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!