Goals for 2014

Did you make any New Year’s Goals or Resolutions?

I like the word goals better because it is something to work toward rather than saying I have to do it.  That means if I mess up, I can just get right back up and start off again, rather than giving up because I broke my resolution.

Here are my 14 goals for 2014.
1. Learn to love myself.
2. Take at least one online course to learn something new.
3. Train my dog in rally and earn a title.
4. Spend 10 minutes each day cleaning or organizing something.
5. Do art more often.
6. Learn to set boundaries with family and friends.
7. Track my calories and exercise on SparkPeople.
8. Grow at least one cavy out to adult coat.
9. Read the entire Bible.
10. Blog at least once a month.
11. Continue to research my medical conditions and options for improving my life.
12. Get rid of excess in my life.
13. Train a rabbit in hopping and/or a cavy in obstacle.
14. Remember that each day brings blessings for that day.

Finding Joy in the Little Things

Life has been rough the past few weeks.  As allergy season began with the blooming of the trees and flowers, I had the typical allergy reactions I have every year.  They aren’t fun, but are usually tolerable for the most part.  This year, they moved into my chest and I developed bronchitis.  A visit to the doctor after a week of misery, coughing, and not breathing and I had some medication that got me to feeling better.
Then suddenly I developed other symptoms – a return of my fever and fainting.  Concerned, I returned to the doctor to get things checked out.  The fever could be from the bronchitis, or unrelated.  The fainting is a bit more concerning, and the doctor wants to check it out.  In the meantime, I’m supposed to drink more water and change from sitting to standing slowly.  Those who know me probably know that I don’t move very slow – ever.  It is a real challenge to remember (though the lightheadedness every time I stand does sort of remind me).
So I’m spending much of my time resting and drinking water, and while I could find plenty to complain about, I decided to find some things that I’m thankful for instead.  Sometimes it is easy to be joyful about the big things, but we miss the little things.  So here are five things I’m finding joy in today.
1. Funky socks that my secret prayer partner gave me (this is just one pair, I have a bunch!), because it reminds me that someone is praying for me and because they are adorable.  I got three compliments on them today at the doctor’s office and blood lab.  The weird lump is from the gauze over the blood draw site, my foot isn’t deformed.
2. A good book to read, I happen to have won this particular book for a winning contest entry at the blog How to Cope with Pain.  I just started the book and am enjoying it, but I will let you read How to Cope with Pain’s review.
3. If you have to drink water, what better thing to drink it out of than a water bottle that reminds you of your friend and makes you smile and laugh every time you read it?  My friend’s last name is Pond and they own Pond Seed Company who makes this hilarious bottled “Fresh Pond Water.”  The label is awesomely hilarious (click to enlarge and read this side).  Granted it has been refilled with well water, but still it makes me laugh!
4. While relaxing in bed, it is always nice to have a smiling face hanging around, and Cow always has a lovely smiley face on – regardless of how I’m feeling or how much I’m squishing him. He is soft and cuddly and smiley.  Yes, my frog’s name is Cow, don’t ask.
5. Finally, the thing that is saving my sanity of having a fever while it is in the 90’s outside with high humidity (read – tons of sweat!), my awesome box fan.  Cooling and lovely white noise that drowns out the tinnitus all in one!

Rare Disease Day – All About Stickler Syndrome

General Information
  • The rare disease I live with is Stickler’s Syndrome, Type III (formerly hereditary arthro-ophthalmopathy) as a result of a mutation of the COL11A2 gene.
  • Because of a genetic flaw, my collagen strand is weaker than normal.  This affects hearing, vision, facial development, and joints.
  • Stickler Syndrome is so rare that it doesn’t even have it’s own diagnostic code, it is billed under the same code as many other rare genetic disorders or billed by symptom (sensorineural hearing loss, joint pain, etc.).
  • Aside from the geneticist who diagnosed me and the genetic ophthalmologist who saw me at Cleveland Clinic, I have never met a doctor who has heard of this condition.
  • The disorder is progressive and joint pain, vision loss, and hearing loss will progressively get worse as I get older.
  • I was diagnosed after genetic testing in the year 2012, but I had symptoms before I was born.
Symptoms
  • The first noticeable symptom was my deteriorating vision.  I was prescribed my first pair of glasses when I was 2 years old.
  • When I go to the eye doctor, I cannot see the large E that takes up the whole screen without my contacts.
  • I’m not considered legally blind because my corrective lenses can get my vision close enough to normal.  This could change any time as I am at very high risk of macular degeneration, retinal detachment, or glaucoma.
  • It is ironic because Type III of Stickler’s Syndrome is known as “non-ocular type” but I have extreme ocular (eye) involvement.
  • I have been diagnosed with mild sensorineural hearing loss, which will progressively get worse.  At this time, I don’t need hearing aids, but may need them in the future.
  • I’ve had painful joints for most of my life, when I was younger, I didn’t really know it because I’d never experienced my joints pain free.  I tended to say that I was “tired” when I really meant I was in pain.
  • Which joint is most painful varies from day to day.  I wear various braces and patches to help with pain and correct hypermobility.
Life with a Rare Disease
  • People would be surprised to know how much this diagnosis scares me.
  • The hardest thing to accept about my new reality has been the progressive nature of this disease, and the constant threat that it will be worse.
  • Most people assume that because I look normal, I’m normal.  They can’t see the pain, the hearing loss, or the vision problems, so surely it can’t be that bad.
  • Something I really miss doing since I was diagnosed is looking at something without thinking about whether I’ll ever see it the same again and wondering if I can do certain things I love if I lose my vision or hearing.
  • It amazes me how much of a difference in my life one tiny mistake in my DNA can make.
  • If I could have one day of feeling normal again I would ride horses all day and enjoy that it doesn’t cause any pain.
  • My illness has taught me to value every day – every sound, sight, and low pain day.
  • I love it when people take time to get to know me – all of me, the illness, the good, the bad, and more.
  • My favorite scripture that gets me through tough times is: “‘For I know the plans I have for you,’ declares the Lord, ‘plans to prosper you and not to harm you, plans to give you hope and a future.'” Jeremiah 29:11
  • When someone is diagnosed I’d like to tell them that this diagnosis isn’t the end of the world. Most people get this diagnosis when their child is young and it can be scary, but I love my life and can live with Stickler’s and love life too.

