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 85^th 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.

Communication

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 1^st 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.

Uisneach’s 2nd birthday and other things

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.

Music workshop

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.

Audiology assessment

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.

Night terrors

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.

Summer holiday, sick child – and some nice surprises!

The view from every room in the house overlooking Clew Bay

July saw the three of us hit the road for a seven day summer break. We headed for a beautiful rented house overlooking Clew Bay in County Mayo. We were joined by Uisneach's two little cousins – Katie-Gill and Tom and their parents – so six adults and three children in all. We had hoped that some extended time in the company of other children of a similar age would be good for Uisneach. Everything started fine. It was an amazing house. More than enough room for us all. A large garden and breath-taking views from every-room. A pub and restaurant less than five minutes walk. And even the weather started on a good note! Heaven. We all even managed to go out for a meal together without any major mishaps or incidents involving the kids.

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

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.

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.