Possible Ehlers-Danlos Syndrome with craniocervical instability

Posted by derrickbff @derrickbff, Sep 25, 2018

I’m sending my scans into the Rochester neurosurgery department with some papers regarding symptoms, measurements, etc. I guess I’m just trying to gauge my chances for being taken seriously with this. I’ve been seen by 25+ physicians for the same symptoms over 8 years to no avail. I’ve included the pictures shown here as well as others in the package. Symptoms: loss of balance and coordination, tinnitus, dysphagia, fatigue, formication, constipation and bloating, tremor in both hands, cold hands and feet, slurred speech, 82% oxygen via sleep apnea precursor test. I hope they don’t get upset as I’ve added some pictures of diagnostic procedures for measuring skull angles. I just can’t help myself after more or less being dismissed for 8 years. I took the measurements with the image with the red lines. Via the report from Barcelona neurosurgeon Vicenç Gilete the measurements are close. His measurements were 129 degrees neutral CXA (which is pathological) and Grabb-Oakes at 9.4mm which is also pathological.

@redhead63

Hi:
I saw my ear Doctor today and he ordered me an MRI of my Cervical for the 8th of October. I did not informed him about me going to the Mayo Clinic. This Doctor did my ear surgery he inserted a balloon into my right ear. I know for a fact that I have Advanced Arthritis in my Cervical and Subluxation in C2-C5 but he doesn’t know that. I was diagnosed with FND by Mayo even though I had the x-ray done at the Mayo. Not one Doctor at Mayo said anything about me having Advanced Arthritis and Subluxation. I hope I am doing the right thing. Once you are label for FND no Doctor wants to help you. That is the way it is. So that is why I am doing this way.
Thanks

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I completely understand as my 15 year old has battled this since 2-1-18. We've tried to get into Mayo and no such luck. They do have a PNES clinic but I don't know alot about it

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Hi @jcnel,

Since you mentioned PNES or Psychogenic Non-Epileptic Seizures, here are a few related discussions you and other members might like to read:

– Released from the hospital for "episodes". All tests clear. Confused https://connect.mayoclinic.org/discussion/i-was-recently-released-from-the-hospital-for-episodes-all-testing-came/
– Conversion disorder with pseudoseizures (PNES) https://connect.mayoclinic.org/discussion/well-i-hope-i-can-be-of-help-in-2009-i-had/
– Non-Epileptic Seizures or PNES https://connect.mayoclinic.org/discussion/non-epileptic-seizures-or-pnes/

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Paolo Bolognese, neurosurgeon in New York, has got a specialist interest in this area and is highly recommended for people with CCI and hypermobility.

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All these symptoms can be many things, do not get overly scared, talk only to a medical doctor. I have ehlers-danlos syndrome, was diagnosed when my primary, & radiologist could not figure out what was going on, this in Tucson Medical Hospital1997. I saw a specialist for EDS. I have the only one that is not genetic, there are many 14 kinds, changed from 97 when they refineries 7, but still the same. I am hypermobile where my joints sublex, (almost dislocate)knees, wrists, fingers, shoulder blade issues in past, left knee bad, orthopedic dr felt both knees. I have fallen a lot many broken bones between the ms, & eds I got the falls cornered! Over 75 falls around 18 years, plus more, been falling since 88. 2 double compound fractures both with rods put in, one from standing still. I know my body well. My skin is not loose, just joints are fragile.

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@jenniferhunter

Hello, Redhead. I know this has been frustrating, and I have been through a lot of that myself, but not at Mayo. Doctors try to let you keep hope, and if they were moving right toward an invasive procedure right from the start, that would be cause for concern. If someone told you that your future would be absolutely include spine surgery in 10 years, it would give you something to worry about. I spent 3 years worrying about this, and that caused a lot of anxiety which was affecting my health. I had to learn how to get past the panic attacks I was having because surgery was necessary for me if I didn't want to become disabled. Yes, they can overlook something and make mistakes, and they do have to connect the imaging with a structural problem before any surgeries are considered. Often a physical therapist can improve conditions a lot, and they can help assess where the problem is and relay that to the doctor in charge. You are right to be your own advocate. Often old records are not very helpful because what matters is what your condition is currently. It's easy to start thinking about yourself as a diagnosis, but those are just ways that are used to categorize the issues. As a patient, you do have a lot of power in your health, and if you believe you can improve, you'll increase your chances of that. If you believe that your condition will get worse and no one will help you will increase your chances of that.

