Friday, 4 May 2012

Living without a Diagnosis

I wrote this piece for Women's Realm when Chrissy was 12....

Chrissy is mad about music. Last summer the whole family went to our local fete in Hemel Hempstead where a brass band was playing. Before I knew it, Chrissy had barged past the conductor and was conducting the band herself! Fortunately the musicians found it highly amusing.

This eccentric, endearing behaviour is typical of Chrissy, who finds it impossible not to start dancing if we go into a shop with background muusic. She has moderate to severe learning disabilities but I don't know the exact nature of her problems. I've never been told what to expect from her in the future, and, hardest of all for me to come to terms with is the fact that she's never had a diagnosis.

I've battled through some tough years and I know there'll be more obstacles ahead, but I've learned to enjoy Chrissy's cheerful, funny manner and to live with her violent tantrums and obsessive behaviour.

When Chrissy was born, 10 days late, there was no indication that anything was wrong. My husband and I were thrilled with our first-born. We used to call her our 'air-traffic controller' because she waved her arms so vigorously.

The first signs that something might be wrong were feeding difficulties, poor weight gain and a general floppiness. Because I was an inexperienced first-time mum, I wasn't sure what was 'normal,' but I gradually realised that something wasn't right. I was gripped by a terrible anxiety and would be awake at night wondering what it could be. Every time I talked to my husband about it, we argued, and he made me feel that I was wishing problems on Chrissy. My mum agreed that something might be wrong, though she said my sister, brother and I were all late developers. My brother didn't walk until he was 18 months old and went on to read history at Oxford University!

When I look back over the early, bewildering times, I wonder if I would have enjoyed Chrissy more if I had expected less of her. I spent ages coaxing her to do what other babies did naturally - to reach out and touch a toy, or eat something. I couldn't help comparing her to other babies around the same age who were larger and more forward than her.

After a health visitor noticed Chrissy's poor head control, she was referred to a paediatrician. By then she'd started to have epileptic seizures so she was sent for a brain scan. We were told it was normal and that Chrissy was a delayed developer. When I asked questions I felt that I was being dismissed as a neurotic first-time mum.

Whenever Chrissy was admitted to hospital with her uncontrollable seizures, I'd sneak a look at her notes, wondering if they contained clues as to what doctors suspected was wrong. I remember reading one note by Chrissy's paediatrician: 'Mrs Gregory came to see me, worried as usual. Asked again if her daughter was handicapped.'

I went through a sort of grieving process. Sometimes I felt angry; at other times I would cry myself to sleep. I began to read books to try to diagnose Chrissy myself. I read one book about a family coming to terms with having a baby with Down's Syndrome, and began to think how different it must feel to have a label given to your child early on - but then I realised that many children with recognised syndromes don't follow a guaranteed pattern of development. Some children with Down's Syndrome have profound learning disabilities with life-limiting health problems while others are very able and healthy. It was some comfort to learn that, for about 40 per cent of children with learning disabilities there is no known cause or name for their set of symptoms.

After much persistence on my part, Chrissy was referred to the Great Ormond Street Genetics Clinic when she was nearly two. The geneticists tried to answer every question I had and gave the impression that they had all the time in the world for us. Every inch of Chrissy's body was examined, and all abnormalities, such as her weak muscle tone and short stature, were logged into a central computer to see if they were indicative of a certain genetic condition.

Two syndromes were suggested as possibilities but chromosome tests were needed. I looked through medical books and couldn't see how her particular characteristics fitted either syndrome and, in due course, we were were told that Chrissy's chromosomes were normal.

My search for answers continued. We were seen about every four years at the genetics clinic. One geneticist thought Chrissy was similar to children he'd seen with something called Smith-Magenis Syndrome. When I read more about these children I thought I'd finally found out what was wrong - Chrissy shared so many similarities with them, such as prolonged periods of distress and her way of flapping and clasping her hands in a strange manner - but the tests showed that Chrissy didn't have the characteristic deletion on a chromosome that's associated with Smith-Magenis Syndrome.

At this point, I stopped searching for answers. I saw how fruitless it was to be so fixated on the idea of a diagnosis - after all, we'd already learned to accept Chrissy's problems and love her as she is.

Our day-to-day life can sometimes be fraught. It's difficult for us to go out as a family because Chrissy finds new environments unsettling. Sometimes I dread taking her out on a routine outing - say to buy her new shoes - because her behaviour can be so unpredictable, and her siblings get upset when Chrissy barges into their rooms uninvited or breaks their possessions. As she grows older her outbursts become more difficult to manage. She still has prolonged periods of distress with no apparent cause. We call them her 'screamings' and they can last for over two hours. Sometimes she'll have two or three in one day and will deliberately harm herself. No one can tell me why she behaves like this and, although I've dealt with them for years, they still upset me.

Yet, despite the challenges Chrissy's brought us, she has shown us a unique way of looking at the world. I love it when I see Chrissy sitting with Alex or Jamie, singing along to music tapes, or when she copies people's facial expressions or says something to make us laugh. Whatever her problems, we're very lucky to have Chrissy as part of our family.

I am a SWAN UK (Syndromes without a Name) blogger


  1. What a horrendous thing for th paediatrician to write Jane. You must have been so angry. I relate to that opinion that you wanted something to be wrong with her. A few people thought that because of my job (in a special school) I was seeing things that weren't there and worrying about nothing.

  2. He was hopeless Emma. Thank God we didn't have him for long. Interesting parallels considering you had experience of special needs & I had none whatsoever! I guess this is something many parents face unless their child has very visible disabilities from infancy.

  3. How can professionals be so cruel? I hate it when my children are treated just as numbers, when they want to check stuff just so they can fill in their forms and tick their little boxes, when it's just a job not about real people :( I hope this piece helps again to change people' opinions x

    1. I agree - our children become invisible in the midst of all the paperwork & arse-covering. I direct professionals involved with Chrissy to this blog so they can see the bigger picture - & realise that there is a real person with a history, & people that love her. I think too often they just see the labels: 'challenging behaviour,' 'autism' & 'complex needs' & here I was once bemoaning the fact that she didn't have a medical label!!

  4. Jane, thank you for sharing this post. I know a few children who are undiagnosed and their mums have found it hard not having a name for them to grab hold of and use. I wonder why professionals come across as unfeeling? Do you think that they just see too many people and the faces before them become a blur?!

  5. Thanks Di, I don't know but I've met some professionals, like the geneticists, who show compassion and interest, and speak to me as an equal.

  6. Very moving to read. Lots of shared emotions I think. Thanks for dusting it off for us again x

    1. You're welcome Renata. Reminded me of how fortunate we are now to have an explanation for Chrissy's problems x