Towards treatment

I don’t read as much as I would like. There are two barriers to reading. The first is time: by the time R is settled in bed at night, I am generally too exhausted to pick up a book and all I want to do is crawl into bed and get as much sleep as possible before she wakes again. The second reason is, tired and brittle as I am, I find the themes of many books that I would otherwise enjoy upsetting or stressful and it is narrowing my options. Even Jane Austin can only stand so many re-readings (It’s the same with television – I seem to be doomed to watching only Richard Curtis movies and Miss Marple on ITV3.)

Mostly, then, I am reading children’s stories to R. Had R’s development not been disrupted by Rett, it is likely that, at nearly 10, I might well have stopped reading her a bed-time story by now. I might well have expected her to read independently and this would have been a great shame. I have tried to introduce her to good quality classic children’s literature but she is not much enthused by Mary Norton, Frances Hodgson Burnett, and the like. What R really likes is Enid Blyton. I loathe Enid Blyton. After numerous Secret 7 (just awful), and St Clare’s (worse), we have alighted on the Adventure stories, which I loved as a little girl, and which I am relieved to find are still quite readable.

During R’s recent illness, I did, finally, find time to pick up a book for myself – R lay unconscious in the hospital for several days and there was little to do but read. I grabbed a large volume that had lain unread beside my bed for months: Far from the Tree by Andrew Solomon. Frankly, the subject matter seemed unpromising. The author spent many years interviewing families with “difficult” children – e.g. children with disabilities, children with mental illness, and children who had committed serious crimes, and gives an account of their experiences.  But the book is thoughtful and wise and in the end, largely optimistic about the experience of parenting many of these children (although I would have preferred that he had refrained from describing how ageing parenting a disabled child can be quite so often).

A recurring theme in the book is whether or not parents of children with disabilities should seek a cure.  A number of the children interviewed argue that, by offering a cure or in some way ameliorating their disabilities, their parents are diminishing them.  They argue that parents should accept their children entirely as they are, including their disabilities.  The last few weeks and months have seen a number of promising developments towards treatments for Rett Syndrome. I am cautiously excited about this but according to this view, I am seeking treatments not for R but for me.  As Solomon acknowledges in his book, many of the individuals sharing this view had the most minimal disabilities – can someone with a very mild form autism really speak for someone who is very disabled by the disorder?  Certainly, some of these children had been subjected to painful and ultimately unhelpful procedures but in most cases, I suspect, the parents were motivated by love and not by disappointment.

R has been unwell for over six months. It is painful to watch. She is very unsteady on her feet and now uses a wheelchair in school, having previously never used it in class. I would give anything to find something to make her feel even a little better. I do not, however, love her less because she is unwell.  It is worth considering moreover that if R had an illness like cancer and I refused any intervention, I might even be taken to court (consider the recent case of Ashya King). No, when (safe and effective) treatment becomes available, I will seek it out.  But it will be for R, not for me. I love R exactly as she is.


I told you she was ill

G pointed out last night that I left things on a cliff-hanger when I last posted. In my darker moments, I am reminded grimly of Spike Milligan’s epitaph. R was indeed ill.

Since I last posted, R has had scarlet fever, tonsillitis, and now has a clinical diagnosis of glandular fever. She has had two admissions to hospital, both by ambulance, including one with blue lights (the blue lights being switched on half-way to hospital, with her Dad driving behind, an experience which has appeared on the bucket list of no parent ever). We have undergone resuscitation training, during which I was tasked with picking out the mannequin that most closely matched R in size (not on my bucket list either.)*

Despite all of this, I do actually feel a little more hopeful than I did three weeks ago.

Firstly, R’s general health issues are now being addressed.  Even on her first admission to hospital, she was still being considered only as a neurology patient.  Neurology is one of the last remaining specialities for which the importance of clinical history taking still seems to outweigh diagnostic testing.  The result of which, for R, is that standard clinical tests are often never carried out, and underlying health issues may never be identified.  It was a general medical registrar in A&E on her second admission who identified the enlarged spleen, which pointed towards glandular fever.

Secondly, R’s neurologist was at a conference at the start of last week, not in and of itself typically good news.  When he returned to lead the Grand Rounds on Thursday, however, he told me that he had taken the opportunity to raise R’s case with a Rett specialist at the conference.  R was initially admitted because she had stopped breathing and become unconscious. This was attributed to problems in the autonomic nervous system (which characterise Rett Syndrome.)  This is difficult to address and doctors usual approach to these issues is to offer what Rachael Bloom of Reverse Rett calls “the autonomic shrug”.  This time, however, R’s neurologist is going to try a different anti-epileptic medicine, which his colleague has found to improve symptoms in some patients with Rett.  Changing R’s epilepsy medications is not trivial.  It will take several weeks to wean her off two of her current medications and start her on the new medicine.  We are likely to (and have already) seen an increase in seizures.  And of course R is still far from well.  But maybe, at long last she is getting there.

*This cannot be the favourite occupation of the resuscitation officer either.  I cannot praise highly enough, however, the sensitive and practical way that she approached this session.

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.

Making plans

I am procrastinating. What I should be doing now is planning for R’s Christmas. By this, I do not mean buying Christmas presents. No, the planning is the more mundane task of ensuring that we have medicines, documents and protocols in place in the event that R becomes ill again when we are away from home over Christmas.

I am not by nature an organized person. The cliché is that mothers make ideal employees because motherhood teaches organizational skills. I’m not convinced. I do think that to survive as a carer, however, developing some skill in this area is essential.

