Touching Lives - December 2004
Living with arthrogryposis
As for many of us, the hardest thing about work for IT consultant and advocacy worker Matt Rangel is getting out of bed in the morning. But for Matt, the challenge is even greater. Matt has Arthrogryposis Multiplex Congenita, which is a term used to describe a range of conditions involving multiple joint contractures, or limitation in the range of movement of a joint. It means that Matt’s body didn’t grow normally, and some of her joints are fixed in a certain position.
“Since arthrogryposis isn’t a progressive illness — the contractures themselves don’t get worse as such — the main effects on my day-to-day life are in the consequences of the condition,” explains Matt. For example, if someone breaks their arm as a child, they might be more likely to get arthritis later in life. But because Matt’s joints are already weaker and more vulnerable, she’s had arthritis since she was 18, and now has it in most parts of her body.
“^The effects on your body change almost daily^,” says Matt. So if she’s feeling particularly stiff, getting up and out of bed on time for work can be a real struggle. That’s one of the reasons Matt enjoys the freedom of working freelance. She can do a lot of her work from home, either online or on the phone, so getting up at the crack of dawn is no longer crucial. “What’s frustrating is that I was never told that arthritis might be a side-effect of my disability. If I’d known, even if there was nothing I could do about it, I might have been more prepared. It’s always better to know what to expect.”
Despite the apparent severity of her condition, the non-progressive nature of arthrogryposis means that Matt’s contact with the medical world in relation to her condition has been limited. She had several operations up to the age of two and a half, which enabled her to walk, and Matt used to go to Great Ormond Street Hospital for checkups until she left school. Since then, it’s been a question of managing the challenges that come with being disabled.
In particular, Matt has found an international arthrogryposis support group invaluable for finding out more about her condition. “Until my mid-twenties I had never met anyone else with arthrogryposis. Then I became involved with The Arthrogryposis Group, a support group for people with the condition. I’ve made lots of friends through an Internet chat room. But it’s lucky that I’m a late night person, as the chat room is run by an American organisation and as such it doesn’t start until 1am! Able-bodied people can empathise, but it’s only others with your condition who truly understand what you’re going through.” And if the chat room had been around when Matt was younger, she might have found out about her likelihood of getting arthritis before its onset.
Sharing information is also at the core of Matt’s work as an advocate with a charity aimed at enabling disabled people to get as much help with mobility as possible. “I find it very frustrating that some people can see being disabled as the end of their life. The fact that I can empathise personally helps — we’ve got that common experience. I can explain that I’m disabled myself and that ^there is help out there, and there is the potential to get mobile again. You’ve got to make the most of life^.”
But Matt’s own mobility is more restricted now than it was. Arthrogryposis and the accompanying arthritis make getting around London a real challenge. “When I was younger, I could use public transport without getting too tired. Now, even getting the bus is difficult. If I was to go to the shops by bus, I’d have to walk to the bus stop, then stand around waiting in all weathers, and when you get on the bus there’s no guarantee you’ll get a seat. Then there’s actually walking around the shops, and doing it all again on the way back and I may have shopping to carry. I’m also asthmatic, which makes things worse — I just find the whole experience too tiring.”
Another thing which Matt finds people often don’t appreciate is how much more expensive being disabled can be. Buying clothes, for example, is difficult for someone of Matt’s short stature. “It’s a bit better now that shops are doing more shorter sizes, but buying trousers is a nightmare — people think if you’re the height of an 11-year old that you’ll also have their waistline! If only! I’m seriously considering having someone make my clothes for me, which of course will cost much more.” Heating also costs more, because it’s important for Matt to keep her home warm to alleviate the symptoms of her condition. And it all adds up.
Matt now lives on her own, having moved out of her parents’ town house several years ago. “The thing about a town house is, it has lots of stairs!” says Matt. “When I was younger, it wasn’t so much of a problem, but stairs have got more difficult as time goes on — particularly carrying things up stairs. So it’s a real benefit having a ground floor flat — although I’ve noticed that since I’ve moved, I find stairs even harder. It’s lack of practice.
“Silly little things like changing a light bulb or testing the smoke alarm cause difficulties — I can’t reach, even if I’m standing on a stool. A bulb went the other day, but luckily I had some friends round for dinner and one of them was able-bodied, so I asked her to change it for me. Friends and family are always very helpful — it makes a lot of difference.”
Despite positive experiences like this, Matt experiences discrimination all the time. “I went for a job a few years ago at an organisation that a friend of mine found work with. I didn’t get the job, and found out later that they’d asked my friend how I would cope, instead of asking me!”
Looking to the future
It’s not clear what caused Matt’s condition — arthrogryposis can be caused by any condition that reduces a baby’s movements in the womb, and medical science is still seeking definitive answers. An Action Medical Research grant, completed by a team headed by Professor Angela Vincent at the University of Oxford in 2002, followed up on the discovery of unusual antibodies in the mothers of babies with a particular form of arthrogryposis.
“Our team had shown that some women who gave birth to children with arthrogryposis had a special antibody in their blood,” explains Professor Vincent. Working in conjunction with the John Radcliffe Hospital in Oxford, the team came across a patient who had given birth to four babies with arthrogryposis, only one of whom had survived. Further investigation showed that ^antibodies in the maternal blood crossed the placenta and attacked the baby’s muscle receptors^, causing paralysis that led to arthrogryposis.
“We wanted to see how frequently we would find those particular antibodies in affected babies and their mothers, so we looked at 200 blood samples sent by doctors from the UK and abroad. Our hypothesis was that these maternal antibodies might be a common cause of arthrogryposis. If we could find the antibodies in the mothers’ blood serum, then there was the prospect of treatment. We could suppress the mother’s immune system that was generating the antibodies, or carry out a procedure called plasma exchange to remove them. Professor Newsom-Davis and colleagues in Oxford had successfully treated two pregnant mothers in this way, who otherwise had a high likelihood of giving birth to arthrogryposis-affected babies.
“Expectant mothers have their first ultrasound scan during the twelfth week of pregnancy. But we know that antibodies don’t really cross the placenta to the baby until the sixteenth week. So if by the sixteenth week a previously healthy baby has stopped moving, and shows signs of contractures, it would be possible to then start treating the mother.”
However, despite such treatments being available, the study found that only 1-2 per cent of the blood samples had the problematic antibodies.
So with 98 per cent of cases being caused by other determinants such as genetic factors, how should you identify and treat this large majority of cases? ^At least one in 3,000 pregnancies in the UK continue to be affected by arthrogryposis^, leading to disability and in some cases, death. “We’ve chipped away at the mystery of arthrogryposis but there’s still the need for much more medical research in this area,” says Professor Vincent.
Matt agrees that research is essential — it’s only through research that we learn why things go wrong, and thus how to prevent disability occurring. Until such time as arthrogryposis becomes a thing of the past, education about arthrogryposis is another passion of Matt’s. “Negative attitudes from other people can be very damaging. People can often make assumptions about what you can and can’t do because you’re disabled.” And as someone self-taught in IT, with a BA in combined studies and a Masters in Law, that is extremely frustrating. One assumption it is safe to make about Matt is that she’ll continue her personal and professional commitment to changing attitudes in society, both to the needs and the abilities of disabled people.