Tag Archives: Pseudo

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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“So, are you a dwarf then?”

8 Jul

Just a quick post, to see if I can get any opinions/thoughts on something that happened to me a couple of days ago – which I’m not sure if I’m comfortable with or not, would you be? Let me know…

So, I had just been up and down the aisles of Tesco, collecting my shopping, then I waited patiently in the queue for the checkout… said hello to the cashier, he said hello back, ‘How are you?’, ‘Fine thanks, you?’, ‘Fine’, you know, the norm. Then, as I was about half way through packing, he asks, out of the blue, “So, are you a dwarf then?”. Stunned by his direct question, I responded, “Well, yes, technically apparently so”, silence. Then, a few moments later – “So, have you been stretched out then? You’re a bit tall.”.  Urm, what?!?

Whilst I’m pleased he had the courage to ask whether or not my obviously short stature is down to dwarfism, rather than just stare, I’m not sure my height/disability/surgical history is actually much of his business? Is it? Or am I being overly sensitive/defensive? I can’t decide – so, thoughts please!

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Little Things About Little Me… (Dwarfism Awareness Month)

31 Oct

I said at the beginning of October (Dwarfism Awareness Month) that I would post at the end of the month a collection of the photos and thoughts I’ve had in the past 31 days about how dwarfism may impact my life in ways that others may not generally realise… so here I am, with my list of 4 areas…. 🙂

1. The Obvious One.

StoolsPetrol  Out of reach (general) Library shelves Blind cord Bar Height

The height of the environments I enter.

Whether it be seating, reaching things on shelves in the library, not being able to adjust blinds because the cord is out of my reach, or being pretty much face level at the bar when I go out, there are so many many things that everyone of average height seem to take for granted. It probably can’t be helped in some situations, but there are some which could be altered to suit everyone- and to live with lots of minor challenges like this every day is really quite frustrating.

2. Clothes.

Clothes shopping – most girls’ dream. My nightmare. Firstly there is this situation:

Clothes in shop

Not many people can reach ALL of the clothes on a wall like this with ease, but at 4ft 9″, without asking for help (which, for those who know me, you’ll know I don’t like to do!) my choice of clothes is limited by what is in reach!

Then there are the clothes themselves…

Sleeves

Sleeves and trousers are forever too long. It’s my limbs that make me as short as I am, so getting clothes to fit them is a nightmare. I roll/scrunch sleeves up, I fold the ends of jeans up under boots, and I envy all of those who have the normal ‘I can’t find a pair of jeans to fit’ problem! haha!

The same with shoes…

Uggs

Shoe shopping is probably my least favourite type of shopping. With short and wide feet being part of Pseudoachondroplasia, finding any shoes to fit is a challenge which could reduce a girl to tears! I don’t have tears for that though, so I live in Ugg boots, boots that are actually too long for my feet, and flip flops… but it’s a factor of dwarfism which is a constant daily reminder, when I can’t choose a pair of shoes based on them ‘matching an outfit’!

3. The Pain.

It isn’t the case for every type of dwarfism, but for Pseudoachondroplasia, there is a lot of pain involved – on a daily basis. Most of my joints crunch, crack and click as I move, they ache when it’s cold, and they stop me from being a particularly physically active individual. There’s the additional consideration of not wanting to wear out arthritic joints to the point where they need replacing super-early too… I’ve already had my hips replaced, so I’m now very wary of wearing out my knee joints as I know they’ll need replacing in the not so distant future too. Because of all of this pain (which I try to hide from others), I have to alter my lifestyle. It involves a lot of driving, in an adapted car.

Car Pedals

I have pedal extensions so I can reach them with ease. My car is essential to me though… as even little walks to the shops could result in some length of pain for me, which is avoidable by driving. It does mean however, that to those who don’t understand the effects of Pseudoachondroplasia – I seem incredibly lazy!

And finally….

4. Social Situations.

Whilst I’m quite confident around people I know, I lose my confidence the moment I catch someone staring or hear someone commenting about my height/appearance in public. I’ve written about it before in other posts, and also touched on how emotionally it has an impact ( https://lifewithpseudoachondroplasia.wordpress.com/2013/11/04/true-emotions-self-acceptance/ ) but I thought I’d add a little reminder for those reading this who may not have considered it before – how much of an impact a little negative comment from you could make if you pass a comment on someone with dwarfism – it’s enough living with all the challenges of Dwarfism every day without having to deal with that too!

