I’m one week into a fundraising challenge. I’ve signed up to do a 5k every day for 50 days. The money raised will go to Reverse Rett, a UK based charity that aims to fund research into treatments for Rett Syndrome.

I don’t believe that this is pointless (unlike the speech therapist who gave me the “sympathetic eyes” when I talked about treatments for Rett at a meeting last week). There is actually very good reason to believe that given enough time (and money) a cure will be found for Rett Syndrome. Meantime, treatments aimed at lessening the symptoms are already being trialled.

One of the drugs being trialled is ketamine*. You may know ketamine either as a horse-tranquilizer or a drug of abuse but it’s also – occasionally – used in human medicine, mainly as general anaesthetic. Very, very occasionally, it is used as an emergency medicine to stop seizures. There is some anecdotal evidence that girls with Rett syndrome can show a mild reduction in their symptoms for a couple of days after having ketamine as a general anaesthetic. There is also evidence that mice with Rett syndrome in the lab benefit from treatment with ketamine. The scientists speculate that ketamine triggers changes in the brain in Rett Syndrome. These changes may persist even when the drug is withdrawn.

R’s seizures started to increase again after New Year. About six weeks ago she was admitted to hospital again. We had run out of options at home; the on-call neurologist admitted that he was starting to run out of options too. The difficulty is that too many of the first-line medicines that can be used to stop seizures also stop R breathing.

R’s neurology team tried ketamine (they were aware of the trial in girls with Rett). She was started on a very, very low-dose of the drug for five days. Day 1, she slept. After that sleepy first day, R was much more alert and the seizures reduced. On day 6, following the withdrawal of the drug, she had several more seizures. Then she woke up.

I’ve written before about “awakenings” with new drugs. This was similar. R became hyper-alert and hyper-sensitive (to noise and to light) on the ward. Then her hands started to free up. She started walking with her hands swinging from her sides (when normally they are always clasped together). She said “bye-bye” (I cried) and then waved when I related this to the doctor (everybody cried). She started to nod (occasionally) and shake her head (more frequently) for yes and no (she hasn’t been able to do this since she was tiny.) Unlike the other “awakenings”, however, after more than a month, R is still doing well. It’s not a cure.  People who don’t know R may not even see the difference but to us it feels like a small miracle.

Was it the ketamine? Possibly. Its possible that the ketamine has reduced the hyper-excitability of the neural cells in her brain, leading to a reduction in seizures, which in turn has improved R’s brain function. Perhaps the ketamine has lead to persistent changes in R’s brain and the reduction in seizures is a side-effect of these changes. Perhaps it’s only a coincidence. Would further treatment lead to further improvements?   Who knows?

Good quality research studies are needed to answer questions like these. Research needs money. Reverse Rett are helping to fund clinical trials into drugs like ketamine.

So here I am running 50 5Ks for R and all the girls and women with Rett Syndrome.  All donations gratefully received:

*A drug like ketamine has significant advantages over many novel therapies. It’s an old drug, which means it is cheap and it has already been cleared for use in humans (although R’s treatment was off-label). Because it is a drug of abuse, doctors also have a very good idea of the safety of the drug and it’s unwanted side affects have been well documented.



Good things

R had another wee trip in an ambulance yesterday*. R has an ear infection and this was the outcome. No blue lights; no oxygen; blessedly no visit to resus. We are home and R is okay.

It reminded me, though, that I had been planning for a while to write about some of our good experiences in healthcare (there have been many and I am conscious that I have tended to focus mainly on the less good). In the week that staff in the NHS have been under the spotlight due to the junior doctor’s strike, it seemed as good a time as any to start.

Two things reminded me yesterday. The first was one of the paramedics who attended yesterday. We have now seen this man on no less than three occasions (Glasgow is a big city, at least by UK standards. Seeing the same paramedic on more than occasion is really not that likely. R has been in way too many ambulances). He was great. They all are. Paramedics see a lot of people. It amazed me that he not only remembered R, but also remembered her diagnosis and her associated health issues. It might be an odd thing to say, but being well known to the ambulance service takes a whole lot of the stress out of what is a highly stressful situation (I mentioned this to a member of staff in the hospital yesterday. She commented on my finding the positive in a difficult situation. Honestly, that is the first time I have ever been accused of that. I’m a glass-half-empty kind of girl.)

