being undiagnosed

We are an average family of 4 (Mum, Dad, a 4 year old girl and a 1 year old boy, oh and two dogs!), apart from the fact that our gorgeous 4 year old girl has an undiagnosed condition.

Other than a hole in the heart and a bacterial infection at birth (both pretty common newborn problems) Twinkle’s condition wasn’t immediately apparent, only gradually coming to light as she began to collect other ‘symptoms’ and began to miss her developmental milestones.

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It took a while for us to really twig that things were going to be different for us. In fact, being undiagnosed we still really don’t know how differently things will pan out in the future.She has had all the normal tests the NHS can offer, chromosome anaysis, micro-array, MRI scan etc but no underlying reasons have been identified.Twinkle’s condition results in Global Development Delay and Sensory Processing Disorder.

We now understand her condition to be neurological (thanks in the main to Snowdrop joining the dots for us!), and that it is the effects of her overall sensory processing (visual, auditory, cognitive) which, along with hypotonia and is hyperflexiblity, has slowed her general development.

I have mixed feelings about the need for a definitive diagnosis (or not!).

In many ways being undiagnosed is a positive thing. We (and everyone else around her) have no preconceptions about how Twinkle will be in the future so we can just ‘get on’ with giving her the best chances we can for her to develop in her own way –

she is just our unique little girl

However there are also are lots of reasons why having a diagnosis IS important to us. A diagnosis could give us some vital information about potential health and development issues that could occur in the future which would help with future planning (including our house adaptations). It could allow us access to a support network of other children and families with the same issues and perhaps an exchange of ideas on particular therapy options, health issues, prognosis. Also from a totally administrative point of view, it would give us something to enter in the box marked ‘diagnosis’ in the miriad of forms we have to fill in to access therapy, education, funding and also give us a nice quick response to the quizzical looks from new people we meet….. ‘Undiagnosed Neurological Condition with Sensory Processing Disorder’ is quite a mouthful!

Twinkle being undiagnosed has also meant that for a long time our journey was very confusing, and at times pretty lonely and isolating, as we didn’t ‘fit’ anywhere, not in mainstream and not in any particular special needs group…..that is until we found SWAN UK!

We were given a leaflet about SWAN by our genetics department as part of the package of information given to parents of children entering the DDD study (Deciphering Developmental Delays: an academic study looking into detailed DNA variations to try and diagnose rare genetic disorders). I popped straight online when I got home, joined the charity and found ourselves in the midst of a national network of families on the same (but often very different!) journey into the unknown! SWAN has given us a fantastic online community for chat and support…

in SWAN world being undiagnosed is the new normal….we fit!

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