Living in Limbo

This is the first of two posts written to celebrate Undiagnosed Children's Day on April 29th and raise awareness of SWAN UK (Syndromes Without A Name) which supports families of children living with undiagnosed conditions.

            Limbo

            Pronunciation: /ˈlɪmbəʊ/

            An uncertain period of awaiting a decision or resolution; an intermediate state or condition

           Synonyms: unfinished, incomplete

In the early days, when Hugh’s challenges and difficulties were becoming more and more apparent, I’d take him to the doctor with each individual symptom and expect a solution. 

·        He vomited a lot – he had tests and we started treatment for reflux. 

·      His skin was red and sore – we were given cream for eczema, began investigations for milk allergies and tried new milk substitutes.

Reflux, eczema, allergies … these were all ‘real’ things.  They presented with symptoms, they were investigated, we were given a name I could google/research and a treatment to (supposedly) fix it.  Job done.

So when Hugh started showing signs of a developmental delay and it was apparent that his head was smaller than it should be, I similarly expected tests, a name and a treatment.  Initially this seemed to be the case – Hugh had x-rays, ultrasounds, an MRI and blood tests.  Labels were bandied about: microcephaly, global developmental delay … but there was no treatment, no pill to take, or cream to apply or quick fix to make this better. 

And the labels we were given turned out to be mere descriptions of symptoms, not causes. 

·         Microcephaly – a small head

·      Global Developmental Delay – Not reaching two or more milestones in all areas of development

Why though? Why?!!! source

These labels told us nothing that wasn’t already fairly obvious.  They didn’t explain what had caused Hugh’s difficulties or how it had happened.

So like an impatient child, I kept asking ‘why?’

And, perhaps naïvely, I expected an answer; a reason.

Initially I thought having a reason would give us a way to ‘fix’ things, and indeed if his microcephaly had been because his skull had fused too early, a possibility that was investigated, then there would have been a treatment that could have helped. However, as time progressed and any obvious causes were ruled out, it became apparent that we wouldn’t be curing anything Hugh had, it would simply be a matter of managing his symptoms and helping him develop to the best of his ability.

When that crushing realisation sank in, the need for a diagnosis was more about finding out what the future might hold by finding others that had travelled that path before.  A diagnosis, I felt, would unite us with other families all facing similar worries and challenges.

I spent many hours on the internet, reading medical journals and googling symptoms, in some vain attempt to diagnose Hugh myself. Hugh had countless tests and visited various consultants.  He had numerous examinations and had photos sent to specialists in other countries.  I waited anxiously for test results, I endlessly phoned secretaries and spent hours waiting for return phone calls and hospital letters. None of which provided us with an answer. 

I lived in a strange kind of limbo. Despite Hugh’s obvious difficulties, I wouldn’t apply for Disability Living Allowance.  The thing is, I wasn’t even sure if he was ‘really’ disabled as we didn’t have a diagnosis.  Without a diagnosis I wasn’t really sure where we belonged, I didn’t feel that we fitted in anywhere. I knew we didn’t fit in at regular playgroups, but when I telephoned to enquire about a local group for disabled children, I explained I wasn’t sure if Hugh was actually ‘disabled enough’ to go. It was both a relief and a punch to the stomach to realise it was, in fact, the perfect place for him to be. 

I assumed we were the only ones living in this strange kind of no-man’s land where we knew something was wrong but we didn’t know what. Initially I didn’t realise there were other people out there also searching for a diagnosis.  It would have saved me many hours of heartache and loneliness and desperation if that had been mentioned to me in the early days.

We are actually closer to a diagnosis than most other children with a Syndrome Without A Name (SWAN) in that Hugh has a confirmed chromosome abnormality.  What that tells us is that we know his condition is something he was born with; we know it is genetic.  What we don’t know is which specific genes or chromosomes have caused his difficulties (it’s like trying to find one misspelt word in a huge book apparently).  Nor do we know if he has inherited it from us or if it is something that happened randomly and spontaneously while his cells were dividing.  So despite having some answers we are still no further forward. 

The thing about searching for, testing for, waiting for a diagnosis is that you expect there to be an end; a point at which you get that diagnosis.  I thought that this period of uncertainty, this limbo, would just be a brief pause on the journey before our final destination.  I thought that the diagnosis was just around the corner – the next day, the next appointment, the next week, the next phone-call, the next test, the next letter. But it never arrived. You can’t live on high alert like that forever though and at some point, I stopped waiting.  I’ve not stopped hoping though, I just don’t find my heart racing at every hospital letter and I don’t ring the geneticist every month.  I still Google occasionally and Hugh’s enrolled on a couple of research studies here and in The States and I chase them up every now and then.  I’m hopeful sometime soon there’ll be a diagnosis but I’m no longer naïve enough to think it’ll change a great deal in our immediate future.

All Aboard!!! source

I guess all the journeys to diagnosis are different; some take longer than others, some start heading in one direction but end up somewhere else and some arrive at the station only to find out that they’re in the wrong place entirely and have to start their journey again!  We’re 6 years into our Journey to Diagnosis but I’ve given up worrying about what the weather will be like when we get there, for now we’re just enjoying the ride on the Limbo Train. 

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