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Web person at the Imperial War Museum, just completed PhD about digital sustainability in museums (the original motivation for this blog was as my research diary). Posting occasionally, and usually museum tech stuff but prone to stray. I welcome comments if you want to take anything further. These are my opinions and should not be attributed to my employer or anyone else (unless they thought of them too). Twitter: @jottevanger

Thursday, December 22, 2011

Three years with Spinal Muscular Atrophy III: one parent’s take

Since people reading this post are probably not regular readers of ths blog (who is?), a quick word of warning: I don't do concise. I could have split it into multiple posts but that's just cheating, so this is what you get.

This post could alternatively be entitled 4½ years with SMA type III, or even 6 years, but last month our third and youngest child turned 6 and shortly before that was the 3rd anniversary of our getting the diagnosis of his condition, which had first become noticeable (but unrecognised) when he was about 18 months old. It feels like a good time to talk a bit about what has happened in the interim, not least because I know that as a parent receiving a diagnosis of SMA type III it was difficult to get a grip on what it would mean for our child and for our family as a whole (we have two older children, aged 8 and 10 as I write). Perhaps by putting this out there it might come in the way of some other mother or father anxiously googling the diagnosis they have just had for their beloved child, and maybe reading about our experience will, if not console them, then thin out the terrifying cloud of the unknown that seemed to suddenly appear before us. No two cases of SMA are the same – it is a spectrum disorder (type III is at the mild end), and you cannot take one experience and expect to see the same pattern elsewhere. All the same, hearing about a single case is better than hearing about none. I also wanted simply to celebrate our kid, whose disability is merely a strand of his life and whose character and spirit, experiences and growth are unique, beautiful, special – just like those of our other two children. SMA is not the definition of his life but an aspect of reality for him (and to a lesser extent for all of us). So this is going to be a few snapshots of his and our experiences over the last three years, including a few pictures and videos, to generally illustrate that you too will cope and your kid will thrive in their own way.
To kick off, and coz I love all three of them, here's a snap of our lot a year ago:

What is SMA?
I need to take short step back first for some explanation of SMA. I would recommend that you do NOT pay this much mind if it is important to you, because I am not a doctor and am writing from memory and personal experience, not from a book (coz I’m on the train). There are also very detailed resources online but it can be hard to know from these what to actually expect for your child, or when, so talk to your specialist. A good starting point, though, is the Jennifer Trust for SMA website
For those who have not come across Spinal Muscular Atrophy (like my wife, Fiona, and I before we met the consultant for the first time), it is a degenerative neuromuscular disorder. We discovered that there are a lot of these. Some such disorders, such as the various muscular dystrophies, affect the muscles directly. Some affect the nerve fibre, like Multiple Sclerosis. SMA also affects the nerves directly, but by disrupting the junction in the spinal cord to the motor neurons leading to the limbs and thorax. A muscle is made up of bundles of fibres each with their own nerve fibre, and those without a properly firing nerve obviously don’t work and that fibre will atrophy, leaving the muscles themselves weaker. The pattern tends to be of it affecting the upper part of the legs, arms, and respiratory system (in that order). At present there is no known cure for SMA. As I say, the condition presents in a spectrum of severity but is classified into three types on the basis of the timing of its onset, as well as “adult onset SMA” which appears to have somewhat different causes and effects. At the mild end is type III, in which children start to show symptoms around 18 months. They are likely to be walking prior to onset and it is the deterioration of their mobility together with lots of falls and difficulty in getting into a standing position that are the likely signs that will have parents looking for answers. The weakness may affect the arms or breathing too, although probably later and not as severely as in type II. In type II symptoms become evident around 6 months, I believe, and the child is unlikely ever to walk. As it progresses the arms will likely also be affected and later on possibly the respiratory system too, shortening life expectancy. Type I is evident from birth and tragically is generally fatal in early infancy. I feel quite callous writing that, because I know that there might be parents who read this who face that world-shattering prospect and I do not. If this is you, I hope you will accept my sincerest sympathy and most heartfelt wishes for happy times with your child.
SMA has a genetic basis with (AFAIK) no significant established environmental factors that influence its onset or its progression. It is recessive, meaning in essence that both parents must be carriers of the mutation. Perhaps surprisingly the mutation is estimated to be present in around 1 in 40 of the population. The maths of this means that on average 1 in 1600 couples will both possess the gene. Assuming that they are both carriers rather than having 2 copies of the faulty gene (in which case they would themselves be affected by SMA), there is a 1 in 4 chance that any given child of theirs will have 2 copies of it. Which is how it came about that Fiona and I have two children without SMA and one with. The result is that around 1 child in 6500 is born with SMA – about 100 kids a year in the UK. Not a trivial number, but not so many that you are likely to have come across many of them.
Enough background, then. To our story.

