Missing Pieces

Well, as promised, more on Shelbie because I know you are just sitting on the edge of your seat waiting to hear the latest and greatest in the life of us crazies!  Are you sitting down?

Shelbie doesn't have Vasculitis!  YAY!!!  Shelbie has Ehlers-Danlo Syndrome!  BOO!!!  What is that you ask?  Well, that explains her chronic and sometimes debilitating pain.  Ehlers-Danlo is a genetic disease that involves abnormal collagen.  The specific name of the spectrum that Shelbie has is Hypermobility Joint Disorder. The short explanation is that she has loose joints and they extend farther than they are suppose to. Because this is a collagen issue, it affects her skin, muscles, tendons, ligaments, joints and blood vessels and a host of other things.  It sounds benign enough and simple...but it's pretty complex and actually a bit scary.  Because of the involvement with her vessels, she is at high risk for strokes and aneurysms.

I am also in the middle of discovering if this is somehow linked to the abnormal telomeres.  Telomeres are responsible for premature aging.  They protect the chromosomes and chromosomes can only replicate so many times before they wear out...hence the aging process.  By the time this happens, theoretically a person is 80 or 90 years old and death comes.  Part of the aging process is the slowing down of collagen that our body produces.  I am researching if there is any link between a collagen disorder, which we have now confirmed and short telomeres.  I may come up empty handed but its a place to start.

This was huge news yesterday.  It explains so much!  I also feel really bad because I have often forced Shelbie to do things that hurt her.  I wasn't as sympathetic as I should have been when we were in New York for Spencer's wish and she complained and carried on that she was in so much pain.  I judged her, misjudged her.  The doctor told me that this condition is extremely painful and it will be a lifetime of chronic pain.  When we have to be doing strenuous things, there's a big chance that Shelbie will need to have a wheelchair, like walking around NY City.

I remember a few years ago, we were at my sister's in Edmonton and the whole family was there.  Everyone wanted to go to the West Edmonton Mall, a gigantic mall.  Everyone scattered and we planned to meet up for lunch.  It took the kids and I close to two hours to walk past about 20 stores.  Shelbie had to keep stopping because of pain and weakness.  I totally lost my cool.  I may have even said some things to her I regretted later.  Now, all those times I was inpatient are in the front of my mind and I feel horrible.

I have never wanted disease to define my kids so I push them.  Yes, we have a unique set of issues and illness but we have all sorts of blessings, hopes and dreams too.  No one ever dreams of being sick.  I never hoped or dreamed of having sick kids and the last thing I want to witness is my nearly 21 year old daughter in a wheelchair. I guess I've been too hard on her, discounting her pain, her fears and her feelings.  It's really tough to find a balance between what she can and can not do without giving in or giving up.  I guess this is all part of the process.  Something we will need to feel our way through.

There was one funny moment yesterday.  The doctor was having her do 9 physical things.  With each thing she did, she did it so well!  Inside, I was cheering her on...'You can do it Shelbie...show this doctor you aren't sick!'.  When she was successful, which was 7 of the 9 tasks, I said, "Yay! Great job!"  It was a proud moment.  Well, it was a proud moment until I found out it was a test for all the abnormalities she has!  The more she passed the more extreme this disease is.  Sad.  I guess I'll think twice next time my kids appear to be doing so good!

Well, that's it for now.  My mind is a bit of a tornado right now.  So much to process.  I posted to my SDS group if anyone was familiar with this disease and an impressive number of moms came forward saying their child was recently diagnosed with this as well.  It's nice to know we are not alone.  There's at least 5 or 6 of us with identical problems!  That's a lot in the world of orphan diseases, really!

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