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!

Q & A

I received the following comment on my post, Reflections on Laura's Back Surgery, and thought I'd take a moment to answer.

Question that is none of my business that you don't have to answer: Is this a genetic defect or what surgeries have you all had to have?

My mom and sister (and brother, but he hasn't had any surgeries... yet) have what's called Degenerative Back Disease (actually upon googling, I've discovered it's actually called Degenerative Disc Disease). This is genetic, which causes the discs in your back to become weaker and break down. They get smaller and smaller- compressing, causing herniated discs which press on the nerves. It's very painful. ---and that whole paragraph was contributed from my mom. Thanks mom!


My mom had back surgery 23 years ago in which they went in and reamed out the space where the nerves goes down to the hips on both sides. She also had a herniated disc, which they took care of (how we're not sure).  


Laura has actually had 2 back surgeries now. The first back surgery, which was about 5 years ago, she had a herniated disc and they went in and shaved off that disc so it wouldn't be pushing on the nerves. However, 6 months later after that surgery, she re-herniated the disc as she was trying to pick up one of her kids at Lake Powell. This second and most recent (and hopefully last!) surgery they went in took out the herniated disc and replaced it with a rod. The bone above and below that rod now need to fuse together with the rod.


Now for me. I'm not sure whether or not I actually have Degenerative Disc Disease, and honestly it probably really doesn't matter if I do or not. See, I have two rods that go the entire length of my back. So my back can't move/change a whole lot even if it wanted/tried. My first back surgery was when I was about 5-6 years old. My spine was curving so they went in and put a rod in the top half of my back. The second surgery was when I was 13 years old. My spine was still continuing to curve, and eventually would've gotten to the point of crushing internal organs. So... back in they went and this time they put in another rod, from the very top to the very bottom. I have a nice scar to show for it. (Actually have quite a few scars...) 


Hmmm... talking about this has made me decide to do a post about what disorder I actually do have.

Manti Pageant

So this weekend my mom, Spencer, Tiffany and I all headed south to see the Manti "Mormon Miracle" Pageant. It was the perfect fun little get-away. I have very vague memories of going to see the Manti Pageant when I was about 7-8 years old. So it was awesome to go down and re-experience it all. Hopefully this time I'll actually remember it. I'm confident I will. ;) 

We couldn't have asked for it to all work out better. When we got to the park we were going to pitch our tent at, we found a great open spot right by our car- and close to the bathroom (which is important). We went out to eat at this yummy place called Dirk's Farmhouse Restaurant. We got great parking and even better seating (about 8 rows back from the front and pretty center)- all thanks to my being disabled. Not going to lie- being handicapped definitely has its perks sometimes! ;) In the morning, breakfast was being served at the very park we were staying at, which worked out perfect. Can't beat $4 all you can eat! Now- for the actual play, I loved it! I thought it was well put together and entertaining. And it's free, so how much can I complain anyways? All around, it was just a great night and I'm so glad we made the trip down to experience it all.

Manti Temple, taken from my IPhone- anybody know
why it's so blurry compared to the other picture?

Manti Temple, taken from Tiffany's phone and sent to my phone.
It's so much clearer!! Weird. I thought IPhones were supposed to have pretty high quality pictures... Either way- the temple was BEAUTIFUL!!

**UPDATE: I figured out what was going on with my IPhone camera- I had left the back clear cover on underneath the hard cover. Once I removed that... all was as it should be.

Spencer & Tiffany in front of the Temple. Not the best quality
because all we had were our phones... we all forgot our cameras.
Oh well- still a super cute picture of them! 

Reflections on Laura's Back Surgery

My sister had back surgery a week and a half ago. I had no idea the memories and emotions this event would bring back to me. It's like a weird, out of body (because I'm not the one who actually had the surgery), déjà vu experience for me. Oddly enough, I think it's actually harder being on this side of things rather than the one lying on the bed in pain. I know that sounds weird- but there's just something harder about watching others suffer than being the one to suffer. Maybe it's because I've always been on the sufferer side of things, so the watcher is a new role.

