It has been suspected (jokingly) that I'm a mutant creature, now I have the genetic proof of it. And with the proof comes a new diagnosis. I guess I really need to start at the beginning of the "story" since I haven't posted about it publicly much since I didn't know exactly what would become of everything. Though technically, I suppose the beginning was conception, or whenever the gene mutated. But I'll start at the beginning of my introduction to genetic connective tissue disorders.
While troubleshooting unexplained pain in my foot, my podiatrist commented on my hypermobility that caused me to be very prone to spraining and twisting my ankles. He commented that he wondered if I had something called Ehler's-Danlos Syndrome or Hypermobility Syndrome. At this time, I was referred to a rheumatologist at the Cleveland Clinic to have an examination of my joints and tissues to evaluate the possibility that my hypermobility was a bit more than just being extra flexible.
The rheumatologist didn't have much to say, but referred me to a geneticist who did a family history, physical examination, and sent me for testing on my heart and eyes. The results of the tests showed that I did have some connective tissue problems which mainly were evident in my eyes and joints. So the geneticist ordered some blood tests and the period of not-so-patient waiting began.
The first two blood tests came back normal, so a third blood test was ordered. About a week ago, I got a phone call from my geneticist who told me they had some results, but they weren't complete. They found a mutation on the sixth chromosome which affects the formation of collagen.
It is time for your quick biology lesson about collagen. Collagen is made of proteins which form long chains. Three different chains "twist" to form a triple helix. Collagen is especially evident in the connective tissues, and is vital in the production of tendons, ligaments, skin, cartilage, bone, blood vessels, the digestive tract, the vertebral discs, and the cornea of the eyes.
The COL11A2 gene contains the "instructions" for the formation of Collagen, Type XI, Alpha 2, which is one of the strands which makes up the triple collagen strands (there are a total of 27 different kinds of strands). Because I have a genetic mutation on the COL11A2 gene, that specific type of collagen isn't made quite right, which causes problems in anything that contains that strand. The diagnosis related to the mutated COL11A2 gene I have is Stickler Syndrome, Type III. It is named after Dr. Gunner B. Stickler who was the first to identify the collection of disorders which he named Hereditary Progressive Arthro-Ophthalmopathies.
As the name suggests, the disorder is genetic (hereditary) and progresses as the individual grows older (progressive). Some organs are more affected by certain strands of collagen, the joints (arthro) and eyes (ophthalmo) are the most commonly and severely affected areas in those with Stickler Syndrome. Type III was originally known as the non-ocular type because it was believed that there wasn't eye involvement in this type, however further research has shown this may not be true. And in my case, I have severe ocular involvement. Later I will post more information regarding exactly what ways this new diagnosis affects me as well as exactly what it explains.
Count Your Blessings
After a friend, Kylee, was hospitalized after a particularly scary series of dystonic attacks and still chose to post 10 positives for the day, I decided to follow suite and post a list of my own positives. I also found this very appropriate quote which reminds me of the old hymn "Count Your Blessings."
Download the full song from iTunes
1. The weather has been beautiful! I'm loving the thunderstorms that bring the rain the crops, garden, and flowers need as well as the warm spring days.
2. The flowers are blooming like crazy, and I'm actually able to enjoy them as my meds have managed to keep my allergies fairly well in check.
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| A gift from a friend, beautiful blooms! |
3. I'm so grateful for the time I spend with my friends, especially my friend Mallory.
4. My God has provided me with so much and I am extremely grateful for all He has done.
5. I'm grateful that I live in a country where I can get health care, where I have privileges I might not otherwise have and where I can freely believe and worship God without fear.
6. I was able to stay up late and enjoy the "supermoon" the other night and it was a beautiful night.
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| Maigee admires the "supermoon." |
7. Maigee, my service dog, gives me independence and freedom to do things I might not otherwise be able to do.
8. I'm grateful for all my pets - Tyler, Roxie, and Rascal, the cats; Zac, the guinea pig; Loi, Hope III, and Tubby, the fish; and of course, Maigee.
9. My family, while they occasionally drive me nuts, are a blessing to me as well.
10. I'm grateful for all the wonderful people I've met through this journey!
The Effect of the Positive
I'm not the only one who is doing the April challenge to do something every day, there are others, and one got an interesting response on a post with pictures of some beautiful flowers she had photographed. The response said simply, "looking at flowers does not stop the pain." The blogger had her own response, but I thought I'd respond to it as well.
So, does doing something enjoyable, like taking pictures daily, looking at photos of beautiful flowers, or anything like that really help your pain?
