Today is World Down’s Syndrome Day. Celebrated on 21st March, to salute the fact that people with Down Syndrome have three (rather than two copies), hence 21-3. Clever that!

The value of these sorts of days is somewhat debatable but I do love having a day when people with DS are made visible. There have been some lovely blogs from the community of bloggers that I belong to, Team 21, and it is great to see so many happy people and families. In our moments of honesty, we would probably all say it ain’t always easy but we know that we have children of great worth who bring as much and as little to the world as any other child. And as I have often said, I just wish AJ “only” had Down’s Syndrome.

Anyone up for Weird, Inexplicable, Undiagnosed Brain Damage Day? It would probably have to be celebrated on April 1st!


All about Ava

So, this post is just going to be about Ava-Jane, nothing else, no political rants, promise.

I have had the chance to go to a couple of AJ-related meetings this week. We saw her neurologist on Tuesday and then had her Annual Review at school today.

We’d been pressing to see the neurologist for a while. We had even been to one appointment and the receptionist forgot to tell the doctor we were there, so she went home. Now, I love the NHS, it has seen us through all sorts, but I did have to try not to feel too disappointed that this chap was still in a job when we returned this week. 

We have been worrying about AJ’s spasms that seem to be getting worse and disturbing her more. She has two separate things that could be epilepsy or could be dystonia. Ah, yes, that’s a whole load more medical we have to get our heads round, i.e. Google. Unfortunately they are both things that have loads of different types, so there is quite a lot of reading to be done. 

AJ has big severe spasms, Otto used to call them her “Ninjas” as it looks like she is about to do a massive karate chop. She also has a tremor on her right side, sometimes her right hand can be almost constantly moving.

She has been on a variety of medicines to treat both these things as well as the stiffness she has. Her medication programme is basically to try something out and gradually up the dose until we note either a beneficial or negative effect. And you’ve got to watch out that her anti-stiffness meds that are designed to make her too floppy, don’t make her so floppy that she can’t do basic things like sit up or wear a riding hat.  Fo is essentially in charge of her medication, the whole process is a series of educated guesses by the doctors and by us and Fo knows AJ better then anyone and can notice changes better than any doctor who might only rarely see AJ. And obviously she is a very smart woman, my Fo. 

The good news is that the tremors have reduced a lot, the bad news is that the Ninja spasms have got worse. It is quite difficult to gauge how much discomfort AJ feels. Her general demeanour is so joyful and she will always manage to raise a smile however much pain she is in. And obviously as she has not got much communication, it is hard for her to be specific about aches and pains. But these spasms are definitely causing her discomfort and also embarrassment. It is heartbreaking seeing her little face looking bashful and then giving one of her “no one, not Job, not Sylvia Plath, not Morrissey, has ever been sadder than this” faces. See below for examples of this face:


So we went to see AJ’s new neurologist. Her old neurologist has finally managed to retire. The very taciturn but wonderful Dr Pike was one of the original three wise men who saw AJ back when her brain damage first set in. He had been trying to retire for a while but kept on coming back to see AJ, partly I think because he found her a fascinating case. She was the first patients with whom he had used a Quaver as a diagnostic tool – he could test her right-sided brain functions by seeing if her vision would track her favourite cheesy snack down and to the right. She still has trouble seeing anything on her right, which was something we discussed with her school, more on that later. Though, I do like to think that Dr Pike (he did look a bit like a pike) also didn’t really want to retire because AJ is so damn cute.

But AJ’s new neurologist, Dr Ramdas, is young enough not to be retiring anytime soon, so she will probably be off on maternity leave just as soon as she has got to know AJ! She seems great but did not offer us any major breakthroughs – more fiddling with meds, trying another one and upping the dose, seeing what the outcome is and meeting again in three months’ time. I do still dream of a resolution, where a one-off pill or a slap round the head would just fix it and AJ would get her right side back and her balance restored. (For info: I don’t slap her round the head just on the off chance.)

So, on we went to AJ’s Annual Review on Thursday (if the times refs jump around in this post it is because I am writing it in chunks!). When we go for a parents’ evening at Otto’s school, you see one teacher, maybe two if they are job sharing, when we go to AJ’s; it’s a panel. We have social workers, visual impairment specialists, teachers, heads of department and therapists of various flavours – even without the physiotherapist, who couldn’t make it (“Again!” says Fo), we had a pretty full session. I do love the fact that AJ has all these professionals on her case. Her main teacher really does seem to be properly on a mission to sort AJ out.

The debate we always have in these reviews is whether AJ, who has both speech and mobility impairments, should be in a class with the speech impaired or the mobility impaired. I have always told her “If you need to get what you want, you either need to walk or talk. You can either get it yourself or you can ask someone to get it for you.” So, should we and her school focus on the walking or the talking? The general consensus seems to be: the talking. I really don’t think she is ever going to walk and she is absolutely lethal with her electric wheelchair. Her teacher said that they don’t really have any radiators left in the classroom as AJ has taken them all out, presumably along with quite a lot of staff shins.

But her talking is coming along. She has got a proper range of vocabulary and she is beginning to put it together into basic sentences. The aim for this year had been to move from two words sets to three words sets. So before she just had things like noun + intransitive verb: “Me go”, “Me eat” or noun + adjective: “black cat”. These utterances really don’t give you enough information to be really able to work with and help her much: “Me go… where?” “Me eat… what?” or “the black cat did what”? But if you can put three words together, you can say things like “Me eat cake” and with that, you can get quite far in life.

So, she is going to spend some time in a class where people are more vocal. The staff do have to weigh this up – to what extent it will be good for her to spend time with people who speak more even though it might not be so good for their progress.

One of the reasons for these Annual Reviews is to the review her statement to decide whether she needs more/less/different care. It’s all supposed to be very official but there is some sort of administrative thing going on, which means it is not worth making any changes to the statement but then all the people who know AJ best – us and the wonderful professionals who care for her – basically decide what would be best for her and then we discuss what the school can afford!

“New hat… Me ride April”


She has just got her first riding hat and she can sit up while she wears it and she is very proud of herself.

So, in conclusion… Ava-Jane will probably never walk or sit up straight unsupported but she might well be able to progress in her communication. Her spasms are not epileptic, epileptic seizures are caused by the brain and also damage the brain, so the thinking is that while they make her uncomfortable, they are not doing her lasting damage. We might happen upon a drug, a dosage or a combination of drugs/dosages that alleviate the spasms and the tremors while at the same time not impeding her. Ava-Jane enjoys life as much as anyone I know. Statements, medication, doses, blahdi-blah, yeah it ain’t easy but being AJ’s parent is the greatest gift I have ever received.