 million. Finishing in 85th place meant that 1p36 Deletion received a very welcome $25,000. Uisneach's Mam and Dad were delighted with the response they got from their friends and family in Ireland, Scotland, England, the Basque country, Germany and in California in supporting the campaign. They believe that raising awareness about the condition and encouraging more research – no matter where it takes place – will benefit families affected by 1p36 all over the world.

Early Christmas

Well, the Christmas season started early for Uisneach's clan. His dad was not at all happy that the season was starting in November! Bah humbug! Last Sunday Uisneach joined his two little cousins – Katie Gill and Tom – for a visit to Santa at a toy exhibition. Uisneach's Dad grumbled that he could think of better things to do on a Sunday in November than milling around a toy exhibition – trying to navigate your way through streams of buggies and what seemed to be millions of over excited little people – and queuing to see Santa. Bah humbug! He was not at all impressed when a little elf at the entrance suggested to him that if we left it any later the queue for Santa might take up to two and half hours as it did the day before! He insisted on joining it immediately. Thankfully the queue was still quite short at that stage – perhaps taking just a half hour to see the main man himself.

Meeting Santa
We still had no idea how Uisneach was going to respond. He can be a bit wary of strangers – especially in unfamiliar surroundings and can become very upset at times. So his Mam and Dad did a lot of advance preparation. Trying to introduce the concept of Santa and trying and make Uisneach familiar with him when they finally met. We printed off a picture of Santa from the internet a few days before and started talking to him about Santa and talking about his big white beard and his red hat and coat. It worked! Can't say he was over the moon or anything to see the bearded one but he was quite relaxed and instantly recognised him when we entered the little house and even tolerated getting his picture taken with him. Since the visit he is even making an effort to create his own sign for Santa – pointing to an imaginary beard on this chin and then to a hat on his head. Clever little chap.


Uisneach's non-verbal communication is coming along the whole time. He's making a good effort at a number of signs now. 'More' and 'Again' are amongst his favourites. 'Dog' and 'Big' are also popular. He is currently fascinated with numbers and counting. And there is an intensity about him when you start to count anything – whether its the number of crayons he's holding at that time or the number of raisins he has to eat in front of him. He will concentrate so much. And then he will continually act as if he is testing you. He'll hold up one crayon and stare at you. You will say “One Crayon”. And without looking away he will pick up a second or third crayon and wait on you expectantly to say “Two” or “Three Crayons”. Then he'll drop one or two and wait for you to announce how many he has now. This can go on for a while and he seems to enjoy it. Then he will drop everything and start behaving as if he is counting numbers on his fingers. With the index finger on one hand he'll start separating the fingers on the other hand. Then periodically he will stop and grab his two ears. We think that he has begun to associate his ears with counting because we have often referred to his “two” ears. Not the most practical means of counting it must be said – can't imagine standing in a coffee shop tugging on your ears to indicate that you want two coffees!

By far Uisneach's greatest advancement in non-verbal communication has been use of pictures and photographs to indicate what he wants. His Mam has put together a number of small photo albums – each one dedicated to a different topic. For example he has a photo album dedicated to all this favourite books. He has another dedicated to his toys. Then another for meal time, one for bed time and yet another for people and places and finally a new one for TV programmes. So for example if its playtime in the sitting room Uisneach will be presented with three albums – one will have an image of books on the cover. One will have toys and the other will have an image of a TV. Uisneach will then decide which one of the categories he wants. He'll take that album and flick through it until he identifies which item he wants. He would appear to have an excellent memory because watching him flick through the albums it is clear that he knows what he wants before he opens it because he races through to a page that is clearly pre-determined in his own mind.

With the aid of his speech and language therapist Uisneach has also being trying out a couple of new electronic communication devices to see how he gets on. The first was the GoTalk One – a simple little unit that allows a word or a phrase to be recorded that is then played back when a large button is pressed by the user. Uisneach was first introduced to it with the word 'more' recorded by his Mam. It was given to him to use when eating raisins. He loves raisins. So we would ration them out – three or four at a time – and when Uisneach wanted more he would be encouraged to press the button on the GoTalk. He took to this almost instantly and seems to have grasped the concept without any great difficulty. It has its obvious limitations though. So in his Mam and Dads and his therapists enthusiasm the GoTalk Four was introduced. A much bigger unit with multiple options for recording phrases and words. However the buttons proved just too tricky for Uisneach's delicate touch. He just wasn't getting a response when a button was pressed. So rather than let him get annoyed and frustrated it was decided he wasn't quite ready for it yet and we moved back down to a very sensitive two button unit – the Ablenet Italk2. So while not as advanced this unit still allows Uisneach to make decisions or to answer yes or no or similar choice questions – and thankfully he is showing a capacity to understand the concept behind it.

