Stories and media The difference we make Alannah's story Alannah is a normal teenage girl (pictured above) who sometimes loves, sometimes hates her siblings, always loves her dog, loves to do yoga and hates to do reading. She happens to have a chromosome deletions - 22q11 deletion syndrome - which has led to a number of medical, educational and social challenges for her. She was 4 months old when 22q11 deletion syndrome was diagnosed as a result of a critical cardiac situation which required urgent surgery. As part of the 22q11 diagnosis, there were a list of ‘things that could go wrong’ which we were to either get checked out at ‘now!’ or else were matters that we would have to wait and see as things developed. Kids with 22q11 deletion quite often have issues with their palates and hence that was one of the ‘check now’ things on the list as it had the potential to be dangerous for her. First step was something called a video fluoroscopy barium swallow. Alannah was around about 8 months old at this point and as we were trying to get weight on her, we had been advised to start her on solids as soon as we could after the heart surgery. This must have been one of our first trips to Great Ormond Street and our first meeting with the wonderful Debbie Sell and Lauren Rost-Wood (now Baillie), both of whom we would get to know well over the years. A video fluoroscopy is basically a moving, sideways on x-ray. Alannah had to eat chocolate mousse laced with barium, and whilst she was doing so, Debbie and Lauren watched the moving x-ray. The x-ray could identify the barium going through Alannah’s throat and in that way could check whether her swallowing ability was safe or not. From what I recall, not a particularly fun experience, but not the worst! The experts gave her swallow an ‘8 out of 10’ deeming it safe enough to continue with feeding without any adjustments. That was good news. Alannah did not have any visible lip or palate abnormalities but at this stage, we did not yet know whether she had any hidden abnormalities, but occasionally seeing food / drink coming out of the nose was making us feel that it was likely. She was slow to make any speech sounds but when she eventually did, they were very nasal. This also pointed towards the possibility of palate abnormalities but this could not be fully tested for until Alannah was making a reasonable range of sounds. She did have some input from our local NHS speech therapy team at this stage but it was around feeding textures (she also had reflux) and gradually moving to more solid food, rather than on speech itself. From April 2009, we decided to add some top up private speech therapy as we felt that there was a risk of Alannah suffering socially at nursery as her limited speech was at that stage, still quite unintelligible to those who didn’t know her. May 2009 (Alannah was just 3 years old), and the time came for a speech based video fluoroscopy, Alannah had to attempt certain sentences (‘Daddy mended a door’ was a favourite of ours because Daddy would never mend a door in our house!), again on the moving x-ray and also in a clinic room with Debbie. At this stage, we were also seen by a cleft surgeon. Combining speech notes, physical examination and the x-ray evidence, the conclusion was that Alannah likely had an occult submucous cleft palate (in other words - well hidden!) and that as a consequence, her soft palate was not lifting fully to connect with the back of the throat successfully as is necessary to make nearly all speech sounds. Alannah has low muscle tone (common with 22q11 deletion) so her muscles are weaker - including it turns out - the muscles of her soft palate. The muscles were also wrongly aligned, being at an angle to the centre line of the palate rather than perpendicular. None of this was helping her make the ‘normal’ speech sounds and we were starting to get clearer on why she sounded so nasal, why she couldn’t consistently make any of the ‘plosive’ sounds like b, d, t and why others sounded ‘glottal’ (very throaty). It was a relief really to finally have some evidence that we could act on. The video shows Alannah at home in 2009. Alannah had her first surgery on her palate on 19th June 2009, when she was just over 3 years old. This first step was to move the palate muscles to try to help it lift and achieve better closure with the back of the throat all rather than just some of the time. Surgery was relatively straightforward although rather uncomfortable for a young girl and she was obviously unhappy about things for a few days following. We gave Speech therapy a good break over the summer of 2009 and were back on it in Autumn 2009. September 2010 and Alannah was starting first year of primary school but was still pretty hard to understand in terms of her speech. Speech therapy helped to some degree but we were beginning to wonder if this was as good as it was going to get. Alannah in 2010 Fast forward to December 2011 and a review with Debbie. Another video fluoroscopy plus nasendoscopy (camera through nose to look at the throat) and the conclusion was that Alannah still had residual nasality and that the palate was not achieving full closure all of the time. There was another surgical option which we then proceeded to explore with Debbie and the surgeon. This was something called a Hynes Pharyngoplasty. Essentially, this was to build a sort of speed bump on the back of Alannah’s throat, to reduce the gap between the end of the soft palate and the throat, thereby hopefully making it easier to close off. Good consistent closure = good speech sounds, and this was our aim. It was not without risk…. get the size of the speed bump wrong and it can interfere with sleep, she was likely to go backwards in terms of speech sound production before she went forwards, and would still need a lot of speech therapy, but…. Alannah had the Hynes Pharyngoplasty operation in September 2013. Not much fun once again and took a few days to recover. Again, we had a break from speech therapy for a while and then back to it…. both at school and topped up at the weekends from home. Slowly but surely, Alannah’s sounds became more consistent and it was clear that the palate was more successfully closing off fully at the back of the throat. The glottal and the nasal sounds gradually disappeared and Alannah’s speech became much, much more intelligible. At a clinic in April 2014, Debbie said the words I thought we would never hear, that Alannah’s speech was now ‘within normal range’. Alannah in 2014 We have immense gratitude for the surgeons and speech therapists who have contributed to Alannah’s care over the years. Her journey may not be done yet. As she grows and the physiology changes, it is possible that further interventions may be needed, but for now, we are grateful for every beautiful utterance that comes from Alannah’s mouth, even the shouty teenager ones.  Dr Debbie Sell has been involved in a study looking at a new method of speech therapy called Parent Led Articulation Therapy (P.L.A.T). The study is currently being trialled by a research project part-funded by CLEFT, the Cleft Lip and Palate Association of Ireland and the Temple Street Foundation (Ireland).