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Stickler syndrome Tasha Joy Chenard, #helpustohelpyou

Posted By Donna Wicks, December 3, 2017

I want to talk about spoons. SPOONS? Yes, yes, spoons.
Prepare for a long post
(I’m honoured if you would read it…)

But first, as many of you know and for those of you who don’t I was diagnosed with Sticklers syndrome when I was in grade seven, “also known as hereditary progressive arthro-ophthalmopathy”. It is a genetic disorder that can cause serious vision, hearing and joint problems. Here is the confusing and frustrating part.

Two years ago my sister was pregnant with her first daughter. She wanted to know if she had Sticklers too (the geneticist we saw in 2005 wasn’t able to give a decisive opinion on her state of having or not having the syndrome), for many reasons Melody wanted answers for herself. One to know if it was possible she could be passing it on and another to be prepared for any possible birthing complications.

So off to the U of A she went and met with who I will refer to as “The Red Head Geneticist”. She was full of information we had never been told. She heard my story from Melody, and said she wanted to see a picture of me. When she saw a picture and after getting our family history from Melody she informed Melody that she had a hunch I was miss diagnosed, I did not have a “Sticklers face” and whether or not if it was Sticklers, no 24 year old should be living captive with herself like I was, and she thought her and her colleagues could help.

She told Melody that Sticklers typically presents itself the same within a family. Well when you look at my Dad and I, we do not present the same. He is legally blind (since birth, which she took issue with because Sticklers is normally degenerative over time not rearing its head until puberty/early 20’s in my understanding), Dad is also legally deaf, but that occurred after a freak accident while he was getting tubes put in his ears, in his 20’s (he had on going ear infections and possibly some deterioration had started. It’s hard to say.) So this said none of his symptoms were really following the trend of Sticklers. Sure if you just look at the symptoms they do. But not if you look at the cause. Also I have not presented any hearing or sight loss like one would expect if it is to follow a trend within a family (sure I wear glasses but I see a specialist every two years and they have never found cause to worry, also 2&1/2 years ago I started having freaky hearing loss where I go completely deaf with no warning and then it comes back over time whether a few moments or days. But after hearing exams they say everything is completely fine it must be a brain thing.) All my big issues stem from bone and joint abnormalities (like coughing and dislocating my ribs).

Another thing to note is almost every Sticklers person is born with cleft palate, neither Dad nor I were born with a cleft palate. So “The Red Head Geneticist” said she would like to see our whole family and reassess this diagnosis. (Note in 2005 no sample was ever given or tested, just a check list of signs and symptoms. I checked off enough for them to make a diagnosis at that time. But Dad had NEVER been tested, just the same thing, he ticked off enough signs and symptoms that they felt justified that a diagnosis could be made).

So we were given a family appointment date, and arrived at the U of A genetics (what would you call it a clinic?). I arrived full of hope, ready for this life giving mystery answer from the “The Red Head Geneticist”.

Here is where it all takes a turn. We did not meet with “The Red Head Geneticist”, (let me explain I was on all kinds of meds and pain meds at the time, also this ended up being a very emotional day, so there are some things I am a bit blurry on.) One of those facts is I still don’t understand to today why we didn’t end up meeting with “The Red Head Geneticist”, but “The I’m Retiring In A Few Months Geneticist”. So here we are with “The I’m Retiring In A Few Months Geneticist”, and she had read over Melody’s file from “The Red Head Geneticist” and Dad’s file he sent in and My file I sent in. She took one look at Dad and I and said. “Yes, you two have Sticklers.”

Cue the puzzlement, I thought I was here because I didn’t have Sticklers, and we needed to find out what it is that Dad and I have, and if Melody has it too. No, she is positive we have Sticklers. What about the whole, a family will present the same way thing? Or that Dad had not deteriorated over years… I’m still lost and confused.

Here is what she did tell us. We were told that there are different strains of Sticklers and that with a blood test they can determine which one is in our family DNA, that they will be looking for a mutation in one of the genes that instructs our bodies how to build connective tissue. I don’t remember how many strains they have discovered, but here’s the catch. They know of ways to find say strains A,B&C but strain D they can not find in a blood test at this point. Dad sends a sample in and months later it comes back with “not able to be determined”. So it is concluded that we must have the strain that can not be found in a blood test at this time. I am left wondering what “The Red Head Geneticist” had in mind. So many thoughts and questions swirl around.

