Little Miss Diagnosis
They say diagnosing girls with Autism is often a long journey. Yeah, no kidding!
Get comfy, this one is a long one but it’s kind of necessary - and honestly, this is the edited version! It sets the scene of our diagnostic journey, and is a perfect illustration of how hard it is for some people, especially girls to get an autism diagnosis.
I promise I won’t write any other posts this long in the future - it’s been biblical trying to capture this five year journey in one post, but maybe does demonstrate that our journey to diagnosis has not been a simple one. Like most, it has been fraught with complications, swerve balls, challenges and oh so many dead ends.
We didn’t start our diagnosis journey with any form of developmental delay or concerns about milestones; there were no ‘symptoms’ or even a ‘gut instinct’ like many people have - you know, where they just know something isn’t quite right. But when I look back now with all I’ve learned, there were signs that I really didn’t pick up on (and feel I should have known better). Perhaps I would have spotted them sooner if I’d known then what I know now about autism, but that’s parenting all over though isn’t it? Hindsight is a wonderful thing.
What is incredible, is that without this seemingly endless winding mess of what could be unrelated problems, Miss A would likely be flying under the radar, treated as a neurotypical child at school, and maybe going un-diagnosed for the rest of her life, thanks in part to the training we all receive to ‘fit into societal norms’.
So, here goes…
What Started The Ball Rolling
One day, when little Miss A was just three years old, she woke up and couldn’t walk - she just couldn’t put one foot in front of the other, it was like someone had come in the middle of the night and fitted her with invisible lead boots. Our cute, smiley, and generally healthy little girl was being gripped by something awful and we didn’t know what it was. She’d only been walking for a couple of years as it was, but suddenly, she was unable to do so.
Panic and worry set in pretty quickly and she was soon being whisked away by us to be seen by her GP. The GP reassured us that this was something that happened to little kids on occasion - Toxic Synovitis (a common cause of hip pain and limping in children).
I’d never even heard of it, but we were reassured - she’d just had a bout of Tonsillitis so it made sense for that to be a trigger. We were told that in 24 to 48 hours, she’d be getting back to her old self, it certainly shouldn’t get worse or stay the same. At the very outside it would last a couple of weeks. But Miss A had other ideas and she’d prove that very wrong!
We anxiously waited out the 24 hours advised but she was still no better, and if anything, she was worse. We returned to the GP who sought a second opinion, but that increased the concern, and after some debate it was decided that she would be sent to the Royal Children’s Hospital for further investigation.
We thought it might be a few days - but that investigation literally took years. A constant barrage of teams of doctors and too many tests to remember.
The Investigation Begins
My poor ‘shy’ little Miss A was bombarded with needles and blood tests, neurological examinations x-rays, MRI’s (yes, more than one), ultra sounds, scans, strength tests, requests for her to walk, prodding and poking… the list seemed endless. The doctors were trying to rule out all kinds of nasties; everything from Septic Arthritis to Cancer. It was so damn scary for us, goodness knows how she must have been feeling.
If only we’d known then what we know now.
We spent about a week on the children’s ward initially, while the medical team plodded on with their long list of tests and investigations. We were no nearer to getting to the bottom of what was causing her this pain, discomfort and inability to walk. But the doctors had at least ruled out the ‘big stuff’ and so it was deemed safe to take our little bundle of joy home with a caveat that if anything changed, if she had any new symptoms or worsened, we were to return to the hospital ASAP. Not exactly comforting words. This is where the up hill battle really did begin.
The inability for Miss A to walk did improve over the next few days and weeks, but only slightly. She still had an awkward gait, there was still soreness and pain, she still didn’t want to walk much, as it obviously hurt her.
Our previously active, scooter loving toddler was spending her time being pushed around in the pram again (something we had pretty much ditched until that point) or we were carrying her. We were carrying her around the house, lifting her up and down the stairs - which seemed to be the most painful for her, and even to the toilet. This was not good. This was deeply upsetting and stressful, awful to watch and still we had no answers. She was visiting the hospital so regularly that I think we have our hand permanently imprinted on the revolving door.
The medical staff were doing their best to reassure us that it was all going to be ok. After all she ‘only has Toxic Synovitis’ which will correct itself in a few weeks. But the concern was that this diagnosis can mimic serious disease, and distinguishing between them can be really quite difficult and often time dependent. We were like cats on hot bricks waiting for the next symptom, a change in her health, a clue, a recovery.
But that breakthrough just wasn’t coming.
The only medical diagnosis that was almost sticking, but not quite, was Juvenile Arthritis, and the thought of that was petrifying. But she only had some ‘red flags’ for that, so it wasn’t enough to call a diagnosis, and so we sat in limbo, holding our breath and hoping.
