Andersen Tawil Syndrome is a type of Periodic Paralysis that presents with episodic weakness including paralysis and cardiac abnormalities which can include Long QTS 7 in some, but not all patients.
Hi! I haven't checked in here in some time, but am wondering if anyone new is here. We have genetically confirmed ATS in my family. If anyone would like any advice or information, please feel free to post. Take Care,All.
kathy, are you going to see Dr hanna at the hospital in ontario? i believe he is associated with dr. griggs and tawil as far as research is concerned? Have you ever visited the Cinch website info here about research im gonna email you dr. hannas email and suggest you be proactive and email him a letter as well as a photo of your fingers and toes as well as a description of your symptoms and ask him if there is a way you can work around the referral issues or perhaps he can help you by contacting your physician... thats just a suggestion. IM gonna email dr hannas email phone # etc directly to you ! I did receive an email today about updates here..12/11/09 karen
Hi Karen, I was surprised to see new posts as I usually am notified by e-mail about any activity on this site. I am doing well. I have an appt. on Nov. 11 with a doc in Toronto. As always I am optimistic about this appt. Diagnosis or direct path to one is what I anticipate. Loren's post about the new research doctor is very promising. I will be more than happy to help in any research as soon as I am diagnosed. I would assume it is a requirement. Soon, very soon. I hope you also find the answers you are looking for. Will update everyone after my appt. Take care everyone. Kathy
Not been much happening lately im still awaiting my referral and appointment to go to Rochester my doctors office called two weeks ago and said they were starting on it but no contact since then,,Did any of you attend the conference in Orlando,, I havent seen much input on the conference in the ppa-listserve yet..Im thinking about sending in 20 dollars for the disc on the previous conference..Kathy how are you doing? do you have an appointment yet? Did you learn much Loren, you attended the conference didnt you? Hope everyone is well all for now, karen
Hi Clare, Hope you are well. Haven't seen you on site for awhile and have been thinking of you. Let us know how you are doing. Kathy
I found the name and info about the doctor at henry ford in detroit,,He is the author of a very good article i found at emedicine (web md). I think the doctor is a he? anyway here goes Dr Naragand Sripatha Md. Director Nueromuscular Clinic, Department of Nuerology, Henry Ford Hospital Detroit , Mich.. kaycee (karen)
hi girls, karen here, alias kaycee. hope your appointment goes well this week kathy! my doctors office told me over a month ago that they were working on my appointment to see Dr. Griggs or Rabi Tawil in Rochester. Hadnt heard anything so i called them on thursday and still havent had a call returned Maybe on monday.. I am getting very anxious and am having a hard time resisting a call to new york to see if they have even heard of me yet!! my family is so large and i feel this is all through my rather large family! Hope all is well with you kathy.. There is a doctor at henry ford hosp in detroit i could contact would be closer for me and most of my family four hours travel vs 8 to 9 hours (and i know where it is!) The doctor there is the doctor that wrote or provided the physicians sheets at the ppa website. I too will be glad to donate cells once i get a diagnosis. Kathy will any of your family members be getting checked out if you are diagnosed? I certainly hope so. to dr lus research. Hopefully all goes well kathy!! Good luck and heres to feeling better! karen (kaycee)
Hi Kathy- Good luck with your appt! I will be thinking of you! Yes, for now, the participants in this research need to have genetic confirmation of ATS. I realize that could take some time in your case, but I will keep you, and others updated. I think this is *extremely* promising research. It has enormous potential ! Also- once the cells are collected the scientists can continue to generate more cells and research many more aspects of ATS- so one donation is practically unlimited in it's potential ! I am in close contact with Dr. Lu. My family will definitely be donating cells. I am so happy he is beginning this important work! Take Care- Loren
