Tuesday 17 January 2012
Tuesday 3 January 2012
Christmas 2011 was Uisneach's third Christmas but it will go down as the Christmas when Uisneach first appeared to get a sense that there is something different and special about this time of year. Not only does he now recognise Santa, and has even managed to create his own sign language to describe him – pointing to his chin for a beard and to his head for a hat, but he also seemed to get the notion of giving and receiving gifts. He certainly liked the idea of opening them anyway! Weeks of preparation helped. Photos of Santa. Pre-Christmas visits to a number of places where Santa and his helpers were hanging out prior to the big day. A countdown using a Mr. Men Christmas calendar – opening a door and consuming a small chocolate every day until the 25th. And of course his Mam doing all in her power to create a sense of excitement throughout the whole month of December. Even his Dad managed to get over the initial grumbles he had when this Christmas process started in November.
Uisneach's grandparents, his aunties and uncles on both sides and his little cousins all visited on Christmas Eve. Uisneach was very happy to see them all and didn't seem to mind all the noise and confusion that accompanies large family gatherings. Once Uisneach is there first he seems secure and safe. He doesn't like being surprised by lots of people in his house. He tends to cry a bit if he wakes from a nap to find them crowding his space. We'd learnt that lesson at his birthday party.
The adults all sampled a bit of mulled wine and had some nibbles. The little ones consumed large quantities of cocktail sausages and cookies – sometimes separate - sometimes in the same mouthful!
That went on for a few hours before people decided to make their way home to their respective houses. It was quiet time then as we prepared for the arrival of the main man himself.
Christmas morning Uisneach didn't wake too early so his Mam and Dad were pleased with that. We went down for breakfast together and sitting on Uisneach's table was a photo of Santa delivering presents in our sitting room. Imagine that! Apparently he left it as evidence of his visit. A very patient or unimpressed Uisneach finished off his porridge before we went in to see what Santa left.
There waiting for him were a little ladybird (or ladybug depending on what part of the world your from) push along trike i.e. without pedals, a large bag of building blocks, a play kitchen and some books. Santa obviously put a bit of thought into the presents this year in the hope of maximising Uisneach's developmental potential. The trike, it is hoped, will not only help him with his balance but might even motivate him to start using his legs to move forward. The blocks – which are much bigger and easier to take apart than Lego – are aimed at help him with some of his fine motor and planning skills. The kitchen unit is primarily about encouraging him to remain standing for longer periods to build up strenght in his legs. The books – well he just loves books – and following a story is as good a skill as any to learn and develop. A non Santa gift that was also on offer on Christmas morning was a remote control car from a family friend.
He had a quick go on his ladybird trike before promptly falling off. You can't take your eye off them for a second! So that was set aside for a while until he got over the shock of his little tumble. There were a few tears but a quick recovery due to all the other distractions going on. The blocks proved by far the most popular present but not for their intended purpose. Instead Uisneach really enjoyed having the blocks emptied out over him as he was sitting down. He loves when there are loads of anything and here there were a hundred blocks raining down on his lower body. He was in heaven. Laughing his head off! Next his Mam gave him a quick introduction to the remote control car – with a simple three button control - to see if he would understand the cause and effect of pressing buttons on one thing and making another object react. He took to it straight away. His Mam and Dad shouldn't have been too surprised though as he's constantly interfering with the remote control for the television and knows that randomly pressing the button on the TV remote control will eventually do something to the television.
|Playing with cousin Tom at Mamós on Christmas Day|
We're no psychologists but what has been an eyeopener for Uisneach's Mam and Dad is that in the first instance he is expressing a clear empathy with others, even if at this stage its only with a character in a story, and secondly that it appears that he has been following the stories correctly all along even if that hasn't always been clear to us. It's been a revelation – a welcome revelation we think although it will be interesting to see what the professionals have to say about it.
|Taking his first Roller Coaster ride with Mam|
|With Dad on the Teacup ride|
|A swing in the park the day after Christmas|
Friday 25 November 2011
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.
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.
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.
Thursday 1 September 2011
Uisneach turned two and we cannot believe how fast time flies! Our Dublin-based family came to celebrate and we had a lovely party. It began with a few tears – understandable given the shock of coming downstairs from a nap to find his house choc-a-block with our particularly loud family. But he quickly cheered up and really enjoyed all the attention, especially when everyone sang happy birthday. His Mam stayed up late the night before making him a ladybug birthday cake. This went down well because Uisneach loves, loves, loves ladybugs.
Uisneach loves music. Maybe even a little too much. He’s always demanding that we put it on and he doesn’t take too kindly to being told no. But he actually has fairly decent taste. His favourites include some nursery rhyme CDs, Joni Mitchell and Bob Dylan. And he really tunes into the lyrics too. Each time Bob Dylan’s Lay lady lay comes on he gestures wildy towards a light in our kitchen. Couldn’t figure out why at first until the song gets to the final verse, if you listen carefully there’s a line “whatever happens in the morning light” and he starts pointing at the light again.
