I am such a bad blogger. Well, maybe as far as updating goes (although I could certainly improve upon other areas). However, like I've read on other health blogs, when it is a blog about health (or the health of the blogger is horribly affected) sometimes the absence of posts is a true testament of the subject.
In any case, I saw Dr. Francomano last Tuesday (the 9th). And wouldn't you know it, but I managed to confuse yet ANOTHER specialist. Because of my "interesting constellations of symptoms", she is unsure if I have Classical Ehlers-Danlos Syndrome or Stickler Syndrome, another disorder that causes defective collagen; a different type is affected, but the symptoms are pretty much the same, with the addition of a higher chance of retinal and vitreous degeneration, although the skin and joints are similarly affected. I have enough of the CEDS symptoms that I could be diagnosed with that, but I have a few symptoms that are only found in SS, including some mid-face hypoplasia which no one has ever picked up on, but as Dr. F is very thorough and careful with her examinations, I am not surprised she is the first one to pick that up. In any case, she is SURE I have a collagen deficiency, just not sure which one right now.
She also puts you through alot of homework after the appointment (and I'm not complaining in one bit, as this is the first that anything has been done as far as treatment for this. One of the tests that can narrow down either CEDS or SS is an ophthalmology exam of the retina and vitreous, which was one of the follow up tests she ordered. I will be fitted next week for silver ring splints, and I've already been fitted for some of the plastic Oval 8's. I also now have an Aspen collar, and well, it's somewhat disturbing just how much it helps some of my ANS and balance issues. Not completely, but I suspect that cervical traction will show, probably shockingly so, how much my cervical spine has settled. On Dec 6, I get to make another trip back to Maryland, this time to see Dr. Henderson, the neurosurgeon. As he was recommended by Dr. F, I will try to quash some of my almost Pavolovian reaction to any medical professional before I meet them, as after meeting Dr. F, she is much better than I ever dreamed or hoped!
I won't lie, I have been a bit worried. I know that the craniocervical settling is NOT good, and Dr. F also mentioned Occult Tethered Cord and Chiari Malformation. I have had to ban myself from most medical websites (excluding a few message boards I frequent) and I think I overly concerned my poor priest when I asked him to remind me of the Catholic position on end of life issues (well, I am not CERTAIN I'm going to die anytime soon, but well, it's a fact of life, and it's good to be prepared). I have had to constantly remind myself of St. Matthew chapter 6 "Therefore I tell you, do not worry about your life, what you will eat (or drink), or about your body, what you will wear. Is not life more than food and the body more than clothing? Look at the birds in the sky; they do not sow or reap, they gather nothing into barns, yet your heavenly Father feeds them. Are not you more important than they? Can any of you by worrying add a single moment to your life-span?"
In any case, being diagnosed doesn't change the reality that I am sick... I'm very sick. And I am scared. But well, I'm no less in charge of my life now than before, and I am no less of someone who is struggling to pick up my daily crosses and follow Him. I just know more about my cross now.
2 comments:
Ericka, I joined your blog because my 21 year old daughter was diagnosed recently with POTS. Prior to that she was so sick she was in a wheelchair and could barely lift her head. We are trying to learn more about and understand this disease. I'm not sure I understand some of the complications you are going through with this post. Are they due to the POTS? Ashley was diagnosed at Mayo Clinic in Minnesota.
Hugs to you,
Mary
My primary disorder is the collagen deficiency. Because my collagen is so lose, my blood vessels dilate when I stand up, so most of my blood pools to my legs. If I stand up for more than a few minutes, you can see the edema starting.
I have not been diagnosed with Chiari malformation or the Occult Tethered Spinal Cord, yet. However, when someone with Ehlers-danlos syndrome or another similar collagen deficiency has symptoms of autonomic dysfunction (such as POTS) it is usually good to consult with a neurosurgeon. Because of the weak tissues, the cerebellum and brain stem sometimes can herniate through the bottom of the skull, where it is normally just the spinal cord. This is a Chiari malformation. Sometimes, a tethered spinal cord (the bottom of the spinal cord, instead of being free floating, is attached) can cause enough pressure to cause the Chiari to form. Because of these pressures on the parts of the brain that control balance and autonomic nervous system function, it can cause pretty bad symptoms.
I hope your daughter Ashley is one of the ones who will recover from it in a few years... and if not, it seems that she has a very supportive and wonderful mother who will be there for her!
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