Hi Kathy- So good to hear from you! I had been hoping you'd already been seen! Sorry you're having to wait! I'm all for phoning- sometimes these things are just buried on a secretary's desk! About the stiffness you describe- my mother-in-law does get a very mild form of that and it really sounds like myotonia . Sometimes after carrying in grocery bags her fingers will need to be opened up by her other hand as they are a bit frozen in a closed position. Also, more often- her toes bother her at night- her big toe will just pop up and freeze in a weird upright position, waking her up. To relieve it she has to get up and walk around on the thick carpeting in her living room for a while. I think myotonia is not listed in the official symptom list for ATS, just as the urinary issues aren't, so sometimes when you bring these things up they don't fit neatly into the pre-designed"box" that some physicians assign patients to. Thinking about it, my son had just recently mentioned he felt "stiff" , but to my knowledge it was the first time.Not something happening frequently to him anyway. I can't wait till more symptoms are officially documented and acknowledged! It will make such a tremendous difference for everyone- now and in the future. So on my end, I do report symptoms honestly but very carefully and document them in a notebook I keep as a journal of my son's meds. attacks, symptoms possible triggers etc. Kathy- I just thought I'd mention that Dr. Shannon Venance also works in coordination with Rochester and they do recommend her- so that's a hopeful sign! I love your new term- SOMAW- I definitely qualify for that too! : ) Just so you both know- I'm leaving for rochester for 5 days starting tomorrow and don't think I can pick up this site. I can pick up e-mails on my cell phone though. If anyone wants to exchange e-mails off list I'd love to, now or in the future. Hmmmn- I'm trying to figure out how to do this w/out posting it on the world wide web... Well, I'm clueless- so- here goes: firstname.lastname@example.org Take Care All- Loren
Hi Karen and Loren, I'm here. Haven't heard about my appt. yet but plan to phone at the end of the week to check on it. I find the urinary issues interesting. On the most part I think my urinary incontinence is from having 3 babies but I know after an attack I have to pee real bad. Because alot of my attacks involve uncontrollable shaking before the weakness or paralysis I thought that it just shook up my bladder. Because the research of ATS is basically very new, I feel so much more will come to light with the increase in numbers of confirmed cases. I will most definitely be involved in any research necessary when my diagnosis is confirmed. If I can spare just one person from going through the diagnosis nightmare I've had it will be all worth it. I also have what I call temperature change intolerance. The cold has always bothered me. Co-workers used to tease me because I always wore my ski-doo suit to and from work because if I get chilled it takes forever for me to warm up. I also have a problem with overheating. The majority of my espisodes involved floppy paralysis but one attack I had I went completely stiff and I couldn't move or talk. I thought I was talking, just jarbled but my son said it was just grunts coming out. I thought I was having a stroke. Even the ambulance paramedics couldn't believe how stiff my body was. Really don't know what happened. As usual, the ER doc was baffled. As ridiculous as this will sound, I wouldn't be surprised if my chart is flagged, SOMAW (stressed out middle aged woman). I think I just made that up, but you never know. I do recall one incident of my jaw locking for several hours and another when my left hand wouldn't open every morning for a few weeks. I would have to use my right hand to bend the fingers straight one at a time and then I could flex them which would make them work again. The finger stiffness was attributed to a promotion to supervisor which required alot of writing on a clipboard that I held in my left hand. Made sense. Karen - If I've learned anything over the past 8 years it is that people with specific medical conditions are NOT immune to unrelated medical problems. I understand how difficult it is to sort out symptoms and designate them to the correct cause, especially in our cases when we don't have a confirmed diagnosis. Hang in there and keep fighting for a diagnosis. I'm sure in my next post I'll be able to let you know when my appt. in London is. Kathy
Hi Karen- Wow- lots to think about, all the time, isn't there? Re: smooth muscle effects- I was told ATS only affects skeletal muscle. I admit I don't know why, and I can't verify if this is true. It is what one physician believed to be true when he told me. I always hold thoughts in the back of my mind, waiting to see what will come to light as further research is done. It's really interesting you feel your muscles tighten up- my son goes floppy like a rag doll. Do you get stiff , or do any muscles freeze( like being unable to unclench your hands or jaw?) Just wondering what you're experiencing- it's different than my family. My son shares your problem of easily overheating . His cardiologist offered to refer him for testing of his autonomic nervous system, but when I asked her if it would help define different or better treatment she said honestly, no. So I passed at the time. I am a big believer in having tests and research done- it's the only way the science of treating people will ever move forward. so if a researcher needs some info and I think that info will help move things forward I am all for it! In this case I dont think it would have been of mush benefit . It sure sounds like you are already started on a good path with your meds, but I do know what you mean about tweaking it. That's what has made all the difference for my son. So scary about your reaction after surgery- yikes- the things we don't know about when we're out cold! Good to hear from you ! Good luck with your referral! By the way, have you heard from Kathy on her appt w/Dr. Venance? Take Care- Loren
