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Wednesday, January 23, 2013

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

23 comments:

  1. Thank you for the very understandable description of achondroplasia. Very helpful!

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  2. when you lay your head down tonite, all the diagnoses, the fear, the unknown, all that is irrelevant, because in this moment, when you are rocking that little baby girl to sleep, and you look into her eyes and hold her close to your heart, nothing else matter, except the love you have for her... your love, her love... love is all that really matters xx

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  3. Thank you Roxie!! And thank you Lynne... that is very true and I fall more and more in love with her each day!! She is so special... I have such a deep love for her. I wouldn't change her or trade her for the world! xoxo

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  4. Differences come in so many ways. Our beautiful 34 year old daughter stands 4ft 8in if we stretch. Stunted growth due to radiation treatment of the head and spine at the age of three. This was the treatment for a brain tumor. Also a result of those treatments, mild retardation. She has and still teaches us so much! I can tell by reading your blog you are being taught as well. You have a wonderful gift of writing and educating us on the medical issues and life issues of dwarfism. Keep up the great work I love reading your blog!

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  5. Victoria~ Thank you so much for your comment! I really appreciate you taking the time to read about our story... I can totally relate to your story and I know your daughter has brought such light to your life too. I have only met her briefly, but I thought she was beautiful and lovely and so sweet. God is soooo good, isn't He? xoxo

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  6. Enjoyed reading your blog. My two month old grandson was diagnosed with achondroplasia also. He is such a blessing and has captured our entire family's hearts. Both of his parents are taller than average and like you, we still have alot of unanswered questions. We have learned alot about achondroplasia in the past 6 weeks from his pediatrician and some very helpful websites. I pray that your sweet daughter continues to thrive and do well. She is beautiful.

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    1. Hello friend! Just wanted to check in on you and see how your grandson is doing?

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  7. I have tried to post these 3 times :)
    Hopefully, now on my computer (and not my phone!) it will work.

    I had a student last year in my Kindergarten class with the same diagnosis as your daughter. The only things we needed for him was a step stool for the sink and his own trike for bike riding.

    The kids loved him from day one, accepted him and never seemed to think twice that he was smaller. He was just Michael.

    He moved schools for first grade but I often wonder about him, but I am pretty sure he's doing his thing :)

    Your beautiful girl will do big things too...thank you for sharing her!

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  8. Hi, Leslie! It was wonderful to meet you and Lilah (and later your dad) at the Children's Museum the other day. Such a heart-warming blessing! Thanks for sharing your family through your blog too-you have a beautiful one. :) You are wonderfully brave. I remember the onslaught of information in the beginning with Ellie too. It was overwhelming at times and didn't seem to connect to this sweet new baby that I was so in love with. But the Lord is faithful, isn't He? "He gently leads those that have young." I remember a few days after Ellie was born, amid the shock, He assured me that He had good plans for her just as He had good plans for everyone else. It is wonderful to watch them grow!

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    1. Hi Leah! Yay, thank you so much for taking the time to find my blog! Lilah has so many followers and people that already love her-- it is amazing! And yes, God is sooo good! I think our kiddos are a true testament to that! It was so wonderful to meet you too. I think that was by His doing too. If you have facebook or instagram, please connect with us so we can stay in touch! Thanks again ! XOXO ~Leslie

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  9. Hello, My name is Jennifer and my sonHarrison is going through testing now, my Dr believes he has achondroplasia. We are in CA...What state are you in? Your daughter is so adorable!!!! I may have the perfect man for her:) Thank you for posting such an awesome blog...it's people like me.

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    1. Hi Jenny! I am wondering how is Harrison? We live in Indiana but we spent the last 6 years n San Diego, so we know CA well! Thank you for finding the blog... it has been so theraputic for me to write about our journey. Check out my new post on a letter to a new parent of an LP... hoping it will be helpful. Tell me more about Harrison! Follow us on Instagram: dreambiglittleones

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  10. We are the grandparents of a wonderful little girl with achondrolasia and I just wanted to give you a 'hug'. You have a beautiful baby. May you all be blessed.

