Uisneach turned two and we cannot believe how fast time flies! Our Dublin-based family came to celebrate and we had a lovely party. It began with a few tears – understandable given the shock of coming downstairs from a nap to find his house choc-a-block with our particularly loud family. But he quickly cheered up and really enjoyed all the attention, especially when everyone sang happy birthday. His Mam stayed up late the night before making him a ladybug birthday cake. This went down well because Uisneach loves, loves, loves ladybugs.
Uisneach loves music. Maybe even a little too much. He’s always demanding that we put it on and he doesn’t take too kindly to being told no. But he actually has fairly decent taste. His favourites include some nursery rhyme CDs, Joni Mitchell and Bob Dylan. And he really tunes into the lyrics too. Each time Bob Dylan’s Lay lady lay comes on he gestures wildy towards a light in our kitchen. Couldn’t figure out why at first until the song gets to the final verse, if you listen carefully there’s a line “whatever happens in the morning light” and he starts pointing at the light again.
Following a recent assessment Uisneach’s psychologist put his overall functioning at 12 months old (he’s actually just turned 2 years) but she put his understanding of language at 16 months. It makes sense to us that his understanding is that bit more advanced because we’ve always felt he likes to learn new words, to hear them and to prompt us to say them. And we think he’s always listening out for the words that he knows – in our conversations, in songs and on the TV. His very favourite ad on TV is for 123.ie car insurance and now whenever an ad for “insurance” comes on he looks up hopefully! In terms of speaking words he’s still only really saying Ta Ta when you give him something and he says Ma Ma and Da Da lots but not specifically meaning us. He’s also making increased efforts to sign. Bowl, plate, more and nite nite are the ones he makes the best attempts at. And when we read him “The very hungry caterpillar” he’s started to rub his tummy for “hungry”.
Anyway when Uisneach’s service provider Enable Ireland recently hosted some music workshops we brought him along thinking he’d love it. We were wrong. The guy running the workshop was really good he had lots of unusual instruments with strings, bells and percussion. He’d sing funny songs and share the instruments around for the kids to try. Only problem – Uisneach like any more typical two year old does not do patience. So when he saw an instrument that he wanted, he wanted it NOW not after the nice man had finished his song! We left a little early.
Uisneach’s Mam was relieved of the excuse to leave having found it particularly hard to witness the mobility of the other kids at the workshop. We’re used to Uisneach’s little cousins running and crawling rings around him - he has a disability and they don’t. Somehow it’s harder when you’re in a room of children with disabilities and all of them are crawling or shuffling around robbing each others’ instruments while our own son sits there helpless and unable to reach another little boy’s harp that he’s been eyeing up.
Good news on the hearing front. Uisneach had the second half of his audiology assessment and they concluded by the end of it that his hearing is fine. But he’ll be recalled annually as the literature on Uisneach’s syndrome suggests that hearing loss can be progressive. Interestingly his right ear failed one of the main tests. It was the test that they had to abandon last time we were there. It involves putting something in his ear that emits a frequency and then they wait to see if something rebounds back registering on their computer. It requires silence so we had to bring Uisneach in asleep which required military style planning. Anyway the audiologist was getting nothing back from his right ear prompting him to start talking about permanent hearing loss. Thankfully he past all the rest of the tests for which he was awake. I can only imagine that his snoring threw the first one off!!
New Neurology Doctor
Uisneach’s principle doctor had been a locum consultant neurologist who was great, although he had never come across the syndrome before himself. He diagnosed Uisneach, referred us to Enable Ireland for therapies and helped us to secure Uisneach’s social welfare and tax entitlements. He has now been replaced by a new permanent consultant neurologist and we were delighted to meet her at his 6 monthly check-up and to learn that she will be his new principle doctor for the foreseeable future. We were also pleasantly surprised when she told us she has come across 1p36 deletion syndrome before. So she has a degree of familiarity with the syndrome already which is great. She has decided to order an MRI for Uisneach so that we can identify a few more pieces of the puzzle and hopefully gain some insight into his development. Due to lengthy waiting lists it’ll probably be 8 or 9 months before he’s reached but we’re glad that it’s going to happen.
A work colleague of Uisneach’s Mam and Da who has a background in medical genetics kindly took the time to look into 1p36 deletions and then talk us through the science of it all. He advised us to seek a full breakdown of Uisneach’s deletion i.e. the list of genes that Uisneach is missing so that as research paper’s are published into the future linking features of the syndrome with particular genes we can compare this new information to Uisneach’s deletion. Of course he also warned that the link between particular missing genes and particular features is never going to be straightforward because the expression of the deletion also depends on what genes remain and what sits alongside what on the chromosome. Research on this syndrome is really in its infancy and we have been sorely disappointed by the lack of information on it. We feel that it is vital that more research be undertaken. And given the very small numbers that have been diagnosed and the variable nature of the deletions and its expression this research would need to be international in nature. We are eager to add Uisneach’s case to the pool of medical knowledge. So our colleague advised that we write to the small circle of scientific and medical professionals that he identified who are researching 1p36 and indicate to them our willingness to participate as appropriate. So we will do that (when we get a minute!) and after discussing this with his new doctor she kindly offered to assist in terms of forwarding reports on Uisneach to the researchers if requested.
We had a worrying few nights recently. Uisneach would wake up screaming in the middle of the night for no apparent reason. We would go into his room to try and comfort him but he would be inconsolable. We’d pick him up to hold him but the high pitched screaming would continue - nothing we could do or say would have any affect. He would appear to be in a state between sleep and wake. We didn’t know if he was in pain, whether he was having a nightmare or whether it was something more concerning. The screaming would continue for about 10 minutes. The only thing that seemed to work was when we’d put him back into his bed. Almost as soon as we’d put him lying back down the crying or rather screaming would cease and on a couple of occasions he would almost laugh with the relief before quickly going back to sleep.
One of our concerns has always been that Uisneach could develop seizures like so many of the other kids with 1p36. He hasn’t to date and we’re thankful for that. The nature of these little episodes had us a little worried though - especially considering he did not seem to be fully awake or conscious of what was happening around him. A little bit of research leads us to believe, and we suppose hope, that rather than any kind of a seizure what Uisneach was going through was a bout of ‘night terrors’.
Reading the symptoms on ‘night terrors’ which are apparently common enough amongst children generally, Uisneach appears to be a text book case. The recommended course for dealing with it is the exact opposite to what a parent’s natural instinct would be and to what we were doing with Uisneach. They are still in a sleep state although their eyes might be open. And apparently you should not try to wake them, move them or actively sooth them. That can increase the anxiety and lengthen the time of the ‘terror’. The best course of action advised is to allow them calm themselves. So on the fourth night when Uisneach began to scream we stood quietly just outside his door and sure enough after 2 or 3 minutes he was sleeping soundly, snoring away. So fingers crossed it doesn’t develop into a big issue.
We also read that it can be triggered by sleep apnea and as it happens Uisneach is being investigated for that. The sleep centre in Crumlin Childrens Hospital actually sent us out an oximeter to measure his oxygen levels while he sleeps just a couple of weeks ago and he has an appointment scheduled with the airways consultant in November so hopefully we will get more answers then.