#Special Saturday Post: What My Daughter's Special Needs Are

Chrissy's magic hands

Chrissy's special needs are complex with moderate to severe learning disabilities, epilepsy, a rare chromsome disorder and challenging behaviour.

These labels gradually crept up on us. There was no defining moment when a doctor sat me down and told me that there was something wrong with my child, let alone what was wrong.

When Chrissy was born weighing 7 lb 6 oz after a straightforward first pregnancy and a long induced labour, I was bursting with pride - awed at the part I'd played in creating something so perfect. Friends and family agreed that she was one of the most flawless and alert-looking newborns they had ever seen. I called her my 'air traffic controller' because her hands waved around energetically whenever she was awake. Her brown eyes were bright and wide open as they gazed into mine.

We spent six days in hospital - standard for first babies then. Chrissy's suck was weak and she didn't feed well. Her weight dropped to under 6 lbs. Medical staff kept an eye on her but they weren't unduly concerned. Once home, Chrissy was a placid, sleepy baby. She failed to thrive and vomited up most of her feeds. She was noticeably floppy compared to other babies of a similar age. Concerned about her poor head control, her health visitor referred her to a paediatrician. I had no idea how significant these early signs were - just a slow, chilling realisation that this wasn't how things should be. I was 23 then and didn't know what had hit me.

Chrissy was late with all her developmental milestones and didn't walk until she was 22 months. Speech came slowly too but we put it down to glue ear - she had recurrent ear infections. I was told that Chrissy had 'developmental delay' but I assumed she'd catch up. She had her first seizure at 10 months, diagnosed as a febrile convulsion, then started having seizures without a temperature. Epilepsy was diagnosed when she was a year old.

Chrissy's behaviour was a big concern from infancy. She was an absolutely delightful, sunny-natured baby, but even then, she had intermittent prolonged screaming outbursts. Our GP put it down to colic, although Chrissy stiffened and arched backwards rather than drawing her knees up to her stomach. These screaming bouts have continued ever since, varying in intensity and nature. As soon as she was mobile, the screaming was accompanied by head-banging, then other types of self-injury as she grew older. She only ate a limited range of foods, and they had to be smooth as she had problems with chewing.

I was desperate for answers and wondered if something had happened during birth - my induced labour was long and difficult but there were no obvious complications. Her doctors weren't able to give me any answers. As of course there was no internet then, I scoured the local library for information, but I drew blanks. Brain scans and, later on, genetic tests, were all clear. Chrissy didn't look as if anything was wrong until she was about six although she was tiny and looked younger than her chronological age. Autism was ruled out. 'Autistic people don't speak,' her doctor said. A speech therapist described her speech as 'parrot-fashion' but said Chrissy was 'unautistic.'

When Chrissy was 15, I started writing my book 'Bringing Up a Challenging Child at Home: When Love Isn't Enough.' http://www.amazon.co.uk/Bringing-Challenging-Child-Home-Enough/dp/1853028746/ref=sr_1_1?ie=UTF8&qid=1319238962&sr=8-1

It helped me to celebrate Chrissy's uniqueness. I gave up my search for answers.

Then, seven years later came a breakthrough. A research project we'd taken part in revealed that Chrissy had a rare chromosome disorder, called 1q21.1 microdeletion. Not much was known about this newly discovered genetic condition but autism, learning disabilities and neuro-developmental disorders are associated with it. Chrissy's microdeletion is de novo, which means it occurred spontaneously. During the same year, purely by coincidence, Chrissy's psychologist was given the go-ahead to do a long-awaited autism assessment. Autism was confirmed. So much about Chrissy is explained by this diagnosis, hence our late learning curve.

Today, Chrissy's self-injurious outbursts blight her life more than ever but she can still be an absolute joy - affectionate, funny and full of endearing quirks, such as the 'magic hands' pictured. Her hands are still quite plump, like a baby's. 'Chrissy, do your magic hands,' we ask, and she's off, grinning like a Cheshire cat and rubbing those flappy hands together until they squeak.



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A Strange Genetic Journey

I’ve just had a long conversation on Skype with a pleasant & well-informed Dutch guy whose wife & son carry the same chromosome deletion as Chrissy. He gave me a potted family history that struck a spooky chord. Although Chrissy’s deletion is de novo (maternal origin), our families share more than a coincidental number of characteristics.

The man's wife was born with a squint – the first sign of a possible genetic problem. I was too, & had corrective surgery. Her dad had one leg about 1½-2 inches shorter than the other, like me. Due to investigations into ongoing back problems, I’ve discovered that I also have subtle ‘skeletal abnormalities’ in my spine that are connected to the leg length discrepancy. There are other similarities in our family history that have made me want to explore this further - maybe with a research scientist who has a particular interest in 1q21.1 anomalies.

It makes me wonder how 'de novo' the effects of some of these rare chromosome disorders really are - or am I reading too much into a series of coincidences?

Rare chromosome disorders, learning disability & social class

I got chatting to a very well-heeled lady about having a child in the family with a rare chromosome disorder. She took great pains to impress upon me that no one in her family were carriers & that if the baby was going to be intellectually disabled effects would only be mild because the baby would 'have the best.'

Chrissy's chromosome disorder was de novo (spontaneous) - neither I nor her dad carried the micro-deletion. It was just a one-off, an accident that could have happened to each & every one of us. Does this make us somehow 'better stock' than other families where one parent does carry the micro-deletion? NO! Yet I got the uneasy impression that in this lady's eyes the carrier issue is a big deal for all the wrong reasons. I also wondered how stigmatised & embarrassed the family would feel if the baby were to grow up with significant learning disabilities. As if you can control the severity of intellectual disability by throwing money at the best physios, occupational therapists, psychologists etc.

People need to wake up to the facts: rare chromosome disorders & learning disabilities cut across all social classes.