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    1. Thank you for your hug!! Yes, we do think we have a beautiful baby! We are not biased or anything! LOL. Please pass the blog on to your children and have them contact me if they ever want a friend. Feel free to follow us on instagram: dreambiglittleones to see our fun and crazy and wonderful life! XOXO

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  11. Hi Leslie, I came across your blog just now, while I wait for my 9 month old to have his MRI. He was diagnosed with achondroplasia at 2 mos. Lilah is just precious, congratulations. I can totally relate to all the emotions you've gone through. But God is good, and my husband and I truly believe that God only gives these special gifts to special families. Thank you for sharing your story!!!

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  12. I am currently 24 weeks pregnant. I found out a few weeks ago that our baby has short limbs (ribs, legs and arms) face abnormalities (cleft palete, forehead comes out to far). They also believe that his legs, arms and ribs may be fractured. They are unsure if he is a little person with bowed legs..or if he is a little person with oteogenisis imperfecta (brittle bone disease). As you will understand the anticipation is almost to much to handle. This is my second son, I have a three year old boy. I am very frightened and unsure about alot of things. Any advice for the next couple months before we find out for sure what is going on with him would be greatly appriciated. Thank you. (p.s I found your blog yesterday, and i havent stopped reading since. You give me hope. I read about when you found out..you were in a daze, that you didnt even see the leaves changing. That is where I was. Because of your words I am CHOSING to be happy. and I will fight with love and be a great mama to this baby. Thank you!)

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    1. Oh my goodness... cannot believe I just saw this now!! Thank you so much for reaching out... my heart sunk when I read that just now. The anticipation can be so difficult. I so clearly remember that and I wouldn't wish it upon anyone. I imagine that you are trying to get answers and preparing yourself for less than perfect news and everything else. Oh boy, I wish I had the right words for you right now. We consider ourselves very lucky with our Lilah, I wish everyone would have an experience like ours. We still have difficult moments but overall very blessed. If you ever want to talk, please e-mail me your phone number and I would be happy to give you a call. laspencer01@gmail.com. I hope that in reading my blog you are left with hope, a sense of community in the LPA, strength and acceptance. It hasn't been the easiest road but the best road I've ever had the opportunity to go down. Please keep me posted and I will be praying for you and that baby like crazy!!! XOXO

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  13. I too have a daughter with Achondroplasia, and we found out when she was just 6 weeks old, (but really should still have been in my tummy), as I had her at 30 weeks. To begin with it was all very overwhelming as my partner and I are of normal height also, and with all the tests that were being done and waiting for results. But I definitely wouldn't have her any other way, she is and always will be my adorable little munchkin, with lots of attitude....already!! She is now 5 months old (3 months corrected) and so far Dr's are happy with her progression, with no concerns at the moment. She is just being a normal little baby, just growing a little slower than normal!! Thank you too for this blog, as it is so good to hear about others, and their stories. Love to you all xxx

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    1. It's great to hear your daughter is doing so well! And it sounds like you are too... glad my blog could be of help... its purpose is to inspire and encourage other mamas out there! Thanks for writing! XOXO

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  14. Hello, I'm a father to 2 sons and the second one is 6 months old. Doctors are saying that our little one might have this condition as well but are still unsure. His HC is 45cm while his height falls into the 50% percentile (I think). What I have to say is I admire your courage because to be honest, I'm breaking down as I type this. The anticipation is just cruel... We were referred to an endocrinologist for further examination. Whatever the case, nothing will change, I love my son and I will give my life for him. Thank you.

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    1. I am so sorry I you haven't received a message from me yet... I thought I responded to this immediately but now I am not sure it got to you... Thank you for your reaching out. I am thinking about you and praying for you. Please let me know if there is anything I can do for you and your family as you go through this journey... you can look up Dream BIg Little One on FB and message me... I will give you my phone number too. Hoping your son is healthy!!! XOXO

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  15. Hi i was searching for someone to give me hope and some relief my 40 days baby is diagnosed woth achondroplasia am sooo down i need courage please help am soooo desperate howw ur little one hope she is doing great God bless her also i didnt talk about this with anyone except my husband

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  16. You can email me at laspencer01@gmail.com or call me at 858-703-7946. Leslie

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