I honestly believe it can. Not only does doing pleasant things alter the neurotransmitters that can affect your mood, but thinking positively also can help your pain. I know a lot of people who live with chronic illness or chronic pain hate hearing, "if you change your thinking, it can get better," but it is true.
Many people feel that using "positive thinking" as a method of treating pain is too difficult, doesn't show results quickly enough or dramatically enough. In a world where popping a pill is expected to be a "quick cure," people want to take a pill and see instant results. Unfortunately changing how you look at life isn't as easy as just popping a pill, and the results are not instant.
Changing your way of looking at life, your way of looking at pain, is far more difficult than filling a prescription and taking a pill daily. It requires careful evaluation of your thought process, and a willingness to recognize and change things. Not only that, but it requires you to accept full responsibility for your emotions.
Admitting that positive thinking has an affect on how you view your pain, and how it affects your life takes away some of the idea of being a "victim" of pain. No longer can you state that your pain "made you feel" a certain way, because now you know that pain can't make you feel any way, but you can choose how you feel in response to your pain. I love the quote below that has been bouncing around on Facebook, it is so perfect for those of us in pain.
We can choose each day to suffer in misery or to enjoy life as it is - and do our best to change all we can. I'm choosing to enjoy life as much as I can, I'm choosing happiness today and if taking some pictures, admiring nature, or doing a simple art project can help me feel happy and content, then I'm going to keep doing it.
The Last of the Photojournal
Today is the last day of April, and I must admit, I've enjoyed taking pictures to share a little bit of my life. I discovered it is an easy way to show the fun things in my life, and to show that my life isn't all about pain. The photojournal allowed me to share the "day-to-day" life of living in spite of chronic pain. And here are the last few photos, for now at least!
April 27: On the way home from a doctor's appointment today, I stopped at a greenhouse which had this really neat variegated geranium. I decided he needed to be added to my collection, and Tyler wanted to approve first.
April 28: My miniature rose bush is showing lots of buds, I'm hoping some are good enough to show in a few weeks for the spring garden show.
April 29: My friend Mallory gave me two amaryllis and the one is about to bloom, I'm not sure if it is the pink one or the red one, but we shall see soon!
April 30: Roxie and Tyler enjoying some inside play time. Roxie enjoyed the chair as her little island away from Tyler, while Tyler found this to be a personal challenge tempting him to discover how to get up there to "attack" her. Ironically, it was Tyler who did most of the "ferocious" acts toward Roxie, rather than the other way around.
Tyler Takes over Today's Post
After smashing my left hand yesterday, it is difficult for me to type much. So instead here are a bunch of shots of Tyler, some from yesterday some from today. I was going to pick one or two for my photojournal, but really, he is too cute to pick out just a few. Hopefully his adorable pictures and videos will give you a smile!
April 24
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| A new scarf - sleeping kitten style! |
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| Time for grooming |
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| I really hope those eyes stay blue! |
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| Interrupted during grooming |
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| Caught between sleep and play |
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| Time for a catnap |
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| Tired from all that play |
April 25
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| What is that? |
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| I'm hunting...something! |
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| Attack! |
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| Mouse thief! |
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| Maigee joins the attack of the mouse while Tyler observes |
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| Is it dead? |
Hope this gave you a smile for today and hope you have a wonderful day!
Photojournal: April 20 - 23
April 21: Maigee got an exciting present in the mail from her friends Kellyn (human) and Charlie (GSD mix who is also a Service Dog). It was a box full of home made treats, she loved them and even snuck a few more out of the box when I wasn't looking.
April 22: My little pea plant is getting bigger! It even has some tiny little curlicues which is what I like best about the pea plant. In other news I found a picture on a recipe web site which made me consider eating peas again. Unfortunately, I know I'll only be disappointed once again, no matter how yummy they look, they still taste bad.
April 23: This is the project I was supposed to be working on when I sprained my ankle. We had a digger-guy come over and he helped to lay a tile out of our house. Rascal apparently decided he needed to observe the work and be sure all was going well.
And, just because I can't resist, a video of my little Tyler having some fun outside. Sorry about the audio, it was pretty windy!
Photojournal April 16 - 20
April 16: Fish are hard to photograph, but here are two of the fish who live in my room - Hope III (female Betta) and Tuberosity (the cory cat, aka Tubby). I had to do a major cleaning of my fish tank because I noticed I had Planaria Worms, a non-parasitic worm that lives in fish tanks and feeds off the food remains.
April 17: Another part of the big cleaning project, my dad built new shelves in my closet. I've been wanting these for a long time, so I'm pretty excited about them!
April 18: I had a bit of an accident falling down the steps out our back door. Hurt my ankle which swelled up quite nicely.
