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Questions on Symptoms/Testing for my 16 year old son

Hi! OK, so my name is Beth and my son Bruce who is 16 has been keeping doctors befuddled. Bruce has had many things go on with him in his life. He had been diagnosed with Juvenile Arthritis despite normal xrays, labs and not a single Arthritis drug helped him. Congenital Myasthenic Syndrome is a current diagnosis, but 3 doctors agree and 2 from big hospitals disagree. In the past few months the tremors that he has had since he was little came back with a vengeance. He wasn't sleeping well and told me his eyelids and tongue had tremors. He also noticed that his fingers and toes would dance. Diagnosed with Polyminimyoclonus A few weeks after that he got worse and started to have lightening fast jerks in his head an all throughout his body. Right side being worse than his left.Right side of cheek twitches. All limbs move/jerk but his right side is worse. He's better if he's moving as they are not so noticeable unless you see him eating. Its when he's relaxed. Actually he looks quite normal and handsome 😀. We got a SPECT Scan done and he has what looks like a TBI yet he has never hit his head that hard. Neurologist said something is definitely going on neurologically. So, Bruce failed the Babinski sign in both feet and has hyper reflex in both knees. All Mri's of brain and spine are without lesions. 72 hr EEG showed bruce having partial simple seizures.he failed visual evoked potential on right side and almost on his left. The Somatosensory test was normal but both his big toes didnt move and nurse jacked up the voltage but dr said it was still normal. All labs were normal except for his B-12 and is currently doing B-12 injections. All symptoms are still the same. Doctor thinks its B-12 deficiency but not taking MS off the table. Dr worked him up like he was looking for MS. As i look back at his life so many things have come and gone. Weird things.Tinnitus in both ears. Episodes of not being able to stand and 5 minutes later he could. Urgent need to Pee(lasted several months), Tremors that got worse for a day. Pins and needles from waist down for a day. Vitamin D deficiency contributing to Restless Leg Syndrome. The RLS is still there a couple times a week. Gosh, so much more and dont get me started on memory issues... OH yeah he also has Ulcerative Colitis. Things are getting worse and looking worse. His hands/fingers dont work so well. His explanation is how it feels to put your hands in icy cold water and try to move them. Im thinking thats numb without the pins and needles. Hes been dropping things lately.. Little things like his pills and asks me to pull heavier things out because he doesnt trust his hands. Hands feel better in a relaxed fist I could keep going but wanted to ask if any of this sounds familiar? We are getting 2nd opinions and getting therapy...all of them for him. I checked about the TBI. Dr said its hypofusion meaning the temporal lobes are not functioning at 100% but at 40%. How or why he got it is unclear. Lesions come and go and if im not mistaken thats why neurologist is not taking MS off table. Everything else we have tested for besides the B-12 are all normal. So any help would be grateful. Please correct me if needed that how i learn. Thank You

  1. Hi BethD! First off, you are doing an amazing job advocating for your son. I really can't offer any suggestions as to what else you could be doing or doing differently. It sounds like you are doing everything you CAN do at this point. I am a mother too, and if a mother's love could heal a child, I know there would be almost no sick children in this world! Your son is definitely experiencing a lot of issues (or has in the past) that seem like MS symptoms. If you haven't already, you can read a list of common and not-so-common symptoms of MS here -- Also, here is information on the diagnostic tools a physician will use to reach a diagnosis of MS -- As frustrating as it may be to hear, or in this case read, you are doing all you can for your son. It's up to the doctor's to find a proper diagnosis. But it's ok for you to keep asking questions and pushing for answers. Hang in there and please feel free to update us on your son's situation. Thank you for reaching out and good luck! I hope you get some clear answers very soon. Best, Erin, Team Member.

    1. Hi thank you for replying, In the past couple of weeks bruce has not felt well. His legs have been burning when he gets up in the morning. It lasted for 4 days then it went away. And he has started with the myoclonic jerks again. About 2 every night that jolt him up. He hates that. We have noticed that his bicep left side has felt achy, he calls it a Charlie horse. When he went in to get a B-12 shot he said it hurt and that it felt like his muscle would not relax. He says its like the muscle is being pulled up. it finally let go after a few days. The nurse thought he was just tense because of the shot but even she noticed the muscle was tensed and that his arm was well...tense. This past week was so hot and he was so tired. His legs were weak/wobbly upon standing and sitting. The weird thing is that I can see and feel his body vibrating. The muscles move in such a crazy way I wish I could show you a video, so I know that yes some people have had this. He also walked in front of a car the other day. Even though there was a stop sign. He never looked over or was hesitant. He said Mom I think I just blanked out. I knew I was walking but I was just moving forward, like my body was just moving. He then got super tired. We are trying to get in to see someone at John Hopkins as well as Children's Hospital of Philadelphia. Now to try to get everything on a disk. If this sounds familiar please let me know. Oh and one more thing, the weather is cooler now and his body and thought process is more alert and he says he feels pretty good. I do know that he does so much better in cooler colder weather. Thanks to anyone who replies and says that this sounds familiar.

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