Achondroplasia diagnosis

Below is the FB post that started me on this blogging journey, I hope it continues to raise awareness outwith this month.

February the 4th 2018, 8 months ago, we went to Ninewells for our 3rd trimester scan. I could tell something wasn't as it should be, with a serious face the woman doing our scan said she wanted a second opinion and so we were asked to wait for an obstetrician to come speak to us. Our baby appeared to have restricted growth in his limbs while his head was measuring noticeable larger than average for gestational age, that along with excess amniotic fluid led them to believe he had a condition called Achondroplasia; had we heard of it? No, we hadn't. They mentioned the better known term: dwarfism (Elis has the most common form but there are over 200 conditions).

I won't lie my head was mostly spinning at this point, trying to hold on to the words "but the baby looks healthy & happy in there". My knowledge of dwarfism was limited to knowing they suffer from joint pains & a long list of other health problems. I can now fill that list with words like hydrocephalus (water on the brain), kyphosis/lordosis (curvature of the spine), stenosis (narrowing & subsequently compression of the spinal cord), and the list goes on unfortunately.

I also didn't understand how it had happened, we had no genetic history of dwarfism in either of our families - I later found out that that is "normal" & it tends to happen due to a gene mutation (pretty cool really! - and just because both parents have dwarfism it does not mean that they can't have an average height child!)

That night, needless to say, I didn't sleep, instead I took my first step into a new world. One that scared me because I worried about my baby's health & all the people out there that make life miserable for those who are more different than they are used to. I was scared because we'd planned a home birth, something I'd felt so confident about, & now knew that even a vaginal birth in hospital came with a hugely increased risk of brain bleeding, lung collapse & damage to his spine. But while I spent my night reading everything I could find (& increasing my stress levels immeasurably about the whole thing) I also knew I had to find support groups immediately or I would loose myself completely, luckily I found many!

We've been welcomed into an incredibly resilient, warm & happy community. One that fights daily with social prejudices and physical ailments in a world that's not been built for their height. I have learnt so much and still am, and while I'm still worried for Elis in many ways I know he's already being surrounded by quite a cracking team.

We were incredibly fortunate to have his diagnosis already before his birth, I have now learnt that most don't find out until after, often months after & with plenty of less than pleasant tests (all we needed was a genetic blood test taken straight from me whilst pregnant as they had an inkling as to what he had).

And because we knew he could have some of his crucial checks done straight away. I thank our lucky stars every day that Elis wows us with his tricks & that he's doing so well. I know that his journey might not always be as straight forward as it has been.

Along with an entirely new vocabulary I have also come to realise that what most others will call his "disability", to me is his superpower. He already does things in his own different way & I'm in awe of these very adaptable people, I hope to make you feel the same!

#dwarfismawareness #hisdisabilityishissuperpower #october #dontknowwhatwedidtodeservehim