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    • #18104

      I was still trying to put into words and process my most recent neurology appointment. I went in for pain, swelling, and numbness under my eye, which I had been experiencing for a month. I had tried antibiotics and steroids and had a CT scan of my head and x-rays of my teeth. I went into this appointment with a different neurologist than I usually see, and he looked at me and said, “I’m not sure it’s FSHD. I don’t see it in your face.”

      I was shocked. Not only was I diagnosed at 12 with genetic testing, but to have this doctor question me, I was almost speechless. Then he looked in my eyes with a light, had me stick my tongue out, and asked a few questions before dismissing me and the reason I was there as “not something serious” and to come back in two months. I asked him if I should take so many pain relievers, and he said no, you don’t need to. So he would rather me be in pain?

      When I got home, I immediately canceled my next appointment, messages my doctor who wrote the referral asking for another referral to a different neurologist, and I began to write a letter about how much of a disappointment that appointment was for me.

      Has anyone ever dismissed your diagnosis?

    • #18105
      Gail Sullivan

        I can totally identify with the problem that you had with that neurologist. When I started my journey to find out what was wrong with me I was given five different diagnoses and each the role of just asked what my first symptom was and when I told them it was that I had the inability to stand on my toes I was told over and over but that was not a symptom of any MD. That went on for at least 10 to 15 years. And once I didn’t have the type of desperately they were receiving money to investigate I was dropped by each neurologist and had to start all over again. After about 20 years of going through this I read an article about indigenous group of people being tested for MD and their first symptom was they couldn’t stand on their toes. At that point it was like a lightbulb for me because I also have Inuit and indigenous native in my background. I called that neurologist and she was more than willing to take me on but we live too far apart so she found one near me and I stayed with him until I became bedridden but he believed my first symptom and he took the time to talk to me to examine me to ask all kinds of questions and then do my 20th or 21st biopsy and was able to diagnose me. I am in the medical profession and I can’t believe how people are being treated when they have a problem with MD. Over the years I discovered that it starts sometimes with the GP and it’s because they don’t know anything about muscular dystrophy except for Duchenne. When I finally moved back home and was bedridden again to change doctors and when he came to my house for my first visit he said he didn’t know anything about MDA especially my type but if I was willing to have him learn as I learned then he was glad to have me as a patient. I had him for 20 years until he retired. I’m sorry you had to go through that because I know how it feels but I hope that now you’re on the track to getting a good neurologist to help you.

        • #18138

          I appreciate you responding and sharing your experience. It is always nice to know that I am not alone in the things I go through, but I also wish more things would change, so it doesn’t happen to the next person!

          I might have to travel over two hours to find a “good” neuro, which is worth it to avoid feeling a certain way by ignorant people.

      • #18106
        Pete Barron

          Unfortunately doctors are just people, and people come in all sizes, shapes, and flavors! We need to ignore the idiots, be they docs or whatever. Find another doc who listens and is willing to prove himself wrong!

          • #18107
            Karl Evans

              Hi, Dani and Gail. What you have been through recently is what I have been through for 82, almost 83 years. To shorten the story, I have been dx by reputable labs and clinics across the USA as having several genetic and environmental disorders/ diseases, including LGMDr23, Gelsolin in Myeloma (a cancer), Parkinson’s, Lymphomas, Leukemias, encephaly, epilepsy, RA, Barrett’s, myelofibrosis, Cardiomyopathy. etc. At birth my doc said I was a “floppy baby” and would not live until my 3rd birthday. Since then i have had 54 cancer and other surgeries, therapies, etc, and have a couple more to undergo soon. Most of these have been done by Mayo, Andersen, Samaritan, Ambry Gen, Alnylam, Samaritan. However, I have been forced to use a certain PCP now, and he refuses to admit any possibility that I have any genetic issues. He says AI is all a fraud, and that the whole thing is a bait and switch thing done by the medical community. He will not even order a whole genome analysis with insurance coverage. Anyway, thanks for the opportunity to note that laziness comes in many forms, even in the medical community.

              • #18109
                Leah Leilani

                  Karl, I was a floppy baby as well and was hypotonic as a little one as well which was an early sign of MD for me. You must be so used to doctors telling you that your diagnoses are invalid. These days, I just expect it and when they invalidate me, I laugh in their face. I don’t think most PCP know much beyond rashes, pink eye and general blood work.

                • #18128

                  I find it so concerning that you are forced to use a PCP that doesn’t listen or order tests covered by insurance and deemed necessary. I hope you are allowed to use someone else because that isn’t right!

                • #18134
                  Gail Sullivan

                    I’m sorry you had to go through it for that long Carl. I thought my time is long but you beat me by at least 20 years. It’s totally frustrating when they won’t listen to you and disagree with the diagnosis that’s been done through DNA. I no longer have a neurologist so I’m pretty much on my own with this with help from my GP who admits she doesn’t know a lot about it but as willing to learn. Too bad specialists aren’t willing to learn with their patients.I have kept all of the pages from different neurologist telling me what I do not have after doing a biopsy and telling me that the inability to stand on my toes is not a symptom of MDA. If I was rude I’d send them the article I have saying that that was the first symptom of a whole group of people who ended up having my Miyoshi myopathy. Now there’s going to be a week in September about limb girdle MD under the various different numbers that have been given to it. However I don’t know where I fit into this because they changed the names and numbers so many times since I received my final diagnosis and since my neurologist has retired the only way I can find out is to go through it all over again. So that’s what I’m going to do because I have two children who are carriers and three grand children who could be carriers. Although my children went for genetic counselling I didn’t have a definite diagnosis by the time they had the children so they had no idea what to have their spouses tested for. We need to know if they’re carriers so when and if the time comes that they have a significant other they can be tested and if carriers they can make an informed decision regarding having children. Another part that really bothers me is we all keep getting told in my family that it’s an extremely rare MD and we shouldn’t worry about it being passed on because the chances are so slim. But every time I read an article the number of people diagnosed with MM no matter which number has increased in huge numbers. I hope you can get a Doctor Who will at least do the proper testing for you. You must be very frustrated because you as well seem to be starting over again. Please let me know how it works out for you because I’m very interested in what you find out and how you make out. I’m glad you wrote your experience down because I think it’s a very important one and will help other people who are having problems similar to ours. We might not have an answer for them but at least they don’t feel there alone in all of this.

                • #18127

                  Agreed! I hold them to a higher standard for the years and hundreds of thousands spent on their education, but you are right. They are still human!

              • #18108
                Leah Leilani

                  Medical gaslighting happens more than it should. I have been told so many times that what I was feeling wasn’t real, I was faking it for attention, or that the information I have received from my doctors that actually do understand me was wrong. I find that if a doctor doesn’t know something they usually won’t admit it but would rather blame things on the patient.

                • #18132
                  Leah Leilani

                    I was just gaslit the other day by my cardiologist. He has tried to get me to take a lower dose of my medication for a while now and I’ve tried but my heart can’t take do it and I’m already on a low dose. He still won’t listen to me so I’m switching cardiologists soon. He’s been wonderful to me in the past but now that my heart is acting healthier he thinks I should be able to be on a lower dose of medication.

                    • #18139

                      I honestly believe the patient knows more about themselves than the doctor, so they should most certainly consider what you’re feeling when making decisions. Decisions should be made together, not by one person.

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