Possible Ehlers-Danlos Syndrome with craniocervical instability

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.

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

Hello. Painsomnia here. I've been denied several times, whether to Clinical Genomics, or to General Internal Medicine, with zero explanation, or appeal rights. I've had the worst few years, struggling on my own, to make it to work or appointments, due to the combination of severe hypermobility and chronic widespread instability, (possibly more than one type of EDS), Scoliosis, systemic Lupus, Sjogren's, ME, Hashimoto's, and thensome. My thyroid stopped responding to the meds several years ago, no one in the cities can make sense of it. It affects Everything, worsens Sjogren's, in turn creates major sinus, dental and GI issues, and it can even worsen muscle weakness, which in turn increases the instability and subluxations, it's all So interrelated. All other providers refer to Mayo for genetics, for EDS, since their own providers will not evaluate adults anymore. Or for mast cell. But I'm getting denied every which way now, for any of my plethora of complex conditions, even with an extensive family history of rare disorders. It worsens the ptsd, and makes one wonder, is this also a women's rights issue?

Hi @zebraspoonie, welcome to the community. I moved your message to this discussion about Ehlers Danlos syndrome so that you can meet others members like, @redhead63 @jigglejaws94 @blossom2016 @derrickbff and @jenniferhunter, who also sought a possible Ehlers-Danlos Syndrome diagnosis.

I’m sorry to hear that you have not been able to find a specialist to confirm a diagnosis. It sounds like you’ve taken the appropriate steps to seek care at Mayo Clinic. in some departments, like General Internal Medicine, demand for services exceeds our ability to see all the patients. You may consider asking your doctor to submit a referral for you, possibly to a different, but related department.

Have you seen a rheumatologist for the autoimmune diseases you've mentioned?

Hello. Yes, thanks, and I'm familiar with many others that have gotten the same generic denial letters in recent years too. I've been dx with some things since my teens, but things are vastly worse now, was denied even when the U of MN tried referring me a couple years ago. Someone from patient experience is supposed to be looking into this, but it's just absurd that for years, other clinics have refused to consult with us for a genetic condition that I would never in a million years want to pass on, and is by far the most debilitating out of every disability I have. Yet no one will even validate it. I already deal with discrimination in the workplace, it shouldn't be this way in seeking proper treatment and respect in healthcare either.

@zebraspoonie, greetings to you. I am very sorry for the medical issues you are experiencing. And I know how disappointing it is to be told that right now, Mayo is unable to admit you for treatment. You might think that being a Connect mentor, having a caregiving role with a patient, and promoting Mayo Connect publicly might have swung the dial in my favor. It didn't and given what I know now it shouldn't have.

Within neuropathy as a group of conditions, there is actually no cure. It is even difficult to get a spot-on diagnosis. As the pain of small fiber neuropathy (SFN) spreads to tissues, muscles, and bones, it just means that nerves in those areas are giving up the ghost long before I, at least, am ready to do so. So what does Mayo say to me every time I apply? "Truthfully, everything that can be done for you is being done by other institutions and clinicians." Mayo cannot add anything to my regimen that will be of benefit.

I look at it this way. Mayo has verified by the rejection of my application that I am receiving good treatment elsewhere. And most importantly, that leaves a space for someone else who can be helped and whose life can be improved by the world-class care available at Mayo.

May you be free of suffering and the causes of suffering.
Chris

Hi @zebraspoonie, welcome to the community. I moved your message to this discussion about Ehlers Danlos syndrome so that you can meet others members like, @redhead63 @jigglejaws94 @blossom2016 @derrickbff and @jenniferhunter, who also sought a possible Ehlers-Danlos Syndrome diagnosis.

I’m sorry to hear that you have not been able to find a specialist to confirm a diagnosis. It sounds like you’ve taken the appropriate steps to seek care at Mayo Clinic. in some departments, like General Internal Medicine, demand for services exceeds our ability to see all the patients. You may consider asking your doctor to submit a referral for you, possibly to a different, but related department.

Have you seen a rheumatologist for the autoimmune diseases you've mentioned?