R’s not well again. She’s pale and tired – except overnight, when she is hardly sleeping at all.  Her breathing is laboured. She’s shaky on her feet, frequently struggling to put one foot in front of the other. She’s losing weight.  None of this is new but she’s just that bit more poorly than usual.

I struggle to know what to do when she is like this.   It could be “just a Rett thing” but I really don’t want to take the risk that it’s not.  Unfortunately, there isn’t a clear pathway in place for managing R when she is unwell.  The lead clinician for R’s care is her neurologist and it is outwith his role to manage acute episodes such as this.

I could, I suppose, take her to the GP.  My relationship with the GP has, however, been rather strained since I made a complaint. (R had collapsed on the school run. As I was very close to our GP practice, I stopped the car outside.  I ran in, R stretched deeply unconscious across my arms, and begged to see a doctor.  The receptionist glanced up at us briefly before declaring that it was only possible to see a doctor by appointment and if would I like to come back with R later in the day, she might be able arrange for us to see one then.*) Even if our relationship were better, the fact is, that unless R showed signs of an infection, and right now she doesn’t, there is little that the GP could do.  In any case, GPs find R very difficult to examine and we invariably find ourselves referred to the hospital emergency department as a precaution.  The doctors there make no effort to hide the fact that they feel that their time would be better spent dealing with a proper emergency.

I can’t imagine that this problem is unusual.  In fact, I know that it’s not.  NHS Fife have piloted an excellent scheme aimed at helping parents of children with complex healthcare needs.  They have employed (and trained) an Advanced Nurse Practitioner whose job it is to liaise with parents, offer treatment at home as appropriate and provide a bridge between families and consultants.  Part of the role is to accompany parents to appointments where that is required and even to arrange hospital appointments for different specialities to be booked on the same day.  This last sounds like a blindingly obvious thing to do, but in our experience it’s never ever done.

This scheme is brilliant but there is no sign that it will be rolled out here.  If the reason for this is cost, then this is short-term thinking.  By keeping children like R out of hospitals and by managing their care at home by Nurse Practitioners rather than doctors, the NHS could provide a better service at lower cost.  And its a great shame that, apparently, no-one administering these budgets can see this or even that there is a genuine need for it.


*Incredibly, only a matter of weeks later, and apparently after the reception staff had received further training, it happened again.  On this occasion, the receptionist asked me to take a seat and then didn’t alert the doctor.  This time, other patients who witnessed the events complained too.  I know, I really should change GP.


R moved into a new class with a new teacher again this year.  Despite reassurances from the school that the new teacher was good, I was worried. R made absolutely no progress at school last year. Her new targets, which were set shortly before the summer holidays, suggested that, in the view of the teacher at least, she was actually going in reverse.  A new teacher might mean a fresh start for children but too often for R, what this has meant is starting at the beginning all over again. Four years at school and her targets were still pre-reading skills.

Still, the signs looked good.  R was clearing enjoying the new class.  It was clear too that new teacher was trying, even if her home school diary suggested that R’s work was “inconsistent”.  Then two weeks ago, R was asked to look at pictures of her classmates on request for homework.  She refused point blank.  I tried, G tried, I tried again.  She completely refused.  G dug out some old flash cards (with words) that we hadn’t used much for years.  He held up two cards and asked her to look at a word.  She got every one right.  We sent them into school.  Her teacher tried and she got them all right for her too.

We had a meeting last week.  It was the usual crowded affair: head teacher, deputy head, educational psychologist, teacher and SALT. And we made a breakthrough.  We described again the motor planning issues that R has but this time we also described Susan Norwell’s approach: if the task is cognitively demanding then there should be very little motor demand made on R.  What emerged from this meeting is that the tasks that R had been set at school in the past have usually required substantial motor planning (even matching is demanding for R).  When we work with her at home, we never make this demand and she has always achieved more at home than at school.

Her new teacher has taken on the new challenge.  Two days later, when I picked R up from school, she told me that they were doing arithmetic together.  Her teacher kept making mistakes with her sums and R,  she said,  hooted with laughter every time she did.  Then today, in R’s home school diary, she wrote that R had spelled Wednesday for her, with only 2 mistakes.  I couldn’t be prouder.

The eyes have it

DSC_0159Collecting R from after-school today, I was greeted by an assistant who has only recently got to know R.  She started to gush about her eyes, “they are so expressive; you could lose yourself in them”. And it’s true, there is something about R’s eyes that is quite captivating.  Unable to reach for and grasp objects, R explores the world through her eyes.  She talks with her eyes, she points with her eyes. My Mum, a retired teacher, has always maintained that, within an acceptable margin of error, the intelligence of a child can be read in their eyes.  I like this idea.  R is very articulate with her eyes.  It has always seemed to me that there is a mismatch between R’s perceived intelligence and these captivating eyes.

Twenty years ago, when I was still a graduate student, a number of my colleagues collaborated on a project with Dr Alison Kerr.  Dr Kerr, a now-retired paediatrician, was one of the first clinicians in the UK to take an interest and gain expertise in Rett Syndrome.  Dr Kerr was interested in establishing how well her patients with Rett Syndrome could see.

Assessing the level of vision of someone who is unable to talk or respond in any conventional way is a non-trivial task.  There are commercial tests available which have been used in patients with severe disabilities but these have all been developed primarily for infants.  Older patients may refuse to engage with these tests simply because they find them too childish.  Dr Kerr’s patients all refused to engage. What my colleagues did was to measure the electrical signals produced by the brain in response to some black and white check patterns using a few electrodes placed on the scalp (visual evoked potentials).  These can then be used to give an estimate of how well someone can see. The results were surprising: while some of the girls and women required spectacles and one had a squint, all had good vision*.  This was surprising because most neurological disorders are associated with a very high risk for poor vision.  Indeed, one large scale study concluded that people with learning disability should be assumed to have visual impairment unless proven otherwise**.  (Conversely, infants with visual impairment are at risk for developmental delay). For girls and women living with Rett Syndrome this is very good news and it is disappointing that this finding is not better known.

But it also raises an interesting question.  If the vision of our girls is good, then the implication must be that the visual parts of the brain are relatively intact (at least at the early stages, where these simple patterns are likely to be processed).  If the visual parts of the brain, which make up a large part of the cerebral cortex, are relatively intact, how much more of the brain is functioning well?  Until now, the intelligence of girls like R have been difficult to test.  Eye gaze technology brings the possibility of truly accessible cognitive tests tantalisingly close.  I put my money on my Mum being right all along.


*Saunders, K. J., McCulloch, D. L. and Kerr, A. M. (1995), Visual function in Rett Syndrome. Developmental Medicine & Child Neurology, 37: 496–504. doi: 10.1111/j.1469-8749.1995.tb12037.x

** van