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Wednesday, June 27, 2012

Stickler Syndrome... with visuals to make it fun

Never heard of it before? Yeah- I'd drop to the floor in shock if you had. Not even doctors have heard it before. So what exactly is "Stickler Syndrome" anyways? Stickler Syndrome is caused by a mutation of specific genes. In my case, this mutation is an autosomal dominant pattern. This mutation can either be passed from a parent (my biological children have a 50% chance of inheriting Stickler's Syndrome). However, I did not inherit Stickler's because no one on any side of my family has ever had Stickler Syndrome. This means my Stickler's resulted from a new mutation on the genes.
     *Side note: I know that this didn't occur by chance, and I was meant to be in the body I have. I have a very firm testimony in the fact that it is Heavenly Father's will for my life. Why Heavenly Father chose Stickler Syndrome-and not Spina Bifida, or Multiple Sclerosis, or Dwarfism- I don't know. And frankly, I don't care cause it really doesn't matter.*

As with most things, Stickler's can affect individuals in a variety of ways to varying degrees.

Specifically in my case, it affects my skeletal system. It causes me to have extra large joints- resulting in me not being able to make a fist with my hands, kneel on my knees, etc. I also have a smaller rib cage. I have kyphosis, scoliosis, and lordosis- meaning any possible way my back can twist and curve... it does.
This picture isn't to show how cute Makai is
(although wasn't she ADORABLE?!)- but rather to show my hand.
See how large my knuckles are, and overall deformed the hand is???
Common with Stickler's is flat facial features, which I also have. The bones in my cheekbone and the bridge of my nose are apparently underdeveloped. I was also born with a cleft palate, very common with Stickler's.
Notice the flat facial features! I really do hate my nose.
It's so childish. Only kids have "button" noses.
So all you out there with "carrot" noses- be grateful!
I also have hearing loss, another common feature of Stickler's. Therefore require the use of hearing aids. And because of this- I also have the very useful ability to read people's lips!!
My actual right hearing aid.
Another common feature with Stickler's are eye abnormalities. Possibilities include: severe nearsightedness, glaucoma, cataracts, and retinal detachment. In some cases this can cause blindness. Thankfully I have had no problems with my eye sight so far. I don't even wear contacts! YAY!!!

Here's a website to check out if you're interested. I found it to be very helpful and informative. Even I learned new things about Stickler's!! http://ghr.nlm.nih.gov/condition/stickler-syndrome 

Now there's a few things in my life that are not necessarily related to Stickler's. I'm extremely short (only 3 feet, 7 inches tall). I used to take growth hormone shots everyday when I was younger. A lot of good that did... (sarcasm).

Also the fact that I use a walker, wheelchair, and sometimes a scooter is completely unrelated to Stickler Syndrome. At the age of 4 I went in to have surgery on both my hips to help me walk better (they went in, cut both hip bones, rotated the bones and then put screws and plates in). However, unfortunately during that operation I became paralyzed from the chest down. What happened was that unbeknownst to everyone my back muscles were rigidly supporting my spine. When they gave me the epidural after the anesthesia, my muscles could no longer support the spine. It relaxed, and my spine was pinched causing paralysis. Through a miracle I have regained partial feeling and movement back. But I still require the use of a walker for short distances, and either a wheelchair/scooter for long distances.

Wow, this is long. Hope it wasn't too boring for you to read! If you have questions- feel free to ask!! :)

For information about LDS Disability Resources, click here!

11 comments:

  1. I HAVE heard of stickler syndrome, so I expect you to fall to the floor in absolute shock right now. But I have only heard of it because my little sister has it (you), so maybe it doesn't count. Dang it all! That picture is so cute of you & Makai, she was SOOO small! And who did your make-up in the other picture? ;} You look absolutely gorgeous in that picture! Beautiful! And I happen to like your button nose.

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  2. Thank you for this! For the record, I have never noticed flat facial features on you. I think your nose is adorable! I think you are stunning! Inside and out!! I did not know at all about the surgery mishap. That is so unfortunate! You are such an incredible example of faith to all who know you! You truly are a hero!! Love you Jess!

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  3. It's not only kids that have button noses - Don't forget about Frosty! I bet he was pretty upset too because all the other snowmen got carrot noses and he only got a button nose. But he's the most beloved of all the snowmen out there, so I think you've still got a lot going for ya, Jess. You and Frosty. I'm just sayin' . . . LOVE YA!

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    1. Stace- your comment is AWESOME!! Never looked at it that way. Puts it in a whole new perspective. Seriously- thanks for making me laugh. LOVE YA TOO!!

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  4. Hi there, my sister in law has Sticklers and she was the first person I knew to have it! Good to meet you on Blogger and thanks for the info.

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  5. Hey, I have never heard of Sticklers and don't even know how I ended up on this page , but I'm very glad I did!:)
    How open you write about your story and your general positive attitude is very inspiring to me. I once read "The only thing that disables us are our thoughts" and I think that's so true!
    And being as brave, strong, determined and faithful in your own abilities as you seem to be, I agree with you - You most definitely have not reached your full potential yet.
    I really believe you can do great things in your life. Such an attitude towards life is very rare, and as I have found - very personally rewarding.:)

    Thank you for sharing your story! And I disagree with what you say about your nose. When I saw that photo of you, I just thought you are so beautiful!

    Greetings from Brisbane, Joana

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  6. Hi Jessica, I just stumbled across your blog and I am secretly jumping for joy because we have lots in common. I,too have Sticklers and am LDS! We share several of the same Stickler's symptoms- THAT doesn't happen very often! Also wanted to say you that look gorgeous in your turquoise shirt picture! If you want to "pen-pal it up" my email is Steffer777@aol.com. It'd be fun to chat, I think :) Take care ~Stephanie from LA

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  7. Hi,
    Lovely blog:-)
    I have two grown up daughters with Stickler Syndrome so I know a lot about it.
    Keep up the good work.

    Angela

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  8. Thanks for sharing. You are incredibly strong and awesome...AND Gorgeous! I love your nose!

    Kim --penn state hershey pediatrics

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  9. I did a search today for adults with Stickler's and came across the story of Jessica and her family. I just want to extend my condolences and sympathies to the Jessica's and the other families. Jessica was a light to many who obviously knew her and strangers who never met her. My prayers are with you all. God bless. Thank you for keeping Jessica's inspiring blogspot up.

    Sincerely,
    Carl Kienzle
    Dayton, Ohio

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  10. Hi Jessica, I just found your page today. I've been searching for some others that have SS. I personally have all of the issues connected with Sticklers. I am now 67 years old and really just starting to begin to find a diagnosis so that I know longer feel like a hypochondriac or weird. You are absolutely darling Jessica. I have always disliked my looks. I have a pug nose, as we call it in our family. I have to say you've given me hope today, and I thank you for your story. Did you ever think you could help an older woman by writing your blog? God bless you Beautiful One. Lynn

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