Awakenings

R stopped speaking the autumn after she turned two. She was never fluent.  In fact, we had formed the impression that her vocabulary wasn’t enlarging but rather new words replaced old ones.  Still speaking to not speaking was not a good sign. Unable to get R’s case prioritised at home, we consulted with a neurologist in Germany who ordered an MRI scan and a sleep EEG (both under sedation).  The MRI scan was normal.  The EEG was not.  The neurologist’s view was that R probably had Landau-Kleffner Syndrome.  Landau-Kleffner Syndrome is a form of epilepsy associated with a regression of language, which produces characteristic wave forms during sleep. While Landau-Kleffner Syndrome is difficult to treat, it is potentially treatable. In Germany, the first line therapy is a drug called sulthiamine, and the doctor recommended that R be started on this drug without delay.

R’s neurologist at home was unconvinced by the diagnosis.  In any case, he said, an EEG carried out under sedation is likely to show different waveforms from true sleep.  While we had to admit that this sounded reasonable, we were desperate to try the treatment.  He relented and agreed to a short trial of the drug. And something miraculous happened.  R started to talk again.  In fact, over the course of two weeks she spoke more unique words than she had ever done before.  We noted them down.  We recorded more than forty. She was more alert than she had been in a year.  And then she stopped talking.  The neurologist was doubtful that there was any benefit to R remaining on the drug and she was taken off it.

We remained convinced that the drug had helped R and sometime later, and following her diagnosis, we persuaded another doctor to prescribe the drug on a trial basis.  Once again R became immediately more alert.  We were in the park a couple of days later, when we walked past an ice cream van.  R shouted “ice cream” excitedly from the buggy.  It was the first time that she had spoken in months.  Again, it was the first of a substantial number of words.  And again, after a couple of weeks the words stopped and so did the treatment.

The following January, R had her first seizures.  These had a profound effect on her, leading to a rapid deterioration in her skills.  When she was discharged from hospital, she could no longer chew food and there was concern regarding the safety of her swallow.  Given that she had tolerated the drug in the past, R was started on a course of Sulthiamine. She did well (although she didn’t talk again) and 5 years later she is still on it.

All of the above was brought to mind again over the last couple of weeks.  R has been gradually weaned off Epilim and Topiramate  (2 other anti-epileptics) recently.  When she was down to a tiny dose of the Topirimate only (the Epilim having been stopped a couple of weeks before), she started to vocalise, with clear word like noises (not babble; more like a real attempt at speech).  School commented on her alertness (and how giggly she was). It didn’t last of course, R got sick again and the noises stopped.

Back in the early 90s, I watched a film called Awakenings.  The film, which starred Robin Williams and Robert De Niro, was a fictionalised account of the book of the same name by the neurologist Oliver Sacks.  While working as neurologist in New York the 1960s, Sacks had experimented with what was then a new treatment for Parkinsonism – L-Dopa – on a group of patients rendered catatonic for decades by a “sleeping sickness”.  The effect of the drug was miraculous but transient: L-Dopa effected a “cure” but only for a short time after which the patients became once again catatonic. In the film at least, the trial began with a single patient, Leonard (played by Robert De Niro) before being rolled out to a number of others.  One of the most affecting things about this story was that this latter group had to watch as the effect of the drug diminished for Leonard in the knowledge that they too would soon be “sleeping”.  I have no doubt that R is smart and that she understands what is going on.  It kills me, then, that her joy in these short-lived “awakenings” from Rett must be tempered by the knowledge that they are just that.  A cure can’t come soon enough.

One for each hand

Its a peculiarly Glasgow thing, I think.  Small child is offered something, biscuits usually – rice cakes if you are a West End mum – and given “one for each hand”.  When F and EB were little, they thrilled at being given not one but two treats.  This ritual is tough on R who has really no hand use at all.

As in immigrant to the “dear green place”, I can confirm that Glasgow deserves its reputation as a friendly city.  No matter how curmudgeonly you are, it is almost impossible in Glasgow not be engaged in conversation on the bus, in the shop, at the park.  Visitors to the city, always comment on the genuinely friendly taxi drivers, even if they don’t always understand everything they say. (Taxi drivers in Glasgow are really special.  As a student, I was once harassed while waiting for a bus at a deserted bus stop late at night.  A black cab was driving past, saw what was happening, stopped and offered to take me home.  When I protested that I couldn’t afford the fare, he told me that he didn’t expect me to pay, that he and his colleagues were Dads themselves and that if I ever found myself in that situation again, just to flag down a cab. They would always take me home.)

Needless to say, in Glasgow, staff in shops usually like to have a wee chat with your children.  In response, F is taciturn, EB blushes and R …  Well, right there is my problem.  The conversation goes like this: “Hello, beautiful.  What’s your name, gorgeous?  Not speaking today?”  And I genuinely don’t know what to say.  If I say “R can’t speak”, then I risk embarrassing the sales assistant, and quite possibly R.  If I say nothing, then I still risk embarrassing R.  So what do I do?

We had one of those rare sunny days this week that demanded a trip to the ice cream shop after school.  I put R in the buggy and EB and I set off.  The girls were both in their school uniform and a number of people stared at R, clearly old enough for school and yet still in a buggy.  EB found this rude (it was) and asked whether she should stare right back, and, perhaps drunk on stratiacella ice cream, I said that she could. My supermarket dilemma is much more difficult.  There, the sales assistants are just being friendly.

