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derrickbff
@derrickbff

Posts: 6
Joined: Sep 25, 2018

Possible Ehlers-Danlos Syndrome with craniocervical instability

Posted by @derrickbff, Tue, Sep 25 1:18am

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.

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Hi @derrickbff, welcome to Connect where you can meet other patients talking about Ehlers-Danlos Syndrome like @kariulrich @jigglejaws94 @blossom2016

Derrickbff, have you been diagnosed with EDS? Or is this what you are trying to get confirmed? Do you know what type you have or suspect to have?
https://rarediseases.info.nih.gov/diseases/6322/ehlers-danlos-syndromes

@colleenyoung

Hi @derrickbff, welcome to Connect where you can meet other patients talking about Ehlers-Danlos Syndrome like @kariulrich @jigglejaws94 @blossom2016

Derrickbff, have you been diagnosed with EDS? Or is this what you are trying to get confirmed? Do you know what type you have or suspect to have?
https://rarediseases.info.nih.gov/diseases/6322/ehlers-danlos-syndromes

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An Ehlers-Danlos diagnosis really isn't as important to me right now as getting my neck fixed due to the possible EDS. I tried to get genetic testing but due to only having hyper-elastic skin and no dislocating joints (other than thumbs) I was denied, Locally that is. Though she, (the rhuemotologist), didn't notice any hypermobility, my last MRI report stated that my c2 facets were significantly exposed in right/left rotation. It then stated in the next sentence that "this may represent hypermobility" . I'm actually trying to get craniocervical instability diagnosed because that's what would be causing my symptoms for the most part. Then hopefully I can get an odontoidectomy to reduce the retroflexion of the c2 vertebra as well as fusion for the unstable area. The report I got from Vicenç Gilete, a Neurosurgeon from Spain who deals with Chiari malformations and Ehlers-Danlos complications, is the only doctor who agrees that this is most likely what I have. I included his report in the package I sent. His measurements of my skull angles were pathological and indicative of brainstem compression. An Ehlers-Danlos diagnosis would be nice but that's at the bottom of the to-do list. Though it would be good to get vascular EDS tested for because it's dangerous. Do you think they will be upset that I added measurement tools with pictures to the package? I only do this because, like I said in the first post, I've been dismissed as a psychiatric patient for the last 8 years. How does loss of balance and dysphagia/globus sensation stem from depression…?

Hi:
I wish you all the luck in the world. I have a severe balance problem too. I have been to the Mayo Clinic in Rochester in MN. I was told that I have Functional Neurological Disorder which is not true. I also have EDS with problems with my cervical. I had an X-Ray of my Cervical at the Mayo and I was never told that I have Sublaxation in my Cervical. Please keep me informed with your condition. I just did not have any luck at Mayo. I hope you will have better luck.

@redhead63

Hi:
I wish you all the luck in the world. I have a severe balance problem too. I have been to the Mayo Clinic in Rochester in MN. I was told that I have Functional Neurological Disorder which is not true. I also have EDS with problems with my cervical. I had an X-Ray of my Cervical at the Mayo and I was never told that I have Sublaxation in my Cervical. Please keep me informed with your condition. I just did not have any luck at Mayo. I hope you will have better luck.

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I've done all the work that doctors should have done. I've given them everything they need to diagnose. I hope they believe the neurosurgeon in Barcelona and not think that he's just some quacky doctor and I'm just getting scammed by him. Unfortunately I think this is the popular opinion among the doctors I've told about him. The report states that he thinks I have CCI and AAI. He also put the pathological CXA's and Grabb-Oakes measurements in the report which I sent. I also attached the actual images of how to do this measurement which they should know about. If this doesn't work I'm basically just going to ask God to kill me every night in my sleep. Uniformed doctors… Did you have any reports or anything done before going to Mayo or did you count on them to diagnose you? I don't mean that in an offensive way I just know from experience that doctors know very little to nothing about EDS. Other than your more flexible and/or have hyperflexible skin. If this works out for me then I'll recommend you to get an upright flexion/extension MRI and an upright rotation MRI. The doctor in Barcelona charges 250 usd for a basic evaluation. That's how I got my "report". The difference with him is that he's informed about the craniocervical deformities of Ehlers-Danlos patients. If you can afford it I would say get the 250 evaluation so he "knows" your case somewhat. Then you can go over there and get the surgery you need.

