Did you know that 6,000 children are born every year with a genetic condition so rare that it is likely to remain undiagnosed? We are one of those families.
My twins have:
Global Developmental Delay, learning difficulties, chronic lung disease, asthma, laryngomalacia, spastic diplegia, low tone, restless leg, hypermetropia, bilateral convergent squint, equinovarus deformity, planovalgus feet, severe sleep apnoea, recurrent respiratory illness, sensory processing difficulties, hip displasia, camptodactyly of fingers, mallet type deformity, dismorphic features.
These are just some of the labels or symptoms that have been used to describe the twins over the last six years. Some only apply to one twin, most to both. You get the picture.
These issues, 51 medical specialists and 6 different hospitals. But no diagnosis. No ‘syndrome’ or ‘disease’ to attribute to them.
I mainly tell myself that it doesn’t matter and that labels can be restrictive. But, actually, when I am having a ‘why us?’ moment (usually they come in the middle of the night when the twins decide that sleep is for the weak) I do want to know.
- Knowing means I would be able to answer that dreaded question; what is wrong with them?
- Knowing means I could better explain their condition to my eldest, my family, myself!
- Knowing means I might have an indication of what the future might hold for my beautiful, cheeky boys and knowing would make access to services and form filling far easier.
The twins are now six. I went into labour at 31 weeks. The doctors and nurses said I wasn’t in labour but it was anxiety that was causing the pains. Then my waters broke and they were the anxious ones.
I suppose it started there, although we didn’t know it then. I think I have been in denial for a long time. After their first year in hospital, I was sure the twins would bounce back and catch up. Yeah, I mean, sure they didn’t even roll but give them time… disability was definitely a thing that happened to other people. We looked round a marvellous special school. You know, focusing on the nursery. Give them a year or two there and they would be mainstream running, jumping, counting and spelling in the blink of an eye. Yes, I was in denial. You could say it has been a slow realisation from a rocky foundation of blind optimism and positivity. I suppose, a psychologist would say that it was probably an act of self-preservation. I think it was also to protect myself from the ultimate fear of every parent with a special needs child – the future. In many ways this self preservation has been quite lonely. I felt a total outsider and an object of pity the one time I tried going to a ‘normal’ twins toddler club. I didn’t engage with any other groups either as we didn’t have a diagnosis and I felt a bit like a fraud. We didn’t fit in anywhere until we found SWAN UK.
There is a network called SWAN UK (syndromes without a name). This is a dedicated support network available to families like ours. Not only is it invaluable to have families with a wealth of experience to call upon for advice and support but perhaps, more importantly, it has been empowering to feel that we aren’t the only ones affected in this way. It isn’t just us.
The friendly families at SWANUK look beyond the symptoms and disabilities. They see the twins how we, their family see them: energetic, happy, smiley, mischievous, loving children with a fabulous sense of humour. The twins struggle with so many things and have pain related to their conditions but you wouldn’t know. They smile all of the time.
They are also individuals; Alex is sociable and outgoing, with ‘lots of words we just don’t understand’ (according to a recent paediatrician report). Dylan is independent and a bit more reticent in his affection unless he knows you, which just makes it all the more special. He is also a whizz with stacking cups and develops his own games. When we go out to SWAN UK events we make friends. The boys make friends. It isn’t all about knowledge, education and support. There is plenty of opportunity to have fun too. As a family we have had some fun days at the Snoezlan and farm parks and I have met some wonderful people over drinks and meals and made many friends for life.
Now it is time for you to learn about this amazing network and spread awareness as we are sure that there are families out there like ours. SWAN UK wants to reach these families and provide support. Please help by sharing our story and looking at the SWAN UK website to learn about the amazing work they do and how you can support them.