Hypermobility and me

Some friends and family know that I have hypermobility problems, but it’s not something that I’ve been able to explain very well – I think my parents are the only ones who really know much about it. So I’m posting this so that I’ve got a record and I have something to point to the next time people ask things.

I was diagnosed with loose ligaments when I was six or seven. I’d been having joint injuries – sprains and dislocations – at frequent intervals for a long time, my first being a dislocated shoulder at the age of two. My parents were apparently concerned and got the doctors to investigate, finally going privately to see an orthopedic surgeon who diagnosed me with  loose ligaments (now it would be called hypermobile joints). He advised us not to let me play contact sports or sports that required a lot of twisting and said that the symptoms would improve as I got older and stiffened up. After a few years, we also did some physio to strengthen the muscles around my joints so that they would hold me together better.

You may ask why my mum was so determined to find out what was wrong and why the frequent injuries worried her. The reason is simple and somewhat connected to my problems. Her family has a hereditary condition called osteogenesis imperfecta, brittle bones, that affects two of her brothers. The bones are brittle and fracture very easily – the stories she can tell about their breaks would be unbelievable if I didn’t know them. Although genetic counselling reassured her that the risk of her having children with OI was low, having a daughter with frequent joint injuries can’t have been fun so she wanted some kind of explanation.

The doctor’s reassurances that I would grow out of it have sadly proven not to be quite correct. The incidences of injuries have gone down to a couple a year rather than a couple a month, but now there are other problems appearing. A few years ago I started to get pain on and off in my left hip. Eighteen months ago, this severity and frequency of the pain increased a lot so that I now need a walking stick at times and there is always a bit of twinge in that hip. At the start of 2006, I also started to get lower back pain that increased in severity until I was struggling to do much of anything by April.

I saw various consultants and physios and my rheumatologist has now concluded that the pain has its root in my hypermobile joints. I’m on daily strong anti-inflammatories and a TENS machine, which keeps the pain at a level that allows to me to function provided I’m careful about what I do. Some days I feel worse, need top-up painkillers and really look awful. Sometimes I have good days. I can’t predict what today will be, although I usually get a fairly good idea if I’m really stiff and sore when I get out of bed! Being in pain most days makes me quite tired, which is why I occasionally look like a really sore zombie. It’s all good fun.

My rheumatologist has now referred me to a clinic at UCLH in London run by Professor Graham, who is the country’s leading guy in hypermobility conditions so I should start to get some answers about what’s really going on and possible what to expect next. The appointment will be in August. Edited to add: You can read the results of the appointment at A bit of a blog catch-up and Death of a star.

The bit that most people ask is what hypermobility is. Essentially it’s when your joints have a larger range of movement than normal because the ligaments holding joints together are longer and stretchier than they should be. There are various reasons for it happening, for example dancers train their joints into a degree of hypermobility. In my case, it appears to be genetic. My mother has hypermobile joints as do several of her cousins and it appears to be getting passed down the generations. Hypermobile joints is also a symptom of OI so both my uncles have rather bendy joints in addition to all the broken bones.

The genetic versions of hypermobility are caused by defects in the formation of certain types of collagen. Co-incidentally, OI is also caused by defects in the formation of certain types of collagen. For me, it seems quite odd that we have two collagen-related diseases running in the family so I now wonder whether there is some kind of link.

Hypermobility and OI are both classed as hereditary connective tissue diseases (HCTD) and this covers a variety of disorders, many of which include hypermobile joints as symptoms. The condition that I probably have is Benign Joint Hypermobility Syndrome (BJHS), although the benign is a bit of a misnomer because it can cause real problems for patients.

Another such condition is Ehrlers-Danlos Syndrome (EDS). There are various types of EDS of which one, EDS type III, is called the hypermobile form (although all have hypermobility as a symptom) and Professor Graham has said in several papers that he believes BJHS and EDS type III three are probably the same condition. One of the questions his team should be able to answer in August is whether I have BJHS or Hypermobile ESD and what this will mean for me. It’s information that I think the whole family could benefit from. Edited to add: Prof G has diagnosed me with BJHS, equivalent to Hypermobile EDS (according to his report on me).

I was diagnosed with fibromyalgia a few years ago, which at the time seemed a reasonable explanation for the joint pain was I getting and the tiredness I often had. My rhuematologist thinks it’s unlikely that I have FM now and I am inclined to agree – the BJHS or EDS explain all the symptoms that my GP used to diagnose the fibromyalgia and it seems much more likely to blame an existing thing!

The hard part for people just looking at me from day to day is that it’s not a visible problem and some days I look pretty normal. Other days, I just look really sore, stiff and exhausted. The days when I’m needing to use a walking stick are easier for people to deal with, but even then it causes problems from people who haven’t seen me using one and don’t know why I need one. All of this makes it hard for colleagues, and even friends sometimes, to understand what’s going on. Believe me, I’d rather have you ask me what’s happening than stare and wonder! It’s frustrating for me, too, to always be saying “No, I can’t, my back” or “Oh, no, my hips won’t let me”, particularly when I’m having a pretty good patch. If I’m looking good and still don’t joint in with activities, it’s because I want my good patch to last for a little longer. There are things that I miss that I used to do, things that I’ve never been able to do and a few things that I’ll even risk a really bad patch just to be able to take part in.

That doesn’t mean I’ve refused your thing because I just didn’t want to do it, though. It’s a weighing act in my mind – how much am I going to enjoy that thing and for how long am I likely to suffer? And also, what else am I doing in the next few days that I’ll have to back out of if your thing thoroughly does me in? Are those things that I could potentially get out of or will my backing out of plans cause a lot of problems for other people?

There are dozens of links around the web to help people understand so-called invisible disabilities. Check out butyoudontlooksick.com to find a site with some great explanations. If you want to read more information specifically about people like me, try out the Hypermobility Association or the Ehlers-Danlos Syndrome Foundation.