MG testing complicated by pre-existing conditions
Hello everybody
I just registered here today to ask for advice on testing for MG when there are pre-existing genetic conditions and autoimmune conditions with overlapping symptoms. I will try to make my health history as short as possible:
My mum's side of the family has a genetic connective tissue disorder that makes all soft tissues such as skin, blood vessels and muscles very fragile. Delayed motor development, hypotonia and strabismus are common as well, but are usually mild and non-progressive.
My dad's side of the family has very aggressive autoimmune diseases. Doctors don't even know what label to put on my dad, because he has antibodies for Lupus, R.A. and Sjögren Syndrome, plus a nasty case of psoriasis.
3) I inherited the genetic connective tissue disorder and have Hashimoto's Disease, which progressed to thyroid eye disease after I got the flu shot in my 20s. However, I was denied diagnosis because my antibody levels were negative for 8 years, leading to permanent eye muscle damage.
When I hit 30, my muscle strength declined rapidly and I had to give up dancing and figure skating. In 2017, a new junior doctor at my endocrinologist's office noticed my droopy eyelids and slurred, wheezy voice and ordered an ACHR antibody test which came back borderline (normal up to 0.44 nmol/l, I had exactly 0.44). So I was referred to a neurologist.
4 months later I finally saw one who ordered an EMG + sfEMG which came back normal. I did not have anti-MuSK antibodies. The EMG + sfEMG were repeated a year later and I was told this excludes a diagnosis of MG and was discharged. My symptoms were acknowledged in the discharge letter, but blamed on my genetic condition and thyroid eye disease.
My symptoms persisted at the same level until I got the Pfizer vaccine in May and all hell broke loose. I ended up in A&E (UK version of ER) 3 times, but they did not know what to do with me and sent me home as soon as my oxygen levels and heart rate allowed.
My cardiologist upped my tachycardia meds, which sorted the palpitations, but not the muscle weakness. I am completely exercise intolerant now and clutch the walls wheezing after every flight of stairs. I cry before I drag myself to work, have to lean my arms to keep myself upright and constantly have to sit down. I often fall into bed in my clothes and don't bother with dinner because I choke on it anyways.
I had been referred to a neurologist earlier this year for my hemiplegic migraines and had a video appointment in September (thanks, Covid). I mentioned the previous MG workup and the neurologist said he could run the tests again when I see him in person in a few months.
Last week I decided I didn't want to wait that long and went to a lab in my area that offered private blood tests. They could do ACHR antibodies, but not MuSK antibodies, but better than nothing. I am currently waiting for results which could take 3 weeks.
I would be very grateful for any help, advice or experiences you could share. I feel completely alone and I am scared, because doctors are conveniently blaming progressive symptoms on pre-existing conditions.
My brother had lupus and passed away from an infection after surgery. I have a wicked combination of several autoimmune diseases. Psoriasis, Hashimotos, CFS/ME (after Epstein Barr that didn’t go away) and now Myesthenia Gravis. I wanted to let you know I too have progressive symptoms. This last year it’s really taken off. Ptosis was my first symptom and I tested positive for ACHR. Having CFS for 25 years, It’s been very confusing to sort out what symptom belongs to what or if something else is aggravating the MG, especially the exhaustion and muscle pain. For months even with Pyridostigmine I had to tape my eye open. Since the first miracle of IVIG infusions in September of 2021, I no longer have the Ptosis or double vision at all. I’ve had 2 rounds of 5 and one round of 2 IVIG which last about a month or two. I’ve felt horrible muscular pain since 1996 and it worked a miracle for that too. My insurance will not pay unless I’m in crisis, which by the way isn’t always as easy to know you’re in.
So to sort this out for you, after the first round of IVIG the ptosis never came back. However the choking swallowing slurred speech always return as well as super weak muscles. I completely lost my voice for over a month. I choke on water. They did swallow tests and throat exams and I kept saying I really think it’s MG. After one infusion of IVIG my voice was starting to come back and after two it was completely normal. Sometimes your neurologist is learning too, we are all different with ‘like symptoms’. But because waiting for a crisis to be admitted to get what works for me isn’t ideal, I am now waiting for my appt for Vyvgart which is approved by my insurance and hope to have that in the next two weeks. I take Pyridostigmine 60mg 3 times a day plus a night time slow release so I don’t wake up choking. I am allergic to prednisone, and test positive for BRACA gene so I won’t do cellcept. I will check back and write about the Vyvgart. experience.
So yes, I have many overlapping symptoms of other autoimmune diseases. The order of which they happened is Psoriasis age 8, Hashimotos age 25, CFS age 39, and Myesthenia Gravis, age 63. I just want you to know it can be very lonely. Loss of friends people not understanding, work issues, can be very difficult. But you are not alone in these fights. As sad as it is to say, I hope with the Covid ‘long haulers’ our Heath systems finally acknowledge and consider the rare autoimmune diseases and Post Viral syndromes first in their diagnosis’s and recognize we need compassion as well as treatment. Good luck. Rest when you have to, sincerely Patrice N.
Another reply, to add to the thoughtful comments above. Because MG is so rare and complicated, some providers can be distracted by more common pre-existing conditions. In my hubby's case, he had experienced throat cancer so his swallowing problems were written off to that. It took a more confident specialist to realize the answer was " both" the neuropathy from the cancer treatment and the myasthenia gravis. Juliana (myasthenia-gravis.com team).
This is a late reply; sorry! But it might help someone and reinforce what others have written. When my husband encountered severe swallowing issues and aspiration pneumonia, the hospital physicians immediately attributed it to the side effects radiation therapy 14 years earlier. They were so convinced that they had their answer, that they wouldn't look farther. It took a long time to convince them about "seronegative" MG--and the help of an amazing neuromuscular specialists. I would not insist "the patient is always right" but I would tell both patients and advocates to trust your instincts. Don't give up. When the correct diagnosis was made, Gary began a slow but steady path to recovery. Juliana (Myasthenia-gravis.com team).
Hi Sugarplum! Welcome to the community. I'm so sorry to hear of your troubles. I was diagnosed 27 years ago, but have had a few doctors question the diagnosis. It is unbelievably frustrating and can be very frightening. My best advice is to try to find a local support group (I don't know what is available in the UK) and ask other Myasthenics about Neurologists specializing in MG. You might have to travel to find someone good. My tests have all come back negative (other than the tensilon test, which I believe is no longer being used). My most recent Neurologist believes that I am MuSK positive, but we will never be able to test for that as I would have to stop treatment for the test to show positive and that isn't safe in my case.
I wish you well and hope you can find a doctor who can help you. It is not unheard of for MG to be a diagnosis which cannot be confirmed. Please take rests as needed and try to do things that make you feel good about you- I like to read a book or use an adult coloring book when I feel frustrated. All the best wishes for you! Claire (myasthenia-gravis.com Team Member)