I spent 3 years and was seen by 5 spine surgeons before I came to Mayo and all of them missed the diagnosis. I could see the ruptured disc and bone spurs compressing my spinal cord, and I was documenting the progression of my symptoms. My case had an unusual presentation of symptoms which is what confused the surgeons. Cervical stenosis can produce pain anywhere in your body. This was my experience. It was my own research that led me to Mayo because I had just been dismissed by a department head at a university medical center, and then I found medical literature with cases like mine, and none of my doctors would advocate for me and confront him. I didn't think he would listen to me. My dentist offered some advice and said that I wouldn't want someone who is not confident doing my surgery. He was right. I needed a doctor who was familiar and confident. I contacted a Mayo neurosurgeon with the literature, and I did have surgery at Mayo that fixed the issues.

Surgery is a very big step that you cannot undo. Surgery can make you better or worse, and no surgeon wants to make you worse. There can also be communication issues or personality conflicts that interfere with getting the diagnosis right. Surgeons are under a great deal of stress and they are human. I had to get 6 opinions before I had a good one. I had an advantage as I have a biology degree and I can understand a lot of medical literature and I was reading everything I could and watching presentations by and for spine surgeons online to learn more for a few years, and I discussed everything with my physical therapist.

Cervical spine problems do cause dizziness. That was my experience, and I had vertigo hit suddenly when I looked up at birds flying overhead while on my porch. I stopped immediately, but I could not stop myself from falling backward on my porch even though I had my hand on the rail. When I told the university dept head surgeon that this happened, and that my physical therapist had been able to correct it, he told me to stay with physical therapy and declined to offer surgery. What was happening was that the muscle spasms generated by the spine problem were rotating C1 & C2 causing horrible headaches, dizziness, and nausea. I also have thoracic outlet syndrome that makes one side of my neck tight, so it threw everything out of whack. When I came to Mayo, I talked about muscle spasms and headaches, not falling down because of dizziness. I also did not use correct medical terminology talking to the doctors even though I was able to describe my symptoms in medical terms. Doctors don't want patients to diagnose themselves and then tell them how to do their job. It is their job to diagnose, and your job as patient is to provide accurate information. I had to start over many times myself, but I brought the imaging with me to the next specialist who's opinion I sought. That does help and gives them a comparison on progression, but usually my doctors were not interested in old records and didn't have time to review them.

What matters is how you feel and not what the reports say. Some people have no pain from spine disc problems and as we age, the discs to dry out a bit and bulging is common. Focus on the symptoms and if things are functioning correctly. I learned a lot about heart disease watching my dad go through that, and he stressed about a lot of things and was talking himself into having heart problems. It's what he believed and it happened. He should have focused and what he could do to better his health with his choices. This is the reason that when I was having severe anxiety about surgery, I asked myself why was I doing this to myself? Then by beginning to answer that question, I was able to discover the clues that lead me to deprogram that fear. I enabled my choices and health by doing this.

I don't know if you have seen anyone recently for your spine. I hope my experience helps in some way. I certainly can give you more specifics about my Mayo neurosurgeon if you are interested. I think so highly of him that I will not go anywhere else if I need spine surgery again. It was a long journey to find him, and I've had a great recovery from surgery that was close to 2 years ago. I do have an issue with a bulging lumbar disc, and he told me the best way to prevent future surgery was to maintain core strength to support the spine. I'm doing that with exercise. When you find the doctor for you, join their team because everyone has an interest in your recovery.

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I would love to know the name of your recommend Mayo neurosurgeon, please! thanks!

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@jenniferhunter

Hello, Redhead. I know this has been frustrating, and I have been through a lot of that myself, but not at Mayo. Doctors try to let you keep hope, and if they were moving right toward an invasive procedure right from the start, that would be cause for concern. If someone told you that your future would be absolutely include spine surgery in 10 years, it would give you something to worry about. I spent 3 years worrying about this, and that caused a lot of anxiety which was affecting my health. I had to learn how to get past the panic attacks I was having because surgery was necessary for me if I didn't want to become disabled. Yes, they can overlook something and make mistakes, and they do have to connect the imaging with a structural problem before any surgeries are considered. Often a physical therapist can improve conditions a lot, and they can help assess where the problem is and relay that to the doctor in charge. You are right to be your own advocate. Often old records are not very helpful because what matters is what your condition is currently. It's easy to start thinking about yourself as a diagnosis, but those are just ways that are used to categorize the issues. As a patient, you do have a lot of power in your health, and if you believe you can improve, you'll increase your chances of that. If you believe that your condition will get worse and no one will help you will increase your chances of that.

