“So many emotions were surfacing and making it all so overwhelming.” -Amelie’s Story

On the 21st of March 2016, I birthed our pink bundle of joy: Poppy Willow. She was the most chill and most alert 3 and a half kilos baby girl with her grey eyes already wide open to the world. All the professionals involved in her care called her the unicorn baby as she did not cry. Her sounds resembled more the soft calls of a kitten, she latched instantly and she slept like a charm from day one! A magical start.

Apart from terrible reflux after my milk came in and contracting thrush which put an early stop to breastfeeding, it was all smooth sailing. She did come across as a very chilled (some even called it lazy) baby who took her sweet time to achieve her milestones, but she was ultimately one of the smiliest most content children there was. Social, cuddly, babbly, adorable… The rest seemed completely irrelevant – until it wasn’t.

She did have great difficulty swallowing anything lumpy in solid food and gagged/vomited often until roughly 14 months old. She was indeed a late crawler; a week before her 1st birthday. Her language, too, was coming along very, very slow. Words would be said once and never again. For a very long time, she could only say ‘Dad’ and ‘hey’. ‘Mum’ came later, followed by ‘yes.’ She wasn’t pointing at things nor really waving. She was mouthing everything… but who cared? She was clapping joyfully, playing peekaboo enthusiastically… Her giggles were priceless and heard every single day. She could build a tower in blocks, adored music and the theatre, loved to read herself book after book and even to paint or draw. She even could push herself through the room on a rocking horse like a crazy cowgirl! I felt like she was doing great anyhow – apart from not using her feet much and showing no interest for walking. 

We only started worrying when she turned 16 months and there were no signs of standing, cruising nor anything else. We would help her stand up and her legs wouldn’t support her at all. Her ankles seemed to be the struggle (or so we thought at first as they seemed a little bendy) and she was also a little chubby, but it all changed when in the same week, a friend and a stranger met in a soft play area mentioned the possibility of hypermobility. I had started worrying a little myself as all her friends of similar age were already on the move or at least interested in pushing themselves up to grab things, climb, push a walker or a stroller… Meanwhile, she was the fastest crawler around but totally unable to stand! So, I took her to the baby clinic and they assessed her briefly, then told me to come back in a few months if she hadn’t made any progress. It planted a seed in my mind – a tiny, little seed that something was wrong with my perfect baby girl. That’s when I suddenly got postpartum depression, after 16 amazingly perfect months on cloud nine – even though back then I was in total denial.

I had always thought she’d eventually catch up and I was being overly dramatic about it – though better safe than sorry, right? But when at 19 months she still hadn’t, my anxiety had spiked dramatically. I went back to the baby clinic and burst out in tears when they turned us away. They sent us to the general practitioner for an emergency appointment. I hadn’t gone back there because when she had reflux, I called them worried sick every other month and they did nothing. They kept sending us back home saying “It’s a tummy bug” or “She’ll grow out of it.” She suffered through it all her first year and beyond – so I didn’t trust them. This time, we (finally) got taken seriously and referred to the pediatrician. Coincidentally, the moment we started seeking help was also the time when the black cloud over our heads got denser…

It shouldn’t have been this stressful. But getting the appointment was one thing, attending was another. It kept getting cancelled and pushed back. Poppy wasn’t improving and my mental health was deteriorating. To the point I started biting my nails again, I also had trouble sleeping because of the many intrusive thoughts that wouldn’t leave me be. It was all I could think about: why can’t she walk? Or cruise? Or stand up? Why hasn’t she got any balance? Do her feet look bent? Am I putting the wrong shoes on her? What am I not doing right?! My mind was in constant overdrive and (as a mother but also a childcare professional) the guilt I felt kept growing and weighing on me. 

The months went by and we finally were seen by the consultant when she was a little over 2. Standing was still very wobbly. She had attempted a few steps but still wasn’t able to walk nor had the confidence to cruise. The pediatrician filled up a questionnaire and that’s when it all started to become real – in a bad way. There were issues, alarm bells. It wasn’t an easy ride anymore: “Lack of progress and regression.” These words cut deep. We were forced to admit that we were in trouble. She wasn’t meeting as many milestones as she should have. Something was amiss and she would be reviewed again every 6 months. They referred us to various specialists, for speech and mobility. Orthotics, physio, audiology and many other therapists… Navigating the health system slowly took over our life. It was the start of my decline.

