Tag Archives: Growth Disorder

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 🙂

x

Dwarf? Little Person? Midget??! Ruby.

15 Jun

Dwarf. Little Person. Midget.

Just three of the commonly used terms used to describe someone living with a type of restricted growth condition, including pseudoachondroplasia. I, as an individual with such a condition, am not a fan of any of these terms, and I’ve been thinking about why – so thought I would share my thoughts, in case anyone reading this ever wants to make reference to a person living with such a condition. Before I begin, however, I ought to state that when mentioning such terms, I am not condoning their use – and mean no offence to anyone who disagrees with what I say – as I’ve stated, these are merely my opinions on the matter.

So, what got me thinking about this? Not that someone had called me by any of these terms, but because I have been engaged in many a conversation lately about how to refer to someone who is living with dementia. NOT as a sufferer, NOT as a victim, nor any other term, which may imply that these individuals cannot remain their own person, but as ‘a person living with dementia’ is the answer! At a Dementia Friends Champion training day that I attended just last week, this issue was discussed again – about how media refers to people living with dementia, and how this contributes to a negative outlook on these people and their lives, as though they have become their disease, rather than a person living with it. As the population ages and dementia becomes a topic which is increasingly discussed in the media, the terminology used has become more of a talking point – to ensure that individuals living with dementia do not become ‘sufferers’ in the eyes of others. However, this made me think – as people living with dementia are gaining awareness of a ‘correct’ way to acknowledge their condition, then why is it still acceptable to group people with a growth condition under a term with negative association?

Let’s begin with the most obvious, and most widely acknowledged offensive term that is sometimes (though thankfully not as often now!) used to refer to someone who has a growth condition – Midget. Not only is this often factually incorrect as a description, because a ‘midget’ used to refer to someone short in stature that is in proportion, whereas many growth conditions leave individuals with disproportionate bodies, but it is derogatory – particularly now it is known to be an offensive term.

Then, a more widely accepted term used by many (particularly in the US I realise) is ‘Little Person’. Whilst many people with growth conditions are happy to be referred to as this – I’m puzzled as to why, and would respectfully ask anyone who considers labelling me as this, not to. Why? Because ‘little person’ to me, is belittling, a term more appropriate for a literal description of a child, not an adult who just happens to be shorter in stature than average. I realise that societies tend to categorise people who are ‘slightly different to the “norm”’, but the use of ‘little person’ is not something for me, thanks!

Dwarf, defined as ‘A person with a usually genetic disorder resulting in atypically short stature and often disproportionate limbs.’ (http://www.thefreedictionary.com/dwarf). Definitely a widely acknowledged and used term, even in the medical field… so I suppose I ought to accept that – but only, I believe, in a medical environment – where my medical condition and height may be relevant.

The point I’m trying to make is – much like people living with dementia don’t lose their individuality and become their disease and should be named by their chosen name they have lived by their whole life – that people who happen to have a growth condition are far more than that condition. They are just people who are living with a growth condition as a part of their life. Much like you may be an individual living with anything – whether that is impaired vision, freckles, or blonde hair. I, am an independent, adult woman, capable of most things that any other person is – I do not need to be labelled, and my height has very little to do with anything. Nobody wants to be labelled when the label being used has negative connotations – and I am no different. I go by Ruby, and Ruby alone. Not ‘dwarf Ruby’, nor ‘Ruby the Little Person’ or ‘Ruby the Midget’… and I would challenge anyone who tried to refer to merely as an example of a type of growth condition! I do not allow my medical condition to affect the way that I live my life, so I certainly don’t want it to allow me to be labelled – and I believe this is probably the opinion of many living with a growth condition… the preferred reference is by name – even if some people are more accepting of the widely used terms! So please, if you’re unsure how to refer to someone of shorter stature, remember, the answer is, as with anyone else….BY THEIR NAME.

x

p.s. For reference, if I was going to be a ‘dwarf’…. I’d probably be Sleepy – particularly after the intense period of coursework I’ve been doing recently 😉

https://s-media-cache-ak0.pinimg.com/736x/39/97/c7/3997c72e9e7be826b049a2f2fe8f8347.jpg

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 🙂

x

October: Dwarfism Awareness Month.

2 Oct

It’s October… and it’s the month of raising awareness of dwarfism, in all it’s forms.

I’m not one for going on about this condition I have, so filling my social media streams with medical information simply isn’t’ my style. So, having seen a post on Facebook from a friend in the US who also has Pseudoachondroplasia who is raising awareness in an interesting way, I’ve cheekily decided to copy his idea and will be posting it on here at the end of the month.  Stephen’s idea is to post photographs throughout the month which show some of the challenges we face as the small members of society which the ‘average’ person may not usually consider or learn of… his started with a photo of his view at a sports event – someone’s back. Not exactly a brilliant view, but the guy blocking his view probably hadn’t even realised what he was doing by simply standing up without checking who was behind him.

I think that whilst I could summarise in text all the smaller issues in life caused by this condition, forming a collection of images to illustrate how my life is on a day to day basis would be a) more interesting and b) more likely to get others thinking about the effects of dwarfism on an individual’s life… so, best I start taking photos this month to post towards the end of the month (or I may post a few at a time throughout October perhaps…).