There’s a problem
To start with we just noticed that Kid3’s feet appeared to have turned in and his gait was changing, with his feet moving further apart. This was at around 1½ years old, and on the advice of Fiona’s father (a very experienced GP) we had him checked out. In short he ended up with splints to support his feet. These did appear to help somewhat, but it became clear that his legs were still not doing what they should. He would fall over frequently, often with his legs folding underneath him and his head hitting the ground. He’d get to his feet by walking his hands up his legs (the “Gower’s sign” typical of SMA). He still couldn’t climb stairs by an age where children can usually do this. He also had a hand tremor, sometimes visible, sometimes just felt, sometimes not evident at all, and we associated this with emotional moments – excitement, upset. My father-in-law recommended that we arrange to see a paediatric neurologist, and now I know what his fears were.

We went with Kid3 and Fiona’s father to Addenbrookes Hospital in Cambridge for a consultation, during which the names of various conditions came up, mainly SMA and muscular dystrophies of various sorts, with Duchennes the only type that really fitted the symptoms. I’d read and heard a little about the MD but with its many forms I hadn’t quite registered what the implications of Duchennes might be, but it was clearly a strong candidate. It was clear now that our little boy’s condition was not one of slack tendons or anything other than a serious neuromuscular issue, which I’d not really wanted to countenance before. Fiona was more aware than I of what it meant, and it showed in her reaction. A blood test for a protein would be a first step to confirm whether Duchennes was likely, along with genetic tests for that and for SMA, and we went straight off that day for the blood sample to be taken – in itself a painful sight. We understood that it would take several weeks for the genetic test to be done and left expecting a wait. In something of a daze we went home incapable of doing or thinking much. We had my parents-in-law to support us and gently talk us through what it all might mean, but I think I still didn’t really get it properly.
The next day at work I spent the morning looking up Duchennes and the horror grew and grew in me. This is a condition that, I learnt, might see our son immobile before his teens and dead by 20. The world was falling apart and I was being hollowed out. But not long after midday, Fiona rang and told me that the protein test had already been done and ruled out Duchennes MD, and that the consultant had wanted to let us know as soon as possible so that we would not go through the agony of thinking that was the likely diagnosis for longer than necessary. He later told us that he really had thought it the most likely candidate. I don’t need to spell out for you the feeling of relief we shared. I didn’t really know what SMA might mean, though it was now the obvious candidate, but I did know things looked markedly less bleak than they had. A colleague came round at about that point to talk about some work thing or other and I just cried with relief on his shoulder. And that was the end of easily the worst few hours I have ever experienced, which ended effectively with a diagnosis no-one would wish for but with, at the same time, an insight into what might have been, and into the feelings of a parent being told their child’s life would be cut short. In some way this has stayed with me whenever things have been difficult. It’s not enough always to say “ah well, it could be worse” when you are brought face-to-face with a new consequence or worsening of your kid’s condition: that still hurts like hell; and yet, I thank my stars for what we and he have.

Facing it
There were then electrode tests to understand the strength of the nervous impulses in our son’s arms and legs. The results fitted with the SMA diagnosis, which was confirmed by the genetic test. At our next meeting with the consultant we talked through what type III SMA would actually mean, what research was underway, and what our next steps might be. Perhaps the hardest thing, in terms of understanding the implications of the diagnosis for Kid3, was (and is) dealing with the unknown, because the “progress” (degeneration of the nervous connections) varies so much and you’re desperate to know what to expect and when. Scratch that, actually. The hardest thing? Powerlessness. You want to be able to do something, anything, to make a difference. To be entirely dependent upon other people (never mind the fact that they can’t do very much, at least in terms of providing a cure) is difficult, but I suppose it was also being able to get to the bottom of the question: is there actually anything I can be doing? Am I missing any opportunities because I haven’t asked the right questions – is there a clinical trial, a scheme, that we’ve missed? I cannot speak highly enough of Dr Verity, the consultant we had, and his advice and the efforts of my father-in-law to discover everything possible about SMA, to interpret it for us and reassure us that we were not missing anything, these were so valuable. Still, we had a long journey to accommodate the new reality. I won’t attempt to describe that journey, and Fiona and I certainly handled it differently at times. I will say that the support of family and friends was immeasurably important, but in the end the only way to move onto a new phase was for us to gradually absorb the idea that this is simply our “normal”, not an acute situation that could be addressed and put behind us. Instead, what our son would regard as the normal state of affairs from his earliest memories needed to become that for us: something where the practical implications and needs of the situation are handled calmly and, without a feeling of crisis or drama, just dealt with. Usually that works.
One of the other things that we just have to feel our way through is how much help to offer. We don't want to make him overly dependent or to interfere when for his own self-esteem and confidence he should be left to, say, get himself upright or try something new that he may well fail at, but equally things are more difficult or tiring for him than for most other children. But with any kid one might push them to walk further than they've done before, but never as far as you could walk, and when your kid has reduced mobility it's a matter of calibrating differently.