I spent 3 years and was seen by 5 spine surgeons before I came to Mayo and all of them missed the diagnosis. I could see the ruptured disc and bone spurs compressing my spinal cord, and I was documenting the progression of my symptoms. My case had an unusual presentation of symptoms which is what confused the surgeons. Cervical stenosis can produce pain anywhere in your body. This was my experience. It was my own research that led me to Mayo because I had just been dismissed by a department head at a university medical center, and then I found medical literature with cases like mine, and none of my doctors would advocate for me and confront him. I didn't think he would listen to me. My dentist offered some advice and said that I wouldn't want someone who is not confident doing my surgery. He was right. I needed a doctor who was familiar and confident. I contacted a Mayo neurosurgeon with the literature, and I did have surgery at Mayo that fixed the issues.

Surgery is a very big step that you cannot undo. Surgery can make you better or worse, and no surgeon wants to make you worse. There can also be communication issues or personality conflicts that interfere with getting the diagnosis right. Surgeons are under a great deal of stress and they are human. I had to get 6 opinions before I had a good one. I had an advantage as I have a biology degree and I can understand a lot of medical literature and I was reading everything I could and watching presentations by and for spine surgeons online to learn more for a few years, and I discussed everything with my physical therapist.

Cervical spine problems do cause dizziness. That was my experience, and I had vertigo hit suddenly when I looked up at birds flying overhead while on my porch. I stopped immediately, but I could not stop myself from falling backward on my porch even though I had my hand on the rail. When I told the university dept head surgeon that this happened, and that my physical therapist had been able to correct it, he told me to stay with physical therapy and declined to offer surgery. What was happening was that the muscle spasms generated by the spine problem were rotating C1 & C2 causing horrible headaches, dizziness, and nausea. I also have thoracic outlet syndrome that makes one side of my neck tight, so it threw everything out of whack. When I came to Mayo, I talked about muscle spasms and headaches, not falling down because of dizziness. I also did not use correct medical terminology talking to the doctors even though I was able to describe my symptoms in medical terms. Doctors don't want patients to diagnose themselves and then tell them how to do their job. It is their job to diagnose, and your job as patient is to provide accurate information. I had to start over many times myself, but I brought the imaging with me to the next specialist who's opinion I sought. That does help and gives them a comparison on progression, but usually my doctors were not interested in old records and didn't have time to review them.

What matters is how you feel and not what the reports say. Some people have no pain from spine disc problems and as we age, the discs to dry out a bit and bulging is common. Focus on the symptoms and if things are functioning correctly. I learned a lot about heart disease watching my dad go through that, and he stressed about a lot of things and was talking himself into having heart problems. It's what he believed and it happened. He should have focused and what he could do to better his health with his choices. This is the reason that when I was having severe anxiety about surgery, I asked myself why was I doing this to myself? Then by beginning to answer that question, I was able to discover the clues that lead me to deprogram that fear. I enabled my choices and health by doing this.

I don't know if you have seen anyone recently for your spine. I hope my experience helps in some way. I certainly can give you more specifics about my Mayo neurosurgeon if you are interested. I think so highly of him that I will not go anywhere else if I need spine surgery again. It was a long journey to find him, and I've had a great recovery from surgery that was close to 2 years ago. I do have an issue with a bulging lumbar disc, and he told me the best way to prevent future surgery was to maintain core strength to support the spine. I'm doing that with exercise. When you find the doctor for you, join their team because everyone has an interest in your recovery.

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I need help. My face gets numb.
Cervical neck etc. what was the name of the dr. I’m not sure if I know how you answered just found this

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@12061948 In the post right before yours, I had posted a lot of links about Dr. Jeremy Fogelson who was my neurosurgeon at Mayo in Rochester for my spine surgery, so rather than repost all of the links again, it's already there. Have you been diagnosed with a spine problem? If you were to be seen at Mayo, they would ask for all your imaging like MRIs and Xrays for evaluation, and would have a neurologist in the spine center evaluate you and order pertinent testing, and after that you would see the neurosurgeon if you are a candidate for that. If you are going to contact Mayo, either call or contact them on the website, and they will set up a temporary patient account number in order to be able to recieve and organize the records you will send in. I had to do this to be accepted as a patient and have appointments scheduled. Here is Dr. Fogelson's profile. https://www.mayoclinic.org/biographies/fogelson-jeremy-l-m-d/bio-20055624

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All history leads to this diagnosis at the age of 78. What should I expect?

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@wittmack

All history leads to this diagnosis at the age of 78. What should I expect?

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Hi @wittmack, I moved your message to this discussion about Ehlers Danlos syndrome so that you can meet others members who have experience with EDS like, @redhead63 @jigglejaws94 @blossom2016 @derrickbff and @jenniferhunter, and can help answer your question of what to expect.

Wittmack, have you been diagnosed with EDS or is this being investigated as a possibility?

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