We tried to carry on as much as possible, sticking with the same routine as before, just with the added twist of carrying our girl everywhere. Then eventually after several weeks and once she had improved enough, it was time to get back to ‘normal’.
Normality Returns?
After much debate and more reassurances from the medical staff that it was ok to do so, we headed back to kinder. Miss A had began her kinder adventure not that long before; she hadn’t exactly been loving it but had been starting to find her feet (bad choice of words!) and settle in. After all it had been a big change for Miss A who had never really been away from her parents (big shout out to parents doing it with no support system) and this kinder thing was a big adjustment for her. But now we had an added complication of leg pain and stiffness and a big fat question mark over how sick she really was.
Her kinder took all the information on board and were on red alert too, incase of any changes. We packed her off with her lunch in a bag that was far too big for her little body, watched her awkwardly shuffle, crossed our fingers and hoped for the best.
Miss A had only been back at kinder for a few days when the phone rang, and on the other end of the line was one of the kinder staff who calmly explained that Miss A was ‘not doing so well’ but that there was ‘no need for alarm’. They informed me that she had been in the garden and had sat at the edge of the sandpit and was still sitting in the same spot an hour later. They asked what I would like them to do! Would I like to collect her, or see how she goes?
My mum hackles went up, and I was at the kinder door like a rat up a drain-pipe!
I took my girl home, who honestly did not look that great, a bit pale and lethargic, just a bit bleugh. By the time we got home, a 5 minute push in the pram, she looked awful, and before I had even made a cup of tea, she was projectile vomiting everywhere. She had developed a temperature and looked generally awful.
Several panicked phone calls later and we were speedily making our way back to the hospital, heeding the reminder of ‘if anything changes, bring her straight back’.
My stomach was in knots and I felt sick. We were re-admitted to the hospital where poor little Miss A was subjected to another round of tests, and was viewed at from every angle like a prized archeological discovery by what would become an increasingly baffled audience of specialists.
It was all feeling way too scary and overwhelming as it started to become more and more obvious that this wasn’t their usual case. But this round was yet another case of drawing a blank. There were still no answers, all the tests were showing as inconclusive, she still had signs of something, but not enough for it to be something.
Stop The Ride, I Want To Get Off
The revolving door then just seemed to keep spinning. We’d been placed under the watchful eye of a fast growing team of specialists including a Rheumatologist, a Paediatrician, a Neurologist, a Physio, an Occupational Therapist and probably others that I can’t remember. We were having check ups every few days, that then they started to spread them out, firstly to weeks, and then months, and yet as time went on, the picture was getting no clearer. They continued to poke and prod, take blood (she would always ask ‘is this going to be a hurting visit?’ which still pulls at my heart strings), scan her in every way possible, but still there weren’t any answers that were making sense of all this.
It feels like even today, that door still has my handprint on it.
Fast forward 3 more years and we were still on that ride, and Covid-19 had now reared it’s ugly head too, just to make every trip to the Royal Children’s even less fun.
We were advised by the hospital to go into our own lockdown, way before lockdown was even a thing in Melbourne, because at that time, the best guess was she might have Juvenile Arthritis (a immuno-compromising condition), and that we should be extra cautious and protect our girl as much as possible. So amidst all this uncertainty, we added yet another layer of dread to the mix. But Covid or no Covid, the investigations and rounds of appointments continued as we kept looking for an answer.
She was having so many episodes of pain and other complaints that I started to write in a diary to keep track of all. We were such a long way into this journey and yet nothing seemed to be getting any better at all.
Was It All In Her Head?
After many more months of investigating, The Paediatrician dropped a few hints that perhaps the ‘pain’ she was experiencing was more psychosomatic and maybe we should be exploring that side of ‘pain’ for Miss A.
I didn’t disagree, after all the explorations, not one diagnosis had stuck, but I also didn’t really know what that really meant. Was she making it all up? Was it all in her head - that there is nothing wrong with her at all? Was this the hospital trying to close this mysterious case they couldn’t solve? Maybe they think we’re overprotective parents who are making something out of nothing?
We were then referred to another group of medical experts; this time what they called the Pain team - a multidisciplinary group made up of Pain Medicine Specialists; Psychologists, Physiotherapists, Occupational Therapists and a Child & Adolescent Psychiatrists; their job collectively to assess and treat children who are experiencing persistent or chronic pain. So whilst some of these specialists were already across Miss A’s case, this was a slightly different approach, collaboratively working together, cross referencing their work. That did feel a step forward at least, although the feeling of it being another dead end was strong in us. This had now gone on for about 4 years.
Their verdict (it did feel a little like we were on trial, being judged by this point) was that she was indeed experiencing pain, and more-so, it was deemed that she had chronic pain, and was diagnosed with CRPS - Complex Regional Pain Syndrome, something that usually affects one arm or one leg. It typically develops after an injury, a surgery, a stroke or a heart attack (and for Miss A, possibly after her bout of Tonsillitis). The pain is out of proportion to the severity of the initial injury itself, so it felt like a lightbulb moment, it all made so much sense with all we’d experienced with her initial leg problems.