What has happened in the intervening time? Well Kid3’s walking isn’t noticeably different: he falls over a little less, perhaps, because he knows better how to support himself on things, so there’s no way you’d expect him to go more than a few yards without a hand to hold. Stairs are usually climbed on hands and knees, although he has handrails on both sides (of very narrow stairs – I never thought that would actually be helpful!) and occasionally uses these to help him up or down. What he does have over other kids is impressive upper body strength, which comes from using his arms to do so much stuff his legs would otherwise do. He’ll climb to his brother’s top bunk essentially using just his arms and with help he’ll take on trees, monkey bars and climbing frames too, and he throws a mean punch. Hold his hand and you get a steel grip you’d not expect from a some sweaty little kid’s mitt. He likes to do acrobatics that use this strength and that other kids can’t do (still looking for a video for that). He'll do a simulated parachute drop too - that was cool!

He’s been at school a year now, settling in like any kid, and it’s safe to say his very outgoing character and huge energy have put him in good stead.
When he was 4½ Kid3 got a wheelchair, which he just loves, and he mastered it the moment he first sat in it.

The wheelchair was one of those things where as a parent you are perhaps a little reluctant to accept that it might be necessary. Indeed I was a little worried that it might see him exercising his legs less, which is important because it will help him to make the most of the muscle fibres that are receiving signals and keep his legs as strong as they can be. But of course it’s been a wholly good thing, giving him the freedom to go where he pleases and at speed and to feel like he’s on equal terms with other kids, plus it’s something he can do and other people can’t. We got a massive off-roader beast at the same time from Delichon (bloody expensive but so worth it). Check this out:

This baby has done extreme stuff and it’s beautifully engineered and good for kids up to mid-teens.

Having perhaps 20-25% of the usual amount of strength in his legs (just a guess) doesn’t mean he can’t do anything with them, of course. He has swimming lessons as well as hydrotherapy, and he loves a game of football, although this one definitely involves a lot of support from an adult (possibly swinging him in the air like a croquet mallet). We tried a balance bike, thinking that having no pedals it might work for him, but the act of balancing itself takes both control over the legs and a degree of core stability – another area weakened by SMA. So for his 6th birthday we got him an Ezy Roller, which is like a little go-kart powered by his arms wiggling a handlebar from side to side. Here's a clip of the boys hunting me down on Ezy-roller and scooter:

So he can now join in as his siblings skateboard, scoot and roller-blade – and we also tried a Micro Scooter, which has two wheels at the front so has enough stability for him to ride, a narrow rear to keep wheels out of he way of his trailing foot, a really low deck so he can reach the floor without having to bend his knee (an action that is sure to cause him to collapse), and steering that is not based on twisting the handlebars but tilting them - all of which seem to help. It was just brilliant to see him ride this. He had a lot of falls (but he’s made an art of that) but I didn’t really expect we’d see him scooting. Both of these came directly from Micro-Scooters’ base on Mersea Island, which is near to us, and I have to say a big thank you to them for letting us try stuff to our hearts’ content. Brilliant company. Below is a clip of him scooting. It's not exciting but it shows what's possible with this style of scooter. It also shows me doing what I talked about earlier and muddling my way through when to help and when not to, for better or worse.

