When Joshua made a surprise entrance to the world at only 28 weeks gestation and weighing a fabulous 1lb 11oz I knew that my entrance into motherhood would be more of a rollercoaster than I originally thought.
During our time in special care waiting for that magical moment when we could take our precious baby home there were all the usual ups and downs with a premature baby but we never faltered in our hope that the end to all his struggles would one day come and we would be a normal family. Then the magical day – home-time finally arrived. Okay he was still on oxygen and 15 different medications but we had our boy home we had reached the end of that part of his journey. Now all we had to do was wait and he would be off the medication and off the oxygen and normal life could resume. Or so we thought … hoped even.
The weeks and months passed with more time spent in hospital than at home; another desperate 999 call as Joshua struggled for breath in the early hours, again, another late night blues n twos ride in an ambulance, another tracheostomy trolley unrolled before my eyes as I watched my baby become unresponsive in my arms. Another desperate attempt to increase his blood pressure, another intensive care stay – there were so many I actually lost count. Another referral to another service, another hospital, another operation, another “diagnosis”, that awful time his heart stopped and my baby boy endured CPR, another “were not sure if he’s going to make it” conversation and my hopes of ‘normal’, whatever that is, started to fade.
Normal no longer mattered. Alive and in my arms was all that mattered.
All this time in hospital, poorly and ventilated was bound to affect his development. That added to his prematurity, he was bound to be behind. Every professional who came into contact with us reassured me that it was all to be expected.
Deep down I think I knew something more was going on, but isolated and a first time mother I did not trust myself. How would I know?
More doctors appointments, more therapies, more tests, and then came that one appointment that floored me.
‘I want to do some genetic testing. He has a look about him that with his symptoms suggest something might be going on with his chromosomes’.
I was floored. All I knew about chromosome abnormalities at this point was Down’s Syndrome. I shouldn’t have worried, I was soon to become a self taught expert on the matter, but at that point I was floored, flabbergasted.
They also diagnosed Joshua with Autism shortly after this. I had a diagnosis! We fitted into a box, I could meet loads of other parents who had children with Autism … we would fit in somewhere … we would find our normal.
But as hard as I looked, I could not find another child that was like Joshua. I know the spectrum is wide but he just did not fit. Still.
Our appointment with a geneticist rolled round, finally. She agreed with the paediatrician – he had a look. She wanted to test for a syndrome. She wouldn’t give me the name of it. However, I had researched; I had become a google queen.
‘Angelman syndrome?’ I asked. She was shocked I had heard of it. ‘Yes’, she said. I agreed, I had read about Angelman syndrome, and I thought … it fits, maybe now we would have our network, our support system, and there would be people who got Joshua, people like Joshua. But it was not to be. His tests were negative for Angelman syndrome. We were informed that there were lots of children with possible syndromes that did not yet have a diagnosis and were asked if we would like to become part of the DDD (Deciphering Developmental Disorders) Study – a nationwide study looking at thousands of children’s symptoms and genes and discovering new diagnoses. We agreed. We were also at this point given information about a network that had been set up to support families with undiagnosed children, SWAN UK (syndromes without a name).
It took me a long time to finally submit my application to SWAN UK and join their support forums. I think I was me in denial, feeling like a fake.
Without a diagnosis you can sometimes doubt yourself and doubt that what you are dealing with is really anything at all. Even then with a four-year-old who couldn’t talk, was severely cognitively delayed, had an odd gait when he walked, was incontinent … the list could go on.
When I finally plucked up the courage to join SWAN UK, I found their Facebook group. It was made up of a fabulous group of people, all in the same boat. Yes our children all deal with different problems – some have learning disabilities, some don’t, some have medical problems some don’t, but we are all there, with the same feelings, with the same challenges and for the first time I felt like we belonged.
We still hope for a diagnosis.
The DDD Study found nothing in Joshua’s genetics, so we have now been put on the 100,000 Genomes Project. I would still like to know what the future holds for Joshua, and know what I should worry about next. Will epilepsy be an issue? Should I be looking out for seizures – I know he is high risk for them and it would be nice to know if they were part of his diagnosis or not. I still feel that it will all become clear one day, but for now Joshua is a SWAN, and he has Joshua Syndrome.
Joshua Syndrome has many features and symptoms including Autism, Severe Learning Disability, and severe PICA, microcephaly, incontinence and being non-verbal and loads of other challenges that I won’t list as this article is long enough already. However, it also includes hysterical laughter when someone says “whoopsie daisy”, pairing up shoes when they are strewn about the place, vibrating and shaking with excitement when his favourite YouTube video comes on, squeaking with excitement when you say the word ‘Bus’ as he can’t wait to get on it, an all-consuming fascination with lift doors – it’s a wonder to watch him investigate the edges so closely (even when you have been riding up and down in one for a good hour or so).
I think I have made my peace with waiting for normality, because in reality there is no normal; life does not allow for normal. How boring would life be if everything was the same? I have been given the gift of celebrating the tiny things in life, like YouTube videos of bus routes and of lift doors opening and closing. However, a little bit of sleep wouldn’t go a miss … one can hope.
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