The wider picture

We were at R’s annual cardiology review yesterday (Rett syndrome is associated with an increased risk of a heart problem called Long QT syndrome). The young registrar was relaying the GOOD news that everything was normal and I burst into tears.  And I mean really burst into tears – sobbing and gasping and stuttering and wheezing, nose running, the lot.

I know why it happened.  The doctor concluded by saying that everything was fine and that R would be reviewed again in a year.  But everything is not fine.  OK, so her heart is fine but R’s not fine.  R’s a very unwell little girl right now. And the doctors don’t seem to notice.

R’s care is managed by a series of specialists. Our local children’s hospital is a centre of excellence to which children with complex health issues from across the country are referred. R’s neurologists, for example, are based within a highly specialist paediatric neurology centre. (On the ward round last week, the consultant in charge asked his registrar what would be the best medicine to try next to manage R’s seizures.  The registrar looked horrified “but you’re the international expert in epilepsy, Dr M”, she said.  Of course, having been here many times before, I knew that there is in fact no wrong answer to this question.  Which is exactly what the consultant went on to say.)  There is a down side to this.  Each of these highly specialist doctors focuses only on the narrow area in which they are expert – the neurologist is focussed on her epilepsy, the gastroenterologist is concentrating on her digestive problems and so on.  They are not neglecting her and they are very alert to the wider problems that someone with Rett Syndrome may experience (for example, her neurologist has resisted prescribing the anti-epileptic Lamotrigine, and her gastroenterologist has steered clear of Domperidone because both are potentially problematic in long QT syndrome).  Nevertheless, it feels like no-one is taking a wide view of R’s care and her general wellbeing. When R was discharged from hospital last week, it was on the basis that the seizures had been addressed and that a plan of action had been put in place.  But she was still so very unwell.

I see this as an analogous problem to the one of the NHS IT system.  Most typical patients travel through the system in a linear way, remaining within one speciality before being discharged at the end of their treatment.  Patients with complex healthcare needs, like R, are not only not quickly discharged from the system but their care is undertaken in parallel by multiple specialties.  There is little actual communication between these specialities. In an ideal world, all the clinicians involved in the care of a patient like R would have regular review meetings. This is never going to happen.  But we should, at least have a designated clinician to whom we could raise any concerns and who would maintain an oversight of R’s care. This can’t be her GP because R’s health issues are too complex.  It should be her paediatrician but she has said that the neurologist is leading R’s care…

The cardiology registrar was very sympathetic.  She even went so far as to suggest that they might be failing R in her care.  But there was nothing really that she could offer to help us.  I left her office, tears still streaming down my face.

New year, new worry

It’s almost a month since I last posted. G suggested that I might want to censor some of the gloomier posts for the sake of the reader.  Right now, it feels that by doing so, I might just as well  mothball the whole blog. From a selfish point of view, I find sharing our experiences here cathartic. But I also think that giving a truthful account of our life with Rett syndrome is only fair to R.

It’s not that nothing good has happened recently. R enjoyed Christmas. She loved her hot pink headband with built-in headphones and her little night light, which projects blue and green stars on her ceiling. She enjoyed the pantomime and going out for dinner afterwards. Tonight, R laughed through the whole of James McAvoy’s CBeebies Bedtime Story (anyone who has ever heard R laugh will know that it can really make your day). But all the good stuff has been tempered by the fact that she is still unwell much of the time.

This week has not been a good week. On Monday, R stopped breathing. Not for long – 30 seconds maybe – but it happened several times and each time I laid her down. This was not her usual breath holding. This was something much scarier and she was unresponsive when it happened. We decided to take her to hospital (on the way in, she stopped breathing again and I had to stop the car on the hard shoulder of the motorway. In retrospect, I think that I should have called an ambulance).

It’s not clear that these episodes were related to her epilepsy, nevertheless that her seizures remain uncontrolled is a cause for concern. Her medicines have been changed again. Given that her epilepsy is proving hard to control and the periods of not breathing, I was counselled again about Sudden Unexpected Death in Epilepsy (SUDEP). We were advised to consider an anti-suffocation pillow and that it may be beneficial to obtain a monitor which will check her oxygen levels overnight. The potential benefits of a gastrostomy tube in ensuring that R gets her full dose of medication were once again discussed.

I’m trying to be rational. There is no point in being paralysed by anxiety over this.  SUDEP is very rare. Realistically, R is at low risk of suffocation because, while they can be very frequent, her seizures are typically quite short at present. But it’s incredibly difficult to set this worry aside altogether.

Rett syndrome is considered by clinicians to have 4 stages.  R is in Stage 3. This is known as the plateau stage.  It’s mis-named.