It’s hard to pinpoint exactly when our undiagnosed journey began. On reflection it was from pregnancy, but I’ve only realised that through hindsight.
You see, my special boy was born prematurely due to me having pre-eclampsia and it was only on my admission for this condition that we found out that Arthur was much smaller than he should have been. He was born by emergency caesarean section at 35 weeks old and weighed just 3lb 6oz. He was so tiny and was whisked away to the Special Care Baby Unit (SCBU) to be monitored. I remember the night nurse coming on shift and kindly bringing me a photo of Arthur to keep at my bedside. The next morning I walked to the Special Care Baby Unit (probably not the best idea after the caesarean) as I was just desperate to meet my baby. Arthur spent 18 days in the unit, and then we were discharged home. I remember asking the doctor whether we needed to monitor his development for signs of disability and I was reassured that he would be fine.
For a long time I held on to those words ‘he will be fine’. However, deep down I knew, even though he was my first baby, that things weren’t fine.
Weight gain was always a struggle, but then when he started learning to sit up, I just knew something wasn’t right. Family and friends dismissed my concerns, telling me that babies all learn at their own pace. That was always so hard to hear as I just wanted my concerns to be heard. When Arthur was nine months old we were referred to a community paediatrician and for months we were told he was just a lazy, premature baby. Inside I remember just wanting to scream that I knew something was wrong, but of course there was also part of me that wanted to hold onto the idea that he was just lazy and learning things later than usual. Eventually, at around fifteen months old, Arthur was confirmed as having learning difficulties. I always assumed we would get a diagnosis for the reason behind his learning difficulties, however no identified source has been found despite being on the 100,000 Genomes Project and Deciphering Developmental Disorders (DDD) study for over five years now. Our boy is just too rare and special for a diagnosis.
Arthur is now nine years old, but cognitively he is more similar to a two or three year old. He has autism, lots of gastrointestinal problems (so tube fed), is completely non–verbal (but uses a computer voice for requests) and is generally quite medically complex (he’s spent more than four of the last 15 months in hospital). In many ways I have given up on gaining a diagnosis, however it can be very frustrating when Arthur doesn’t tick a professional’s box as his diagnosis is unknown.
Although Arthur has tremendous difficulties he is a happy, loving boy, who adores Mr Tumble, Singing Hands, zoos and playing ball with his younger brother. Of course there are times when he gets frustrated that his body hasn’t got the strength to do what he wants it to, or when he can’t get his own way!
I think I was on google trying learn more about undiagnosed genetic conditions when I came across SWAN UK, and decided to become a member. Over the years it has become a group that I find offers tremendous support.
The undiagnosed journey can be lonely as the support systems just aren’t in place as they are for those with a diagnosis, so belonging to a group of people who are on similar journeys and understand your thoughts and feelings without judgement is quite literally a lifeline.
As well as getting support, I learn from others in the group. Being undiagnosed can be a bit of a rollercoaster, but I know that SWAN UK is here to ease the journey.