Wednesday, June 05, 2013

No Bones About It

The first thing I would like to say is that I would hope my Oklahoma readers would please leave a comment to let me know you are okay....I haven't heard from ya'll or seen the normal hits from that area so please leave a comment for me.

Okay, secondly, here's the lowdown on what is wrong with me.  Well...physically anyway.  The other would take too long.  I was diagnosed last Friday with Klippel-Feil Syndrome.  It is classified as a rare skeletal disease.  It is not fatal in itself, although in severe cases and with the complications some people do have a shortened lifespan.  I have a mild form but it is degenerative.  Klippel-Feil  is characterized by parts of the spine, usually in the neck, being fused together along with other internal deformities of various organ systems.  It is congenital.  These deformities developed when I was just a little peanut in my Mama and do not become more deformed as I grow older but as you age there are usually some problems that arise and this has been my case.  I went to my orthopedic doc last week because pains in my neck and more and more frequent bad headaches had begun to concern me.  They did an X-ray right off and even I could see immediately that something wasn't right when it flashed up on the screen.  I didn't know what exactly but my bones did not look right.  The doc took one look and said, Yep.  I have 2 vertebrate just about center of my neck that are fused.  The pain is from these bones causing the vertebrae above and below to degrade at a much faster rate than normal.  They are wearing away basically.  There is virtually nothing they can do to stop it.  They offer steroids, pain blocks and some physical therapy for pain management.  I will not take the steroids and don't feel it has gotten bad enough for a block.  I am going to try the therapy and see what that does.  And just not do things where I have to look up for long periods of time.  Over the past couple of years I had noticed that I would have a lot of difficulty doing that or it would result in a major migraine and now I know why.  The good news is that the MRI revealed that neither my nerves or spinal cord have been compromised.  My goal is to keep that from happening.  In extreme cases the bones can narrow and degrade to the point that it pinches or cuts into the spinal cord which results in paralysis..
This diagnosis also explains the other internal problems that I have come to be aware of these past few years.  Klippel-Feil patients often have heart irregularities although I think mine are fairly mild compared to most.  Deformities are also often present in the rest of the spine, the reproductive organs and the urinary system, including the kidneys.  I have a major deformity of my uterus, although some women are born completely lacking one and the ovaries too.  This problem has become a literal pain the past couple of years and may result in surgery at some point.  I am also concerned about the kidney aspect and plan to have that checked out as I've noticed a few issues in that area as well.

So.  It's sort of a crappy deal.  There are not many treatments and certainly no cure but I am heartily grateful that it is not worse for me.  Many people have some severe deformities and I can still do most things I want, work wise.  The goal is just to minimize the pain as much as possible.  I'm doing okay and only occasionally have a bad day where I just have to rest or take enough pain meds to just sleep.  I fully intend to keep up my work and whatever else I feel like.  It is somewhat of a relief or gratification to finally know exactly what is wrong and that the pain was not all in my head, so to speak.  I have hurt in one form or another since I was a teenager and it was always brushed off as "growing pains" or "Oh, Annie's just lazy".   So now I can say, HA!!  I knew something was wrong!  So, there you have it.  I told ya'll way back that I was the perfect mix of faulty genetics, lax upbringing and a crappy attitude.  I just didn't know how right I was! 


Pablo said...

Okay, first of all, I'm sorry this has happened to you. But I guess actually knowing what the problem is can make a big difference in how you face it. I hope it doesn't hinder your day-to-day life much or at all. You're still one of the most amazing, creative, hard working people I know, and I don't think those qualities about you are going to change.

Your oldest reader,

Hermit's Baby Sis said...

Ditto to Pablo's comment, even though I'm not your oldest reader, just one of the quietest.. Nice to at least have some affirmation, and a look to the future.

Ed said...

Glad you finally have a diagnosis. That's always the first step. Hopefully your PT goes well and keeps you on your feet for the foreseeable future!

myamuhnative said...

Kudos to the Doc for figuring it out.
Pablo is right, knowledge is power.
Fingers crossed that your therapy provides relief post haste.

edifice rex said...

Hey Pablo! thank you. Knowing what it is exactly makes a BIG difference to me and with that I think maybe some parts of it can be treated. I hope those qualities don't change either!

Hey Sis! thank you.

Hey Ed! Yes, I'm glad to have found out what the deal is!

Hey Mya! thank you!

ErinFromIowa said...

It is a relief to have a diagnosis. Girlfriend! You get a lot done with all you have to deal with. Good therapy thoughts!

Hayley said...

Sorry to hear you are having trouble, but it sounds like you are glad to have a diagnosis. I hope you won't let it get you down. You're a tough lady so I'm sure you will handle it well.

Anonymous said...

I hate idiot assed docs that tell you or imply physical ailments are in your head. Follow Freud's foolishness of hysteria? I think knowing now you can face the beast head on.
My sister was dx. with neuropathy of her lower extremities. Still no cause known. I think they are missing something. 50 years old. If they don't get it on the first try, they throw up their hands and go oh well.
Onward and upward and pace yourself. Read and learn all you can and continue to be proactive you in own well being.

woodysrockyridge said...

Questions answered. Here's hope and prayers that all will be manageable and more comfortable.

Beatrice P. Boyd said...

Sorry to read the diagnosis, which although it sounded grim, could have been worse. You already know what you will need to do to hopefully lessen the pain and discomfort and hopefully knowing what the problem is will help ease the discomfort. Thanks for feeling comfortable enough to share with your readers.

JO said...

Some Drs. get their license in craker jack boxes. I suffered for years with pain. I was told it was Arthritis and live with it. Well it isn't and while there is no cure it can does go into remission. Of course the meds are killers to your liver. Anyway we are survivors and we make the best of life.
Hope PT works wonders for you.

edifice rex said...

Hey Ya'll! thanks for all the well wishes. I appreciate your encouragement and support. Not a lot of people take it very seriously.