Tag Archives: Pseudoachondroplasia

What’s Next for the Knees? Nothing (for now).

17 Mar

Following on from my previous post, where I’d written about having had an appointment with my GP about my painful knee – here’s my update…

I had an x-ray done at the local hospital, and the radiographer’s report was that the only abnormality in my knee was that I have osteoporosis (bone thinning).

Feeling unsure of this, as that diagnosis wouldn’t explain the pain I’ve been experiencing, I have also been for a consultation with the surgeon who replaced my hips (as I trust him completely). He too has said that my knee isn’t arthritic to the point of needing replacement yet (hooray!), and that the osteoporosis the radiographer had said was there is actually just localised due to previous surgeries I’ve had. Other operations affected how my bones grew and thus have left them less dense than would be expected in someone of my age. So, that’s all good news. However! Neither of those observations explain the pain in my knee. The consultant has said that he thinks the problem behind the pain is that my patellas (knee caps) are lower than they should be…

Right knee

This, combined with my legs not being straight means that they’re being pulled to one side and this is causing the pain. There isn’t anything that can safely (and with confidence) be done about this, so in essence, I must deal with it and live with the pain. Not ideal. There are positives, as it means I don’t need to take time away from my PhD studies for surgery, and that joint replacement isn’t required as I had feared it may be – but the thought of the daily pain isn’t great.

So, no major news… but this is the update about what is next for the knee, and the answer is, for now, nothing. It’ll just continue to painfully grind inside and pop and click.

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What’s next for the knees?

18 Feb

Since my hips were replaced, I haven’t written much for this blog beyond awareness posts. Primarily because those wonderful new joints have allowed me to live with reduced pain, so I’ve been getting on with life. However…

Over the last year or so, my knee joints – especially the right one – have been getting increasingly more painful. I’ve tried ignoring it. I’ve tried being kinder to it (less moving about). I’ve tried painkillers (paracetamol, ibuprofen…). None of this has worked, and I can’t even use crutches for a while either now my shoulders have decided to join the painful joint club! So, last week, I decided to go and see a GP about this nuisance joint. I’ve owned up that I’m not coping particularly well with the pain (unlike me to be honest about that..) and that I think it needs some attention from a medical pro!

My condition hasn’t been followed up at all since the last NHS surgery was done 6 years ago – and even then, the check ups were just in relation to the frame that had been fitted to my leg. Whether my body needs medical attention has – until now – been left to me to determine. This hasn’t impressed my new GP, who feels that the joints should have been monitored to prevent the pain getting as bad as it has (to the point where I’ve opted to work from home when I can, so I can wrap the knee up in heated blankets or with heat pads to relieve the pain). So, the new GP has given me a prescription for a stronger painkiller for the short-term, but has also sent me to have an x-ray of the knee joint. I have an appointment next week to discuss the x-ray and the next move (which I’m afraid may well be joint replacement – which will be quite something to juggle with my current life plans). The GP has said before this appointment, he will read through my medical notes so he can give the best advice and referrals… this is partially great news, as it means maybe something can be done to reduce the pain, but also something I’m dreading – as once again, this condition has the potential to throw a spanner in the works of my life!

There isn’t a conclusive point to this post… I just thought I’d write it now, so those who read this blog to see what they/their children may face when living with pseudoachondroplasia can follow through what happened and when – as I think this is the beginning of the next joint problem journey!

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THIS is how I feel about Dwarf Actors too.

27 Jan

This is just a quick post, as I happen to have found an article that totally resonates with me. It’s not a recent one, but I have only just found it (via the blog of Lisa Hammond, a British actress who has Pseudoachondroplasia too https://twitter.com/lisahammondwhop) and I could not agree with what has been written by Tom Shakespeare (and said by Lisa) anymore.

It’s an article about dwarf actors, and Tom’s views on this career choice, as a medical sociologist.