It's also very strange to watch my mom taking care of Laura. It's like watching her interactions with me, but with a different person. And boy does it bring back the memories!! My mom is definitely good in her role as nurse/caretaker... I gave her lots of practice. ;) She knows when to be sympathetic and listen to you complain about how crappy and unfair you feel the whole situation is. But once your done complaining, she pushes you to see the positives- that things will get better, and in order to get better you gotta get your butt out of bed. No matter how much that's the last thing you want to do in the whole world and how much pain that will cause. Yes... she's very good in her role. And now that I'm not the person who's recovering and I'm just merely watching, I've gained a whole renewed sense of gratitude for my mom and all she did (and continues to do) for me during my surgeries. I couldn't have hand picked a better person if I tried.

One night while visiting Laura and giving Mike a break from everything, we all started discussing how easy it can be to complain and take your frustrations out on the person taking care of you. Laura made the comment along the lines of how you're just in so much pain and so frustrated with your body; but you can't do anything to change your body so you instead take your frustrations out on the person who you know will take it (but least deserves it). I started crying when she said that. Oh how I know that feeling too well. Sometimes I just really hate this physical body of mine and I wish I could say, "Thanks, but no thanks" and trade it in for a different one. But alas, I can't and so I must deal.

This experience has also made me so grateful to live in this time with all of the modern medical knowledge/technology we have. I can't imagine what I (and Laura) would've done if we were living 100 years ago. (I actually know what I would've done.... died. I wouldn't have made it past birth.)

Finally, seeing Laura in so much pain, hearing about the pain my mom was in before her back surgery 23+ years ago, and remembering my own pains I've experienced- has made me think a lot about the pain the Savior must have endured (and willingly no less!) in the Garden of Gethsemane. Not only was it physical pains He endured, but also all of our emotional/mental pains. It was for our sins, our sorrows, disappointments, frustrations, anger, and pain... everything. I can't even begin to fathom, and am merely just in awe. I'm so humbled and grateful that He loves each of us enough to suffer than in our behalf. I love my Savior, and His Gospel.

It's really hard to come up with clever titles to posts sometimes...

Well, and just like that, 2 weeks of my life have passed and I haven't blogged even one small post. Spence, you must be so proud of me. The "animal" has been tamed! ;) (Side note- huge shout out to my sister Stacy who has gone on a blogging frenzy!! She once joked that since I now have a blog of my own, I could blog about my frustrations about her lack of blogging. Stace- is this the key to getting you to blog more than once a month- not blog myself? If so... I'll never blog again.)

Major reason for lack of blogging? ... I got an IPhone 4- no S, just IPhone 4...saved $100 that way!! I absolutely love it, now that I've figured it out and am no longer utterly overwhelmed by the thing. I also have come to the realization that there's not a whole lot my computer does that I can't also do on my phone. This is both awesome and terrible at once. Hopefully I'll find some balance here soon between both devices (and time without any devices!!).

*No, this is not being posted from my IPhone. That'd be way too difficult.*

Because of said new phone- I've joined Instagram now. If you like, feel free to follow me at woman724. No promises on the frequency, interesting level, or quality of pictures posted.

The last 2 weeks have largely been filled with meetings with people at different local Church Service Missions (CSM) possibilities. I've looked into LDS Family Services (I'd be a secretary- no counseling, unfortunately.), Global Service Center (basically a call center for the church), and Special Needs Seminary/Institute.

