Thursday, May 14, 2009

EDS...My Diagnosis, Dislocations and Defects...

Diagnosis Dislocations and Defects:

  • Ehelrs-Danlos III Diagnosed 2007 - Any way you can bend I can bend better!
  • POTS: Postural Orthostatic Tachycardia Syndrome -Basically when I change position from lying to sitting or sitting to standing or something as simple as stretching/ arching my back in a chair, bending down to pick up laundry, shaving my legs in the blood pressure drops and my heart rate increases. I get a pass out sort of feeling then it passes, some days its pretty bad others I hardly notice it. The theory is with EDS III the connective tissue abnormality allows excessive amounts of blood to pool into the patients lower limbs when they stand up
  • Paroxysmal atrial fibrillation - This is a type of atrial fibrillation in which the irregular heartbeat occurs every so often. The heart eventually returns to its normal rhythm. It is hard to predict when episodes of paroxysmal atrial fibrillation will occur, and the causes are generally unknown.
  • PVC's & PAC's - Premature ventricular contractions & premature atrial contractions. A premature heartbeat comes too soon and interrupts the regular rhythm of the heart. The Different types just indicate where in your heart they originate. These are rather annoying and anxiety causing problems, they take my breath away, and sometimes happen in single episodes and sometimes happen in multiples that can be rather scary. For the most part they are benign but let me tell you they do not feel benign. I do take medication to help control them as well as the A-Fib episodes.
  • Right Bullous Lung Disease (Multiple Lung Bullae Right LOWER lobe) - Bullae are air-filled, thin-walled spaces in the lung resulting from destruction of alveolar tissue. With a Connective tissue illness abnormal elastic tissue in the body can cause alveoli to fail. They have a tendency to enlarge over time, run in families and are normally asymptomatic unless large bullae result in dyspnea (diffculty in breathing). Other complications include spontaneous pneumothorax or bullae that develop secondary infection or hemorrhage. I have had an infection and a partial pneumothorax, I tend to be super prone to getting pneumonia and any cold goes "right to my chest", I wheeze when I exercise, I get short of breath very quickly and low and behold my paternal grandmother has Bullae as well! My Lung is now followed by a super nice Lung Doc I get Yearly or Once every other year CT or MRI's to check the Bullae (pronounced Bully) stats. Didja know you can semi re inflate your own lung by doing a Valsalva maneuever, that is if its not fully collapsed! **Again I'm not a Doctor just letting you know what works for me**
  • Right & Left Shoulder- Right more than left. Right is the worst Joint on my body, it was the first joint to come out, the most painful, the one to endure two surgeries, the one that led to a horrible accusation by a surgeon that just plain old got it wrong and indeed the one that finally led to a diagnosis. My left shoulder is now on the way to joining its counterpart, it tries and tries but there is only so much you can do, I have great braces that I wear ( ) but they do NOT prevent dislocations in any way. The brace offers some support in painful times and are great immediately following a dislocation. My right shoulder sits at a subluxed position nearly all the time and my left one is almost there, I constantly am tense from trying to keep them in place. When I sleep my arms almost always go completely numb at least once during the night and I wake up to find yup somethings out or just pinched in a bad bad spot.
  • Left Knee- This knee is a relatively new one. It pops out at some rather odd times. It makes you want to crumple up and roll around when it happens, but you simply suck it up laugh in that freaky way people laugh when they hit their funny bone and jam it back in. I too have a brace for this, just a nice normal brace, nothing fancy!
  • Right and Left Ankle- These puppies are pretty fun. They can come out just by stepping. Imagine walking normally and then plop...yep that was your ankle. Or How about this Have you ever kicked you feet up on your coffee table, me too.... it popped them out... or I didn't adjust them before putting them back down and popped them out that way! Again I have braces for the ankles, they are nothing fancy but are not quite doing the trick anymore so I fear I may be heading for something more aggressive.
  • Hips- Constant Subluxation of the hips. The doctor simply said there is nothing I can do for you. Lifestyle modification is all I can recommend. Humm I almost despise those two modification. So Dr...... your telling me a while back when I took a step off a porch and my hip came out and as I was falling I reached up for anything but my arms could not hold my own body I flopped on the ground with hip out and two shoulders out of socket should just be part of my "lifestyle" ???....Sheesh The hips are darn painful as well, the left side clicks constantly and feel like they just grind inside my body.
  • Hands and Fingers: My Fingers are hypermobile and can bend in all sorts of ways. My handwriting was never anything to be proud of and I never tried hard to fix that because it always hurt so darn bad to write after so long. It was my grip!! HA if only I would have known! My fingers on my left hand are now locking in the hyperextended position. Its an odd sensation, its almost this panic that happens as I grab my hand and break the lock of the oddly shaped talon. I am currently in the process of getting ring splints for my fingers. We are looking into them for Pokey as well as he is approaching school, but in the end he may just have a "modified approach" when it comes to his hands and handwriting etc.
  • Jaw - My Jaw will Dislocate if I allow it to, I have to be so careful at the dentist it is not even funny. Not to mention I absorb any "caine" medication in a matter of minutes, its so hard to get me numb...oh did I also tell you how any dental med with epi makes my heart race out of here's the epi = shot, work, rest, shots, work, rest, etc or epi = monitor heart racing, fan myself, calm down, hey im numb, work fast, work, rest, ok still feeling like crap....ahhh done. My dentist is again a team player and always checks in with my Cardiologist.
  • Left Lower Ribs Sublux (yes that DOES really happen) - A cough a sneeze laying the wrong way a rib will actually sublux, this is a rather painful situation if you ever find your self in this predicament you will understand. You will hear the pop, you can feel the misplaced curved bone and again the pain as you wedge you finger up under or to the side as you gently but forcefully pry it back into the proper position. Yes my friends If I do not sit in a certain way when I cough this thing will actually pop back and forth while I cough. Sweetness.
  • The Veins in my hands and wrists and lower arms are more visible than usual, I sometimes wonder if some of my other veins would be more visible if it was not for my olive skin tone. The skin on my hands is very wrinkled and they look old for their time. This along with some of the heart and lung and my tendency to bruise by literally scratching my leg prompted my geneticist to consider EDS type IV as well and he highly recommended DNA testing, but low and behold my good old insurance company PREMERA BLUE CROSS denied the test as they did not feel it was medically necessary. ( No why should anyone need to know if they are at extreme risk for arterial rupture at any time, well I'm sure if I go off and have an aneurysm on them they would be wishing they would have paid for the stinking test rather than the hospital bill...yeah that was bad to say )
  • I also have whats called Adies tonic pupil, my right pupil is larger than the left and occasionally gets very large. If I have to have my eye dilated for any reason or any eye drop with a midratic (sp) in it my eye will stay dilated for literally 3 days! Lets see, my Fingers and toes are almost always freezing cold, sometimes just one or two, mostly all of them, they go numb occasionally and sometimes my hands will just lose their grip. I also have Livedo reticularis, its this nifty rash like pattern my skin gets as a reaction to the cold, it looks like chicken wire to me just purple.