At her next development review, she had started walking (wide stance, wobbles and many falls) but language had totally gone, replaced by screeching. Her play skills started vanishing. We also had to start over with potty training. Night terrors had surfaced as well as random panic attacks. She hated places that she used to love, people she used to interact with would make her cry, toys she used to enjoy would set her off… As parents, not being able to help her, not knowing how to be there for her nor what to do with her was the hardest. It started driving a wedge in between her mom and dad. Fear, doubts, helplessness… So many emotions were surfacing and making it all so overwhelming. Could it be autism? Even with her amazing eye contact and the way she loved to cuddle? No one had answers. She was sent for more tests: brain scan, blood, urine… I attended most of it alone and resented him, my partner, for it. I felt unsupported and more alone in this than ever. Then came the phone call, the one that drowned me: “Would you consent to have her tested for Rett Syndrome? It’s a specific genetic mutation, very rare, but just to rule it out?” I Googled it – and I instantly knew. 

Of course part of me didn’t want to believe it, even though she ticked almost all of the boxes (apart from epilepsy and scoliosis). Her dad kept telling me not to worry before it was actually happening but my brain wouldn’t listen. The anxiety was eating me alive. The depression had swallowed me whole, I was in too deep. I was also terribly angry. I blamed myself, him and also the whole universe for the suffering of our pure and innocent child, all the challenges she was facing… Why her? Why me? Why us? WHY? I gave all my energy to try and pretend it would be okay, smile through it, lift her up, be on all fronts, fight all the battles… But it was too exhausting and everything was still very much falling apart. I was failing, trying to attend to everyone’s needs (but my own) and be on every front. The tension at home was unreal. Poppy was at the peak of her struggles. Sleep was a distant memory for us all, as was real happiness. Most of the fun seemed to have been sucked out of our lives. I pushed her dad away…and he left us. We were planning a wedding after an 18-month long engagement. It all ended abruptly. Our family broke apart and I hit rock bottom.

I finally got help (antidepressants) when I admitted I wasn’t coping instead of building opaque walls around my failing heart and crumbling brain. Although medicating wasn’t working for me, it all clicked back together with self-care and counseling. By helping myself to thrive, and opening up to more support, I was able to help my daughter do the same. Having neglected my own health by worrying so much about hers, I had almost lost it all and it was such a painful revelation. Getting the spark back in my body rekindled the flame that we had let die. Her daddy and I got back together, stronger than ever, and once we found our way back to each other we knew we would be ready to face any diagnosis. 

We got it six long months later. Rett it was indeed. We were prepared for it but still hopeful that my gut feeling could be wrong. It left us in shock. As much as we needed answers, it was the toughest one to get. Our daughter was disabled and her whole future took a turn for the worse…

We had just found out we were expecting our (much wanted) second child – I was 7 weeks pregnant – but celebrating seemed wrong. It was hard to find how to shed a positive light on it in those circumstances. With the hormonal imbalances, the fatigue and the recent news, I was quickly offered help to cope with post diagnosis anxiety/depression. We were sent to see a genetic counselor, which was one of the most awful experiences we faced (as if our journey through the health system hadn’t been crap enough!). Of course, we were recommended all the tests (amniocentesis, blood, etc) and explained of the risks (miscarriage, %, and statistics…) We tried to remain optimistic but the very insensitive Dr left us speechless when he said back, “Raising one child with Rett is hard but two would be much more a burden to bear.” We left the hospital feeling defeated and sorry for ourselves. There is no other way to spin it: post-diagnosis depression hit hard. 

For a while, we were in sort of a thick fog. I cried, a lot. Every time I looked at our daughter and thought about all she would have to endure, I felt powerless and my heart broke in my chest. Talking about it was too hard. Our feelings were all muddled up. We felt a little lost, but we now knew what to do and what not to do. So, we built ourselves up and gathered strength as well as surrounded ourselves with our support system. In between getting Poppy more help and bringing a new life into the world, our plates seemed constantly full and there was no time to waste. Eventually, we made a point that we weren’t ever going to let it bring us down. She was still undoubtedly our perfect baby girl and we would give e-very-thing we had to give her the best life! 

It’s still very much a work in progress – but eight more months down the line, we are happy to report that we’re getting there! We ended up getting married and she was the cutest flower girl. It was about damn time as her baby brother is just about to make his entrance to complete our – once dysfunctional, now simply atypical in the best kind of way – little family! Life is unpredictable and it did throw us a huge curveball, but ultimately we decided to turn it into a boomerang and have loads of fun with it. At the end of the day: life is what you make it.