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.