So things are quite positive as we enter the later half of November. But it hasn't been all plain sailing since the last blog.

Back to Crumlin Hospital

Waking up after operation
Uisneach has had a number of appointments in Crumlin hospital since then. All but one of them were scheduled appointments so no major concerns. On November 1st he was in hospital for surgery. Thankfully it was nothing too complicated and was not connected with his 1p36 Syndrome. It was a little man problem that needed to be rectified before he got any older. He was to be brought in in the morning and would be home again in the afternoon. While waiting to be brought in for surgery it was clear that he was becoming a little anxious. He didn't like the pre-surgery review by the doctor. He didn't particularly like the waiting area but at least he was able to be distracted by toys. In fairness to him he handled the whole thing very bravely. After the surgery it was heart wrenching watching this tiny little limp body propped up on a pillow – slightly sliding to one side – being wheeled in to the recovery room on a huge bed. His eyes were open and he had a sad little expression on his face. He was clearly still feeling the effects of the anesthetic. However, it wasn't until he saw his Mam and Dad that he started to cry. Not sure if it was tears of relief on seeing them again or anger for allowing this to happen to him. Either way he recovered his composure quite quickly and went for a wee nap. After about an hour he woke up and had a bit of milk and some biscuits. Then he was allowed home to recover. Plenty of rest and painkillers. He was a real little trooper. No complaining. And as always trying to be in good form despite the fact that he had three different incisions.

However, the poor little guy was hit with a double whammy while recovering. On the second night his temperature started to rise. In the morning his Mam contacted his GP who told us to bring him straight back in to the hospital just to make sure the rise wasn't associated with his surgery. Thankfully it wasn't but they did find that he contracted tonsillitis – so more medication was prescribed and back home to recover from his operation and now tonsillitis

In the meantime the Sleep Centre in the hospital contacted us to offer a chance to bring home equipment to conduct a proper sleep study on Uisneach to see if he was suffering from Obstructive Sleep Apnea which is often linked to children with his syndrome. The offer to bring the equipment home was made because the waiting list for a sleep study to be conducted in the hospital was quite lengthy. There were a lot of probes and wires to be attached to him – under his nostrils – across his chest – around his tummy and one on his toe. For the test to be successful we needed to get good readings from all of these. They were to remain in place for the whole night. That was on a Friday.

By coincidence Uisneach was also scheduled to see the Ears Nose and Throat specialist in relation to the same issue on Monday – when we were due to drop of the Sleep Study equipment. That was sent off for analysis as we met with the Specialist. She gave him a quick examination and concluded almost immediately that despite his current bout of tonsillitis that they wouldn't be of major concern and she didn't feel that they need to be removed as part of any treatment for Sleep Apnea. She would await the full results of the Sleep Study – which it had been established was successfully conducted – before drawing any further conclusions.

Presidential election and Football final

With Presidential candidate Martin McGuinness
Towards the end of September two historic events took place (from an Irish point of view at least) on the same day and in to which Uisneach had a small cameo role. The third Sunday of September is traditionally all-Ireland football final day. It is the culmination of an inter-county Gaelic Football championship. Uisneach's home county – Dublin – were in the final for the first time in a number of years and hadn't won the final since the early 1990s. On the same day a candidate entered the race for the Irish presidential election which sparked a flurry of media activity and public interest. Although unsuccessful, the candidates entry in to the race shaped the rest of the campaign and ultimately played a key role in deciding the eventual winner. But that's another story. Uisneach's Dad was working at the campaign launch so Uisneach and his Mam decided to come along. To mark the occasion Uisneach arrived in style wearing his Dublin football team kit and duly posed for photos with the presidential candidate. That afternoon Uisneach and his Dad watched the match at home on television and witnessed Dublin pull off an historic victory in front of a crowd of almost 90,000 people. In the meantime Uisneach's photo with the Presidential candidate was winging its way around the internet via a Dublin based photo-news agency.


  1. Thanks for sharing! I really should start one of these too but like you said just never have the time! Roni, Mom of Jaxon FL USA 9 months old with 1p36

  2. He is such a darling little boy! Sounds like some busy months. He looked darling with Santa what a cutie.