Tag Archives: dwarfism awareness

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 🙂

x

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

%d bloggers like this: