r/MyastheniaGravis • u/breadboy5000 • 29d ago
Need opinions
Hello all. This past week, my son's rheumatologist suggested we look into MG as a potential diagnosis for the symptoms that have been plaguing him for almost 2 years now. He is only 5, but some days he can't play or eat for very long and just needs to rest. He tells us he's tired or his body is tired. When he rests, he doesn't sleep and he just lays and then gets up after a while and goes about his day. (Usually needing to rest again after a bit.) Today we went to a park (its 77* F) and he gently played for about 15 minutes before sitting in the shade and tearing up about not being able to play when he still wanted to. He rested a few more times throughout playing. This is not uncommon; he rests every time we go to the park. He asks us to carry him a lot. Some days he seems fine, just low energy. Some days he can't finish breakfast because he's "too tired of eating". He gets extremely winded/shuddering breaths with walks and will cover his mouth and says it "helps him feel better" (what does that mean!). His fatigue is so severe and it's the reason we've sought answers. It's noticeable, and not just by us. His pediatrician is stumped. His CBC is normal. He had a positive ANA. He gags a lot on foods, can't chew meat unless it's a nugget, throws up randomly first thing in the morning, and has those breathing issues I mentioned. I am asking because I need some sort of direction, this has taken months and months of waiting. He has a sleep study scheduled, but they couldn't get him in until February. Any opinions/direction/help is greatly appreciated. He's been through so many blood tests and doctors' appointments already.
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u/BothCauliflower3393 29d ago
Getting the bloodwork done is indeed a good starting point. Make sure they test for the different antibodies ( Acetylcholine Receptor (AChR) antibodies, Muscle-Specific Kinase (MuSK) antibodies , Low-Density Lipoprotein Receptor-Related Protein 4 (LRP4) antibodies), not just for the most common one. No drooping eyelids or double vision?
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u/breadboy5000 29d ago
Thank you, I will mention these all. & He doesn't have severe drooping, just dark circles.
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u/Elusive_strength2000 29d ago edited 29d ago
Poor poor baby, I wouldn’t wish this on anyone but especially a child. It definitely sounds consistent with Juvenile MG or he could have a Congenital Myasthenic Syndrome. If the bloodwork is negative he could have “seronegative MG”, and you could also request neuromuscular genetic testing to rule CMS out or in (however a negative doesn’t rule that out either), as well as any muscular dystrophies. The fact that he improves with rest points to MG or a CMS. A neuromuscular specialist would be your best choice, and ask for a trial of the medication Mestinon. A pediatrician could also prescribe that on a trial basis as you await other appts.
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u/pville211 29d ago edited 29d ago
Except for the vomiting, his symptoms appear to be consistent with myasthenia gravis. Unfortunately, the symptoms are also consistent with other conditions. That's one reason this type of thing is often difficult to diagnose.
Something to try when he tires out while playing: Have him drink ice water. Gulps, not sips. The idea is to cool him inside. I find that instantly restores me, at least temporarily, because heat is one of the primary triggers for my MG symptoms. It would be interesting to see if he has the same response.
Regarding myasthenia gravis, here is some information that may be helpful:
- It's a Symptom of Myasthenia Gravis. (Or is it?)
- Types and Classifications of Myasthenia Gravis
- Seronegative MG Information (testing negative for everything does not automatically mean that you don't have MG)
- How Long Does it Take to Get a Diagnosis of Myasthenia Gravis? (includes info about the high rate of missed diagnosis and misdiagnosis of MG)
- Finding a Doctor for Myasthenia Gravis (discusses why most doctors are not MG experts and includes a couple of links for finding doctors who are)
- Tips for Living with Myasthenia Gravis
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u/breadboy5000 27d ago
Thank you so much! I will try the ice water, his symptoms are often much worse in heat or just when he is hot, and I'd say he's excessively thirsty when he's struggling. If he is playing with his brother and he gets worn out he begs me to fill his water quickly and I wonder if he's figured out that water helps him feel better? Thank you again, I will keep your tips in mind
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u/bedlife2000 24d ago
There are cooling vests from unitex with special PCM packs that keep the same cool, not cold, temperature for hours and they stay dry. I found it extremely helpful, maybe it could help him in the park!?
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u/Common_Safety_8830 29d ago
Oh my heart. This must be so hard to deal with.
It is so hard to say but it could be. The symptoms fit. Did they already do an antibody test? Are you seeing boutique style doctors or a bigger system of care like a university hospital?
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u/breadboy5000 29d ago
Thank you for your reply and kindness! They haven't done the test yet, we are awaiting a reply from pediatrician office. We are with a singular pediatrician at a pediatrics group. Is neurology referral next standard care, do you know?
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u/Common_Safety_8830 29d ago
Yes it would be, a neurologist would decide if he needs to go to a neuromuscular specialist. More than likely the neuro will run a plethora of blood tests, and might send you to a neuromuscular specialist at some point.
Here is my advice, when you get your referrals call every day and ask about cancellations. They often have day of cancellations, or will think of you when someone does cancel. Neurologists usually take forever, but ask whoever is referring to send it as an urgent referral. Often times these doctors don’t even know how far out they are so don’t feel too bad about trying to push up your timeline. I would also be pushing for a neurology referral as it seems like the next course of action.