I’m not in the acting/film/theatre industry at all, but the following extracts from this article do 100% sum up my view about negative stereotypes being reinforced by the media/theatre/film/etc. and so I thought I’d just paste them onto this blog rather than trying to reword what has already been written perfectly:

 

‘other restricted-growth people’s choices impact on me directly’

‘When people laugh at other characters, like the Principal Boys or the Ugly Sisters, this has no impact outside the theatre. But jokes about the Dwarfs affect the way that the public thinks of people like me.’

‘Despite the differences, I think all restricted-growth people want the same thing: to live in a world where no one is victimised because of their stature.’

‘We just want to have the same range of career choices as everyone else, and to be accepted and respected as equal human beings.’

 

There isn’t much more I can add to this, other than if you have ever wondered why people with dwarfism (including myself) aren’t always impressed by the roles given/accepted by other people with dwarfism, please, just read this, and I promise you, you’ll begin to see why… (thank you Tom for writing this article!) :

 

http://www.telegraph.co.uk/culture/tvandradio/11394321/Its-time-dwarfs-stopped-demeaning-themselves-in-public.html

 

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Dwarfism Awareness: 2016

13 Oct

It’s October, which means that it is Dwarfism Awareness Month again. It’s the month where I like to try and summarise quite quickly some information about Pseudoachondroplasia – the form of dwarfism that I have.

Last year, I summarised physically how the genetic condition has formed me physically – from misshapen joints, to short stature, and an extra-curvy spine: https://lifewithpseudoachondroplasia.wordpress.com/2015/10/09/pseudoachondroplasia-the-low-down-dwarfism-awareness/

The year before that, I demonstrated in photos a few situations where having this condition can make navigating various aspects of life and environments a little extra challenging, and touched on how the disability can make an impact on a person emotionally: https://lifewithpseudoachondroplasia.wordpress.com/2014/10/31/little-things-about-little-me-dwarfism-awareness-month/

This year, I thought I’d try to summarise how living with a form of dwarfism is a life-long thing, which simply isn’t ‘just being a bit short’, as many people seem to think!

Whilst what I’m showing is simply my own experience of how dealing with the condition has interfered with my life, it does begin to show how people with pseudoachondroplasia have to build in time for medical interventions in their lives… and it’s worth noting that there are a whole load of other surgeries that pseudoachondroplasia can cause need for, including some pretty nasty spinal surgeries.

Pseudolifechart.jpg

From the age of 3, when I was diagnosed, I have had many, many hospital/doctor/surgical appointments, with daily injections beginning at 5 years old, and my first major surgery when I was 7. Most recently, I have had two total hip replacements, and there have been various operations between. Next on the list will be a knee replacement, as my right knee is becoming more painful as time goes on (the cartilage is wearing down to nothing).

… And in the future? More hip replacements. Knee replacements. Probably shoulder surgery, with possible replacement. Constant worsening pain as osteoarthritis spoils my joints.

My attitude is just to get on with it; Pseudoachondroplasia is a part of my life and it’s something that I need to juggle with everything else, but I want this post to highlight – for anyone hoping to learn more about dwarfism during this awareness month – that living with a form of dwarfism is not always just ‘being a bit shorter than average’. Dwarfism is needing to adjust life to living with a body far from the average, it is enduring constant pain, it is spending time in hospital, being operated on, and for some, it can also be dealing with prejudice and bullying.

For those who would like to know more about the details of the surgeries I’ve mentioned, how pseudoachondroplasia has played a part in my life, or more about the condition itself… there are plenty of other blog posts for that 🙂 If there are still questions unanswered, I’m always happy to have readers make contact ( rubysallen@hotmail.com or facebook.com/rubysoniaallen ). I’ll try my best to answer anything that may help spread awareness and understanding 🙂

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Unfit and Too Fat… But I have a plan!

2 Apr

There’s no denying it, I’m unfit. Really unfit. I am also too fat. I weigh too much, and I need to do something about it.

fat

However, with my condition, losing weight and improving my fitness is a bigger challenge than it might be for the majority of adults my age who are disability-free. It’s acknowledged within the community of people with pseudoachondroplasia that we do struggle with both fitness and weight, often due to the joint pain that we get on a daily basis. Unlike some athletes with achondroplasia, we cannot just take up sports that we’d like to. Arthritic type pain, together with limited joint mobility, does restrict what we can do. For me, I’ve also been told that with replacement hip joints in place, running is out of the question, as are any sports that would increase the impact taken through my hips. So… options for burning calories are limited!