I'm leaning towards LDS Family Services. Sure I personally wouldn't be doing anything psychology/counseling related. But I'd be getting to know people who DO psychology/counseling-related activities, and starting hopefully a really great network. And it could possibly lead into a paying job (still as a secretary) once the CSM is over. So why isn't this a done deal already? They want me to work Saturdays. Not ideal. Especially during the summer. I still need to pray about it before I make any final decisions. Ugh- I hate being an adult when it comes to making decisions. Which is kinda funny, because isn't that why kids can't wait to become adults- so they can make their own decisions? Of course- the decisions they have in mind is whether or not they have two cookies instead of one, and whether or not to stay up an extra hour later past bedtime. Ahhh- if only life were that simple, eh? But trust me, when I do finally decide- my people will let your people know. ;)

I've also done fun things like watch Sleepless in Seattle with my sister, Tiffany. I've never seen this movie before. How this happened I'll never know, because I loved the movie- it's totally a "me" movie! But movie aside- I just had tons of fun just talking with her about life. I'm so so grateful she's a part of our family. (Spence- you did a fantastic job choosing a wife!! ;)) I also went shopping with her for a white shirt I needed for my friend's wedding coming up, and for family pictures in August. Not only was the shopping trip a success, but instead of getting the shirt for the original $30 I thought it was going to be, I got it for $8.49. Is that a steal or what?!

Wedding season is in full swing now. Which means, I've gone to a bridal shower (for said friend whose wedding I had to buy the shirt for), and attended 2 receptions in one night. It's fun to see how different each wedding is, and see people you haven't seen in forever. Before the receptions, I was able to cross an item off my "Summer-To-Do List", which was to visit This Is The Place Monument/Park. I'd never been before (that I remember), and one of the receptions was there, so it was a great "2 birds with 1 stone" kinda deal. :) It's amazing to think of all the trials the pioneers had to endure to come to this valley. I'm so grateful that they made the sacrifices to make that trek.

Oh, and I've gotten new hearing aids that I'm still getting used to, but so far so good.

Finally, my life has also been filled with my sister's back surgery, and her recovery. But that my friends is a post in and of itself. And seeing that it's 2:20 a.m. in the morning- this is going to be all for now. Goodnight (or rather- good morning?)!!

P.S. Did anyone else notice the problems blogger was having with the fonts? Either way- it seems to be fixed, and I'm SOO happy about that fact!! YAY!

I Believe...

Confession: I didn't come up with any of this on my own. I found it somewhere on the big wide web, and did a little copying, pasting, formatting, and saving. But I do love all of these sentiments. Enjoy!

I Believe...That just because two people argue, that doesn't mean they don't love each other. And just because they don't argue, that doesn't mean they do love each other.

I Believe...That sometimes when I'm angry I have the right to be angry, but that doesn't give me the right to be cruel.

I Believe...That we don't have to change friends if we understand that friends change.

I Believe...That no matter how good a friend is, they're going to hurt you every once in a while, and you must forgive them for that.

I Believe.... That true friendship continues to grow, even over the longest distance. Same goes for true love.

I Believe...That you can do something in an instant that will give you heartache for life.

I Believe...That it's taking me a long time to become the person I want to be.

I Believe...That you should always leave loved ones with loving words. It may be the last time you see them.

I Believe...That you can keep going long after you think you can't.

I Believe...That we are responsible for what we do, no matter how we feel.

I believe...That either you control your attitude, or it controls you.

I Believe...That heroes are the people who do what has to be done, when it needs to be done, regardless of the consequences.

I Believe.... That money is a lousy way of keeping score.

I Believe...That my best friend and I can do anything, or nothing, and have the best time.

I Believe.... That sometimes the people you expect to kick you when you're down will be the ones to help you get back up.

I Believe...That maturity has more to do with what types of experiences you've had, and what you've learned from them—and less to do with how many birthdays you've celebrated.

I Believe...That it isn't always enough to be forgiven by others—Sometimes, you have to learn to forgive yourself.

I Believe...That no matter how bad your heart is broken, the world doesn't stop for your grief.

I Believe...That our background and circumstances may have influenced who we are, but we are responsible for who we become.

I Believe...That you shouldn't be so eager to find out a secret. It could change your life forever.

I Believe...Two people can look at the exact same thing and see something totally different.

I Believe...That your life can be changed in a matter of hours by people who don't even know you.

I Believe...That even when you think you have no more to give, if a friend cries out to you—you will find the strength to help.