I know it is very hard to be doctor-searching, but I wanted to prepare you- Mayo neurologists often refuse to order upright MRIs for EDS w/ possible CCI. They say uprights are unnecessary and give poor results. Mayo may not a good choice for neurology for those with Ehlers-Danlos, from what I've heard. Or in general for those with Ehlers-Danlos Syndrome. Across the board the doctors aren't even familiar with some basic current research. Please don't hold out any one doctor as your last hope, things are changing fast in EDS research. Wishing you the best-

@mayo8

I know it is very hard to be doctor-searching, but I wanted to prepare you- Mayo neurologists often refuse to order upright MRIs for EDS w/ possible CCI. They say uprights are unnecessary and give poor results. Mayo may not a good choice for neurology for those with Ehlers-Danlos, from what I've heard. Or in general for those with Ehlers-Danlos Syndrome. Across the board the doctors aren't even familiar with some basic current research. Please don't hold out any one doctor as your last hope, things are changing fast in EDS research. Wishing you the best-

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Well I actually sent it to Neurosurgery or so I hope. I don't know if they're both equally uniformed departments on EDS. I actually sent the scans of the upright MRI scans I had done here with Dr. Gilete's report with his measurements (which are pathological). I also stated that I took the measurements on the above image before he evaluated me. I then said that the measurements I took and the measurements he took were only off .7-1 mm/degree, (which they were), to try to avoid eye-rolling about a patient taking measurements by his or herself. All they will have to do be informed on pathological skull angles and know that the doctor in Spain is legitimate. After that I see no reason other than incompetence and/or arrogance to refuse me treatment for this.The only option after this would be to fly to Spain to get my CXA normalized by Dr. Gilete. I would need someone to go with me though, that's the hard part. I'm so confused and have Avoidant personality disorder so it's a double-whammy. I'm completely fine with paying a medical bill for the rest of my life I just want to live instead of being afflicted and miserable because I don't have cognition anymore.

@mayo8

I know it is very hard to be doctor-searching, but I wanted to prepare you- Mayo neurologists often refuse to order upright MRIs for EDS w/ possible CCI. They say uprights are unnecessary and give poor results. Mayo may not a good choice for neurology for those with Ehlers-Danlos, from what I've heard. Or in general for those with Ehlers-Danlos Syndrome. Across the board the doctors aren't even familiar with some basic current research. Please don't hold out any one doctor as your last hope, things are changing fast in EDS research. Wishing you the best-

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Hi:
I am not impressed with Mayo at all I went there for a balance problem and they told me that I have Functional Neurological Disorder which I do not have. I found out that I have severe arthritis in my spine plus I have subluxation in C2-C5 which nobody at Mayo told me. Plus I saw PA’s and DO’s so to me I felt that I was not taken seriously because I have a complex situation and they diagnosed me before all the test were completed. They suck

@derrickbff

Well I actually sent it to Neurosurgery or so I hope. I don't know if they're both equally uniformed departments on EDS. I actually sent the scans of the upright MRI scans I had done here with Dr. Gilete's report with his measurements (which are pathological). I also stated that I took the measurements on the above image before he evaluated me. I then said that the measurements I took and the measurements he took were only off .7-1 mm/degree, (which they were), to try to avoid eye-rolling about a patient taking measurements by his or herself. All they will have to do be informed on pathological skull angles and know that the doctor in Spain is legitimate. After that I see no reason other than incompetence and/or arrogance to refuse me treatment for this.The only option after this would be to fly to Spain to get my CXA normalized by Dr. Gilete. I would need someone to go with me though, that's the hard part. I'm so confused and have Avoidant personality disorder so it's a double-whammy. I'm completely fine with paying a medical bill for the rest of my life I just want to live instead of being afflicted and miserable because I don't have cognition anymore.

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Hi:
Do you live in the States? I do. I have no idea what to do. I am so freken tired of going to Doctors. I had 3 tubes inserted into my right ear and no Doctor can tell me why I had failed tubes. I did have a Balloon inserted into my ear canal about a year ago but there is something wrong with that ear. This has been going on since 2013. I cannot imagine them trying to figure out why I have this balance problem and they keep telling me it is not related to my ear, or brain. It’s my freken Spine and now I have to convince some Doctor that. It will take me years to do that. Have any ideas?
Thanks
Debbie

@redhead63

Hi:
Do you live in the States? I do. I have no idea what to do. I am so freken tired of going to Doctors. I had 3 tubes inserted into my right ear and no Doctor can tell me why I had failed tubes. I did have a Balloon inserted into my ear canal about a year ago but there is something wrong with that ear. This has been going on since 2013. I cannot imagine them trying to figure out why I have this balance problem and they keep telling me it is not related to my ear, or brain. It’s my freken Spine and now I have to convince some Doctor that. It will take me years to do that. Have any ideas?
Thanks
Debbie

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Well ear problems can cause balance problems. Any issues with the spinal cord or cerebellum can also cause balance problems. You would have to post an image of your cervical spine or the whole spine if you have one. If you have a copy of your images just insert the CD into the computer and run it in MicroDICOM. It's a free DICOM viewer you can download online. Once installed open it and to the top left there will be a CD image. Click this to open the CD. Once you have the right image hit print screen on the keyboard and paste it into paint and save it. Then you can upload the image here. If you don't have your scans you can ask whoever done them for a copy on CD-ROM. You can Private message the image to me if you want but the only knowledge I have regarding the spine is about Grabb-Oakes and CXA measurements.

