Arthrogryposis
My disability, Arthrogryposis, is fully known as Arthrogryposis Multiplex Congenita (AMC). It involves a variety of non-progressive conditions that are characterized by multiple joint contractures (stiffness) and involves muscle weakness found throughout the body at birth.
The most common type of arthrogryposis is called amyoplasia, which affects the hands, wrists, elbows, shoulders, hips, feet, and knees. In more severe types, every joint, including the jaw and spine, can be affected.
The name, derived from the Greek, means “curved or hooked joints”. Arthrogryposis is a rare disorder occurring in 1 out of every 3,000 live births, and true amyoplasia occurs in 1 out of every 10,000 live births. Source: Nationwide Childrens
AMC has been divided into three groups: Amyoplasia, distal Arthrogryposis, and syndromic. The first, 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. My Arthrogryposis is 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 reduced walking development in the first 5 years. 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.
Not a Diagnosis?
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!!!! From here on, 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 due to the fact that doctors didn’t realise with growth, my bones would grow back into 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 on 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.
Club Feet & Bent Knees
I was born with both fett club foot. On the right, you can see the splints I had to wear to keep my feet straight. The second operation I spoke of above was where the surgeons removed bone from my left foot. They removed a wedge shaped piece of bone to bring my foot round more straight. 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.
Knees
Also when I was born, my knees were 90° bent. Obviously again, I had to have these operated on before being able to walk. I won’t lie, these operations are extremely painful. Lengthening and shortening tendons is very painful. But well worth it.
To any parents currently facing the same difficult decision my parents once did—whether or not to proceed with an operation—I want to share my honest opinion: absolutely go ahead with it. I have never regretted any of my surgeries.
Yes, it will probably be the hardest decision you’ll ever have to make. Watching your child go through pain will undoubtedly be heartbreaking. But when you witness your child take their first steps, you’ll realise it was all worth it. And rest assured, the pain and hardship they endure now will fade from their memory as they grow.
Wrists & Hands
My wrists 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. Although 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 to one side to be able to raise my hand for the teacher’s attention.
My body strength is extremely weak, as is my grip. Again, making life difficult when trying to lift something that has any weight to it at all.
However, there are so many aids on the market today; these can help me be independent a lot.
My Grip
Opening bottles/jars etc. is impossible, 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, so it’s not a “one size fits all”.
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 for 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
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, and my hands are slightly covered by my clothing, so it is not easy to see my wrists, but both of my wrists are bent.
It wasn’t until I was about three years old that I was walking confidently while wearing calipers on both my legs. 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 enabled 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!! I may tell that story one day.
Life With Arthrogryposis
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. Yet, you find yourself asking, 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 and you don’t understand it is for your own benefit. And believe me, it is.
The heart-wrenching feelings parents must endure are unimaginable. (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 behind her ear. The tumour was almost eating into her brain. I remember spending the day crying and feeling as helpless as I have never felt before or after in my life).
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 are working and benefiting 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.
Yes, it takes many tries and some tasks are painful to do but you are doing them. It is an amazing feeling that I can still feel today when I have found an aid or tool that helps me achieve something independently!
Adult Life
As an adult, (or so I’m told). I like to think of myself as a positive person, I don’t like situations or problems getting the better of me. I try to find a solution to everything. Unfortunately, I’m not always successful but that is life!
Today, I am married with two adult kids, my own business and two dogs. Life has been a struggle, I won’t lie. I became a full-time wheelchair user 20 years ago (at the time of writing this). Dealing with that massive change in my life, was one of the hardest things I had to deal with. The anger and frustration that one goes through when faced with your independence being taken away is mind-bendingly difficult. Now 20 years down the road, I think I’ve mastered it.
I’ve also survived one heart attack and Breast Cancer.