Following a recent assessment Uisneach’s psychologist put his overall functioning at 12 months old (he’s actually just turned 2 years) but she put his understanding of language at 16 months. It makes sense to us that his understanding is that bit more advanced because we’ve always felt he likes to learn new words, to hear them and to prompt us to say them. And we think he’s always listening out for the words that he knows – in our conversations, in songs and on the TV. His very favourite ad on TV is for 123.ie car insurance and now whenever an ad for “insurance” comes on he looks up hopefully! In terms of speaking words he’s still only really saying Ta Ta when you give him something and he says Ma Ma and Da Da lots but not specifically meaning us. He’s also making increased efforts to sign. Bowl, plate, more and nite nite are the ones he makes the best attempts at. And when we read him “The very hungry caterpillar” he’s started to rub his tummy for “hungry”.
Anyway when Uisneach’s service provider Enable Ireland recently hosted some music workshops we brought him along thinking he’d love it. We were wrong. The guy running the workshop was really good he had lots of unusual instruments with strings, bells and percussion. He’d sing funny songs and share the instruments around for the kids to try. Only problem – Uisneach like any more typical two year old does not do patience. So when he saw an instrument that he wanted, he wanted it NOW not after the nice man had finished his song! We left a little early.
Uisneach’s Mam was relieved of the excuse to leave having found it particularly hard to witness the mobility of the other kids at the workshop. We’re used to Uisneach’s little cousins running and crawling rings around him - he has a disability and they don’t. Somehow it’s harder when you’re in a room of children with disabilities and all of them are crawling or shuffling around robbing each others’ instruments while our own son sits there helpless and unable to reach another little boy’s harp that he’s been eyeing up.
Good news on the hearing front. Uisneach had the second half of his audiology assessment and they concluded by the end of it that his hearing is fine. But he’ll be recalled annually as the literature on Uisneach’s syndrome suggests that hearing loss can be progressive. Interestingly his right ear failed one of the main tests. It was the test that they had to abandon last time we were there. It involves putting something in his ear that emits a frequency and then they wait to see if something rebounds back registering on their computer. It requires silence so we had to bring Uisneach in asleep which required military style planning. Anyway the audiologist was getting nothing back from his right ear prompting him to start talking about permanent hearing loss. Thankfully he past all the rest of the tests for which he was awake. I can only imagine that his snoring threw the first one off!!
New Neurology Doctor
Uisneach’s principle doctor had been a locum consultant neurologist who was great, although he had never come across the syndrome before himself. He diagnosed Uisneach, referred us to Enable Ireland for therapies and helped us to secure Uisneach’s social welfare and tax entitlements. He has now been replaced by a new permanent consultant neurologist and we were delighted to meet her at his 6 monthly check-up and to learn that she will be his new principle doctor for the foreseeable future. We were also pleasantly surprised when she told us she has come across 1p36 deletion syndrome before. So she has a degree of familiarity with the syndrome already which is great. She has decided to order an MRI for Uisneach so that we can identify a few more pieces of the puzzle and hopefully gain some insight into his development. Due to lengthy waiting lists it’ll probably be 8 or 9 months before he’s reached but we’re glad that it’s going to happen.
A work colleague of Uisneach’s Mam and Da who has a background in medical genetics kindly took the time to look into 1p36 deletions and then talk us through the science of it all. He advised us to seek a full breakdown of Uisneach’s deletion i.e. the list of genes that Uisneach is missing so that as research paper’s are published into the future linking features of the syndrome with particular genes we can compare this new information to Uisneach’s deletion. Of course he also warned that the link between particular missing genes and particular features is never going to be straightforward because the expression of the deletion also depends on what genes remain and what sits alongside what on the chromosome. Research on this syndrome is really in its infancy and we have been sorely disappointed by the lack of information on it. We feel that it is vital that more research be undertaken. And given the very small numbers that have been diagnosed and the variable nature of the deletions and its expression this research would need to be international in nature. We are eager to add Uisneach’s case to the pool of medical knowledge. So our colleague advised that we write to the small circle of scientific and medical professionals that he identified who are researching 1p36 and indicate to them our willingness to participate as appropriate. So we will do that (when we get a minute!) and after discussing this with his new doctor she kindly offered to assist in terms of forwarding reports on Uisneach to the researchers if requested.
We had a worrying few nights recently. Uisneach would wake up screaming in the middle of the night for no apparent reason. We would go into his room to try and comfort him but he would be inconsolable. We’d pick him up to hold him but the high pitched screaming would continue - nothing we could do or say would have any affect. He would appear to be in a state between sleep and wake. We didn’t know if he was in pain, whether he was having a nightmare or whether it was something more concerning. The screaming would continue for about 10 minutes. The only thing that seemed to work was when we’d put him back into his bed. Almost as soon as we’d put him lying back down the crying or rather screaming would cease and on a couple of occasions he would almost laugh with the relief before quickly going back to sleep.