@derrickbff

Well ear problems can cause balance problems. Any issues with the spinal cord or cerebellum can also cause balance problems. You would have to post an image of your cervical spine or the whole spine if you have one. If you have a copy of your images just insert the CD into the computer and run it in MicroDICOM. It's a free DICOM viewer you can download online. Once installed open it and to the top left there will be a CD image. Click this to open the CD. Once you have the right image hit print screen on the keyboard and paste it into paint and save it. Then you can upload the image here. If you don't have your scans you can ask whoever done them for a copy on CD-ROM. You can Private message the image to me if you want but the only knowledge I have regarding the spine is about Grabb-Oakes and CXA measurements.

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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

@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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What is FND?

@29821

What is FND?

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Basically means it's all in your head.

@29821

What is FND?

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Hi @29821,

Functional neurological disorder (FND) is listed on the National Organization for Rare disorders as a medical condition in which there is a problem with the functioning of the nervous system and how the brain and body sends and/or receives signals. FND is a common cause of disability and distress, due to chronic pain and fatigue, limb weakness, seizures.

Often, FND co-exists with other illnesses – it can have similar symptoms to most types of condition seen in neurology such as multiple sclerosis, stroke and epilepsy. Some patients have both a neurological disease diagnosis such as stroke and FND. A neurologist will usually conduct tests such as
-MRI brain scans, X-rays, functional brain scans (fMRI) to identify whether symptoms are related to brain injuries or abnormalities.
-EEG (electroencephalogram) scans which can track brain waves, allowing doctors to detect problems associated with the brain's electrical activity, such as epilepsy.
https://rarediseases.org/rare-diseases/fnd/

As with any chronic illness, it is important that patients diagnosed with FND fully understand their diagnosis. Also, due to the size and complexity of this condition, the number of specialist nurses and allied health professionals dedicated to this condition has grown significantly.
Hope this helps.

Hi:
I now know for a fact that my problems are in my neck and Cervical. I was at the Mayo Clinic back in 2011 for severe chest pain and at that time I had X-Rays of my spine. I located my reports from the Mayo Clinic regarding my Spine X-Rays and the report says: Dengenerative arthritis cervical facet joints. Narrowed C3-C6 interspaces. Low grade retrolisthesis of C4 on C5. There is more too long to write. No mention of Subluxation for the 2011 report. The Subluxation is on the 2018 report now. So I am assuming that my condition is getting worse. Why Mayo did not tell me that I needed to have an Orthopedic for my future. Or even recommended one for me there. Also why didn’t one of those Doctors at the Mayo look at all of my records from my visit of 2011, it’s right in my record that I have spine problems and they took X-Rays of my Cervical in 2018, all they had to do is look at my results before Diagnosed me with Functional Neurological Disorder. Is it because they are lazy or is it because I am a woman? I do have male friends that go to the Mayo and they get excellent care in the Neurology Department. Back in 2011 the Mayo Clinic misdiagnosed me and told me that I had nothing wrong with my heart. Well I went to the Cleveland Clinic and I was diagnosed with a heart problem. My staggering and lightheadedness is all related to my spine and I just have a hard time understanding why I have to be the one to figure this out when all the information is in my record. The sad part is now I have to lie/not tell the whole story to my Ear Specialist because of the diagnosis that was given to me by the Mayo Clinic. It’s like starting over.

@redhead63

Hi:
I now know for a fact that my problems are in my neck and Cervical. I was at the Mayo Clinic back in 2011 for severe chest pain and at that time I had X-Rays of my spine. I located my reports from the Mayo Clinic regarding my Spine X-Rays and the report says: Dengenerative arthritis cervical facet joints. Narrowed C3-C6 interspaces. Low grade retrolisthesis of C4 on C5. There is more too long to write. No mention of Subluxation for the 2011 report. The Subluxation is on the 2018 report now. So I am assuming that my condition is getting worse. Why Mayo did not tell me that I needed to have an Orthopedic for my future. Or even recommended one for me there. Also why didn’t one of those Doctors at the Mayo look at all of my records from my visit of 2011, it’s right in my record that I have spine problems and they took X-Rays of my Cervical in 2018, all they had to do is look at my results before Diagnosed me with Functional Neurological Disorder. Is it because they are lazy or is it because I am a woman? I do have male friends that go to the Mayo and they get excellent care in the Neurology Department. Back in 2011 the Mayo Clinic misdiagnosed me and told me that I had nothing wrong with my heart. Well I went to the Cleveland Clinic and I was diagnosed with a heart problem. My staggering and lightheadedness is all related to my spine and I just have a hard time understanding why I have to be the one to figure this out when all the information is in my record. The sad part is now I have to lie/not tell the whole story to my Ear Specialist because of the diagnosis that was given to me by the Mayo Clinic. It’s like starting over.

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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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