The second thing was a remark made by the registrar that examined R in the accident and emergency department. We hadn’t met this doctor before. He’s probably the only doctor in A & E that we haven’t (full house now, I think). He told me that he wanted to speak to one of his neurology colleagues before making any decisions. I asked who was on-call. I said that we knew him and that he knew R well. The registrar then commented that it was funny but when it came to neurology, it didn’t matter to whom he spoke about any of his patients but the neurologist always knew the patient and knew in detail their history. He said that he thought that neurology must talk to each other.

So, this is what I wanted to say: our local neurology department is terrific. They do talk to each other. They collaborate and cooperate. They actually seem to like each other – they joke with each other during that curious anachronism that is the Grand Round (obviously, strict hierarchy is nevertheless maintained; the most junior staff member is always the scribe). There may be ego and rivalry between consultants. What do I know? But if there is, it is always left behind at the door to the ward. We can always get in touch with a neurologist when we need to, even outside office hours. We don’t have to go through their secretaries either. This isn’t special treatment for R. This is how it is for any of their complicated patients. This is how our neurology department works. (On R’s last admission, one of the neurologists on-call was new. I was a little anxious. Turns out that he had undertaken some of his training in the department, knew his colleagues well, and the dynamic is unchanged.)

I know how lucky we are. We have experienced other specialities where things are far more tense and far less collegial. But R’s care is led by neurology. And I just wanted you to know how grateful we are.


*This was the first ambulance since October.  Things are definitely getting better for R.




Getting better?

I haven’t posted in three months. It hasn’t, it’s fair to say, been a very easy three months: more seizures, more ambulances, more time in hospital. This whole year has been grim, quite frankly. But I am very happy to report that there are signs that things might be improving for R.

Since January, I have suspected that tonsillitis was at the root of many of R’s worst episodes. It’s been difficult to prove. Until very recently, I favoured the “maternal thermometer” (maternal hand on brow) when determining whether my children were unwell. I considered myself to be pretty good at this but each time I took R to the GP convinced that she had tonsillitis, her temperature was below 37 degrees. R is difficult to examine and halitosis and a reluctance to eat are not taken as diagnostic so, in the absence of a temperature, she was rarely diagnosed with anything.

Whatever the GP thought, as her mum, I knew when R was ill. In fact, I had come to the conclusion (on the basis of no evidence whatsoever) that R’s baseline temperature runs low. I put forward my hypothesis to R’s doctors but things being how they were this year, I never quite got round to collecting any data to test it. Over the course of R’s month long stay in hospital in the summer, however, it was established that R’s usual temperature is indeed very low. A temperature of 36.5 degrees (well within the normal range) is a fever for R. On this basis, during one of her admissions in August, she was seen by an ENT doctor to consider a potential tonsillectomy.

The surgery was booked for October. Unfortunately, the week before the surgery, R’s seizures worsened again and she was re-admitted to hospital. I have read that you only realise just how long 30 seconds is when you watch your child having a seizure. It’s true. So imagine a seizure lasting for hours. R was very poorly. Her neurologists, determined that she would have the surgery did their best to put a positive spin on the situation for their surgical (and anaesthetic) colleagues.

I’m glad they did. In the month since the surgery, R has had only a couple of short seizures and none – NONE – in the last three weeks. The surgeon said that R’s tonsils were very scarred and shrivelled, a sign, they said, of many infections. Incredibly, having been increasingly unsteady on her feet, to the point where she was more or less full-time in her wheelchair outside of the house, R is walking well again. It feels like our own small miracle.

So now that these evil tonsils are out of the way, we can concentrate on getting R properly better. If only she would eat…




Back to School

I hate this time of year. It’s not that it’s the end of the summer holidays (we have had neither a summer nor a holiday this year). Rather, the return to school heralds another spike in infectious illness. R only has a cold but this has meant 5 ambulances in the last week alone. Unfortunately, August is also the month when the new junior doctors join the NHS*.

You can understand my frustration: I have spent 6 months (since the last rotation) training up the doctors on R’s behalf only to be presented once again with new ones. I may lack a medical degree but I have put in more hours in hospital wards, clinics and emergency departments than any of these fresh-faced neophytes. And while my expertise begins and ends with R, expert I surely am. My efforts have not gone unnoticed. On a recent admission, the examining doctor told me, amused, that she had been advised to “just do whatever mum tells you to do”.

