Hi All, I hope that you are all well and that life is treating you good. I finally have a diagnosis of my own, and thankfully (I think) it has nothing to do with Chiari. I have a disorder called Antiphospholipid Antibody Syndrome (APS). It is an autoimmune disorder in which the bodies immune system attacks its phospholipid cells. Phospholipids are in pretty much everything, but APS primarily affects the blood and arteries/veins and causes blood clots. Symptoms of APS include many different things, and APS has a tendancy to mimic Lupus and/or MS. The list of symptoms include heart attack, stroke, pulmonary embolism, chronic headaches, migraines, dementia, seizures, rash, heart valve problems, severe bleeding from the nose and gums, petechiae, movement disorder (chorea), poor memory, sudden hearing loss, numbness, double vision, difficulty walking, difficulty urinating, chest pains, shortness of breath, rapid breathing, abdominal pain, fever, blood in stool, nausea, vomiting, jaundice, dark urine, pale stool swelling of the abdomen, repeated sores (ulcers), repeated bumps (nodules), tissue in the fingertips to die, blurry vision or loss of vision, and complications with pregnancy to include recurrent still borns and miscarriages. Out of that extensive list, I personally have experienced (either constantly or at one time) strokes, chronic headaches and migraines, rash, heart valve problems, severe bleeding from the nose, movement disorder (chorea), petechiae, poor memory, numbness, vision problems, difficutly walking, difficutly urinating, chest pains, shortness of breath, abdominal pain, fever, blood in stool, nausea, dark urine, pale stool, skin problems on the tips of my fingers.
Although I have a slight herniation and definitely have some symptoms that could be attributed to Chiari, I think this diagnosis at least suggests that Chiari is not contributing to my symptoms. Not too long ago, I visited a NS to get an opinion on Chiari and was placated at the thought of having a decompression surgery. Can you imagine the shape I would be in if he said sure, I will do the surgery?
Why do I say all of this, several reasons actually,
1. Although we get aggravated with the docs, it is important to at least listen to what they say and do your own research. Many of us with rare disorders that are undiagnosed are desperate. I went into that NS appointment full of hope that I had found an answer and he would do a surgery and at least help relieve some of my symptoms and try to keep them from getting worse. I left there crushed and as aggravated as possible that I had once again hit a brick wall. While I didn't like hearing what he had to say, he was right. I could have been extremely persistent and narrowed my scope on Chiari and decompression and then went to NS after NS to find one that was willing to do the surgery. I am so glad that I didn't though.
2. The first test for my APS was ran on me in Sep 2011 after my first stroke, and it was positive. For a diagnosis, two positive tests are required at least 12 weeks apart, so we tested again, and once again it was posisitive. Between Sep of 2011 and Feb of 2012 I had a total of 4 tests for APS that were all positive. It still took me almost a year to get a diagnosis. While the tests were indicated as positive, the last three had comments on the results that stated the tests were either weakly positive or indeterminant. While my docs agreed that blood thinners were required to be safe, they weren't willing to make a diagnosis since it wasn't clear cut. They wanted me to be seen by a hematologist. A consult was sent and the VA hematologist denied it stating that I was just simply prone to clots and I should continue the newly started blood thinners, but there was no reason to see me. It took my case manager (neurology nurse, a GODSEND) walking down to his office, pulling up my record and saying LOOK! He reviewed my record and said "Oh, I need to see this guy, why haven't you reffered him to me?" She had a few choice words with him and I had an appointment the next business day. With that being said, it is just as important to be consistent, keep track of your test results and medical records and make sure your voice is heard. No one knows what is going on in your body except for YOU. Don't let anyone blow you off. A case manager is critical, whether it is you acting as your own case manager, a family member or friend, or someone in your healthcare team.
3. Although I don't have Chiari, or at least not diagnosed Chiari, can I still hangout? This group is a wonderful bunch of people, and even though we may not be going through the same exact thing, some symptoms are similar and I think we can help each other. In my search for answers I have come across several forums and support groups and I have yet to meet a group that is as kind, understanding, friendly and as genuine as this group is. I would love the opportunity to stop by, offer whatever advice I can and vent, as well as check up on everyone to see how everything is going.
So what's next for me? Antiphospholipid Antibody Syndrome has no cure and there is no surgery or treatment to completely eliminate the symptoms and complications. All I can do is work dilligently to keep my blood thin, either with traditional anti-coags, low weight molecular heparin or anti-platelets. Other options once the anti-coags no longer work include immune suppresent therapy and steriods to help limit the immune systems response to my healthy cells. Other than that I get to sit back and hang on for the ride. While it is not the best diagnosis, I am ok. I don't have to stress and worry anymore about trying to find a diagnosis so that I can make it all go away. Sure I hate the symptoms and am ready to get rid of them, but simply put, there is absolutely nothing that I or anyone else can do about it.