maddykate Posted February 19, 2011 Share Posted February 19, 2011 My nephew is 13 years old. In October 2010, he had a flu type illness. Due to severe coughing (or we think it is due to the coughing) he lost his voice. He can do nothing but whisper. Around this same time, he began having some sort of gagging reflex. He doesn't actually throw up, he just makes this rapid gagging sound. It began with 2-3 gags at a time, spaced about 10 minutes apart. He did this for 2 weeks or so. Then, it progressed to about 10 gags, 5 minutes apart. He did this one for about a week. Then, over the course of two weeks, it progressed to about 120 gags, about 3 minutes apart. Then, it got to be a continuous gagging sound non-stop, except for when he is asleep. He does get relief when he is sleeping. Now, it has turned into a type of panting/gagging sound, non-stop. This poor child has been to every kind of doctor - neurologist, ENT, psychologist, etc. He has been on steroids, antibiotics, mental health meds, and even an IV Ig. None of those things have helped him. Nothing has helped him at all. The doctors are at a loss and have now suggested that he just has a really bad tic disorder and are treating him with some really, really strong anti-psychotic meds that have not helped in any way and are so bad, he has to take another drug with it as an antecdote. He has no control of his tongue; it seems to hang out of his mouth all the time. He cannot speak above a whisper; he cannot project his voice at all. He struggles to even eat or drink and has to go the hospital every few days due to dehydration. I am posting this in hopes that someone out there, somewhere has heard of something like this and can give us an idea of what path to take next. Any suggestions are greatly appreciated. Quote Link to comment Share on other sites More sharing options...
helena Posted February 19, 2011 Share Posted February 19, 2011 Wow, this sound horrible, I'm so sorry he's going though this! :grouphug: All I can offer is, have you looked into Tourette syndrome? Both my daughters, and husband have it. It can come on very powerful and aggressive. My youngest was hit so hard in the beginning, she was having a hard time doing anything normal, play, school, breath, talk... It got her so exhausted, thank goodness sleep gave her the chance to rest her mind and body. It was all very frightening and heart breaking. In TS the tics will include both physical and vocal tics, is that something that's happening? They also change and evolve.. There are a lot of resources out there, here is a basic place to read up: http://www.tsa-usa.org/ Also, have you tried an acupuncturist? A good one might be able to take the edge off at least. I would do some research and find someone who's both a western doc, and Chinese trained. Someone who is respected in the community. good luck to your family.. :grouphug: Quote Link to comment Share on other sites More sharing options...
Ana Posted February 19, 2011 Share Posted February 19, 2011 the only thing I can think of that remotely resembles, right off the bat, is ASD (Atrial Septal Defect) and that's a long shot. Some of the things you described such as the panting (Difficulty breathing, aka dyspnea) flu type illness (Frequent respiratory infections in children.) has he had his heart checked? It's possible he may have had an transient ischemic attack due to ASD that has caused the issues with his tongue, gagging and inability to eat or drink. You did mention an appointment with a neurologist though, any MRI taken? CAT Scan? ASD can also be the cause of poor growth if that is an issue. Another thing to check into would be a chiari malformation at the base of the skull. It can cause some of the symptoms you have described such as the difficulty eating, tongue control and gagging. also, this: He struggles to even eat or drink and has to go the hospital every few days due to dehydration. bothers me. why has the doctor not admitted him for observation? I would be asking this question if he is dehydrating that much, that fast. That would have me placing a PICC Line to make sure he didn't dehydrate and make sure he is nourished properly. just throwing it out there. Had this kid had came to my office, I would have sent him for a work up with a cardiologist and out for an MRI and Cat Scan looking specifically for transient ischemic attack or chiari malformation. hope this may help, I hope it is resolved soon, my heart goes out to him. Quote Link to comment Share on other sites More sharing options...
specialmama Posted February 19, 2011 Share Posted February 19, 2011 I once knew a girl who had something remarkably similar. I know it was a while before they knew what it was, she was out of school for several months. It turned out to be some vocal cord disease/infection/something... I'm sorry I don't remember much more. It does sound similar from what I can remember. You're wonderful for researching, and I'd encourage them to not give up until they have solid answers. Quote Link to comment Share on other sites More sharing options...
Ana Posted February 19, 2011 Share Posted February 19, 2011 (edited) I once knew a girl who had something remarkably similar. I know it was a while before they knew what it was, she was out of school for several months. It turned out to be some vocal cord disease/infection/something... I'm sorry I don't remember much more. It does sound similar from what I can remember. You're wonderful for researching, and I'd encourage them to not give up until they have solid answers. does epiglottitis or supraglottitis sound familiar? I would think the ENT would have caught inflamed or infected vocal chords? Edited February 19, 2011 by Ana Quote Link to comment Share on other sites More sharing options...