One of our concerns has always been that Uisneach could develop seizures like so many of the other kids with 1p36. He hasn’t to date and we’re thankful for that. The nature of these little episodes had us a little worried though - especially considering he did not seem to be fully awake or conscious of what was happening around him. A little bit of research leads us to believe, and we suppose hope, that rather than any kind of a seizure what Uisneach was going through was a bout of ‘night terrors’.
Reading the symptoms on ‘night terrors’ which are apparently common enough amongst children generally, Uisneach appears to be a text book case. The recommended course for dealing with it is the exact opposite to what a parent’s natural instinct would be and to what we were doing with Uisneach. They are still in a sleep state although their eyes might be open. And apparently you should not try to wake them, move them or actively sooth them. That can increase the anxiety and lengthen the time of the ‘terror’. The best course of action advised is to allow them calm themselves. So on the fourth night when Uisneach began to scream we stood quietly just outside his door and sure enough after 2 or 3 minutes he was sleeping soundly, snoring away. So fingers crossed it doesn’t develop into a big issue.
We also read that it can be triggered by sleep apnea and as it happens Uisneach is being investigated for that. The sleep centre in Crumlin Childrens Hospital actually sent us out an oximeter to measure his oxygen levels while he sleeps just a couple of weeks ago and he has an appointment scheduled with the airways consultant in November so hopefully we will get more answers then.
Wednesday 20 July 2011
|The view from every room in the house overlooking Clew Bay|
Unfortunately that only lasted for two days! Poor wee Uisneach became ill on day three and became progressively worse over the next couple of days. So it was sleepless nights and constant nursing during the day for his Mam and Dad while still trying to get something out of the holiday. When his temperature soared to 39 degrees we had to contact an out of hours doctor service locally to see if we could get access to a doctor. This resulted in a half an hour drive on a narrow, windy, country road to the town of Westport to see a GP. Uisneach had tonsillitis and bronchitis and was pretty unwell. He was proscribed an antibiotic and we were told to keep his fluids up. As we made the return trip to the house Uisneach was physically sick so we had to pull over to tend to him for a while. We decided to abandon the 'holiday' early to take him home to his and our more familiar surroundings.
|Enjoying the mini-railway in Westport House before becoming sick|
As we don't have any other children its hard to know whether the strong feelings and emotions that we went through while trying to nurse Uisneach back to health were the normal parental emotions that any parent goes through or if there was something deeper because you sense a greater vulnerability because of his disability. It would break your heart just watching his little listless body curled up in an almost fetal position on the bed or sofa and emitting soft weak little moans. You just feel so helpless and useless.
Then at night you can't sleep because you're paranoid and fearful that you mightn't hear him if he's sick or if he has trouble breathing. Then, lying awake in your bed, your mind starts to lose the run of itself and you start imagining all sorts scary thoughts and you inevitably start to dwell on his disability again and the life that's ahead of him – none of it pleasant. Darkness with no light at the end of the tunnel. A depressing end to our 'holiday'!
And that depression could have lasted a while was it not for our little trooper. He was still quite sick when we got him home and it would take him a number of days and a visit to his own GP to recover. But as always he tries so hard to put on a smile and be in good form that it can be quite infectious (if you'll excuse the unintended pun) and things tend not to look so bleak.
Well, he's mostly over it now and is back eating properly having been right off his food for the best part of two weeks. He's also getting back in to his various routines – physio, occupational therapy and speech and language etc after almost a three week break. And what do you know. He's like a new man. His first day back in physio in Enable he decides to surprise us all. After being brought in to position at a table where the physio was preparing to get him to stand by supporting his legs with her hands he decides that he doesn't need her support. For the first time in his life, at 23 months of age, he stands next to the table all on his own – nobody supporting him. Just his own little hands resting on the table for a bit of balance. And he managed to do this for more than a minute each time on several more occasions. The physio looked gobsmacked. Uisneach's Dad too. It was like a brilliant white light had just illuminated the whole dark tunnel from the week before. It was like Uisneach had just needed a break from the hard work involved in his physio and other therapy's and the sickness had provided him and us with the excuse not to be pushing him too hard and not to be making too many demands on his little body. “I'll do it in my own time.” And so he did and not just in the physio session. He has repeated the ability everyday since. It was a little but significant milestone that Uisneach's Mam and Dad had thought was still some way off.
It's while you're in these all too rare happy-clappy illuminated places that you then begin to think – hang on a minute there – he has made progress in other areas too but we were either too busy or too focused on the next step to see that progress. And you think back. Since our last blog Uisneach has improved with his fine motor skills by attaining the ability to use his index finger separate to the rest of his digits – for pointing (to Dad's eyebrows primarily), poking (holes of various shapes and sizes – including his nostrils which he finds hilarious and at times very practical) and in conjunction with his thumb for picking up small objects (like raisins which he loves to amass and stick to the roof of his mouth to be consumed later – sometimes several hours later!).
Uisneach has also learned to play peekaboo in the last month or so and has managed at long last to put a particular block in the correct shaped hole on one of his toys.
All small, but well lit steps in the right direction, for the three of us nonetheless.
|Paddle-boating on lake at Westport House|