Sadie is a cheeky, smiley, very photogenic girl with flaming red hair and a temperament to match.
Her developmental problems were noticed in the womb in late pregnancy (just growth issues and a tiny bit too much space in her brain), but not identified until 5 months old when doctors finally realised she was having regular fits called infantile spasms, a rare form of epilepsy that is hard to diagnose. It became clear that her development was very delayed as she was late to hit every milestone and some she didn’t hit at all. Over time she has been diagnosed with or treated for epilepsy, severe learning disability, non verbal autism, reflux, constipation, hayfever related pruritus, anxiety, hyperacusis/misophonia, scoliosis and she has difficulty with mobility and balance, eyesight, and sensory sensitivity. But we didn’t get her full diagnosis of de novo DDX3X gene mutation, which appears to have caused all these issues, until last year when she was nearly 14.
In terms of everyday life, Sadie attends a special school and has overnight respite care for 26 nights per year. She is able to walk but we use a wheelchair most of the time as she is not very safe and often refuses by sitting down, and is too big to argue with anymore! She loves swimming (basically standing in water and splashing), soft play ball pools, fibre optic lights, being out all day (staying in is not an option), cafes, buses, trams, and familiar routine. She can’t talk but uses a mixture of photos, screaming, tapping herself (she never took to signing and only recently learnt to wave) to communicate some basic needs/requests. I’m trying to get her to use an ipad to communicate but this is a full time job and I already have a full time job!
Although her issues are clear and she is at the more severe end of learning disability, I am constantly surprised by how much I have to fight to get help and support, and how difficult it is to find and access services. My advice to others is to write letters or emails rather than phone calls or appointments, as it is difficult to talk about things on the spot whilst dealing with a truculent teenager with special needs! It also provides a paper trail. Diaries of problems are good too, although a pain to keep up to date. I’m now taking to copying all professionals involved into everything, as the root of an issue (such as weight loss) can be difficult to pin down. Professionals currently involved are paediatrician, neurologist, CAMHS clinical psychologist, speech therapy, orthotics, physio, OT, specialist dentist and gastroenterology, and we are soon to have our first visit to the delightfully named ‘spinal defects clinic’.
My frustration at lack of support and progress in some areas has led me to fundraise/self-fund to pay for childcare and an ABA tutor, and I’m currently trying to buy a wheelchair as our wheelchair provided by the NHS is not fit for purpose. I also got a secure travel bed from a charity without which we would have to stay at home. The ABA tutor is helping me work on supporting Sadie with communication, independent skills (such as self feeding), and reducing undesirable behaviours like hair pulling, biting, self harm (usually head banging), and high pitched screaming. It’s great to have someone to help with this, as I’ve just been dealing with it on my own up until now, and it’s a lonely life. (I’m a single mum with another older child, and I work full time as a teacher, so self-care is barely on my list!) I’ve also joined many relevant groups on Facebook and in real life to help break down that loneliness. I found it difficult to join things locally because of her behaviour around other children, but it was worth persisting as I’ve found a good Saturday group and we both enjoy it there. If all the support was just online it wouldn’t be enough for me. I was also lucky enough to attend the first UK DDX3X meet up shortly after getting the diagnosis, and that was an amazing and overwhelming experience on every level!
Not every DDX3X child/adult has the same issues but there are lots of similarities, and it’s really good to talk about things with people who just ‘get it’ without explanation or pity. Welcome to our family!
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