maddykate Posted February 19, 2011 Author Share Posted February 19, 2011 Thank you for the replies. He has had 2 MRI's of his brain and they have done a scope down his throat twice. Nothing shows abnormal. The doctors are at a complete loss - on Thursday, the doctor sat down on his hospital bed and pointblank told them that they have no idea what this could be and they are going to try to send them to a hospital in Cleveland, OH that may be able to help them get some answers. This has been a nightmare for our family. The panting has somewhat evolved from the gagging. He sounds like he is kind of gagging really, really fast - if that makes any kind of sense. It makes it sounds like a panting. Would they have been able to see the Chiari malformation on the MRI? And would he have had any kind of headaches associated with it? Also, my husband reminded me that he also has short-term memory loss...they didn't know if that was from the powerful medication he was on or if whatever this is, is causing his memory loss. Any other suggestions, please? Quote Link to comment Share on other sites More sharing options...
specialmama Posted February 19, 2011 Share Posted February 19, 2011 does epiglottitis or supraglottitis sound familiar? I would think the ENT would have caught inflamed or infected vocal chords? You'd think, eh? That's the problem, that sometimes it is not found by the first 2 or 3 people, and even the specialists err sometimes, especially if it's a rare condition. I don't remember much more than that though, I was around 11 years old and this happened to a girl who took my school bus. I wish I had paid better attention. It sounds horrible. :crying: Quote Link to comment Share on other sites More sharing options...
fairytalemama Posted February 19, 2011 Share Posted February 19, 2011 (edited) I don't know what kind of insurance they have or where they are located, but my family has had great success in figuring out unidentifiable medical issues at Mayo Clinic in Rochester, Minnesota. We went there every summer beginning when my youngest sister was a year old because she has a rare type of asthma that is virally induced. This was discovered by the Mayo doctors on her first visit. The local doctors knew she had asthma, but couldn't figure out the trigger. On two separate occasions my parents also went there for issues of their own that our local doctors couldn't figure out. My mother's example stands out to me. When I was in high school, she got what appeared to be a bite on the neck. The bite turned into a red line on her neck and then went away. Shortly thereafter, she started getting full body tremors. The local doctors thought she had Lyme's disease or MS, but couldn't decide which. When my sister's visit to Mayo arrived, my mom made an appointment too. After all the tests they ran, they told her that they had seen about 20 other people in the last year with the same symptoms. They too didn't know what it was exactly, but knew that in all the other cases the symptoms ended within 6 months of beginning. Sure enough when it hit the 6 month mark, my mom was fine. The great thing about there is that the entire city is dedicated to medicine so almost all the hotels have shuttle service to all the clinic and all the hospitals, and there's an underground tunnel system connecting the medical centers too. I hope you find a way to help your nephew. I can't even imagine what you're going through.:grouphug: Edited February 19, 2011 by fairytalemama Misread on relationship to OP Quote Link to comment Share on other sites More sharing options...
maddykate Posted February 19, 2011 Author Share Posted February 19, 2011 My BIL and SIL have been discussing the Mayo Clinic, but were told that they had to be "accepted" first. That you couldn't just make an appointment - but maybe that is due to their insurance. Which, by the way, has been a nightmare for them. Their insurance wouldn't cover the IV Ig for him, so they had to pay $11,000 for it out of pocket. Which they willingly did, thinking it was going to be the magic that cured him. Unfortunately, it hasn't even seemed to make a difference. Please keep the suggestions coming. Quote Link to comment Share on other sites More sharing options...
Ana Posted February 19, 2011 Share Posted February 19, 2011 Thank you for the replies. He has had 2 MRI's of his brain and they have done a scope down his throat twice. Nothing shows abnormal. The doctors are at a complete loss - on Thursday, the doctor sat down on his hospital bed and pointblank told them that they have no idea what this could be and they are going to try to send them to a hospital in Cleveland, OH that may be able to help them get some answers. This has been a nightmare for our family. The panting has somewhat evolved from the gagging. He sounds like he is kind of gagging really, really fast - if that makes any kind of sense. It makes it sounds like a panting. Would they have been able to see the Chiari malformation on the MRI? depends on whether they were looking for it and how big it is, I have seen small ones do some terrible things. And would he have had any kind of headaches associated with it? most of the time, yes he would. Also, my husband reminded me that he also has short-term memory loss...they didn't know if that was from the powerful medication he was on or if whatever this is, is causing his memory loss. could be any of the above mentioned. transient ischemic attack, Chiari, medications, just being a 13 year old. Any other suggestions, please? I hope they are able to find the answer at the Cleveland hospital. The doctor seem very thorough and is willing to do more, seems on the ball, that's good! Quote Link to comment Share on other sites More sharing options...
