Mostly, these days, Rett syndrome makes me mad more than it makes me cry. But moments of complete emotional disintegration are sometimes unavoidable. They don't always happen at the most obvious times though. These days, I'm most likely to cry when I'm defeated by the 'system' - by bureaucracy, procedures, jobsworths who don't seem to understand what their job is actually for.
Take the whole business of getting repeat prescriptions for the sort of medicines Amy takes. It works like this. You see a consultant in an outpatient clinic at the hospital. They prescribe a drug: you take the 'outpatient medication referral' to the hospital pharmacy, get the medicine, go home and start giving it. Then you take a copy of the 'medication referral' to your GP, so they can add it to your child's notes. When you get near the end of the medicine, you ask the GP to re-prescribe it. You take the prescription to the community pharmacy (or, if everyone is working in civilised harmony, the GP surgery passes it direct to the designated pharmacy, so you don't have to be the endless middle-man), and you get the medicine, which may take a few days to be ordered and to arrive. That's the theory.
But it doesn't always work out like that. At the end of February Amy was prescribed Epilim (the brand-name for sodium valproate), the first-line drug for controlling epileptic seizures in children. It's been working well. Fewer obvious seizures, no obvious side-effects. At the beginning of last week, I asked our GP to do a new prescription. I gave them a few days, knowing that these things proceed at a stately pace.
On Monday, I attempted to pick up the medicine from the pharmacy. They had no record of it. I went to the GP surgery, where the receptionist told me the request had been 'rejected'. No, she didn't know why. No, I couldn't speak to one of the doctors. I explained that this was pretty important medicine for my daughter: she has seizures, and this controls them, and we're running out. The receptionist was unmoved.
Fast forward to the next day: I've successfully made contact with the practice manager. (No small feat, as they are shy types, in my experience.) She tells me it was a mistake, and the prescription has now been signed by a doctor and forwarded to the community pharmacy. I call the pharmacy; they tell me the medicine will be there by the end of the day.
Today: I go to the pharmacy to pick it up. They tell me it isn't there, and the pharmacist himself makes a rare front-of-house appearance to tell me that "it's not supplied". I ask what he means. He repeats it louder, and then louder. (I feel like the hapless native of a country visited by British tourists who think successful communication is all about saying simple English words as loudly as possible.) What he means, I think, is that he uses a single supplier, and that particular supplier doesn't supply Epilim, for some reason. Can't you get it from a different supplier, I ask. He looks baffled and says it's not possible. So what am I supposed to do now, I ask: my daughter needs the medicine. He tells me I need to get the original prescription from the GP (he has a faxed copy) and phone round other pharmacies to find one that will supply it. I leave. Crossly.
The kids and I trek wearily back to the GP surgery. The receptionist tells me that she can't give me the original prescription, because it was faxed to the pharmacy. (Yes, I know.) I explain, as patiently and unhysterically as I can, what the situation is: the pharmacist can't/won't dispense the medicine, so I need the prescription to take to a different pharmacy. No, I don't know which pharmacy. She eventually produces it, and I sign an incomprehensible-looking piece of paper to say that I've got it.
Back in the car, I put my head on the steering wheel and weep, in that defeated way you do when you think you're doing something simple and straightforward but it turns out to be anything but. Then someone is tapping on the window. It's one of the other receptionists. I get out, and she gives me a hug, and asks me what's going on. She tells me she will find a pharmacy that can supply the medicine. I thank her, soggily, and she tells me to hang on. Five minutes later she's back, with the name and number of another pharmacy, not far away, that's promised to have it for us by tomorrow.
I am very grateful, and am a bit of a state really. She's one of those older women who combines sympathy with a slightly terrifying efficiency. She looks at me, and at the girls in the back of the car, and says, "You mustn't let your children see you like this." I say, feebly, "But I hardly ever do this." And then she's gone.
And Abby is outraged. "Why did she say that to you? She doesn't get it! Me and Amy are VERY UNDERSTANDING." It's true: they are. And frankly, it's just as well.
WHAT IS RETT SYNDROME AND WHAT'S THIS BLOG ABOUT?
Rett syndrome is a neurological disorder caused by a faulty gene that affects mainly girls. Our daughter Amy was diagnosed with it in June 2009, shortly before her second birthday. She also has congenital heart disease. This blog reflects my family's experience of Rett and my own reactions to it.