 

But! As always, I will not use my genetic disorder as an excuse, and I’m trying to think of ways that I can feel fitter and lose some fat.

 

I’ve done a little research, and the weight being recommended as ‘healthy’ by professionals posting online in support groups for me would be 6 stone 2 pounds, or 39kg. SIX STONE TWO POUNDS! Now, I know I’m far from a medical or health expert, but that to me sounds highly unrealistic. I currently weigh much more than that (no, please don’t ask me how much, I won’t be telling…) and I think if I were to weight 6 stone 2lbs, I would look unhealthy. I have the muscle mass of someone with proportionate limbs, but within much shorter ones, so BMI calculations are highly inaccurate for me, and I’m a matured adult who stands at the height of the average 11-year-old (145cm), so height/weight charts simply aren’t going to work (which I forever have to explain to doctor after doctor, unbelievably!). So I’m taking a different approach, and it won’t be done by weight loss alone. I’m going to try and improve my lifestyle until I feel I’m living a healthy one – one step at a time… Here’s my plan:

 

Firstly, I have started taking one-to-one Pilates tuition, in a bid to get some mobility and strength back into my painful and stiff shoulders. This, in turn, will allow me to get back to swimming (hopefully)… the go-to sport for most people with pseudoachondroplasia that I’ve had to give up since my shoulders became more painful over the last year.

 

Secondly, I’ve done some calculations regarding my calorie intake (based on my activity levels and body weight, but also factoring in that compared to an average height adult, I will burn slightly more calories for any equal movement). So now, I have cut down what I’m eating on a daily basis, ensuring to keep all the crucial food groups in place still (including chocolate, as I simply NEED it 😉 ). That does seem to be working already, having lost half a stone so far.

 

And lastly, I’m trying to move more frequently. If only to ensure that my joints are provided the synovial fluid that they need to keep pain at a minimum. Every little counts, right (?), and having lived a sedentary lifestyle for most of the years of my life, I think the slight increase in how much I move should do me some good – even if some joints won’t be enjoying the experience, as they’re almost cartilage-free! :/

 

With any luck, these little changes to my lifestyle will see me feeling fitter and a little less fat in a few months’ time. 🙂 Not for anyone else’s approval, but to help my body – and my mind. It’s bad enough disliking my body for its wonky legs and disproportionate limbs, without seeing an overweight woman in the mirror! So, it’s time for change. And, as I did when I wanted to change my outlook on life, I’ve written this post publicly so that I must commit to this!

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p.s. Please, no-one tell me to deny myself that chocolate! 😉

Pseudoachondroplasia – the low down. (Dwarfism Awareness!)

9 Oct

It’s October. That means, it’s also Dwarfism Awareness Month. Last year, I posted a collection of photos that demonstrated some of the issues I face on a day-to-day basis as a result of Pseudoachondroplasia, in an attempt to raise awareness of dwarfism (https://lifewithpseudoachondroplasia.wordpress.com/tag/dwarfism-awareness-month/). This year, I’ve decided to be a little more specific – to give an account of all of the physical ways that the condition affects my body… basically to explain how having pseudoachondroplasia doesn’t actually mean I’m ‘just a little bit short’!

Before I begin, I ought to point out that what I’m going to explain is a) only the experience of Pseudoachondroplasia specifically, not an indication of what someone with any other of the 200+ types of dwarfism may experience, and that b) is my own personal experience of Pseudoachondroplasia – some of its traits vary from person to person, and like all my posts, this is just my understanding of the condition – not the understanding of a medical expert!