Pippen Posted February 19, 2011 Share Posted February 19, 2011 My BIL and SIL have been discussing the Mayo Clinic, but were told that they had to be "accepted" first. That you couldn't just make an appointment - but maybe that is due to their insurance. Which, by the way, has been a nightmare for them. Their insurance wouldn't cover the IV Ig for him, so they had to pay $11,000 for it out of pocket. Which they willingly did, thinking it was going to be the magic that cured him. Unfortunately, it hasn't even seemed to make a difference. Please keep the suggestions coming. Since this followes an illness, research PANDAS. I have a nephew who started severe tics following a strep infection. In hindsight the parents realized that the tics had been there all along, simply in mild forms, and that the infection broke open the floodgate. Eventually he was diagnosed with Tourette's Syndrome. Your nephew's situation sounds very similar, except with a different set of tics. http://intramural.nimh.nih.gov/pdn/web.htm Also, the parents need to be aware that some of the antipsychotics can cause side effects of tics, either starting immediately or gradually increasing over time. It's also important for every parent with a child on antipsychotics to be aware of a condition called Tardive Dyskinesia. http://en.wikipedia.org/wiki/Tardive_dyskinesia I'd also highly suggest Mayo or another larger university hospital. I had a relative hospitalized for five weeks with a rapidly deteriorating neurological condition that the local doctors were unable to unravel. They took her to Mayo and they had it identified correctly in 24 hours. Getting accepted usually isn't difficult, and as far as costs go in the long run it will probably save them money if they get an accuarate diagnosis than diddling around trying treatments without knowing what's really going on. Quote Link to comment Share on other sites More sharing options...
JudoMom Posted February 19, 2011 Share Posted February 19, 2011 My first thought was PANDAS since it followed an illness. Quote Link to comment Share on other sites More sharing options...
dancer67 Posted February 19, 2011 Share Posted February 19, 2011 Well, I am going to throw this out there because someone I know had these symptoms. It turns out she had a severe allergy to certain things in food/drinks/airborne allergens and chemicals. She had: Coughing Gagging Lost her voice Dehydration They passed it off because she did not have the normal symptoms of allergies. One of her Dr's decided to send her to an allergist for the heck of it, and that is how she ended up being DX. Since then, she has been symptom free.(Of course, she had to do ALOT of eliminiation). I really hope they are able to find out what is going on with him.:grouphug: Quote Link to comment Share on other sites More sharing options...
JFSinIL Posted February 19, 2011 Share Posted February 19, 2011 My first thought was PANDAS since it followed an illness. Me, too. Quote Link to comment Share on other sites More sharing options...
wapiti Posted February 19, 2011 Share Posted February 19, 2011 Since this followes an illness, research PANDAS. This was the first thing that came to mind when I read the OP. Quote Link to comment Share on other sites More sharing options...
katemary63 Posted February 19, 2011 Share Posted February 19, 2011 I have a friend who had only 1 symptom. Trouble swallowing. For awhile, she could barely eat or drink at all. She was diagnosed with Myasthenia Gravis. The disease just attacked that part of her body only. I doubt that's the problem for your nephew, but...just thought I'd mention it. Quote Link to comment Share on other sites More sharing options...
EKS Posted February 19, 2011 Share Posted February 19, 2011 Esophageal spasm? I am so sorry your nephew is going through this. It sounds absolutely awful. Quote Link to comment Share on other sites More sharing options...
katemary63 Posted February 19, 2011 Share Posted February 19, 2011 (edited) I have a friend who had only 1 symptom. Trouble swallowing. For awhile, she could barely eat or drink at all. She was diagnosed with Myasthenia Gravis. The disease just attacked that part of her body only. I doubt that's the problem for your nephew, but...just thought I'd mention it. Actually, I just googled the symptions of myasthenia gravis and here they are. Horse voice and frequent gagging are symptoms. Maybe they should rule this out. My girlfriend had ONLY the swallowing symptom so just because these other things aren't pressent doesn't mean it's not a possibility. Symptoms The muscle weakness of myasthenia gravis worsens with activity and improves with rest. Weakness in affected muscles may cause: Breathing difficulty because of weakness of the chest wall muscles Chewing or swallowing difficulty, causing frequent gagging, choking, or drooling Difficulty climbing stairs, lifting objects, or rising from a seated position Difficulty talking Drooping head Facial paralysis or weakness of the facial muscles Fatigue Hoarseness or changing voice Weakness of the eye muscles, causing Double vision Difficulty maintaining steady gaze Eyelid drooping How is myasthenia gravis diagnosed? Because weakness is a common symptom of many other disorders, the diagnosis of myasthenia gravis is often missed or delayed (sometimes up to two years) in people who experience mild weakness or in those individuals whose weakness is restricted to only a few muscles. Edited February 19, 2011 by katemary63 Quote Link to comment Share on other sites More sharing options...
helena Posted February 20, 2011 Share Posted February 20, 2011 bump :) Quote Link to comment Share on other sites More sharing options...
Random Posted February 20, 2011 Share Posted February 20, 2011 This disease is dx'd via biopsies during upper and/or lower endoscopy, but it is very 'patchy' and can be easily missed: http://www.cincinnatichildrens.org/health/info/ent/procedure/eosinophilic-esophagitis-ee.htm There is also 'hyper' form of EE, which can come on suddenly. Whenever I hear of someone with bizarre neurological symptoms, I always think of Guillian Barre Syndrome. http://www.mayoclinic.com/health/guillain-barre-syndrome/DS00413 My heart goes out to your nephew and his family. Quote Link to comment Share on other sites More sharing options...
Recommended Posts
Join the conversation
You can post now and register later. If you have an account, sign in now to post with your account.