Take medicines. Several of R’s medicines are unavailable from the pharmacy at short notice. Moreover, R’s GP requires not less than 48 hours to issue a prescription. Together this means that it can take up to 5 days to obtain the medicine. The medicines that R takes on a daily basis could, in theory, be ordered automatically by the pharmacy on our behalf. This doesn’t work in practice because R’s medicines are continually changing (dosages and drugs) and because R gets some of her medicines at school and needs to have duplicate prescriptions for school. Some of the medicines are prescribed on an as required basis and therefore need replaced on an unpredictable schedule. R has paracetamol suppositories (a wonderful innovation because when R gets sick she refuses to take any medicines by mouth and consequently gets sicker). These come in boxes of 10, which if she is poorly, don’t last long. I am constantly requesting prescriptions.

R is struggling with seizures. Her most recent emergency hospital admission was less than a week ago. Her seizures are coming in clusters. The rescue (emergency) medicine that she has been prescribed is giving her only brief respite (a matter of hours) before the seizures resume. The concern, expressed by the doctors, is that these clusters could become continuous seizures – status epilepticus – which can lead to brain damage or worse. We live only 20 minutes (less by ambulance) from a specialist center for paediatric neurology. My parents live almost four hours away from one.

So for this reason, I need to make plans. I spoke yesterday with the hospital. R’s seizure management plan has been amended and extended. She has been prescribed a second emergency medicine, which we will take with us and which is to be administered in the event that the first is ineffective. We are to phone the on-call neurologist directly. I am gathering hospital letters, drawing up a list of current medications dosages and diagnoses and general information on R and Rett syndrome for the paediatricians up north, should R take ill. I have ordered repeat prescriptions of everything.

None of this is making me feel very festive. Until yesterday, I had barely started Christmas shopping and I am still behind. This is not how I want to be counting down to Christmas with R.

Respite 2

I had a headache last night.  It felt like someone was gently tapping on my meninges with an ice pick, just above my left eyebrow.  I don’t get migraines very often, probably because the usual trigger for my headache is a reduction in stress. And since I am stressed pretty much all of the time, I stay largely headache-free.  So why yesterday?  Because yesterday we had some respite. Following a brief visit last week, S came to help. We have agreed that she will come once a week for three hours to give us some home-based respite.  To be honest, I wasn’t sure how this would work.  S’s job is to support and care for R while the rest of us get on with our usual after-school activities.  I thought that it might be awkward.  I thought that she might be (or feel) in the way.  I wasn’t altogether convinced that it would be much help.  But it was. S read R stories, fed her a snack, tried to persuade her to use her Tobii and followed her around the house as she wandered from room to room, keeping her safe.  S did everything that I do while I tidy the kitchen, make the dinner, encourage EB to start her homework, help EB with her homework, separate F from his phone and do the laundry. Best of all, because S fed R her dinner, for the very first time since she was a baby, last night we sat down to eat together. R was initially a bit unsure.  But she quickly warmed to S and it was clear that she was rather enjoying the attention. S helped get R ready for bed and read her a bedtime story before she left.  EB found the whole thing rather thrilling.  She says it’s like having a nanny.  I am rather thrilled too.  Just not about the headache.

I want to be a scientist

R has just had her annual review meeting at school.  This was one of the best of these meetings that I can remember.  Everyone who was at the meeting now agrees that R is cognitively able and can learn.  No-one mentioned the need for a sensory curriculum (hallelujah). The meeting concentrated instead on how the school can best support her in her learning (*actual learning*).  Her teacher reported that R refuses to use her Tobii Eye Gaze in school.  Or more accurately, that she uses it only to tell her teacher that she wants to do something else or quits out of the programmes altogether (thereby demonstrating to everyone that she knows perfectly well how to use it).  This is frustrating for her teachers and for us.

EB has a chemistry test tomorrow.  She remembered about the test half an hour before we had to leave for gymnastics training. So, as EB ate her dinner, I quizzed her on the material.  R was interested as she often is when we are doing homework like this.  A few weeks ago, for example, EB had a history test.  The topic was “The Triangular Trade Route“.  R appeared to be listening but as I repeated the questions over and over again she began to get agitated.  EB was sure that R wanted a turn.  I asked her about Glasgow’s Tobacco Lords giving her two options to choose from each time.  She got every question right.

Tonight, I thought that I’d try again.  We had been talking about the three states of matter – solid, liquid and gas – and their properties.  I quizzed her on these. She had been listening.  As an experiment, I asked her a question on the periodic table that we had touched on but not discussed in detail.  She looked at both options, looked at me and walked off.

EB was very impressed.  She asked R if she wanted to be a teacher when she grew up.  R looked aghast and “said” no.  Then EB asked if she wanted to be a scientist.  R “said” yes.

Tonight, R and I told her Dad about the chemistry test.  R answered the questions again. I said to her Dad that R wanted to be a scientist and then I told R about Stephen Hawking.  I told her that he is unable to talk or to use his hands but communicates using his Tobii.  I told her that he is one of the most famous scientists in the world.  I told her that she could become a scientist but she would have to use her Tobii too.  And R just kept on pressing the “no” button on her Yes/No talker.

I don’t know why I’ve never done this before but I suddenly had the idea of showing R a video of Stephen Hawking.  I showed her his TED talk on my phone.  R looked amazed; in fact, she nearly fell off her seat.  She was squealing and grabbing at the phone in excitement.  And it occurred to me then that R really hadn’t, until that point, grasped the fact that the Tobii could allow her to say, well, anything.

I don’t doubt that tomorrow R won’t want to be a scientist.  She will want to be an artist or a writer or a ballet dancer.  It doesn’t matter.  What matters is that R might just be beginning to see the point of the device that she has, up until now, ignored in our living room.