October is Dwarfism Awareness Month

It's that time of year again.

I started this blog at the beginning of October last year to spread awareness about our son's achondroplasia. The blog isn't just about him, it covers a lot of aspects of our life, but I want to make use of the blog as a tool in teaching others more. I thought I'd have a more concrete plan for this year as I managed to share a few posts last year but I only have a couple of ideas, more will hopefully come to me. In the meantime I thought I'd give a little recap of some of the facts about his condition, achondroplasia: the most common form of dwarfism - there are over 200 different types!

• It is a genetic condition which affects bone growth, known as a disproportionate form of dwarfism it means the person has shorter limbs than average. The degree of the disproportion varies greatly from person to person, just as height in average height persons varies. Another common characteristic is a larger head circumference due to a prominent forehead.

• The preferred term for "normal" length people is "average height" - you'll often see me use the acronym AH.

• The term "midget" is derogatory. "Little person" is accepted by some as is "person of short stature". All prefer being referred to as having dwarfism if it needs to be discussed (NOT "being a dwarf" - they are still a person, with a name, like any other).

• Achondroplasia is inherited genetically, however 80% are born to two average height parents - in these cases it's due to a mutation of the FGFR3 gene.

• It can be diagnosed during pregnancy (as in our case), but only after about 25 weeks as until then the discrepancy in bone growth isn't apparent. Many, however, do not find out before and some do not get a diagnosis confirmed until many months after birth when the baby's growth slowing down is noticed.

• The intelligence of a person with achondroplasia is not affected by their condition, even physically they can do most things the rest of us can. Sometimes in their own way, mostly due to the fact that things in the world aren't built for their stature but they also tend to have joint hypermobility and the extra motion in their limbs can be both an asset and a curse (joint hypermobility unfortunately generally causes people pain, especially after a lot of exertion).

• Having achondroplasia unfortunately comes with the risk for a long line of medical issues (most live long healthy lives though, and being the most common form of dwarfism comes with the extra knowledge of how to prevent and/or catch health problems early if monitored properly). Things they are at greater risk of include sleep apnoea, curvature of the spine, spinal stenosis (compression of the spinal cord), hydrocephalus (water on the brain) and middle ear infections. Most of these can be life threatening and require early intervention.

• There is a 50% chance of inheriting the gene if one parent has achondroplasia and the other is average height. If both parents have achondroplasia there's a 25% chance the child is average height and a 50% chance they too have achondroplasia. There is a 25% chance that the child inherits both achondroplasia genes and sadly it results in a skeletal disorder which leads to an early death.

Most importantly: short or tall, proportionate limbs or not, fair or dark skinned, man or woman, they, we are all just people. We are all different to different degrees, remember to celebrate that! If you, or your child, are ever curious about anything that makes someone else different take a step towards learning something new about a person and ask them to tell you more about themselves so you can better understand them. You can only leave that scenario a richer person. What you should not do, or let anyone else do, is bring down another human purely due to their looks.

This is Elis, he is 19 months old, pure awesome and the reason we've been introduced to a whole new world. He has definitely made our lives richer!