Saturday 28 May 2011

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.


  1. I found your blog and was very interested in it because my son is just about 18 months old too. He was just diagnosed a few weeks ago with 1p36 deletion syndrome. He hates his tummy too, and does not tolerate it well. We are looking at using a stander as well. I'm interested to follow your blog and see what you come up with. -Heather from Taylorsville, Utah, USA

  2. Hi Heather - we've found this whole blogging community around 1p36 very useful as well. In Ireland there was little enough information about the condition so it was helpful to see what other parents were having to deal with. Our aim is to keep the blog as up to date as possible but if there are any queries you have around any issues that arise that you think we might be able to offer advice on please feel free to contact us. Wishing all the best to you and your family.

  3. I really appreciated getting to know a little about Uisneach (a very handsome kid, by the way!) through your blog. My 6-month-old son, Giovanni, was diagnosed a about 2 months ago with 1p36. We live in Brazil and are slowly getting to know more about the syndrome and reaching out to the broader 1p36 community. I'm sitting at his bedside in the pediatric ICU right now, hoping he'll finally get to go back home in a few days.

    I expect my wife and I will also start a blog about our son soon.

    All the best,


  4. Hi Victor. We are wishing Giovanni the very best and hope he goes home healthy and happy really soon. If you haven't already found it there is a private group on facebook called 1p36 deletion syndrome awareness & support I think it has abut 200 parents from accross the world and its really great for asking questions and sharing advice and information. If you have any problems finding it let me know (we only found it ourselves very recently). Wishing you the very best and looking forward to hearing more about Giovanni in the months and years ahead. Miriam