Pseudoachondroplasia (PSACH) is described by the National Organisation for Rare Disorders as ‘a short-limbed dwarfing condition characterized by disproportionate short stature, joint laxity, attractive face and early onset osteoarthritis’. Whilst the most obvious trait noticed by others is my height (as a result of having arms and legs that are abnormally short in comparison to my body), living with the condition, there is a lot more to it. The most apparent thing being the differences in my joints. I’ve highlighted on a photo of me (a rare, full body length one!), the joints which I find to be affected by the genetic condition and will explain in turn how they are affected.

Pseudo Traits Diagram

So, here goes…

Shoulders:   I have reduced joint rotation of my shoulders, meaning that reaching much above shoulder height has become impossible, and I experience a considerable amount of pain in these joints.

Elbows: I don’t have complete extension in these joints, they also cause a fair amount of pain and often click too!

Wrist and Fingers: The joints in my hands are particularly lax, meaning I have hyper-mobility in these joints and can bend my fingers much further back towards my hand than your average person. Again, these joints cause some pain (particularly if I’m using them for long periods of time, such as writing long documents). In addition, a trait of Pseudoachondroplasia is having ‘short and stubby’ fingers, on small hands. Yep, I have those too!

Hips: My hips are one of the two most troublesome joints in my body – thanks to the effect that pseudoachondroplasia has had on them (well, they were before I had them replaced!). Hip dysplasia is a common trait of the condition, and my poor excuse for a ball-and-socket hip joints had worn down to the point where they needed replacing at the age of 22. It was the best decision I have ever made and I love my new joints, but the originals really did cause some excruciating pain on a daily basis and stopped me from walking about for quite some time.

Knees: Pseudoachondroplasia can cause knock-knees and bowed-knees in the people that it affects. For me, it’s knock-knees (or, genu valgum). This means that even when my feet are apart, my knees still touch. I’ve had numerous surgeries to try and correct this (which are documented in other blog posts), yet none of these have truly worked, because Pseudo-Knees are loose and are able to move sideways a little as well as how they should bend! They’re also quite painful, and are next on my ‘become a bionic woman’ joint replacement list. Replacements of knees and hips are common amongst people with this condition.

Feet: Like my hands, my feet are short and wide. They’re not far off square, being only a UK size 1 in length and very, very wide! It makes buying shoes a complete nightmare, but at least they don’t hurt! 🙂

Spine: I’ve poorly drawn the difference between an average spine and one affected by my condition. I have exaggerated lumbar lordosis (curvature of the lower portion of the spine), which unfortunately makes my stomach and bottom stick out more than they should. Obviously having an overly curved spine causes back pain, which can make standing for too long uncomfortable.

Also!: In addition to the joints often being a different form, and causing pain, it’s worth noting (I think!), that with this condition, a person has the ‘standard’ amount of muscle, just crammed into a smaller space (as a result of shorter arm and leg bones)… making limbs look quite bulky. That’s quite a frustrating aspect of the condition, as it can make limbs appear quite fat!

So, yes, the condition physically affects much more about a person than just their height. The average male height is reported to be 3ft 11inches, with females measuring around 3ft 9inches. I actually stand at 4ft 9 inches, so a foot taller than average, but I still stand quite small in the average world. I’ve grown to accept that – but I have many years to come of dealing with the other traits of pseudoachondroplasia, and that is, the effects that the mutation in the COMP gene that causes my condition, has on my joints.

There we go – my little contribution to Dwarfism Awareness Month… a brief explanation of what else there can be to dwarfism, aside from being a bit on the small side! Of course, if anyone reading this wants to know more, browse the rest of my blog, or, contact me directly to ask any questions you might have: rubysallen@hotmail.com or https://www.facebook.com/rubysoniaallen 🙂

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What Not To Do? Assume.

15 Aug

Recently, I watched the series of clips shown on Channel 4, produced in partnership with Scope (a disability charity), called ‘What Not to Do’. These are short clips, as part of a campaign by Scope, aimed at tackling attitudes to disability, by highlighting the awkwardness that many people feel around disabled people. Within these clips, was one involving a lady with a restricted growth condition (http://www.channel4.com/programmes/what-not-to-do/on-demand/62097-001) – and some of the interactions between this lady, and an actor playing the role of company staff member below her, reminded me of some of the situations I’ve found myself in before. So! I thought I’d share some of them – as things that can go on the list of, as Channel 4 said, What Not to Do!

