Achondroplasia 101

I have known for a long time that I wanted to write this blog post.

It is afterall, my intention to educate as many as possible about Lilah's condition.  I am sure that there are lots of questions out there... I think back to the many questions that were going through my mind over and over again when I heard those fateful words... "your daughter"... "dwarfism."

I left the doctor's office that day knowing very little about dwarfism.  We went through our lists of questions with our doctors... but they weren't experts and they didn't know the answers.  We made appointments with geneticists and the waiting game began.  It would be several weeks before those questions would get answered.  In the meantime, I took to the internet, but soon realized, I could only take it in small doses.  It was too scary.  I couldn't allow myself to dive into the world of the unedited.

So here is my attempt (and this should also be my disclaimer) to educate about Lilah's condition.  I am at the beginning stages of learning and I am by no means an expert.  If you find some information to be incorrect, please, feel free to correct me or add to what I have written.  I thought it would be the most helpful to start with the questions I had immediately.

What is Lilah's condition called?

a·chon·dro·pla·sia  

/āˌkändrəˈplāZH(ē)ə/ 

I first heard this word from my doctor.  He told me this was the actual term referring to my daughter's type of dwarfism.  It took me several days to pronounce and even longer to spell.  I have since learned that this is the most common type of dwarfism.

What are the physical characteristics of achondroplasia?

*shortened limbs (especially the upper arm and thigh bones)

*may have frontal embossing (enlarged forehead and head)

*may have bowed legs

*may have a flattened bridge at the nose

*short-statured (4' 1" is the average height for a female with achondroplasia)

*hands may have a three-pronged appearance

What are some potential complications with achondroplasia?

*low muscle tone

*acid reflux

*sleep apnea

*hydrocephalus (water on the brain)

*spinal cord compression

And while Lilah had a great first check-up at birth, she has since been diagnosed with moderate sleep apnea.  We are also treating her for acid reflux as a preventative measure since we (including the doctor) have reason to believe she has this too.

What causes achondroplasia?

In our case, since Corey and I are 'average-height,' upon conception a spontaneous mutation or misspelling in the gene occurred.  This 'misspelling' is then repeated over and over again as the gene divides.  The chances of two 'average-height' adults having a child with achondroplasia is about 1 in 25,000 births.  Now if Lilah chooses to have children, her odds of having a child with achondroplasia are much, much more likely.

And as a parent to a child with achondroplasia, this is what I want you to know...

Yes, Lilah has dwarfism.  Yes, she will look physically different.  Yes, she may have some medical complications in her life.

But really... she's small, that's all.

Just in her 10 weeks, I am learning there is so much more to Lilah than her diagnosis.  She loves to coo and sings sweet cooing songs just like a baby bird at your window.  She loves to cuddle and snuggle and burrow her face in a fuzzy blanket.  She loves watching her big brother dance and prance all around her just trying to get her attention.  She has learned to smile when you become the biggest ninny making all sorts of faces and noises.  She will watch you come and go and when you are gone too long, she will let you know!

My hope is to educate and create advocates for not only dwarfism, but for all differences that our children experience.  Let's teach them to appreciate and celebrate rather than discriminate.  It starts with us as parents at home and spreads to our friends, family and communities.  Together, we can make a difference and create a better world for our children.  

To learn more about achondroplasia and dwarfism please visit: http://www.lpaonline.org/

Please feel free to comment below and ask any more questions that you may have or to add to this post.  I would also love to hear about your experiences with differences, dwarfism or anything in between that you see fit.

~Leslie xoxo