To be fair, since the children’s hospital went “paperless”, things have improved. The junior doctors can access R’s recent discharge letters – and google Rett syndrome – before examining her. The best of these junior doctors realise that, even armed with the Wikipedia page on Rett, there is no shame in asking for more detail – generalisations can easily become unhelpful stereotypes. Too many of the young doctors that we saw in the past attempted to bluff their way through. (Paramedics, in my experience, never bluff and always ask for an explanation. Moreover, when we meet the same team again, as has happened more than once, they remember.)

If it were just the junior doctors who rotated, it wouldn’t be so bad but we are also faced with a raft of new GP registrars, who have never met R and don’t appreciate how complicated she is. Quite a number of these have no paediatric experience and, worse, have forgotten rule number 1 of paediatrics – listen to mother.

I found one new registrar particularly frustrating this weekend. We were not communicating well. When I asked “Have you spoken with the on-call neurologist about giving R medication for the cluster?” he was apparently unaware that the correct answer to this question is: “Yes” and the only acceptable alternative is “No, but I’ll get in touch directly”. Instead he replied “No. That’s not necessary at this point. I’ll monitor R for another four hours to establish whether she is really having a cluster of seizures”. (Four hours later, she was admitted following further seizures – in other words, she was having a cluster).

His junior colleague, however, had caught my drift. About 15 minutes later, she returned and whispered, conspiratorially, that she had spoken with neurology. I have high hopes for this one.


*Even with the technology available in medical schools today, it is still the case that a lot of learning takes place on the job. I understand this and, as someone whose veins are probably visible from space, invite any first year junior doctor to practice inserting a cannula on me. I just prefer them not to practice on R. (Very few junior doctors, I find, introduce themselves as such. The clues are in code on their name badges. I googled the abbreviations after a particularly harrowing experience where an FY1 (Foundation Year 1) was so focused on inserting the cannula that he completely failed to notice that R had stopped breathing.)

Happy Birthday

DSC_0210The girls both reached milestones yesterday: EB bought her first lipstick (a milestone in any girl’s life. The colour is a good deal more flattering than anything in my teenage makeup bag – it was the Eighties). And R turned 10.

R was excited about her birthday but the planned party has been postponed for the time being because she is still so weak. So we celebrated quietly. We had bunting and paper chains (I love bunting and paper chains).  EB made and distributed cinema tickets for a movie premier in our living room. R slept through most of it.

I’ve been neglecting the blog lately.  I’ve been waiting for things to improve (or even just stabilise).  They haven’t but I don’t think that I can let R’s birthday pass without posting an update .

It started with tonsillitis. The tonsillitis triggered seizures.  These seizures required repeated doses of emergency medication.  The medication put her repeatedly into respiratory distress: this is life threatening. The risks were made only too clear to us by the anxiety shown by the paramedics, nurses and medical staff who treated her.

The doctors tried a different tack.  A feeding tube was inserted via her nose into her stomach. The ketogenic diet was now to be given solely as a milk feed via this tube.  This would allow greater control.  The seizures stopped and it was decided that R should be scheduled urgently for surgery for a permanent tube which would deliver the feed (and medicines) directly to her stomach (a PEG).

Then the diarrhoea started.  Terrible diarrhoea. I have never seen so much poo.  Oceans of the stuff.  The doctors suspected the milk feed.  The feed was modified: dairy-free, less fat, less MCT oil. The diarrhoea continued.  Finally, on the Friday evening, after more than a week of diarrhoea and with her surgery scheduled for Monday morning, she was diagnosed with Colostrom Difficile (C Diff ).

I’d like to be able to say that the C Diff was treated successfully and it was happy ever after.  But that’s not how it has turned out.  Thankfully, R’s surgery went ahead regardless (and went well).  Getting R well again has proven more difficult.  At one point that week, with R lying unrousable, and weak from vomitting and diarrhoea, I genuinely thought that we might lose her.  She pulled through – thank God – but after two courses of antibiotics she’s still not free from the C Diff.  She is worn out.

So the birthday party has had to be postponed but we are hoping that she might be well enough to celebrate properly soon.

Happy Birthday, my lovely R. Here’s to a better year.



A new diet

IMG_0630 R had a better day today. Her walking is still unsteady (sometimes she was unable to walk at all). She’s still tired and feeling sick. All the same, today was a better day: after months of frequent seizures, many of them frighteningly long, today she had just one short seizure.