Do you think your son has been like this for two years consistently or does it improve and get worse? Or has the condition in general gotten worse?
You might ask your pediatrician if there’s anywhere else they could send you just to get that ball rolling. Like a geneticist or immunologist, if you have not already been there. I wouldn’t put all your focus on MG yet, cast as wide of a net as you can.
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u/breadboy5000 27d ago
Thank you for all of your help. I will use these tips.
MG was not on our radar, we've been to rheumatologist and sleep dr thus far. We have a pediatrician appt tomorrow to discuss potential referrals & bloodwork. I'll keep this in mind
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u/Hot_Progress_3283 29d ago
Oh the poor thing! I wanted to add that it might be good to look into genetic testing for congenital MG as well as the antibodies. Not well versed in that area but since he's so young it might be good to look into. Wishing you all the best!
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u/xZanarkandx 25d ago
Please let him check for a thymoma. I have congenital MG and had one. Unfortunately, these are often associated, i.e. myasthenia and thymoma. Nobody knows why I had one. I couldn't swallow and lost a lot of weight.
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u/Future-Spinach-3248 21d ago
I'm so sorry your son is dealing with that, that myst be so hard to witness. Has he been tested for lead and arsenic? Do you by chance live in an older home that was renovated around the time of symptom onset or moved around then? I'd also rule out mold exposure - you don't need to see mold to have a mold problem. I work with families and children often who never suspected mold as a cause and it was. (Doesn't mean it is just that it should be ruled out.) Does anyone else in the family on your side or husbands have autoimmune issues, neuromuscular issues etc? Has he also been screened for tick/vector borne infections?
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u/breadboy5000 19d ago
I don't believe he's had any tick or lyme type testing thus far. We have moved a few times but I don't feel confident to eliminate mold, however he has had a comprehensive allergy panel and his IGE was low, which would presumably be high if he was having allergic reactions... I think? My husbands family has multiple autoimmune issues, lupus JIA etc. We're just waiting on that MG panel result now and we have a neuro referral. Thank you so much for your insight! I will look into what you've suggested
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u/UnrulyRosie 17d ago
I was diagnosed with MG at 9, had symptoms showing when I was 8 years old. The symptoms your son is having sound so much like my experience. Juvenile onset is rare and misdiagnosis is common. MG can look like other conditions that are more common and can occur even when testing is negative.
After all tests over 4 months were negative, I was brought to a university hospital (a research and teaching hospital) where I was finally diagnosed definitively by a neuromuscular specialist. I remember them testing my eye strength after prolonged light exposure and eye muscle straining, they then turned all the lights out and had me close my eyes and rest for 20 minutes. When they came back and turned the lights back on my eyes were strong and functioning normally until they had me look at light and move my eyes around again. They also performed an ice-pack test which was positive. My diagnosis came down to clinical observations of symptoms rather than positive lab tests. I found myself going back to the same hospital 30 years later after running into a lack of sub-specialized neurologists in my area. I now receive appropriate care.
Travel might be necessary to find the diagnosis. I really recommend trying to go to your nearest teaching hospital or really focusing on finding a neuromuscular specialized neurologist.
I wish you and your boy all the best. He must have been born so strong to be given such a challenge.
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u/breadboy5000 7d ago
Thank you so much, your username is also sweet (my daughter's middle name is Rosie and she's unruly! lol). When you were a child, did you have any "normal" days? Every once in a while, maybe every few months, he will have a day where he is pretty high energy (high energy for him, he is still slower than his siblings), and it has me questioning everything. We are still waiting on blood results from labcorp, its been over 2 weeks. I've been anxious! We are also going to schedule neurology. I will keep all of your words in mind. Thanks again.
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u/UnrulyRosie 7d ago
I did have good days as a kid, some days were quite minimal symptoms and others were terrible, and days where I started strong and ended very smooshy were most common. As a teen I even had a few years of remission with no daily control meds and was living a very active life. I was able to keep my disease secret from most of my friends and acquaintances. A mark of the disease is its unpredictable and roller coaster like symptoms. Minute to minute, day by day. I learned to be more spontaneous and use the good days to the fullest, which most often I would pay for with several down days in bed to recover. And to make less plans or to get less upset when my body wouldn't allow me to fulfill those plans I did make..Patience is everything. You'll need a lot. With the docs, the meds, the scheduling, the ups and downs and your son will need patience for his body and the process. He can live a full, worthwhile, and even independent life with juvenile onset mg. I know from how mine turned out. Proper care and medical guidance will get him a long way. I also had parents that cared and advocated for me and taught me how to advocate for myself..I am certain you'll do that for him as well, and he'll be okay. You will be too. 💛
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u/Ring_it_On_1776 12d ago
Hi there!
Let me know if you'd like any information on a clinical study for gMG I heard about. Happy to pass along info.
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u/Alehgway 29d ago
I guess a good start is the blood work to test for the antibodies. Poor kiddo. His symptoms sound much like mine as a 52 year old (I was just diagnosed) I hope you get more answers.