Or so we thought.
The pain clinic recommended that Miss A be put on some pain blocking medication, something to help re-wire her brain regarding how it interprets pain. So we followed their lead, and we tentatively put her on the medication. Almost instantly it seemed a small miracle had occurred - she was like a different child. Our girl was suddenly almost pain free. Soon she was walking distances that she’d not been able to in forever, she was scooting again and learnt to ride her bike - a milestone we never thought we’d see. She hardly ever reported pain in her legs and the journal that I was using to record her numerous daily reports of aches and pains was now looking less full (a weird, but great feeling). We couldn’t quite believe it - it was almost too good to be true. This little bottle of medication gave us a new lease on life and Miss A started living a life like most other kids her age.
The Twists and Turns Continued
I’d love to say that that is the end of this very long tale - but clearly, with what we now know and this revolving around Autism, pain blockers were never going to the be the end game.
Little Miss A just kept on giving more and more confusion, baffling both us and the team at the Royal Children’s. She had massively improved, and yet there was still much that left us wondering if they’d got this diagnosis wrong - that pain was not the root cause. New aches and pains were creeping in for sure, in her arms, her hands, the wrists, the ankles, headaches, but there were also now blurred vision and dots and auras, stomach pains (that led us to a lactose test and an intolerance diagnosis) a lack of energy, and the baddest of moods on a regular basis.
But we plodded on, navigating and circumventing and pre-planning for dealing with pain. We adjusted our lives to allow for her inability to sustain her energy, for her not being able to walk far, for her to not want to join in because of the pain. We made so many adjustments that we forgot what adjustments even were, and they just became our daily norm. Daily life was a real struggle when comparing Miss A to her peers at school.
Life just seemed to be so much tougher for our little girl.
We constantly questioned whether much of her behaviour was within the expected normal range - all kids are different, and maybe Miss A was just much shyer or more reserved than her outlandish big brother.
Being led down the ‘pain’ path by the Hospital meant the our perceptions of how we viewed Miss A were very warped. We justified her lack of wanting to be involved in group activities with other kids because of her pain - she was tired, didn’t want to engage, couldn’t sit still at school because of her pains, it all made sense in our heads at that time.
But as time went on, we were starting to struggle to get her to leave the house at all, and if we insisted, it resulted in a full meltdown - screaming, crying, uncontrollable emotional outbursts.
It was almost like her anxiety had become so incredibly overwhelming, that leaving the house - even to do things she liked to do - was so exhausting and uncomfortable for her. It somehow got to the point that it was totally debilitating both for her and for us with even the simplest of daily chores.
One Final Approach
The Paediatrician saw us again, following a total meltdown whereby I was just at a loss of knowing what to do to feel like we’d solved this, and soon we are yet again sat discussing Miss A’s endless list of symptoms, now a huge catalogue of issues since those early days of her simple leg pains. And many not appearing to relate to pain at all. The Paediatrician openly admitted she was at a loss of knowing how to solve what she now called her Little Puzzle.
This time, they decided to take a slightly different approach, with a focus far more on her mental health rather than her physical health. Miss A had a few months with a Psychologist, and then, almost out of nowhere it was alluded to for the first time - that maybe she should have an assessment for… Autism.
It was a breakthrough moment for all involved.
I have to say that at this point, this wasn’t a total shock, because I’d been trying to make sense of all this for so long, reading up about anxiety, meltdowns, sensitivity to criticism and maybe most importantly, how pain is perceived, some of this stuff was starting to stick.
The pain Miss A had endured didn’t immediately seem to be relevant, but I now know that for some Autistic people, the way pain is perceived can be very different from a neurotypical persons perception.
What I had read about girls and Autism was starting to make far more sense with regards to Miss A. There was no big indicator, no really clear signs, but when we started to join the dots it all started to come together.
Almost at exactly the same time, the Paediatrician, the Psychologist and I all seemed to align, with this ticking possibly more boxes than anything we had explored in the past, and we lined up the assessment - in itself a hugely challenging process (I’ll probably write a post about the process of the actual assessment at some point).
So as I’ve said before, with hindsight, it’s really clear now that Miss A was always autistic. The real journey is the one we’re on now - the journey of discovery.
Thank you for sharing your journey with Miss A. Your story is a powerful reminder of the ups and downs we face when trying to understand and support someone we care about. It's easy to look back and see signs we missed, but your dedication and love are undeniable. Miss A's experiences highlight the need for better understanding of autism, especially in girls. Your perseverance is super inspiring, and your insights will for sure resonate with and support many others navigating similar paths.