Sunday, 20 May 2012

Eating Issues: A Special Saturday Post

Here, Chrissy is clutching her lunch-box in a carrier bag with its handles tied in a bow. Taking a packed lunch and indulging her food-related rituals enabled us to enjoy a trip to Exbury Gardens yesterday with her two nanas.
Chrissy has always been obsessive about food - from failing to thrive as a baby to over-eating as an adult. As a newborn Chrissy's suck was weak and she vomited frequently. Even as an infant, she suffered prolonged screaming bouts in which she would fling herself backwards as if in the grip of a painful spasm. I suspect she suffered from reflux as this is a characteristic of her chromosome disorder.

At her six week check I was advised to put her on solids as she wasn't gaining sufficient weight. The dramas at mealtimes began in earnest then. Chrissy choked, gagged and vomited her way through the weaning period, especially the stage 2 baby foods with lumps, as I agonised over where I was going wrong. I pureed her food for several years as she seemed unable to chew. The vomiting eventually eased but Chrissy's appetite remained poor. She limited her diet to a few select smooth foods, such as Petit Filous - the little fruit cream cheese pots, and Weatabix, mashed up with lots of milk.

Changes came gradually as Chrissy grew bigger and wanted the same foods as her siblings and peers - but she was still very picky and ate painfully slowly. When she was around 10 and anti-psychotics were introduced, her appetite increased and her diet became more varied. It got to the point where she'd eat anything and never seemed to feel full. Her weight decreased again when she went on Prozac and Naltrexone at 14, and during her six-month stint on a gluten and casein free diet. Her weight dropped to five stone when she was 22 and had the platelet problem. She would only eat cheese flan initially, then ate so little we wondered how she survived. After her hospitalisation, anti-psychotics were re-introduced on a daily basis, and she became increasingly obsessive about food. In fact, before her microdeletion was found she was even tested for Prader-Willi Syndrome, a genetic disorder characterised by over-eating and food obsession.

These days, Chrissy is overweight and her life revolves around food. She repeats the same food-related questions every couple of minutes 'what's for dinner?' 'What am I having?' 'Is it peanut butter?' etc. If we ignore her or don't answer in the right way she gets increasingly agitated and if she has to wait for food her obsessions will escalate into a self-injurious outburst. Due to these outbursts, particularly her stripping behaviours, we're very nervous about taking her out of the house. The trip to Exbury was a ridiculously ambitious plan but I knew that, for different reasons, it was a special place for Chrissy's nanas, and at this time of year it's at its most spectacular. We got there late - about 3.30 - because we couldn't rouse Chrissy from one of her sleepathons - but the long deep sleep had left her full of life, and she was thrilled to be there. The only heart-stopping moments came on the moving steam train when Chrissy announced several times with increasing urgency: 'I want to get off! Thankfully, Ian's iron grip, and our frantic distraction techniques and shameless bribery ('shall we open your picnic? What would you like next - cake or chocolate mousse?') worked a treat. She finished her picnic later in the most idyllic setting imaginable surrounded by a riot of colourful blooms, including the glorious rhododendrons Exbury Gardens are famed for. I'm so glad we decided to risk it. What a magical afternoon!

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

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