Life with Rett Syndrome: It is so much more than the facts, the stats and the science

Beth Johnsson

rett 300x225 Life with Rett Syndrome: It is so much more than the facts, the stats and the scienceBeth 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.

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  • LordTruth

    Please forgive me leaving a comment that is absurdly puerile but I hope gets to you.

    Nearly two years ago a person I had helped with a computer game invited me to meet his daughter ,three and a half at their flat.

    She was adorable very thin elfin with two pigtails and an adoring mother and father..but strangely she never talked or uttered a word and she was very hostile to her parents resisting all attempts by them to embrace her..

    It was quite obvious something was seriously wrong.I asked the mother if she ever spoke no she said sadly she cant speak..

    I went home depressed and looked up every site I could find.The only suggestion that seemed reasonable was for her to take omega 3 fish oil and vitamin D.

    I mentioned this to the father who had never heard of these things

    About two months later he phoned and asked me around again How is J—– I asked well he said you must see her.

    When I arrived I was met by a loving chattering little girl who was quite a show off if she knew what her situation had been before.. She is now very bright and normal

    Now these parents– intelligent people had been to many doctors. They had NEVER been told about omega 3

    I do fully realise that Retts syndrome is totally different from autism etc but I do urge you to try it ..who knows It might slow down her regression or help with her symptoms ..its in any pharmacy and is not expensive.
    I have absolutely NO connection with the vitamin industry whatsoever–If Omega three has no effect on your little girl please anyway tell any parent of its extraordinary benefits especially for very young children..
    I am sure a cure for this terrible disease will be found in a few years the little girl released from autism they can recover quickly

    My best wishes and thoughts for you and this little girl..cheers..

  • Nicola Perriman

    Im sure these Fish Oil companies have a google alert on anything Rett Syndrome – will they stop at nothing to promote their products. Oh i wished it was tha simple!

  • Jonathan Taylor

    No amount of fish oil will help a child with Rett Syndrome (its not Retts). It’s a genetic level condition, so a change in diet won’t help.
    This is one for the genetic scientists to work out, and hopefully, one day, I’ll get my daughter back.

  • DomainRider

    Correlation does not imply causation. Omega 3 and vitamin D are normal parts of a healthy diet; deficiency symptoms are easily recognisable. Your story isn’t really evidence of anything – as you seem to admit in the first sentence.

  • LordTruth

    What an extraordinary world we live in..

    I actually write a lot of comments on political and social issues in British and American newspapers and am used to the sometimes low level of replies etc to them

    But when I merely point out something that was quite startling in relation to an autistic girl I am attacked in the most surprising way

    Rett syndrome is recognised as a genetic disease and has nothing to do with autism ..yet in my investigations I discovered that there may be a faulty gene in autistic children that prevents the full uptake of vitamin D which is why possibly supplements are useful etcetcetc

    One commenter suggests that we get healthy amounts of Omega 3 and D from a healthy diet .Since the government is trying to get everyone to eat three servings of oily fish a week it shows these levels are low and all American investigations show very low levels of D

    But I have done my bit for you out there.

    The lady who suggested I was ‘working for the fish oil industry ’should know that I have no connection with any company or business of any kind, am a retired Head of Science at various schools ,am in my seventyeigth year,look about thirty years younger and am as lively as a thirtyfive year old probably due to living on a very limited diet and supplements
    A comment I made refuting this business suggestion has not been posted

    Anyway my best wishes to these lovely children and I hope parents make sure they themselves take everything healthy to alleviate the terrible stresses they must suffer.
    I am confident this disease will be curable within the next ten years
    Everyone is thinking of you all.

  • disqus_111

    Your an idiot and its offensive that you go on in this manner. MECP2is involved in DNA methylation with many downstream targets and so it is nearly impossible that the widespread effect of this will be completely remedied by a single substance. Even if some very speculative research into vitamin D as an inhibitor of the possibly overactive NFkB pathway, as a science teacher (which you are obviously not) you should know the importance of controlled studies into drug efficacy and not to give people hope based on anecdotal evidence.

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