Life with Rett Syndrome: It is so much more than the facts, the stats and the science
Beth Johnsson is a mother of three and a secondary school English teacher. Her daughter Hannah was diagnosed with Rett Syndrome just before her third birthday. In this blog she shares her experiences of caring for a child with the condition.
I never expect anyone to know what Rett Syndrome is. In the three years since Hannah was diagnosed, only twice has someone responded with ‘yes, I’ve heard of that’, and both times it was because they had seen a documentary about Coleen Rooney’s sister. Three times, the response has been ‘oh, Tourette’s?’
Even the multitude of professionals with whom we have come into contact have rarely actually dealt with a child with Rett even if they have heard of it. And those who have dealt with it before, well, they’ve never dealt with Hannah. The spectrum and variation is so wide, the uncertainty about regression so great, the individuality of children so inevitable, that every girl comes with her own personalised set of symptoms, needs and her own completely unpredictable future.
For me, Rett Syndrome is hard to define and difficult to explain to those who demand facts. I could give you the facts, the statistics, the science but Rett Syndrome is so much more than this, so much more debilitating than the physical symptoms, so much more frightening than the facts and figures can show. I could give you the definitions but these are only a tiny fragment of the condition which has come to define my daughter’s life and mine. Google ‘Rett Syndrome’ or follow the link at the bottom of this page, and you can become an expert in the definitions, the facts, the statistics, the science. You can read and research everything you need to understand technically what Rett Syndrome is but you still won’t understand it.
You will read that at around 18 months of age, the child’s (predominantly girls) general development seems to slow down and stagnate and previously acquired skills are lost. Which means? Which means that the little girl you have watched turn miraculously from a baby into a toddler, who can say ‘mummy’ and ‘duck’ and babble incessantly to her dolls, who can crawl and is just starting to toddle around delightfully unsteadily, who can turn the pages of her favourite books and grasp an open cup firmly with two hands – this girl is gone.
You will read that as the condition takes hold, the child will regress further and a range of severe dysfunctions will prevail, including a loss of motor and communication skills. Which means? Which means that your little girl, the one who is so curious and engaged in the world around her, that girl is slipping further and further away from you. She is not only losing her steps, her words, her hands, but she is also retreating into a world which only partially overlaps with yours.
You will read that once fully developed, the syndrome is marked with severe multiple disabilities including epileptic and non-epileptic seizures, dyspraxia, the loss of control and co-coordination of autonomic function, impaired cardiac and circulatory functions, severe respiratory and digestive problems, scoliosis and limited life expectancy. Which means? I don’t know and I try not to imagine, we haven’t got that far. Yet.
Google ‘Rett Syndrome’ and you will find the definitions. They will give you some idea of the impact of Rett on the lives of a little girl and her family but the insight they provide is, like the girl’s life, profoundly limited. They cannot tell you how looking at a ‘pre-diagnosis’ photo of your daughter becomes a form of self-torture – magical yet heartbreaking. How birthdays are a bittersweet celebration of how far she has come and how far she hasn’t. How Christmas surrounds you with images and sounds of children you find hard to bear. How her sibling’s achievements are all the more miraculous yet all the more painful because you never got to see her do the same. How stumbling across a few seconds of footage in which she is talking to her dolls and drinking from a cup she can hold herself, can leave you feeling like you have just lost her all over again. How you miss that little girl who used to live with you and ache for her to come home every single day.
Yet there is something else the research and the definitions might give you. You might read that Rett Syndrome is a single gene disorder, that the gene MECP2 has been identified as the gene responsible and that in 2007 the condition was demonstrated to be reversible in mice models of even late stage disease. Which means? Which means that there is real, tangible hope for a cure, and that one day, maybe not so far off, when you Google ‘Rett Syndrome’, you will find that it was the world’s first ever neurological disorder to be cured. I find that definition a lot less difficult to explain.
For more information visit www.reverserett.org.uk
Tagged in: Coleen Rooney, Rett Syndrome
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