How would you feel if you discovered that your normal, happy child isn't as normal as you thought? Jo Malone meets two families who've learnt that genes have a lot more to answer for than just the colour of your eyes.
'We just have to wait and see what happens,' say David and Laura Francis.
No-one knows what their children will face in the future; whether they will be healthy, pass exams, find work, move out, have relationships and maybe children of their own.
But when a child has a rare chromosome disorder, the future can feel even more uncertain.
It makes time now even more precious, say David and Laura, parents to Isobel, eight, and three-year-old Angus.
The couple knew for several years something was different about Isobel, but they weren't really sure what. Medical professionals agreed and, last spring, genetic testing finally revealed that she has a rare chromosome disorder, a duplication of a small section of number 15 chromosome.
Although the diagnosis was initially unexpected by the family, from south Norfolk, learning more about genes and her chromosome disorder made a lot of her characteristics suddenly make sense.
She had been diagnosed as severely long-sighted when she was 13 months old, and the couple kept a very close eye on her development. As she grew they realised that Isobel's spatial awareness wasn't developing, that she was very hyper mobile and that her speech was different from her peers. She would, for example, repeat one complete word of her sentence over and over while her brain searched for the next word.
She was keeping up with her classmates when she started school, but by the end of that first school year it was clear she was falling behind.
Isobel wasn't only different academically, but socially. She had to be constantly reminded of things that other children seemed to pick up easily – such as where to go at break time or when it was time to go home that she needed to put on her coat and carry her bag.
'We knew we needed help but we didn't know what was going on,' says Laura.
The various differences were starting to add up and the couple were happy for her to be tested to try to discover what was happening. The result was a rare chromosome disorder.
'It was almost a relief,' says David. 'We had been worried perhaps we had been doing something wrong, and we had been saying to so many people that she had this issue and that one and hypermobility and so on and were we being hypochondriacs? But we weren't,' says David.
Isobel has also been diagnosed with Attention Deficit Disorder and the couple says her school has been brilliant, working to understand her chromosome disorder and giving extra academic, social and emotional support.
Laura and David feel knowing that Isobel has a chromosome disorder has helped them understand some of her behaviour and work with her as patiently as possible.
Information from Unique, the charity supporting families living with a rare chromosome disorder, has helped them feel less isolated by explaining her diagnosis and putting them in touch with other families with a child with the same or a similar chromosome disorder.
'She is not behaving badly on purpose, she is not deliberately being naughty. She is being Isobel,' says David, adding that diagnosis or not, they are working hard to ensure she is polite, does her best, works hard and tries to behave appropriately.
She suffers from 'meltdowns', trying to run away and collapsing in tears when she really cannot cope with a situation whether that's spelling something wrong, struggling with a page of reading or an unexpectedly busy social situation.
Calming her down – to finish a letter to Blue Peter about her chromosome disorder for instance – can take an hour. But Laura and David say her determination shines through, and although she can get frustrated with herself, when she finds something she loves, she will work tirelessly at it.
Little brother Angus, three, is exceptionally understanding and tolerant and extremely good at helping Isobel. 'He'll offer her a toy, and wait, and just be there for her,' says Laura.
David, an ex RAF serviceman who qualified as a primary school teacher last year, opted to postpone his induction year and is working as a teaching assistant, giving him more time to concentrate on the family.
'It's family first, this time is precious,' he says.
Isobel herself says she loves gardening, cooking, Brownies and playing on her tablet. As she tells me she wants to be a hairdresser and get a job when she grows up, Laura and David look proud.
'We don't know what the future holds, but the goal is that she will be independent,' smiles David.
Isobel finished her letter to Blue Peter and received a Blue Peter Badge for her courage and perseverance in the face of her learning difficulties.
We also meet another East Anglian family who have learnt more about rare chromosome disorders than they ever imagined.
Noticing a squint in one of her son's eyes when he was about five months old was the start of a long journey for Mel Holford.
All manner of other issues followed, as George lagged behind the crawling, walking and talking milestones that other babies were meeting.
Mel initially blamed the severe chest infections and other illnesses George had for setting him back, feeling reassured that everyone always says babies develop at their own pace,
But as George continued to miss developmental stages testing continued. It was discovered that he has very tiny pieces of one of his chromosomes missing, chromosome X, and very tiny pieces duplicated on chromosome 10.
'It was a big shock. We knew he wasn't doing the things you would expect him to be doing so we knew something was different, but we never expected it to be anything this big that would have such an effect on his whole life,' says Mel.
Now 16 and attending school in Lowestoft, George is the only one on chromosome disorder support charity Unique's database with such a unique chromosome pattern.
'There are no other Georges.
'It is amazing that something so little, and these are very tiny pieces, can have such a big effect,' says Mel.
George functions at toddler level, he does not speak and has profound and multiple learning difficulties.
However, he is healthy and loves life, particularly when it involves music, says Mel.
She, and George's big sister Lauren, 21, celebrate the positives for George, from his love of music and cheeky sense of humour to his near computer geek skills on the iPad and ability to wriggle out of doing things he doesn't want to.
'Lauren has always been absolutely amazing. She has always accepted him and I think that has shaped her as a person. She just accepts people as they are.
'She has never ever resented George,' Mel adds.
Mel says the support from Unique has been invaluable because while George is the only child they know to have his particular chromosome disorder, there are others with similar disorders and many with similar issues – such as their children sleeping badly, having tantrums or trouble expressing themselves.
'They put us in touch with parents in similar situations.
'It does help knowing there are other people out there, that you are not the only ones and sharing experiences,' says Mel.
'We are lucky, George is healthy, we are so lucky there,' adds Mel.
Finding out more
DNA is in genes, genes are strung along chromosomes like beads along a necklace and there are normally 23 pairs of chromosomes in every human cell. Chromosome abnormalities usually happen in the womb as a result of an error in cell division at the early stages of embryo development.
Rare chromosome disorders include extra, missing or re-arranged chromosome material. Down's Syndrome is one of the more common chromosome disorders, characterised by an extra copy of genetic material on chromosome 21.
Some babies are diagnosed in the womb with chromosome disorders, others are diagnosed through genetic testing when symptoms become apparent.
The charity Unique provides support and information to families and individuals affected by rare chromosome and gene disorders and the professionals working with and caring for them. Chromosome disorders are lifelong conditions. They cause learning and physical disabilities, many are severely life-limiting and occasionally life-threatening. There is currently no cure.
www.rarechromo.org
Learn more and help fundraise for Unique at a coffee morning on March 24, 10am - 12pm, New Church Farm, Fritton, near Hempnall.
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