My wobbly legs
One of our early worries was for how our son would handle it when he realised that he couldn’t do things that others could. We could see how his determination and vivacity helped him take on all sorts of things without complaint, but knew that at some point he was sure to think, “why is it just me that can’t do the things my friends can?” Will there come a point where he feels this and despairs, or turns to rebellion or anger? I guess we’ll see.
He is aware of his condition, of course, but treats it in a very matter-of-fact way. Sometimes it’s heart-breaking to see how matter-of-fact he can be, in fact. One thinks, “this shouldn’t have to seem normal to him”. He sometimes calmly sits out a game knowing that it’s not something he can do, though he may well recruit someone to help him do things his way. Only once do I remember him making a rather sad remark. I was carrying him down the stairs at a friend’s house where he saw his reflection in a big mirror, with his legs swinging freely as they tend to do, and he told me “I hate to see my wobbly legs when I’m walking”.
We’ve had several open discussions with the other children about what SMA is and means (normally on long car journeys), with him listening in. It’s hard to know if that’s the right thing to do, but that’s our approach: be open, don’t make a drama of it, don’t make him feel abnormal whilst being clear that he is naturally going to need help. I don’t think we have a strategy, we just have to feel our way and take our cues from him.

Help from outside
Beyond our friends and families, whose support has been so precious, we’ve had a lot of help from outside agencies and it’s well worth knowing where you can look. Actually the first to mention (again) is the Jennifer Trust, who provided us with a list of the various agencies we could turn to and some of the steps we could expect. The Muscular Dystrophy Campaign is a much larger charity than JTSMA with a wider focus but including SMA in its remit. With a bigger constituency it has quite busy forums where you might find a place to seek advice or share experiences.
Various services come through the NHS, from physiotherapy and occupational health, to wheelchair services, to consultations with paediatric neurologists. Our paediatrician helped in many ways other than the clinical, putting us in touch with people and advising on form filling (there’s a bit of that). As far as keeping in touch with research goes, aside from asking your paediatric neurologist you keep you informed there is a research network, Treat-NMD (it started as a European initiative but has gone global), that is worth looking into. It runs patient registries and a whole lot more besides. Like us you may not feel ready to face thinking about it immediately but do take a look.
A child that needs as much help moving around as one with SMA is entitled to (and needs) certain benefits, and you should get this underway. Check out the Motability scheme too (even if it uses ColdFusion for its website), which has enabled us to get a vehicle big enough for wheelchairs and buggies and also means that Fiona can get to all the many appointments.
The primary school and county council have worked together to provide support in class for Kid3 and I recommend pushing for this, especially if the school is an older building where the physical environment may be tricky for kids with “wobbly legs” or wheelchairs and where adaptations may be hard to implement. Getting around the classroom, participating in the playground and in PE all need our son to have help, and he gets that from a dedicated assistant. It may seem overkill but I assure you that it’s not, and because he’s a bright kid who doesn’t need extra help when sitting down at his work it means that the class also gets an extra adult to pitch in and help anyone, which is good for everyone. So whilst there’s less money to go round and it may be more difficult now to persuade your council to provide classroom assistance, don’t be afraid to try.
I mentioned swimming lessons, and again this is an experiment that has worked. Having taught our two older children the swimming teachers have been happy to take on the challenge of finding techniques that work for our youngest, giving him genuine swimming skill, confidence in the water, and noticeably improved muscle tone too. It’s exhausting for him, but that’s a good thing.
I’m sure there have been other sources of help and there are certainly many people I’m grateful to but I want this to focus on things that could be useful to others and I think this is a good start. I hope it’s helpful.

There is no conclusion. We carry on, we have a happy life with our kids, there are annoyances and things that we all miss out on or that Kid3 in particular misses out on, but really he's just like any other 6-year-old mentalist. He has no super-powers but he has a big smile, smart brain and lots and lots of attitude. We don’t know what’s ahead of us, but that’s just life. We count our blessings, and then they shout at us, kiss us, draw a picture, run over our feet with a wheelchair. They may even stand there three feet high in a Darth Maul costume, rabbit-punch us and then fall over backwards with the kick-back... And so the blessings pile up, only a little black and blue.

So if you've just found out that you are in our situation, with a child that is going to have difficulties you never foresaw, please don't despair. I hope you've seen that there are ways round a lot of things and always, always a lot of fun to be had. All my best to you.

Postscript. As I got to the end of writing this, I became aware of a blog started recently by the parents of Estrella, a little girl who lost her life to SMA but a month ago at the age of 8 months. Her story, their story, is very different from ours and humbles me. I read the words of people in the midst of grief who are yet trying their very best to do something positive; and now I feel more strongly than ever the sentiment in the title of that blog: Smash SMA. Amen to that.