Undiagnosed Newbie Looking for Advice!

Hey all,

I've been lurking on this site for the past week now, and I finally bit the bullet and just joined. The support you provide each other is just amazing; it has given me hope!

Technically, I don't have a diagnosis - like everyone of you, my story is long and complicated. I'm a 20 y/o female from a small town in Canada who has been growing sicker and sicker as the years go by. Almost six years ago, I blew a pupil in my left eye and doctors panicked. I was sent for a ton of tests and my CT showed "something". They sent me for an MRI which came back as "low-lying cerebellum". My doctors waved it off and continued searching for an answer. After a harrowing process, I was diagnosed with the rare disorder of Adie's Tonic pupil even though I don't fit most of the criteria and I didn't respond to pilocarpine drops (which are supposed to constrict the pupil in Adie's patients).

Flash forward to today, and I've been going consistently downhill since then. I do have several other conditions that I've been diagnosed with since then, including Celiac Disease and Polycystic Ovarian Syndrome (PCOS). But each day I suffer from chronic, debilitating fatigue (I need at least 12 hours a day to get out of bed), spontaneous vertigo, dizziness, neck + ear pain and fogginess/lightheadness, like I'm constantly stoned and unable to function. Blurred vision comes and goes, bright lights kill me (understandable in my dilated pupil eye, but not my normal one), vision focus problems and eye floaters. I get this headache a few times a week that is mostly just pressure in the back of my head, and sometimes the pain shoots forward to my temples/eyes. I used to have a photographic memory, but now I've forgotten most of my childhood and I'll even forget the names of my best friends on occasion. I'm an english major and voracious reader that stumbles to find basic words when talking and sometimes stutters because my brain can no longer process the conversation. I've also got hand tremors when doing tasks, muscle spasms and progressing weakness in my left hand/arm. I've started dropping things and being unable to hold objects.

My doctors are convinced I'm crazy and/or it's just because I am obese - so much so, that I am now on a waiting list for gastric bypass out of desperation. Whatever is happening, it's destroying my life. I used to run full scale charity events and horse shows, but I had to drop out of all my activities and volunteer commitments. I used to ride 6x a week and I had to sell my horse. I have a part-time job and work 20 hours a week, but it's becoming harder and harder to go. I need the job to pay for university, which I can now only take part time and I still can't attend classes cause of the exhaustion/symptoms. My friends don't understand - I see them maybe once a week now because all I do is work and sleep. I joke that my boyfriend's name is TV, because I spend more time laying in bed watching tv/sleeping then I do in the real world nowadays.

I was googling and trying to self-doctor about my hand tremors getting worse when an article on MS mentioned the cerebellum. That's when I remembered my MRI from 6 years ago mentioned I had something wrong with the cerebellum and I found an article on Arnold-Chiari. I sat in my basement and cried because I felt like I finally found an answer. Course, I kept reading about the disease and became discouraged, but I'm going to remain hopeful until I have an answer.

Am I right to think that my noted "low-lying cerebellum" are a possible indicator that I have Chiari? Or am I way off base? Should these low-lying cerebellum have been investigated further when it was found 6 years ago? Could my pupil be a part of this?

If you read this entire novel, thank you - it felt good to get that out. I wasn't going to join this site until I had a diagnosis, but I have a doctor's appt on Monday and I want my doctor to order tests to look for Chiari. I'm just not sure what to ask for first. Should I start with a basic head MRI? C-spine? CINE flow study (I'm not sure if they would have that in my small town)?

Any advice or thoughts you guys can provide would be wonderful. You guys are truly amazing people...

Lissas, Welcome and you have to come to the right place for comfort & support. I am sorry to hear about your health and the trouble that you are having with your doctors? Have you seen a neurologist yet? Do you suffer headaches? There is a list of symptoms on this sire, I would print them out and take it with you to your doctor appt. I too have been misdiagnosed for years and found out it is chiari which is where there is a herniation of the tonsils below the Formen Magnum and I have been symptomatic my whole life. Be persistent ans insistent with your doctors. Please let me know what happens.
Hugs

If you don't get answers from you Neurologist, try a new doctor. Not all or many are familiar with Chiari. Search and find one from the net. They are out there. I am three and half weeks post op and am doing great. along with the Chiari surgery I had spinal surgery as well. I was terrified about the brain surgery and it turns out the spinal surgery is what is giving me a little problem. The doctor said the Chiari was much worse than he thought once he got in there. I found a specialist in another state. Dr. Heffez from the Chiari Institute of Milwaukee Wisconsin is great. He does an average of 2 Chiari surgeries a week. Don't stop until you find your answers. Love, Debi

Lissa,

First of all…Welcome to the group! I am so glad you decided to join. Everyone has given great advice. I’m glad your doctor ordered an MRI, but she sounds aweful. I would definitely start looking for a new primary doctor. You do not deserve to be treated that way! Making fun of your weight…seriously?! I have gained weight while dealing with all the pain and symptoms too. I just started a plan 12 days ago and I’ve already lost 15 pounds:) It feels good to have some control in my life right now. If you want more info, just let me know.

Sorry…I’ll get back on topic now…lol:) Like Twitch said, the herniation doesn’t have to be over 5mm to cause symptoms. I have a 4mm herniation with a syrinx and I have a lot of pain and symptoms. So, don’t let them tell you otherwise. I had a Neurosurgeon tell me that my herniation and syrinx were too small to cause me problems and he was very wrong. So, you should definitely find a specialist. You can find lists in some previous discussions or there is a link on our resources page too. You may need to travel a little bit to get to one, but it should be worth it. I’m traveling to the other side of my state to see a NS that is experienced with Chiari.

I hope you have better luck with your future doctors. At least, you are on the right track and getting the MRI. If you need to talk or vent, we’ll be here for you. I look forward to getting to know you better:)

Crystal