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Hi, My name is Michelle Keogh and I was just diagnosed in July 2021
Hello everyone. I have been on a journey for a few years with symptoms that couldn’t be explained. About 3 years ago I started having weakness in my upper legs. I also had jaw issues (TMJ type), hip issues, shoulder issues and a torn rotator cuff. I started with ptosis in 2017. The eyelid drooping continued until it needed to be surgically repaired in May 2021. I also have an issue with the left eye more than the right. It seems like it just wants to close when fatigued. I notice a “weakness” or unsteadiness on my feet. The fatigue has been tough to deal with this past year. I notice that I rest a lot more and need more breaks between activities. I really thought I had MS. As part of a pre-surgical testing for the ptosis surgery, I was sent to an opthamology neurologist who did genetic testing. I was told in April that I had OPMD. In June I consulted with a neuromuscular specialist in neurology and was told that I do not have OPMD but am a genetic carrier for it and that I either had MG or LEMS. Bloodwork ruled out MG. My EMG test was a “textbook example” of a LEMS patient according to the specialist. I should be starting Firdapse soon. It is going to be delivered tomorrow. My bloodwork does not show any antibodies present for LEMS. I decided to do a virtual second opinion with the Cleveland Clinic and am awaiting the results. I made a few appointments with Cornell Weill and Columbia in Manhattan to get an “in person” confirmation that it is in fact LEMS. After a misdiagnoses in April I feel like I need confirmation before I accept this. I am worried about starting the firdapse. Is it considered an immunosuppression drug? I am a kindergarten teacher and will be working during the continued Covid pandemic. I appreciate being included in this group and am finding all of the information presented very helpful. It has been a scary 7 months of going from neurologist to rheumotologist to neuromuscular specialists. Getting 2 different diagnoses of rare diseases has been really unbelievable.
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1 Reply
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@michellekeogh thanks for telling us your story so far.
On Firdapse, to learn more about it go to Firdapse.com. The key when starting out is titration. Work with your neuro to get to a dose routine that works for you. The maximum single dose is 20 MG, and the maximum daily total is 80 MG. Many of us take a dose at 4 hour intervals. This adds up to 4 times a day. To better understand titration, see that web page just referenced.
Getting the diagnosis can be difficult. Let us know when you are diagnosed. Presenting with hip weakness first is classic LEMS.
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