This little poem I wrote a while ago seemed to make a point before, so I will post it again, to reiterate my point..

“Just one woman, diagnosed soon after birth, with a growth disorder, what is she worth?
Being called midget, elf, disabled, short, a freak?
Or to be treated as equal to anyone you might meet?

Yes she is short, she may struggle to walk, doing certain things in life requires a little extra thought,
But more often than not that will not hold her back, until she experiences another verbal attack.

Life presents her with enough little battles without having to suffer ‘behind her back’ cackles,
Thoughtless comments and passing remarks, may seem nothing to you but they break her heart.

She knows that her stature makes her stand out,
She’ll never be able to see above all the crowds,
But having it held against her just should not be allowed.

So just take a minute to think it all through, before you comment; imagine it was you;
Who was born a little different and ‘not quite the same’…
Would you want to be labelled and be called names?

She is just one woman, with huge life ambition,
Just one woman, who gives life her best,
She just happens to have a medical condition,
And deserves to be treated just like all the rest.”

I hope for those not ‘in the know’ about it already, that this post has made you more aware of some of the aspects of dwarfism you may not have previously considered. As always, if you have any questions about anything I write, or want to ask any other questions, feel free to contact me – rubysallen@hotmail.com – I’m all for passing on my knowledge 🙂

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What Can A Woman With Pseudoachondroplasia Achieve?

23 Jun

I haven’t been posting recently, as I’ve been getting on with life using my shiny new hips (which I am still very much loving!)… but having just quickly skimmed over the stats for this blog for the last few weeks, something has caught my eye – much like the title of this post may have caught yours!  I can see for this blog what search terms have been used to find the blog, and usually they are ‘pseudoachondroplasia’, ‘pseudoachondroplasia pictures’, ‘pseudoachondroplasia children’ and many similar.  However, a couple that have been searched for more recently are closer to querying whether a life lived with pseudoachondroplasia results in ‘not having a life’ or achieving very little. There have also been quite a few searches for pseudoachondroplasia woman/adult with Pseudo pictures…   So, I have decided to post a few photographs from the more recent years of my life in answer to these search terms, for any future searchers wanting to know what a woman with pseudoachondroplasia can achieve or do after childhood… Firstly, a woman with pseudoachondroplasia who has a Taylor Spatial Frame on can continue to lead a decent social life (and attend a roller skating party!)… Roller Skating     or go quad biking with a plaster cast on her leg: quad biking Secondly, a woman with pseudoachondroplasia can go to University… Loughborough   …. and graduate with a First Class degree…. graduation In answer to the additional search term of photos of a woman with Pseudoachondroplasia, I thought I would also post some of me more recently, as all my previous photo uploads have been of me throughout my childhood.  I imagine that these searches are perhaps of parents wondering what their children with Pseudo may grow to look like, what build they may have etc. etc. so I am including some full body photos – which I rarely even upload to my personal social media profiles, but here we go, for the sake of informing others!….   Dominican Republic Lanzarote Tunisia Barcelona Lanzarote with the Girls   So there we go… An adult woman with Pseudoachondroplasia, what she looks like and some examples of what she can do! 🙂   As a reminder to anyone who would like to ask any questions about anything I post, or anything you think I may know about which I haven’t specifically written about, please feel free to email me at rubysallen@hotmail.com or contact me on Twitter: @rubysoniaallen  🙂   x

6 weeks, 1 crutch, 2 hips, 1 big smile!

4 Mar

This morning I went for my 6 week follow up appointment after my second hip replacement. I admitted to my surgeon that I had tried walking a little without crutches already, which he smiled at, as I’m pushing myself to achieve goals weeks ahead of time. Having had x-rays taken of the new joint in place, to see if the bone graft is healing, he has agreed that I can use just the one crutch for the next 6 weeks (ish) as a compromise between what I should be doing and what I want to do… Sensible I suppose as he says the bone graft just needs to strengthen a little more. 🙂

Here is the new joint, next to its partner which moved in back in September…

20140304-142057.jpg

And here is a close up of all the little bits and pieces making up the new joint:

20140304-142142.jpg

I have my next appointment booked for the 15th of April… And this one is to discuss what these new hips can take in terms of exercise. With any luck, once this bone graft is solidified, I may step foot in a gym for the first time! Exciting! It’s about time I got fit, as these joints have stopped me from being so for far too long. So maybe, just maybe, this will be the year for my new hips and I to get gymming! 🙂

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