arthrogryposis

A pair of black Callipers worn by me with Arthrogryposis

Arthrogryposis

Arthrogryposis multiplex congenital (AMC), or simply Arthrogryposis, describes congenital joint contracture in two or more areas of the body. It derives its name from Greek, literally meaning “curving of joints” (arthron, “joint”; grȳpōsis, late Latin form of late Greek grūpōsis, hooking”).  Arthrogryposis, what is it and how can it affect you?  Read more at the Arthrogryposis Group website.

Children born with one or more joint contractures have abnormal fibrosis of the muscle tissue causing muscle shortening and therefore are unable to perform active extension and flexion in the affected joint or joints.

AMC has been divided into three groups: Amyoplasia, distal Arthrogryposis, and syndromic. Amyoplasia is characterized by severe joint contractures and muscle weakness. Distal arthrogryposis mainly involves the hands and feet. Types of Arthrogryposis with a primary neurological or muscle disease belong to the syndromic group.

I suffer from both Amyoplasia and Distal Arthrogryposis.

Signs & Symptoms

Almost every joint in a patient with Arthrogryposis is often affected; in 84% all limbs are involved, in 11% only the legs, and in 4% only the arms are involved.  Every joint in the body has typical signs and symptoms like the shoulder (internal rotation), wrist (volar and ulnar), hand (fingers in fixed flexion and thumb in palm), hip (flexed, abducted and externally rotated, frequently dislocated), elbow (extension and pronation) and foot (clubfoot).  The range of motion capability can be different between joints because of the different deviations.  Some types of Arthrogryposis like amyoplasia have a symmetrical joint/limb involvement, with normal sensations.

The contractures in the joints are sometimes resulting in a reduced walking development in the first 5 years.  The intelligence is normal to above normal in children with amyoplasia.  But it is unknown how many of these children have an above normal intelligence and there is no literature available about the cause of this syndrome.

There are a few syndromes like the Freeman-Sheldon and Gordon syndrome, which have craniofacial involvement.  The amyoplasia form of Arthrogryposis is sometimes accompanied with a mid-line facial hemangioma.

Arthrogryposis is not a diagnosis but a clinical finding. So this disease is often accompanied with other syndromes or diseases. These other diagnoses can be found in every single organ in a patient. There are a few slightly more common diagnoses such as pulmonary hypoplasia, cryptorchidism, congenital heart defects, tracheoesophageal fistulas, inguinal hernias, cleft palate, and eye abnormalities.  Hmm not sure I understand most of those words either.

Ok, enough of the medical info, let me tell you how Arthrogryposis is for me!!!!  Everything you read is of my own opinion and what I have or am experiencing.

As I said I was born with my disability, you have to remember when I was born doctors had little to no knowledge of my disability. A lot of my operations, I believe, were tinged with a lot of finger crossing. I believe this because two of my operations didn’t go according to plan. The first one, on my left wrist failed to due to the fact that doctors didn’t realise with growth, my bones would grow back to their original shape. So they had to wait until I stopped growing to repeat the operation. The second operation, on my left foot (funny how it’s always my left side) was to turn my foot out so it was straight and not turning inwards. This didn’t go according to plan as today my left foot is still turned too far out. Obviously, this upset me as when I walked it looked like I was dragging my leg. For those of you that may be a little confused, please image below.

 

Club Feet/Bent Knees

Babies left foot turned in, known as club foot caused by Arthrogryposis

When you look at the picture on the left, you can see the club foot on the right.  This is how both my feet were when I was born.  The second operation I spoke of above was where the surgeons removed bone from my left foot, you can see the black wedge, indicating where.  Everything within the two black lines, is roughly what was removed from my foot.  The problem is, they removed too much bone, causing my foot to turn further out than it should have.  Obviously, their calculations were somewhat off.

Club feet do indeed make it hard to learn to walk, so it took me some time before I was walking around.  If my memory serves me right, I had most of the operations needed to straighten my feet before walking in my first pair of calipers.  Once I was used to walking with my Calipers, there was no stopping me.  The house I grew up in had 3 flights of stairs.  I used to climb them daily about 3-4 times. 