Thanks for letting me copy your idea Stephen… let the photography commence!

x

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

A Consideration for the Future…

3 Jul

I am not, by any means, the kind of girl who wants lots of children as soon as possible.  In fact, at the moment, I’m not so sure I will ever have children of my own.  Yes, I am only 21 years old, and am yet to settle into a steady relationship with a guy, but I have always felt that adoption would be a consideration for me when I get to the point in my life where maternal instincts kick in (assuming they will!).  There are so many children that are in need of a loving family and home, so I have always said I would like to consider providing this for a child… and it would also be a way of knowing the child I would bring up wouldn’t have inherited the mutation I have in my genes, and therefore have Pseudoachondroplasia too.  However, as I have recently been talking to many people who have Pseudoachondroplasia, some of which have children of their own who have the condition too, it has made me consider whether or not I would want to take the risk of having my own child, as there is a 50% chance of them inheriting the mutation in the COMP gene.  I will state now, before I offend anyone, that if I were to have a child with the condition, I would not love it any less.  I would not think differently of them.  I just began to wonder whether there was any way to avoid having a child with Psach and having to watch them suffer the effects of it.

I asked on a ‘Facebook group’ whether or not any parents on there had experienced any prenatal tests to determine whether their child had Pseudoachondroplasia, yet did not get quite the response I had hoped for.  It seemed I had offended some members as they thought I should be accepting of having a child with the condition, and I was told that no, they had not had any testing, they would wait until their child was old enough to be diagnosed (at around 2 or 3 years of age).  I felt bad.  I felt that perhaps I shouldn’t have asked, as I really hadn’t meant to cause offence.  Yet, I still wanted to know what was available in terms of avoiding my baby (hypothetically! I’m not pregnant!!) having the same disorder that I do.  I knew that scans would provide no answers as there are no physical signs until a child is around 2 years old, but I wondered if there was opportunity for genetic testing.  There must be something, surely?!

Having had the response from questioning the matter online that I did, I decided to carry out my own online research – just the standard Googling of such matters really!  However, I received a message from one woman on Facebook telling me about a method she had been told about, which might answer my question she had seen on the group.  Pre-implantation genetic diagnosis, or PGD.  PGD refers to procedures that are performed on embryos prior to implantation, sometimes even on oocytes prior to fertilization. PGD is considered another way to prenatal diagnosis. When used to screen for a specific genetic disease, its main advantage is that it avoids selective pregnancy termination as the method makes it highly likely that the baby will be free of the disease under consideration. PGD thus is an adjunct to assisted reproductive technology, and requires in vitro fertilization (IVF) to obtain oocytes or embryos for evaluation (http://en.wikipedia.org/wiki/Preimplantation_genetic_diagnosis).  Whilst I would never choose to terminate a pregnancy myself as I am very much against abortion, this procedure still very much grabbed my attention – and I was so thankful that the woman who messaged me had passed on her knowledge!  Pseudoachondroplasia has only recently been added to the list of genetic disorders that can be tested for using PGD, and for me, this is ever so exciting! I have already said I have no plans to have children in the near future, but this means that if I do ever choose to do so, I should be able to avoid passing on the mutation in the gene to my children. 🙂 

What is even better news, is that the risks that were thought to be potentially linked to PGD have been researched… and it would seem there are no risks to the baby using PGD.  It explains this in the article I read this morning (which also prompted me to write this post): http://www.bbc.co.uk/news/health-18676894

So, who knows… maybe with this knowledge, my feelings about having my own children in the future will change!

(Note for Mum/Dad when you see this – don’t worry, I’m not talking about having one yet! haha)

x

p.s. PLEASE don’t take any offence at what I’ve written in this post, I really don’t want to upset anyone, but am just sharing my own personal opinion on the topic!

A Quick Hello

14 Mar

Right, well this is my first ever attempt at a blog… I’ve never really known how to go about them, but here goes!

I’m not sure that how I’m going to be writing is in fact a blog, as it is more a diary of reflection – covering events in my life that are associated with my growth disorder, Pseudoachondroplasia. Either way, welcome to my ramblings!

I decided that I would write about my experiences of having Psach (I can’t keep writing the whole word, pseudoachondroplasia… it’s long!) as recently, I had the parents and grandparents of a little girl who has just been diagnosed with the disorder contact me on Facebook.  They had recently had the shock of being told their gorgeous little daughter has a growth disorder and that her life may not be the same as most other children… so naturally, they wanted to gain as much information about the condition as they could, and speak to as many others who have Psach as they could.  They wanted to know all that they could to support their daughter.  I have spoken with them all quite a bit since they first made contact and explained to them much of my experience, and I hope that this has helped them in any way possible.  However, discussing the matter with the family lead me to look for other’s experiences online… and I can’t find any! Not one person with Psach has written their experiences of the condition online (Well, not that I can find anyway!). So… I thought I’d give it a go.     🙂

I’m Ruby, I’m 22 years old, I live in England (UK) and I have Pseudoachondroplasia…

I’m not quite sure where to start from, so it’s just this little hello message for now.  I’ll write again soon!

x

p.s. If anyone wants to contact me regarding anything I post – please feel free to comment on here, or send me an email to: rubysallen@hotmail.com Or, tweet me @rubysoniaallen

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