It is also in our family meeting with “The I’m Retiring In A Few Months Geneticist” that she says there is no help or research in Canada for or on connective tissues. When I ask her in her experience with Sticklers if I should pursue a pregnancy, she, with very little tact, said it would likely be a bad idea. Now picture this, I’m in an appointment without my husband (Jonathan couldn’t get off work) just given massive news about our future, sitting across from my sister who is rounding out and due in a month (don’t get me wrong I WAS AND AM so happy for her, it was just in that moment incredibly gutting), after being told A.) the hope you came in here with today for a new answer doesn’t exist, B.) there is no help for me in this country, and now C.) If you get pregnant you will likely never walk again and have a hard time keeping the pregnancy, because your body can’t build a strong enough home for baby to stay in. I was destroyed inside, even though I was with my loving supportive family I had never felt so alone or in such a dark place as I was in that room, tears streaming down my face. “The I’m Retiring In A Few Months Geneticist” says, “Oh but you can take lots of vitamin C.” All the hope I went in there with was gone, I was 100% more confused then ever.

This is kind of where all of that ended, we still don’t have an answer, they said to call back in a few years and see if they have advancements. So now what? Was the massive question. We have found ways to help me cope with the chronic pain. There are still days I wish I could just pop a pain pill and have it metabolize correctly instead of sending me into hysteria. This is what I do know, something is not right, and whether I ever have answers or not I have to learn to live and cope with it. I know I am in pain, I know I am always exhausted and game for a nap. I know I have dreams and goals that I plan on achieving. But how?

This is where the Spoon Theory comes in. (Thanks for sticking with me.) It was first explained by Christine Miserandino. The Spoon Theory is a creative way to explain to healthy friends and family what it’s like living with a chronic illness. Limited energy is represented by spoons. Doing too much in one day can leave you short on spoons the next day. If you only had 12 spoons per day, how would you use them? Take away 1 spoon if you didn’t sleep well last night, forgot to take your meds, or skipped a meal. Take away 4 spoons if you have a cold. Waking up with stiffness and pain handover 1 spoon. Joints still sore need to take a shower handover 2 spoons. Getting dressed need to reach your feet to put socks on, do up a few buttons maybe change outfits a few times cause you wanna look your best? That’ll be 2 more spoons please. Gotta make it to the kitchen to make breakfast, handover another spoon. You can see how this goes…

Take this weekend for example, I made sugar cookies on Saturday with Jon, then we shopped for ingredients, I’m also trialing contact lenses (thats extra effort and draining as they start to irritate), get home put groceries away, make the dough, roll the dough, cut the dough repeat. Then ice all the cookies. About 1/2 way through my stomach got sick and Jon ended up finishing it all by himself. I’m lucky he understands and will do what ever when ever he can. But I missed out on the fun. By 8 that night I was tapping into Sundays spoons. Didn’t sleep great Saturday night. Jon couldn’t get me awake Sunday morning, every time I tried to get out of bed everything hurt with a vengeance. Finally around 12:30 I got up and got ready for the day. We had planned to work on a few Christmas gifts we are making in the garage, so out we went. I didn’t want to wreck my new runners so I started with flip flops. I know not my brightest. That quickly shot my knees and feet so in the house I went tracked down my slippers which had my insoles in them and transferred insoles to runners. Back in garage, first coat of paint done.. I think you get the picture by 6 yesterday I was so fried I couldn’t get myself out of the grunge clothes and into street wear, because we needed groceries. Jon helped me get changed. I didn’t need to go with Jon… but I knew he is working lots this week and the only chance I would get to go out wouldn’t be till Thursday. So out we went. By the time we got home I was hardly able to move. I woke up this morning after a very restless night due to pain and could hardly get to the kitchen for breakfast. I need to learn how to better pace my spoons… but also there are times and days where I need to tap into the next days.

Today I pay for the weekend, in all reality probably tomorrow too. I couldn’t even write this if it wasn’t for speak to type technology.

I’m grateful for all we got done, I’m filled with happiness looking back on the Christmas joy we got to share as best friends, the laughs and impromptu garage dances. Today I choose to revel in the great productive weekend. Learn what I can about balancing pacing. Look to the future where we might have answers.

I have learnt this. A diagnosis is just a name for the reality already being lived, it shouldn’t change anything other then possible help. So with or with out a diagnosis I dig my heals in, brace for the ride and choose joy.

Thank you for reading this, thank you for taking a step in understanding a bit about my life. If this in anyway helps you please let me know. Remember we are not alone!

Tasha Joy Chenard

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