When I was older and getting ready for a night out, well I’d be up & down those stairs more times than a pair of tarts knickers lol

Also when I was born, my knees were 90° bent. Obviously again, I had to have these operated on before being able to walk. (Made me a great crawler) 🙂 I won’t lie, these operations are extremely painful.  Lengthening and shortening tendons is very painful.  But well worth it.

Any parent out there at the moment, who may be facing the same dilemma my parents had about whether or not to operate.  If you want my opinion, I say go ahead with the operation.  I don’t regret any of my operations.  Yes, it will probably be the most difficult decision you will probably ever have to make and be the most heartbreaking thing to watch your child in pain but when you see your child take their first steps, it will all be worth it.  If any of my children had my disability, seeing how far I have come along, I would definitely have the operations performed on them.

Wrists/Hands

My wrists, as you can see in the picture on the right were 90° bent downwards. Also in the picture you can see my left wrist is in a splint as this was the first attempt to straighten my wrist but as you know, didn’t succeed. The decision was made to wait until I stopped growing before they attempted to straighten my wrists again. I believe I would have been about Six/Seven years old in this picture. I know it’s not easy to see but you can see I’m sitting in my calipers.

I can’t raise my arms above chest level, as my shoulders don’t work properly. This definitely makes life difficult especially when I’m trying to reach something. I used to get picked on in secondary school, as I had to lean one side to be able to raise my hand for the teachers attention. The other kid’s would copy how I tried to raise my hand. Yeah at the time, I did get upset but soon forgot and moved on.

I don’t have normal strength in my body. My grip is very weak, again, making life difficult when trying to lift something that has any weight to it at all.

Me as a child sitting on a sofa with left hand in a splint to straighten wrist caused by Arthrogryposis

Opening bottles/jars etc. is impossible for me, I always have to ask someone to open them for me. Yes, there are many wonderful tools & adaptations on the market but not all disabilities are the same. Even other people who have my disability will have differences.

When having my wrists straightened, my doctors claimed that my grip would not improve, it was made perfectly clear the operation was purely for cosmetic purposes only. Of course this was great to me. I would have more normal looking hands, why would I be disappointed? It turned out though, my doctors were in fact wrong, my grip did actually improve somewhat. Holding cups especially was made much easier and of course who could argue against hands looking more normal than they did before. The only thing that didn’t improve, were my fingers. My left hand fingers were still unable to bend and my right hand fingers are still unable to straighten….Strange but how it is.

Arms/Legs

Me as a toddler with lower leg splints to straighten my club feet caused by Arthrogryposis

Obviously I don’t remember too much that went on when I was a baby but you can see in this picture both my legs are in splints, my hands are slightly covered by my clothing so not easy to see my wrists but both of my wrists are bent.

I believe it wasn’t until I was about three years old before I was walking confidently. I wore calipers on both my legs and these enabled me to walk. I had to have regular physiotherapy which of course I absolutely hated. But was essential to keeping my legs/feet in good shape.

The calipers I wore as a child, didn’t allow me to bend my knees, so my legs were straight all day long. This made sitting in chairs a little uncomfortable as I always had to make sure my feet were resting on the floor as my calipers were so heavy they would pull on my hips. I did eventually get calipers that allowed me to bend my knees. This was a godsend. Until some jumped up little s*** came along with his new invented type of calliper. He was a snotty young kid who had this “wonderful” new invention and by god he was gonna make sure every child who wore calipers were wearing them. Oh, and guess who was his guinea pig? You got it!!

Okay, picture the scene. I’m 11 years old, this man, let’s call him Mr X, came to me with a new style of caliper and asked me to trial them. He promised faithfully, that if I did not get on with them, I could go back to my original pair of calipers. (The top of this page shows what my original calipers look like). These new so-called wonderful calipers, were made of plastic, (look right). Can you imagine for one minute what that would have been like in the wonderful hot summers we used to have? Believe me, it was torture. So anyway, I went back to Mr X and told him that I wanted to go back to my original calipers, as I didn’t like these ones at all. He tried every trick in the book, including the fact how wonderful it was that I could now wear high street shoes and not be dependent on the horrible Biffa boots. To cut a long story short, I was in these calipers more than 6 years. 6 years of pure torture. In those years, I suffered from blisters, sweat sores, bruising and marks from the calipers. It didn’t matter how many times I went back to Mister X, he always gave the same reply: “my old calipers are not being made anymore”. I was gutted, here I was, stuck with calipers I absolutely hated and told there was no hope of ever going back to my original calipers.