Rare Disease Day

About a year ago, I was diagnosed with Stickler Syndrome. Stickler Syndrome is a common, but rarely diagnosed progressive genetic disorder that causes severe myopia (nearsightedness), blindness, loss of hearing, facial development problems, hypermobility, and joint pain. I am finally to the point of acceptance that I’m willing to talk about it and be more open about it, and I’m looking forward to Rare Genetic Disease Day celebrated on February 28 this year (traditionally February 29). Throughout the rest of the month, expect to see more information in posts and on my blog.

Glasses Memories

Trying on an old pair of my grandpa’s glasses

One of my first memories is of sitting at the dining room table, next to one of my grandparents, peering through the edge of the large glasses he wore, amazed at how different the world looked.  I got my first pair of glasses at three years old.  As I grew older, my eyes got progressively worse, though I am fortunate enough that my vision is normal with contacts.

Though technically referred to as “High Degenerative Infantile Myopia,” it is more commonly referred to as nearsightedness.  It turns out, I don’t just have bad eyesight, but I have a genetic condition known as Stickler Syndrome which is known for causing very high myopia from a young age.  It also causes progressive hearing loss, but fortunately, I only have mild hearing loss at certain frequencies.  One other thing it causes is hypermobility, joint pain, and early onset arthritis.  It can also cause a cleft palate or cleft lip, but I don’t have either of those.

Goodbye Gallbladder, Hello Trust

Remember the nausea and related problems that contributed to my medical leave of absence in February?  Turns out it wasn’t the flu, an IBS flare-up, or even another kidney stone.  As my symptoms continued and even became more severe I started seeking some answers and thus some help.  My gastroentestinologist did a few tests including an EGD which showed a slight hiatal hernia, but that didn’t explain all my symptoms, even in combination with Irritable Bowel Syndrome.
The next step was to have an abdominal ultrasound followed by an imaging study to track the function of the gallbladder.  This showed that my gallbladder was functioning well below normal in spite of the fact that I had no stones (the most common cause of gallbladder problems in my age/gender category).  I have once again proved to be unique by getting chronic acalculus cholecystitis, with typically occurs in men in their 40’s to 60’s, or patients with severe burns, in a coma, or on long-term IV nutrition – none of which apply to me!
There aren’t really any management techniques that work for this, so the only treatment option is to remove the gallbladder.  Surgery is scary to everyone, but as someone who lives with chronic pain that could potentially spread with even a minor injury, surgery is potentially life-changing.
I learned long ago that worry and fear do nothing to benefit me and only adds to stress and anxiety which causes pain flares, which turns into a vicious cycle when the increased pain seems to confirm the pain is getting worse or spreading.
A Cycle of Pain, Fear,and Anxiety

I wrote a post about this back when my foot problems began, but I have continued to recognize the importance of trusting God with my future regardless of my fears.  The only way out of this vicious cycle is to break it at one of the points so it doesn’t spiral out of control.  For me, the best place to break the cycle is when the fear first begins, before it becomes an anxiety or worry.
I recognize that my worry simply cannot help the situation; if anything, it has the potential to make things worse.  So at that point, I accept that what is going to happen is going to happen, regardless of how much or little I worry.  Then I choose to allow God to be in control, and trust His wisdom is greater than mine.  When I start to worry, I know I can relax because he is in control.

For those as curious as me – a picture of my gallbladder through the laprascope prior to removal.  There is actually no visible blood (except in bloodvessels) and isn’t really gory at all.  Click here to see!