Hi everyone! Its karen back again with another name kaycee this time.. i couldnt use the ones from before as the sight wouldnt allow it.. also i had to open a new email accounts as it wouldnt allow me to use old one i had already used. Must have been something about my ole computer.. i will know as soon as i get back here and try to sign in again. LOL. looking to see if curt introduced him self here!! Ill call him on sunday and see how he is doing!! I think im gonna aim for a trip to new york state.. there is a doctor at akron childrens hospital but he is quite new at andersen tawil with only a couple of patients.. New comp/ is working well.. hopefully they will let me return after i leave. karen (kaycee)
Yay! Shannon Venance- a name that I've seen on many articles on ATS! Very good!!I'm so happy for you! For tracings: here- try these links: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=pmc1501096 http://www.circ.ahajournals.org/cgi/content/full/111/21/2720 http://www.ipej.org/0601/kannankeril.pdf Well, these are a start, anyway.I had r to do it fast as its time to get my son to bed. Take Care- Loren
Hi Loren, It is Dr. Shannon Venance I will be seeing as far as I know. That is who the MDA suggested and who I requested the referral to. I hear she is an excellent doctor and know she is knowledgeable on ATS. I do remember seeing ecg examples before but do you think I can find them again. I will eventually. Yes, I always have someone with me at appt's because of the driving. I've been stranded before because of this and had to have hubby and/or sons pick up me and the car. Luckily, always fairly close to home. I live just outside a small city but never risk going far by myself anymore. Will let you know when my appt. is. Thanks again. Kathy
Hi again Karen, I got a reply from Dr. Segal. He suggests I have my ekg checked by an expert. That is my main problem, I can't find an expert. I'm not sure how things work in the U.S. but I have to get a referral from a doctor to see a specialist. He was encouraging though. I'm just going to keep looking. Hopefully the right doctors will be at the clinic I go to next. Feels like this journey will never end and it is wearing me out. I am going to check if we have any of the specialists you refer to around here. Kathy
this is karensue alias kattsqueen,, just wanted to share a few ideas the doctors we need are nuerophysiologists and or especially an electro physiologist which is a cardiologist specialised in picking up syndromes on the ekg...i found one about twenty miles from home will call to see if he is interested in seeing me and or my son...same with the nuerophysiolgist His clinic is call the people first clinic so it has a hopefull name karensue alias kattsqueen ps. i read some where that there is only about 100 cases of andersen tawil disorder but i think there is more than twenty in my family and a few that are gone from the family like my sisters son that she gave up for adoption 35 years ago My cousins son given up for adoption,, to me it seems like way more than 50% penetrance in my cousins,,, prob since grand ma and grandpa were first cousins.
hi beryma for some reason the sight wouldnt recognise my password and i had to start a new account,, so here i am...im fairly new with computers my self but i do love to google...did you get my email email@example.com still welcome to email me and i can send you info any thing you wrote to me in other thread i cant seem to access
Just curious how long it took to get a diagnosis and what the diagnosis was based on? My frustration with my symptoms is taking me over. Any help and information I can get from anyone at this point, will be helpful.
Sorry didn't get back here sooner. My sister surprised me with a visit for my birthday. It was so nice to have her here all week. How are you doing? I'm glad your doctor has realized that your symptoms are caused by a medical condition. I haven't been so fortunate but then again, I never realized it was not normol to get so weak and tired like I do. It wasn't until I started an "eight hours on your feet" job that I realized I have serious problems. Then when I started reacting so bad to perfumes and such things I knew something was wrong. I've had to go to doctors in Toronto (a 1.5 hour drive) to try to get help. Sooner or later I will find one who can help me. I hope you have success getting diagnosed faster than I have. Well, enough grumbling. Let me know how your doctor visit goes when you ask about ATS. Look forward to hearing from you again. It really does help.
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