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Hi Family & Friends...

And here is the link to what we found out while we were out here.

Many of you have been asking about the current medical info & wanting to know more about why we are going to New York and what the diagnosis and testing is & involves. So I've put this page together a minute to try and make a concise set of answers that you can read about and use to get to other pages to read a bit. Of course, call us if things aren't clear and you have other questions. If we have answers we'll pass them on. I'll be updating this site from the road too so when we start talking with doctors and getting test results we'll post it here.

So here's the deal. After 10 years of being diagnosed with Multiple Sclerosis, I saw a doctor over the last year the UCSF MS Center that decided that she doesn't think I have MS. My primary doesn't completely agree and there is still some question about where that stands. However, it got me doing some research and I see the MS Center doctor's point. She stopped seeing me as a patient when she decided that I don't have MS, no alternative diagnosis or anything (though she'd done a couple of tests which didn't turn up what she was looking for). She does feel that there is something wrong neurologically, as there are abnormal results to several tests, she just doesn't have an answer. Her suggestion is to be tested for SCAs (Spinal Cerebral Ataxias) but the genetics group doesn't feel like there is good enough documentation of ataxia.

Fast forward through a couple of months of me doing research on my own. I have Noonan's Syndrome which is a genetic mutation that I have know about since my mid-teens. I didn't really know anything about it and so it was one of the things I read up on in my researching where to go for information about what might be going on with me. Reading up on the auto-immune malfunctions and skeletal anomalies gave me a direction to look in regarding what I am experiencing. I joined an email list of people with Noonan's Syndrome (& parents of kids with Noonan's Syndrome). On there many people were talking about having/kids having a Chiari Malformation. I looked up the symptoms for it and was suprised at how it seemed to match my symptoms better than even the MS diagnosis ever has. A bit more research revealed that The Chiari Institute is really the best place to go for diagnosis and care. I started to gather up my MRIs and medical records to send them for review...more of just a rule out at that point...getting a professional opinion. In the process of gathering up my records I got the MRI & report from 1994 in Chicago that was done when I was diagnosed with MS. The report said I HAVE a tonsillar ectopia (associated with Chiari Malformations) and that I had no sign of MS related lesions and that the tonsillar ectopia bared watching. I called The Chiari Institute with that information and they changed from doing a records review to doing an actual appointment. This appointment will be on February 23 & 24 (2005). There's a calendar of our February/March trip here.

I'll update things here as possible while we're there. I can tell you that before I go I've been having several tests which include a
• Holter Monitor test (24 hours on a mobile Electrocardiogram machine while going about normal activities) to check for tachycardia (abnormal heart rhythm)
• Tilt Table Test (Another heart test...evaluates blood pressure and how the body responds to stresses) to check for syncope (fainting) & dizziness.
• Barium Swallow to evaluate dysphagia (swallowing difficulties).

These are all associated with Chiari Malformations and align with unexplained symptoms that I've experienced over the last 10 years. Once I get to New York I'll have several tests on the first day that we are there including a positional neck X-ray (to see more about how my vertebrae are shaped/aligned), CINE MRI (an MRI that will also track my cerebrospinal fluid flow), MRI of head, cervical, thoracic & lumbar spine (to get a complete picture of the entire area & check for any other malformations and anomalies...which could include things like syrinx, tethered cord, hydrocephalus & spina bifida occulta, & a 3D CT Scan (to get a clear picture of all of the bone shaping in my skull).

On the 24th we'll meet with the doctors at TCI to go over the tests and talk about what they feel is going on and what might be done about those things.

Right now all we know for sure is that this malformation does show up on my MRIs and that it wasn't looked into seriously by the neurologists I've seen mainly due to the fact that the field is still very specialized and making a lot of fast progress. Anecdotally I saw an ENT specialist recently regarding some ear things going on and he asked if I'd ever had an MRI to check for a Chiari Malformation and his reason for asking it was simply from observing me and my symptoms. I told him I was going to be seen at the Chiari Institute and he was glad to hear it. We're going to New York because they know the most about it and we won't screw around with more neurologists possibly not knowing what they need to know about it. A best case for REALLY ruling in/out the important issues that might make me feel better. If you've not gone over to the Chiari Malformation page I've created yet, I would suggest going there next.

I appreciate everyone's good energy through this. It is a lot of testing and stuff. The upshot is that if they do diagnose this the (knock on wood) absolutely best case scenario is that I could have surgery and get rid of all or most of my symptoms (including the need to use a wheelchair, the headaches, everything). In reality it will probably be a partial getting rid of symptoms, but we'll focus on hoping for the best. Oh, and we'll also be going to the Harvard Medical Center in Boston to be part of a Noonan's Syndrome study while we're out there.

And here is the link to what we found out while we were out here.