My Son is Hypermobile as well Yes Diagnosed with EDS III, the giveaway was when his elbows started nearly dislocating when he began to crawl. His most mobile joints are his elbows, knees, wrists, fingers, and shoulders. He is acutely aware of what his body can do, its unreal. He is also acutely aware of the pain of EDS even at 4. Hes more than honest when he says his knees and ankles hurt today and the whole house knows when hes "popped" something. We have been educating him on sometimes his body is going to pop and its not going to feel good, we may not need to know every time but if its a pop that does not look right, hurts really bad or becomes unmovable then to let us know right away. I have not been able to carry my son since he was 12 months old, and unless we are in a very crowded place alone we typically do not hold hands...see he tends to be a bit clumsy, his ankles are weak if hes holding my hand and falls, my arm will come me its happened MANY times.

So I think I have listed most of my "issues" here. Its funny as I have had these issues most of my life yet it took until I was 27 years old and the birth of my son for everything to be put together into one diagnosis. After my second failed shoulder surgery my surgeon had the nerve to accuse me of doing it myself! Yeah because its so fun to dislocate things!! Don't get me wrong now since he said that I actually went home depressed and distraught and tried to manually dislocate my shoulder, though with high anxiety and fear of not being able to reslove the situation I wasnt able to manually do it, my GOODNESS it HURT! It was like a mental block, would just not let me "do it myself" WTF...excuse the language...I did not even attempt to dislocate anything else, many things like my Hips had been subluxing my whole life I just never realized what that was. My knees and ankles are new.... But hey that was no explanation for all the joint pain, and Everything else! I had even asked the dude if this was something that just affected me and my joints and would never be fixed, I mentioned that I noticed something strange in my sons elbows, but nope I was NUTS! The medical system fails many people at one point it failed me, but in the end I know have some of the best doctors I could have ever asked for.