Where to start? Crouching down to speak to me. Yes, I am short and it’s unlikely that whilst standing you’ll feel eye contact is as natural as it may be with someone closer to your own height – I definitely have to look up most of the time when chatting to someone, and you’ll probably feel like you’re looking down on me… but! Please, PLEASE never crouch down to try and resolve this! It happened once, with a teacher of mine, and I was furious. I’m not a child; you do not need to ‘get down to my level’, I am used to needing to look up in conversation – so just carry on as you would with anyone else! I was bemused that someone who had known me for years thought this was an acceptable thing to do, and upon reflection, I’ve decided that if anyone in the future does this – I won’t just accept it, I will have to explain how that simply isn’t necessary – and is crossing the line of acceptable behaviour.

What else? Having lower expectations of me because I’m shorter and have a disability. I’ve written another post, detailing what someone with Pseudoachondroplasia can achieve, in response to a search term I’d noticed had brought up my blog before, which questioned whether someone with this condition could lead a fulfilling life. (https://lifewithpseudoachondroplasia.wordpress.com/2014/06/23/what-can-a-woman-with-pseudoachondroplasia-achieve/). I shall reiterate this point. Just because physically I may be a little limited in what I can do, this does not mean I can’t aim highly in all areas of life. I try not to let this disability hold me back, I have many career goals for my future and am slowly but surely ticking things off my list, I hope to settle into a successful relationship and have a family of my own – as most others would hope to, and there are many, many other things I hope to achieve. However, like in the video clip I referred to at the beginning of this post, I don’t understand why people would expect less of me, think my life aims won’t be so high, simply because I live with a disability? So please, don’t ever tell me I’m ‘inspirational’ or anything similar, simply because I’m leading a life more ‘normal’ than you may have expected. I find it almost insulting that you might expect less of me, I am a human being, not a disability. I am not defined by my condition. (I have reason to believe this is how lots of people with disabilities feel, but I won’t speak on behalf of others!)

Thankfully, not every situation acted out in that clip has happened to me – I can’t imagine how I’d react if someone spoke to me like I was a child! However, I have experienced a couple of the others – being picked up on a night out, ‘because I’m so small’. Without asking (when the answer would have been a firm, ‘no’), just to pick me up is NOT acceptable. I am not a doll. I am not a novelty toy you can play with.

Finally, one more assumption that I wish people wouldn’t make, is about my ability to drive. Yes, I am capable of driving. And like in the video, no, I don’t drive a SMART car just because I’m small. I just drive a car of my choosing, with pedal extensions to allow for my shorter legs. Along with this goes another assumption that seems to be made incredibly frequently – my blue badge I have which allows me to park in the ‘disabled parking’ places. Yes, I am young, and yes, when I pull up it may look like a young woman who is about to abuse the provision of such parking places, but actually, I do have a badge. I have a badge because parking further away from the venue I’m trying to access results in me having to walk further, and therefore being in pain sooner. I’m well aware that my disability may not be as instantly understood as requiring a disabled parking badge, as say, someone in a wheelchair for one reason or another, but I wish people would stop making these assumptions that I either don’t have one, or don’t need one! So please – if you ever begin to judge someone before they’ve had a chance to display the badge in the window, wait before you give those disapproving/disbelieving looks!

Apologies for this post turning into a bit of a rant, that wasn’t intended – I thought the Scope/Channel 4 clips do a good job of highlighting some of the ridiculous things people with various disabilities have to deal with. I’d recommend you put aside some time to watch the whole series. I suppose I just wanted to highlight some of the assumptions that are often made about me, because I have Pseudoachondroplasia, and how these assumptions simply shouldn’t be made. I fully accept that the condition does change my life in some ways, but it does not define me and everything I do, so please, please don’t think it does! I would far rather answer a direct question, if you want to learn about how my disability might affect me, than for you to assume! Please, never assume these things!

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