Only yesterday, the neurologist said, wryly, that the most positive thing that could be said about R’s current medication regime was that it had kept her out of hospital for 24 hours*. She is on her sixth epilepsy medication (three have been discontinued; she remains on three) and has been diagnosed (euphemistically) with “difficult to treat epilepsy”. It has been made clear to us that the likelihood of finding a drug that will control her seizures reduces with every new medication tried.

Before neurologists had anti-epileptic drugs, there was the ketogenic diet, a hard-core version of the Atkins Diet. High fat and low carbohydrate, the diet aims to mimic starvation. Improbable as it sounds, by doing so and encouraging the body to produce ketones (by burning fat and not carbohydrates) significant reductions in the number of seizures are seen in some patients. Fats, carbohydrates and proteins are strictly limited on the diet and the relative proportions of these must be tightly controlled. It’s not an easy option. The diet fell out of favour with the arrival of the first pharmaceuticals but more recently it has been used in children with seizure disorders that have not responded to conventional drug treatments. It is thought that more than half of patients can benefit from the diet to some degree. Perhaps 1 in 10 patients become completely seizure free.

We mentioned the diet to R’s doctors three weeks ago (during her last-but-three admission). If I’m honest, (and even though R’s neurologist leads the ketogenic clinic at the hospital) I expected the doctors to dismiss the idea. They didn’t. They said that it was worth a try. Indeed, while one of the drawbacks of embarking on the diet for patients is the lengthy (sometimes several years long) waiting-lists, R was started on the diet as an emergency.

R has been started on the MCT version of the ketogenic diet. This is a slightly kinder version that allows her her morning cornflakes. In this version, 40% of her daily calories will come from MCT oil, an oil that encourages ketone production more readily than other fat sources. MCT oil is difficult to tolerate and the run-in period to the diet is quite long. R reaches the full dose tomorrow.

It may be a coincidence that R had a good day today. It may be unrelated to the diet. But I can’t help but think (and hope) that perhaps the diet is helping.

*Signs that your child is being admitted to hospital far too often:

  • The paramedic says that he picked up the call because he recognised the address.
  • No-one in A&E takes a long history on arrival because they know the history already.
  • The nurses select the correct floor when you enter the lift without being told.
  • The staff in the café offer you a loyalty card.
  • You can actually sleep on the ward.

New developments

Please forgive any typos in what follows. I am writing this on my phone, perched precariously half-on, half-off R’s hospital bed. R is sleeping but her sleep is not sound. She needs to know that Mum is right next to her. When I started this blog, I wanted to share the good things that happen. I wanted a place to save these to leaven the days when the not-so-good things happen. Good things do still happen. R’s new carer (awkwardly for this blog, also R – so I’ll call her C) is a very good thing. R and C spent the first week of the Easter holidays shopping, going to movies, taking selfies in their sunglasses, generally having a good time. R enjoyed the brief hiatus from the seizure clusters that brought her back to hospital over a week ago. In a few long months, I have gone from feeling confident and expert in R’s care to feeling vulnerable and really inexpert in the management of her epilepsy. We have learned that epilepsy in neurological disorders like Rett syndrome is notoriously hard to control and that bad as things are at the moment, the neurologists are pessimistic about any improvement. We have learned that R is very sensitive to several of the medications commonly used to arrest long seizures and clusters of  seizures. R hasn’t had a seizure in 48 hours (another good thing) but she isn’t going home yet because she has stopped breathing too often for her doctors to feel confident about discharging her. Oxygen monitors are in too short supply for us to be given one to take home. (Politicians  – for all your claims about increases in funding for the NHS, I’m afraid to say that the benefits are hardly being felt in paediatric services. This might not win you quite as many votes, but in my view being able to provide machines to monitor a  child’s breathing overnight should be just as much of a priority as funding expensive new drugs to older adults. Just a thought). So here we are. And here we are likely to stay for a little while yet.

Update (6 May 2015)

This morning G phoned a charity called The Daisy Garland.  This charity supplies oxygen saturation monitors to children with epilepsy who need them. They generally meet to consider applications 4 times a year, however, G explained our circumstances and the lovely lady at the end of the phone said that they might be able to consider R’s case as an emergency.  This afternoon they emailed to say that our application was successful.  With a fair wind, we should have the monitor on Friday and R will be able to go home.  A really, really good thing.

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.