April 20: This is a summary of my day, sleeping, reading, watching House, all with my foot propped up to reduce swelling and Tyler and Maigee looking on to be sure I am doing okay.
Photojournal April 10 - 15
April 11: Ike's brother came to live with us, so here is a shot of the two of us together. He was enjoying a nice nap, but when I grabbed the camera I woke him up and he decided to take a little stretch.
April 12: I'm undertaking a major cleaning project, today's project was to tackle the windows, which surprisingly are supposed to be white and not grey-ish with black mold spots. Above is before cleaning one and after the other was finished.
April 13: Daisy and Tyler hung out with me while I did some things on the computer, they were wrestling which soon went into a cleaning session.
April 14: After all the time that Tyler has spent inside, Roxie decided it was her turn, so she spent a few hours "helping" me continue my cleaning project. Her "help" was to supervise while laying on my bed.
April 15: Maigee decided that hiding under the porch was a great idea, which would have been fine if it hadn't been for the 50' rope attached to her that didn't maneuver under the deck quite so well. After I pulled off her harness, I still had to release her harness and the rope which were just out of reach. Laying on my stomach as far under the deck as I could get trying to reach the harness, the kittens decided that this was some great new game and thoroughly enjoyed it.
Photos of Enjoyment - April 6-9
April 6: After my mom bought a pie crust, disappointing my newly found skills at pie crust making, I decided to make a crust and turn it into ickles. Ickles are a pie crust rolled into a rectangle, covered with a layer of brown sugar and cinnamon, rolled up, and baked.
April 7: After experiencing digestive issues over the past few months, my GI decided to schedule me for a EGD (upper GI scope). I asked for a copy of my images to share, the results showed that I have a hiatal hernia which is causing the reflux. This is actually good news because it means that I don't have an ulcer!
April 8: I was getting potatoes ready for mashed potatoes for Easter, and I came across this "guy." I decided "he" looked like a little guy with a bad hair day!
April 9: While taking pictures of Maigee wearing her new bandanna from Custom Canines and she gave me this silly shot by yawning during the picture. I can't decide if she looks ferocious or like she is laughing.
I Like Ike
Thanks so much for the link to my blog from How to Cope with Pain, who made this original photojournal challenge.
April 5: Happiness is...a warm kitten sleeping on your lap.
Yes, our family has two new members. After my mom brought home a tiny calico kitten, it was decided that she was "lonely" and needed an age-appropriate playmate, as our adult cats weren't too fond of her. So we went back to the house to pick up another kitten. Since the calico is my mom's, this is my kitten, so I would like to introduce to you "Ike," named after the nickname of President Dwight D. Eisenhower (above) and "Daisy," my mom's calico (below).
Why Ike? Because this sweet little kitten is the grandson of my favorite cat who passed away 2 years ago at the ripe age of 15. Roose (short for Roosevelt) was a black and orange tortiseshell. When she had kittens, the lady that worked with my mom took one and named it Ginger. That cat had a litter of kittens, one of who was named Moose. Well, February 29, Moose gave birth to a litter of kittens, including the calico named "Daisy" who my mom now owns. And on March 2, Ginger gave birth to another litter of kittens, including Ike. So the two kittens are Roose's grandson and great-granddaughter, and are named somewhat after her with Ike being named after a president (Roosevelt) and Daisy of course being a flower (rose).
Update: Unfortunately, I had sad news, both Ike and Daisy have passed away since this blog post. They will be missed. Now we have Ike's brother, Tyler, living with us and are praying he will continue to live on in memory of his grandma, brother, and niece.
April 5: Happiness is...a warm kitten sleeping on your lap.
Yes, our family has two new members. After my mom brought home a tiny calico kitten, it was decided that she was "lonely" and needed an age-appropriate playmate, as our adult cats weren't too fond of her. So we went back to the house to pick up another kitten. Since the calico is my mom's, this is my kitten, so I would like to introduce to you "Ike," named after the nickname of President Dwight D. Eisenhower (above) and "Daisy," my mom's calico (below).
Why Ike? Because this sweet little kitten is the grandson of my favorite cat who passed away 2 years ago at the ripe age of 15. Roose (short for Roosevelt) was a black and orange tortiseshell. When she had kittens, the lady that worked with my mom took one and named it Ginger. That cat had a litter of kittens, one of who was named Moose. Well, February 29, Moose gave birth to a litter of kittens, including the calico named "Daisy" who my mom now owns. And on March 2, Ginger gave birth to another litter of kittens, including Ike. So the two kittens are Roose's grandson and great-granddaughter, and are named somewhat after her with Ike being named after a president (Roosevelt) and Daisy of course being a flower (rose).
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| Sweet Roosevelt |
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