I Believe...That credentials on the wall do not make you a decent human being. 

I Believe...That the people you care about most in life are taken from you too soon.

I Believe...The happiest of people don't necessarily have the best of everything. They just make the most of everything.

Graduation

**Warning- super long!**

It's almost EXACTLY 4 years from my high school graduation to my college graduation. It's only 1 day off. High school: June 3, 2008, college: June 2, 2012. I find that little fact both cool and weird all at the same time. Another thing I find weird (with a little cool, but mostly just weird) is that I now have the same level of education as my oldest sister. (Except I know that no matter how many degrees I may get, she'll always be smarter than me. She's just that smart!)

It's kind of weird to be "officially" graduating now since I stopped attending college last December. But it's still an important day, marking an important milestone in my life. I have similar feelings now as I did at my high school graduation. The feeling that there is so much possibility before me. I have my life wide open, and now just need to decide what to do with it (this is discussed in more depth in my previous post, "My Unknown Future"). It's both scary and exciting. I can't believe I officially have a degree now. I feel like there's so many expectations that come with that. Hopefully I can live up to those expectations.

I'm so grateful that I chose Westminster to attend college. I know in my heart that it was where I was meant to go. While I received a great education through hours of reading, studying, writing, and attending lectures; it was what I learned outside the classroom, that has the greatest value to me. Westminster is a very liberal college (at least, for Utah- it's definitely no BYU!). I remember before attending, people trying to warn me about the liberal side of Westminster and how I would be exposed to things very shocking to me. During their little "pep talk" I listened, but thought to myself, "Yeah, yeah. How bad can it be? We're still in Utah for crying out loud!" But I learned fast what everyone was talking about. On my first day on campus, while picking up my books from the bookstore with my mom (before I got wise and saved tons of money RENTING my books online- that's a huge tip I have for future college students!), there were 2 guys in front of us in line, arms around each other, and at one point they kissed. To say I was shocked (and disgusted) would be an understatement!! I was so shocked by it that after we left the bookstore, I turned to my mom and asked, "Did that really just happen?" To which she responded, "Yes it did! Welcome to Westminster!!"

Westminster exposed me to ideas and perspectives drastically different from mine, and especially different from Gospel standards. Through that exposure to those views my testimony grew and strengthened. I came to know for myself that the beliefs and standards I had been taught my entire life were true. I learned that while those standards aren't popular in today's world, I wanted to follow them because they led to greater happiness. I also learned how to stick by and stand up for my perspective (even, or rather- especially, perspectives formed from a religious background) when others didn't understand or agree.

However, the greatest and most powerful lesson I learned while attending Westminster is that people who don't believe/follow the Gospel standards are still good people. I already knew this fact intellectually before attending Westminster. But I learned this emotionally (for lack of a better word) while at Westminster. I learned to not be so judgmental and more accepting of those who are different from me. I learned how it's possible to not approve of/agree with what people do and think, but still love them as a person and all they have to offer. Case in point? None of my college friends are LDS. Not one (although I did get to meet and know some wonderful LDS people up on campus). My friends include an ex/anti-mormon who is now a lesbian, an atheist, and someone who believes in an afterlife, but doesn't know whether there is a God or not.

Me, Danielle, & Katrina
Love these ladies!! They both are amazing and I'm so grateful to know
and be friends with both of them. They have taught me so much and
have made such a difference in my life- more than they'll ever know.

My dad once asked me why all of my college friends weren't LDS. I firmly believe that's how it was supposed to be. I learned so much more from them, than I ever would've from friends who were LDS. Westminster was an experience I'll never forget and I'll always be grateful for. However, I also know that it is definitely time to take what I've learned and move on to bigger and greater things!

I must take a moment now to add that I also gained a greater sense of how involved my Heavenly Father is in my schooling. I couldn't have made it through college- or any of my prior schooling, without Him guiding and sustaining me. I know He was helping me through every paper, all nighter, exam, assignment/project, etc. He has helped me to understand and remember important information in order to succeed in my classes. Yes I had to put in hours of hard work, but I know He was there and playing a very real part in my academic success.