My Son was diagnosed at Seattle Childrens Hospital and myself at the University of Washington (ironically the same hospital where the a-hole surgeon was.... Did I mention I got my 12,000$ hospital bill written off when I wrote a scathing letter regarding the accusation and about how their institution is suppose to be a leading expert in EDS and how I was diagnosed by one of their own leading geneticists in the end...oh yeah sorry had to toot my horn!) I am so thankful that I will be able to protect my sons joints as best as we can, we know he cant play contact sports and he has modified his way of handwriting and he snaps buttons with the pads of his hands due to his extremely hypermobile finger joints, but we make it work. He may never write cursive or he may make it work who knows but at least I know what the heck is going on and when some doc wants to fix his shoulder, elbow, fingers I will emphatically tell them no thank you, this Gumby needs her Pokey. Please note I list these issues not to have a pity party but for those seeking a diagnosis, for those with similar problem to chat with, to vent, for whatever.....afterall this is mainly my EDS blog. =)

I'm Praying for some soloutions, some healthcare insurance, Noah, Jonah, April Rose, Melissa, Elisabeth and their family because they all rock and I want them all to be healthy.

I'm Thankful for healthcare insurance, the fact that Thursday is my Friday, Grandma and Grandpa, 4th grade love.

I'm Hopeful for tomorrow, sunshine, the weekend, the Mariners!!!!, healthcare insurance, The number 8 horse being a long shot and winning the Preakness so I dont have to worry about that Healthcare insurance!!! Go General Quarters, forget about that 10th place at the derby!!

Gumby / Mommy Zebra

Friday, May 1, 2009

When you hear hoofbeats....think ZEBRAS!!! Did I Mention I am a Zebra..

Most medical students are taught the aphorism coined by Dr. Theodore Woodward " When you hear hoofbeats, think horses, not zebras".

Leonards Law of Physical Findings: Its obvious or its not there.

KISS Principle- Keep It Simple Stupid!

In Medical terms a Zebra is not the lovely cute little striped animal that roams the Savannah, it is the term for a rare and unusual diagnosis, an unlikely diagnostic possibility, an obscure and unlikely diagnosis from ordinary symptoms. In our world of EDS (Ehlers-Danlos) somewhere in our journey someone has heard those hoofbeats and have thought....wait a minute...a Zebra! For many many of us that has taken years, anguish, pain, denial, and strife. In the end being a Zebra is not bad at all, its rather honorable, I wear my stripes with pride. Each one represents the way I am different yet the same, I am still a horse shape just like you, my pattern is just different. Just like each Zebras stripe pattern is different each person effected with EDS has different stripes as well, we all manifest our symptoms differently, we all wear our stripes on the outside but each and every one of those stripes is unique just like our symptoms.

May is EDS awareness month. Now I do not want to forget that May is also national awareness month for many other diseases including Asthma, Arthritis, Neurofibromatosis, Hepatitis, High blood Pressure, Osteoporosis, Skin Cancer, and many many more. But EDS is very close to my heart as my son and I are both Zebras. We have Ehlers-Danlos Type III and I exhibit crossover features of Type IV. Below you will find some general information regarding Ehlers-Danlos and I will post additional information throughout the month of May. If you have any questions please feel free to ask!

Collagen is the most abundant protein in the human body. It provides structural strength in human tissues, including heart and blood vessels, eyes and skin, cartilage and bone. When muscles ligaments tendons and even large organs are built with structurally defective collagen, there can be systemic weakness and instability evident throughout. Connective tissue disorders such as Ehlers-Danlos syndrome cause multiple manifestations that affect the functions of the human body. Although the same genetic fault is inherited in a family, each person's body develops unique ways of handling EDS, often causing fragility throughout the body.

There are 6 main types of EDS:

Classical, Hypermobile, Vascular, Kyphoscoliotic, Arthrochalasia, Dermatosparaxis, as well as other reported types that await definition.

Here are some guidelines when evaluating a diagnosis for EDS. This is not a Full Diagnostic criteria list, I will review the types more in detail in future posts this month, and ***Again I am not a medical professional. I receive most of my information form the Ehlers-Danlos national foundation as well through personal experience. **

*Almost every person with EDS displays some degree of large and small joint hypermobility with:
-Pain, chronic and widespread.
-spontaneous subluxations / dislocations

* When testing skin hyperextensibility:
-find several sites not subjected to mechanical force or scarring.
-pull the skin outward until there is resistance
-not every site must show hyperextensibility.

*a Rehumatologist will probably take a family history and test hypermobility using the Beighton score, which adds a point for extreme range of motion in each of nine joints.
-high Beighton scores should not be the sole criterion for EDS diagnosis;
-children are hypermobile;
-aging adults score as less hypermobile;
-there are hypermobile joints not tested by Beighton that should be considered.

*Genetic testing at present can be useful for determining some EDS types, but cannot rule out the presence of EDS.

Well That's it for today...Stay tuned for My/Our Story, More information on the Types of EDS, Information on Pediatric Screening, Managing Hypermobile EDS (my way), and some more useful information.

I'm Praying for Noah, April Rose, Kayleigh, for guidance, for stability (not just in my joints!)

I'm Thankful for my son, my "job", my family.

I'm Hopeful for, Cory, for Josh, for Kindergarten

Gumby / Mommy Zebra