Today, R and I visited Waitrose.  We don’t go there a lot but its often easier when we are alone.  Most supermarkets don’t provide trolleys suitable for R or baskets that can be held while pushing a buggy.  The Waitrose store is small enough that R can usually manage to walk and if she can’t then I don’t have far to carry her. In Waitrose, you are given a token when you pay which you then drop into one of three containers depending on which of three charities you wish to support this month.  Children enjoy this ritual.  At the check out in Waitrose today the friendly assistant chatted to R, asked her her name and then produced two tokens – one for each hand.  I muttered our thanks, grabbed the tokens, grabbed R and rushed for the door.

Thinner

Tonight, as every night, I cuddled with R as she dropped off to sleep.  Cuddling her, I could feel her sharp little shoulder blades dig in to me; her sharp little elbows too.  R is getting thin.

Young Lofflers

Image Credit: Mark Williamson, Fochabers

It wasn’t always like this.  R used to be quite chubby.  As a toddler, her jeans struggled to contain her little belly. Small and chubby, she was very cute. For several years she grew steadily along the 2nd centile on the growth charts for  height and weight.  Small, but still within the normal range.  Recently, she has fallen off the charts for both. In the last 3 months she has lost more than 1kg and she is still losing weight (this is equivalent to my losing half a stone, only, of course, that I am not supposed to be growing).

At her neurology appointment on Thursday, a PEG was mooted once again.  For readers unfamiliar with such things, PEG stands for Percunateous Endoscopic Gastrostomy. This is a feeding tube which is inserted directly into the tummy.  Food, fluid and medications can all be administered through the tube. The subject was initially broached before Christmas.  R had all but stopped taking her medicines.  We had tried liquid forms, tablets and granules.  She was refusing them all.  This made her unwell and the more unwell she felt, the more she resisted taking her medications.  Her neurologist mentioned  a PEG.  He said that, in his experience, girls with Rett sometimes simply stopped eating.  A PEG would allow the medication to be administered and could be used to supplement or replace food or fluids should that become necessary.  (This last is important.  There is an additional concern that R’s fluid intake may be insufficient.)

Having a PEG fitted is a big step to take.  According to CEN* (the National Managed Clinical Network for Children with Exceptional Healthcare Needs) criteria, the simple insertion of a feeding tube would take R from the category of complex to exceptional healthcare needs overnight.  For many healthcare workers, the insertion of a PEG is just another routine intervention. It’s not for a parent: feeding your child is a fundamental part of being a parent. (Such is the impact of tube feeding on parents, CEN have developed educational resources to help healthcare workers understand how this affects families). I’m not sure that I’m quite ready for the increased medicalisation.  G definitely isn’t.

Something does need to be done.  At dinner tonight she ate no more than a bite of roll, which she let dissolve in her mouth rather than chew.  Her neurologist is trying a different medication, in the hope that her loss of appetite is due to the Topiramate which she has been on since the start of the year.  This requires R to be weaned off the Topiramate first.  Meantime, R’s still getting thinner.

 

*Declaration:  R is pretty much one of the faces of CEN and we are pictured on the home page.  Don’t say that you haven’t been warned.

 

 

T-shirts

There cannot be too many children who have more t-shirts than R.  I considered illustrating this post with a picture but the t-shirts are crammed in so tight on her shelf and the overall effect is so chaotic that I am frankly embarrassed. The cause of this state of affairs is really not that R has benefited from so many hand-me-downs from EB, although there are a few.  And its not that she isn’t growing.  She is, albeit that she is very undersized for a nearly-nine-year-old. Its not that she needs them all (she does need more than EB, who could go on holiday for a fortnight with a couple of t-shirts and a pair of shorts). No, the real reason is that R is so hard to buy presents for.

G’s mum is, to my mind, the archetypal German Oma.  She loves to spoil the children.  She loves to feed them Kuchen and Haribo.  She loves to buy them presents.  F and EB were easy to buy for when they were younger: Lego for F, felt tip pens and notebooks for EB.  Oma has, understandably, always found R very difficult to buy for.  R enjoys books but she has never enjoyed German children’s books.  The picture books that Oma bought for R were curiously kitsch and joyless and R didn’t like them at all.  It wasn’t Oma’s fault: G and I looked in the bookshops too but we couldn’t find anything either. (R liked the music better: we listened to Nena’s – she of the 99 red balloons –  Unser Apfelhaus a lot when she was little and she still enjoys Donikkl’s Fleigerleid.)  Toys, though, are tricky because its so very difficult for R to play with them. This is not to say that she doesn’t appreciate them when she gets them. For years, R would stare pointedly at Sylvanian Families whenever we were in a toy shop.  We eventually bought her a couple of figures which sat on the window sill next to her bed.  We weren’t sure that she ever noticed them. EB was quite sure that she didn’t.  One day, EB told R that they should share the figures and took one away to play with it.  R starting screaming in fury and didn’t stop until EB returned the little animals to their place on the window sill. Oma remains doubtful about this, however, and so every time a parcel arrives for the children, she includes another t-shirt for R. Or possibly three.

R has been invited to a party on Sunday.  Three of the little girls from R’s (special) school are celebrating their birthday.  I know the girls only slightly.  I really have no idea what they enjoy and I don’t want to buy presents that they would find no use for.  Its so much more complicated than buying for one of EB’s friends. Its so much harder to get right.  I had half an hour between finishing work and picking up R today to find  the presents. I found myself in H&M looking at the t-shirts. So I bought them each a hat.