Alright, enough writing- here are some pictures from graduation day...

Danielle & I at the Graduation Brunch 

Me at the Graduation Brunch in front of the
Westminster sign and festive balloons

Mom, Me, & Dad- Graduation Brunch
Couldn't have made it to this point without either of them!

You can barely see me (you can actually see the scooter
better than me), but I'm in the process of shaking the College
President's hand, and receiving my "fake" diploma.
I was so nervous that my cap was going to come off while I was on stage,,
like it did during my high school graduation.
Thankfully, all went smoothly this time around!

This picture cracks me up. The enthusiasm on Scotty's face is overwhelming. But in all seriousness, it meant so much to me to have them both there. I consider them my second mom and dad, and I love them so much.

This picture will forever be priceless to me. Taunie HATES (to the point of refusing) taking pictures with her in it. A few years ago I wanted to give a picture of her and I in a frame as a present once, and the only pictures I had of us were from when I was a baby. And there were only like 3-5 pictures at that. There wasn't even a picture of us together at my high school graduation. That's unacceptable to me. Particularly when it concerns a woman who is so important to me and has played such a large role in my life. So I informed her that for my college graduation- we were taking a picture. Whether she liked it or not. So here she is, begrudgingly taking a picture with me. And I LOVE IT!! I think it's so cute of her, and even me (bonus!). That's true love right there!

I loved graduating with Matt! Unfortunately we weren't able to sit together during the ceremony. But it was so cool knowing that in the arena, he was there with me; and to be able to watch him walk across that stage. I'll admit that when he first started applying to Westminster, I thought to myself, "Hey! This is my school!" But I honestly have LOVED sharing my Westminster experience with him (along with our mutual interest in psychology). It is something that we will always share together. I am so proud of him and know he is going to make an amazing psychologist and help a lot of people.

A big day for the Jackman family- 2 Westminster graduates! (Actually, it was a big year for our family. Spencer also graduated with both his Bachelor's and Master's from the U- but that was in May. Also very proud of him!)

Mom & I
While a lot of people have helped me get to this point in my life, none have as much as my mom. She has been there for me every step of my life. She's praised me, encouraged me when I wanted to give up (and many times I came close to doing just that), helped me figure out how to do things differently when necessary, helped me figure out class schedules, how to work through problems with teachers/professors, helped me with numerous homework projects/assignments (sometimes staying up into the wee hours of the morning). She truly has been there through thick and thin with me through the entire journey. I couldn't have asked for a better mother. I hope to be half the woman she is. I love you Mom!!!

---------------
Sorry- more writing. Just wanted to write a few more things about my actual graduation day.

So in the morning was the Graduation Brunch. I was hoping to spend more time with my friends, but the stars didn't align for that. Either way, I was glad I saw them for the brief time I did, and I also saw some other classmates which was good. (And I got to buy a sweet Westminster blanket. If nothing else, the brunch was worth it just for that!)

From the brunch my parents and I traveled straight to the graduation ceremony which was held at the Maverick Center (previously known as the "E Center"). I wasn't able to sit with Matt during the ceremony, unfortunately. But I was able to sit with Katrina, Danielle, and Emilee, which I was so grateful for. I was nervous about everything going smoothly, and am happy to report that everything went great. (A tender mercy that occurred: I was on the second row, which turned out to be a blessing. Taunie and Scotty had to leave early because he had a baptism he had to attend- bishop duties. So thankfully they were able to see me "roll" across the stage, take pictures [I briefly left during the ceremony to take pictures with them], and still make the baptism.)

After all the graduation craziness, Mom, Dad, Matt & I went to Francesco's for dinner. All in all it was a great day filled with people I love, and a great sense of accomplishment and pride. This is a day I will never forget. Congrats to all of the class of 2012!!!

From Pinterest

(Thanks Laura for unknowingly letting me steal these from your account that you never signed off of on my computer. Love you bunches!!)