 

Full length plastic calliper

Ah ha, there is light at the end of the tunnel, at around the age of 16 or 17 I had to have an operation on my leg. For the life of me, I can’t remember what this was for. Well, after 30 odd orations, would you? After the doctors explained the procedure, they asked if I had any questions. Oh hell yeah, I had one big massive burning question. “After my operation, do I have to go back into those horrible plastic things”? The doctors chuckled, and told me no I don’t. Well, I could have kissed each and every doctor around my bed at that moment. This now made my operation all the more worthwhile. I can’t believe Mr X had actually lied to me. To go back into my original calipers, was as good as going up to him and sticking my two fingers up at him.

As an adult, I changed hospitals so was now under a new surgical appliance department. Oh boy, guess who was surgical appliance caliper maker? Ha ha ha ha. Mister X. Well I’m sure you can imagine, I told him in no uncertain terms was I ever going to go into one of his plastic contraptions. The best part, was the look on his face when I told him where I had originally met him. It definitely was a Kodak moment. 🙂

Unfortunately, today I am a full-time wheelchair user as scoliosis was an unknown side-effect of my disability when I was a child. Approximately 13 years ago I was diagnosed with scoliosis. This was bad enough to prevent me from walking.

In General

As a child, you can’t see the end result or the long-term plan, all you know is your mum and dad have dropped you off at the hospital yet again and you know this means you’re in for a lot of pain. You can’t help but think, is my favourite nurse on today?  As a child, you can’t understand the reasons your parents are putting you through all this pain, you feel as though you must have done something wrong, you don’t understand it is for your own benefit. I can only imagine how difficult and heart wrenching this must be for parents.  I remember when my daughter was exactly one year old (yes, on her birthday) and she had to have an operation to remove a tumour. We had no choice in this operation, her tumour was almost entering her brain, (the tumour was behind her ear) so had to be removed. I remember spending the day crying and feeling as helpless as I have ever had felt in my life.

The picture on the right shows me as a baby sitting on the floor with boots on my feet with steel rod on soles.

Physiotherapists are the bane of your life because all they seem to do is cause you more pain but as you grow older, you end up realising all this pain, physiotherapy, operations and more pain, is actually working and beneficial to you. You learn to walk you see the change, you learn to climb steps you see the change, you can dress yourself another change you can feed and wash yourself, brush your own teeth, the list is endless of the changes you are seeing.

As a baby sitting on the floor with boots on my feet with steel rod on soles

It doesn’t make the pain any easier to deal with but at least you have a reason now as to why your mum and dad have decided these things for you.  Now as a parent myself, I can only too well appreciate the turmoil they must have gone through in their decision making.  I think it must be one of hardest thing any parent could go through.

Jumping ahead to adult life, I like to think of myself as a positive person, I don’t like situations or problems getting the better of me. I try and find a solution to most things, even if it takes me some time, I do get there in the end.  I am a 48-year-old woman, married, two children and a dream of starting my own business. I am now full-time wheelchair user and dealing with that took a while.  The anger and frustration that one goes through when faced with a major change in life, is mind bendingly difficult.   13 years down the road, I think I’m getting the hang of it. There is one thing though, that still today baffles me. I often use the term, “wheelchair-bound”. So many people hate this terminology, I don’t get it? The way I look at it, is this, if I don’t have my wheelchair, I can’t:

  • go to the toilet by myself
  • go to the shops
  • feed my children
  • get out of bed in the morning
  • get downstairs
  • basically live my life

So therefore, I believe, I am bound to my chair, hence the term “wheelchair bound”.  Dictionary says:  bound up in/with, inseparably connected with.  Devoted or attached to.  Well we are kinda inseparable from our chairs, are we not?

At the end of the day is it really such a big problem that I use a terminology you may or may not like?  I’m sure you know as well as I do, life is difficult enough without adding problems to our list of daily tribulations.  I don’t feel that the terminology “wheelchair bound” is as bad as other terminology words that people have used. So, let’s be friends and move on.  Oh, one more thing, if you haven’t already figured it out……I’m very opinionated, I mean no malice, I just say what’s on my mind!!

You can read more about Arthrogryposis at:  Arthrogryposis Group website.

Please feel free to Contact Me if you have any questions.