Our story began on 22/07/10 when our gorgeous little girl Jasmine Rose entered the world. Immediately she was an entirely different baby to our first child Riley. Not unusual we thought, I mean Riley was a dream baby after all. Yet Jasmine was so unsettled sleep wise and just in general really. She had reflux almost the whole time between feeds and seemed to always want to be held or on the move, it was exhausting at times.
When she was just over a year old she said “da da” but yet a few months later she had stopped saying this altogether. She had also not met some milestones, she wasn’t sitting up unaided and wasn’t attempting to crawl/reach for things. Instead she preferred to lay on her back and flap her hands or rather have us waft things over her face and play peekaboo etc – all seemed pretty normal things on their own it was only later when we now look back when the tell- tale signs were there.
I got an appointment with the paediatrician when she was roughly 18 months old after googling “autism” as I was convinced that was what she had. When the day of the appointment arrived, I was excited in a way to maybe get an answer, a reason, a diagnosis I could label her to tell people when they asked, that was the day my world fell apart.
The Doctor made Jasmine do some little things and watched and then at the end said she had global developmental delay (in other words a catch all for no clue) and childhood autism (like she’s going to grow out of that one) but then she said that she had slight dysmorphic features and she thought she had something else possibly downs syndrome or Cerebral palsy or maybe something else. She also said she had microcephaly.
I took none of that in through the copious amounts of tears running down my face whilst she continued to talk to me. From here she then put her into the DDD study and she had a number of tests (blood/urine and MRI and EEG) She got the Portage service and physio and speech and language, and all sorts of appointments and other agencies involved.
Fast forward about 5 years and we get the results that she has DDX3X. That sounded like some cool superhero status and after all that time we were relieved to have a name for it. We were further relieved to know we hadn’t passed it on to her and it was an error created by chance in her DNA, although saddened to discover there was literally no info about this new syndrome only discovered in 2015.
So, after mourning the loss of the child we were now never going to have, we learned to accept Jasmine for who she is because who she is one pretty determined, amazing little girl with a smile that can melt your heart and a giggle that can’t help but make you smile even on the darkest of days. She can dance (in her own weird bambi type way) she adores music and loves water and anything outside. She can do loads of Makaton signs and also now uses a tablet as her communication aide. She goes to a special school full time, she loves her food, her sleeping has improved tremendously, and she has the energy of a Duracell bunny. She is one amazing DDX3X supergirl.
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