There is nothing more exciting than expecting your new baby.
Pregnancy was not great. But it was expected. My first pregnancy resulted in an emergency caesarean section so I didn’t expect it to be a walk in the park the second time around. I had polyhydramnios, which leads to too much amniotic fluid around the baby. But in our case, there was no known cause, so Isla’s birth was planned to be a caesarean too. She didn’t want to wait though, and came three weeks early, naturally, on Halloween. Born at 37 weeks she was considered full term and other than a little jaundice, Isla was presented healthy, and so four days after she was born we came home. Finley doted on Isla from the onset and so life started as a family of four.
Then things started to get hard quite quickly and when Isla was just a few weeks old, she struggled to go to the toilet, becoming increasingly miserable because of it. I’m not an overprotective type of mum, but something always seemed off, even as young as a few weeks old. We ended up on medication for constipation by the time she was six weeks old, over time we tried different milks, diets, but nothing really worked and she was just always grumpy. So much so that I’d spend much time stressing about toileting, and feeling so depressed that it wasn’t all bows and pretty dresses and the baby I planned for.
I hadn’t even realised she wasn’t hitting milestones. Smiling, sitting. It came – just later. Slower. It was exhausting. She’d go from smiling to screaming with the flick of a switch. I’m not sure what was harder, Isla, or putting on a pretence at baby groups that everything was rosy. Truth was it was far from that. She was hard work. I was struggling to enjoy her. She didn’t engage; I felt I was getting nothing back. We got referrals to dieticians and gastro teams but I felt I was going mad being told, ‘oh it’s just a bit of reflux’, ‘you’re bound to worry’, ‘well try this…’ ‘are you doing that?’ ‘She’s growing well, I wouldn’t worry’. This went on.
Then we had the 12 month check with our local health visitors and my worries were confirmed as Isla’s development raised concerns with them too. I wasn’t going mad. This was real. My baby wasn’t doing what was ‘typical’. ‘She’ll do it in her own time’ – If I had heard this once, I had heard it a million times. And I think every special education needs parent would agree these are the worst words to hear. Especially when it’s at a play centre from another parent whose child is enjoying their time climbing the slides and not rocking in a corner because it’s too loud and the latch on that gate is more entertaining.
Her behaviour was also not great at this point, she was getting frustrated. She wanted to do things, her brain just didn’t want her to. We later had brain scans that came back clear – of course. Something inside her didn’t, and still now four years on, doesn’t want her to make these achievements. She’s now more content, strong willed, but funny in her ways. Just after her first birthday we had our first appointment with a children’s paediatrician. Straight away this doctor knew there was ‘something’ going on. He pointed out some behaviours, medical things that needed to be investigated and I left optimistic. I’ll always remember that first letter I received. The write up from that particular appointment, reading the words ‘dysmorphic features’ – I was mortified. Now it’s obvious. She is beautiful, she’s my daughter. That same letter referred to genetics and it was all the proof I needed to know there was just something. And we got appointed a genetic doctor at our closest children’s hospital. I guess it was my gut instinct but I just knew. That’s when my research started. I found all sorts. Dr Google did a thousand self diagnoses but it did bring me to the world of syndromes and an understanding of genetics.
CHALLENGES AND POSITIVES
Isla has significant global delay, she’s currently hitting milestones around a two year old level, she has limited speech, and her words aren’t clear, but it’s coming – Isla speed. With hypertonia we were told she would potentially never walk but around her second birthday she took her first steps, although wobbly, there’s no stopping her now. She is very sensory and has typical autistic tendencies although no diagnosis yet of that either. She has absence seizures. We finally got somewhere with gastro teams and are awaiting a biopsy, but guess what? No findings yet. Her kidneys don’t function properly. She has ‘dysmorphic features’. Her tongue is always out and she is very drooly. She hates sleep and bedtime.
But all that aside she’s amazing. She’s funny – hilarious actually. Strong willed. Determined. She loves music and being outside. Her understanding has improved dramatically and so day to day life has become less strained and more enjoyable.
I found the amazing SWAN (syndromes without a name) charity, and we became part of the community. Our new adopted family. They understood. None of our children had a diagnosis, we were either waiting for results or results drew back blanks. In the background, life had got hard. I had stopped taking Isla to groups, she was by now, so obviously delayed and I hated to keep explaining. Why should I? If she hit milestones I wouldn’t have had to justify her behaviour but the support from everyone at SWAN was amazing. I got out and started to feel accepted. I didn’t care if people asked questions or Isla lashed out in frustration – she was trying to communicate, it was her only way. With the support from other families through SWAN I learnt it was ok to be different and that living without a diagnosis wasn’t all negative and that hopefully one day our diagnosis would come. Well, it still hasn’t. We had a lot ruled out after the Deciphering Developmental Disorders study showed no abnormalities. At first Pitt Hopkins was mentioned – but now has been ruled out through the study. We are awaiting the Whole Genome Sequencing, and in the meantime Angelman Syndrome has been specifically checked for. Isla ticks a lot of boxes and so not a lot to point to anything specifically at the moment.
We are hopeful that our genetic diagnosis will come. There is one out there somewhere. But right now Isla ticks a lot of boxes of separate syndromes to allow a clinical diagnosis so we await those scientific results and keep everything crossed that one day we’ll get answers. It would just be closure, a reason, explanation. And if it doesn’t. That’s ok too. We aren’t alone. All the SWAN families prove that and our little swan will continue to surprise us as she makes progress – in her very own little way and I can’t wait to see where life takes her.