I have been diagnosed with ATS. Just want to know if there are others out there and maybe we can share info on how to deal AND live a long time.

Apparently not many out here. I just hope you check this. I am not yet diagnosed but am being investigated for it. I hope to finally have an answer soon. I am curious about your symptoms and clinical presentation. Do you have any of the dysmorphic features described, heart symptoms, etc. This has taken over my life and it is very difficult to find a Dr. who has heard of this and doesn't look at you as if (well you probably know) you've lost it. Look forward to hopefully being able to help each other.

My Doc suggested Periodic Paralysis, but when i went on the internet ATS just seems to fit perfectly! i am currently trying to find out as much information as possible about it, and will suggest it to my Doctor. I get the paralysis, heart symptoms and even have the webbed toes! Currently doing diary to see what triggers attacks- not getting any answers so far though.

Hi Claracluck80, My name is Kathy. I live in Ontario, Canada. I am also seeking a diagnosis and believe ATS is a strong possibility. I also have webbed toes, heart symptoms and definitely the paralysis. I also get what I believe to be severe repetitive myoclonus. Triggers identified - perfume/cologne and paint primer (ethanol?) which makes going out anywhere very difficult. I haven't been able to figure out other triggers that may be involved. Good luck with your doctor. Sounds like he/she at least is investigating. Please keep in touch. It's nice to know one is not alone. Even though I have a family, it is hard for others to understand when they are not experiencing it. Take care, If you don't mind, how old are you? I'm 49 and feel like I'm being robbed of my best years.

Hi Kathy, My name is Clare, from England and i am 21. It is interesting what your triggers are, i seem to have no problem with perfume etc. Mine seems to be caused more from exercise and diet. There is medication that can help- im currently on some and havent been paralysed for 2 weeks now (an achievement!). There are docs out there who will help! Good Luck!

Hello im home!! Hi everyone my name is karen and I am not from canada but my grandparent were and they were also full first cousins too...Lavasser was my grandfathers last name. I am self diagnosed from the internet and my own persistence to find my answers!! Been trying to get a hold of my doctors they of course are all on vacation..my symptoms that lead me are many let me list yes my muscles ache all the time.. Yes my sleep is bad and non restorative yes i have a sensory overload type of add yes i have chronic fatique Yes i get muscle twiches and jumps yes i feel like ive been hit by a truck after eating meals containing carbohydrates Yes i go to bed after eating my once a day meal (self adaptive behaviour?) yes i have a diagnosis of fibromyalgia too! yes exercise makes me worse wipes me out! oh and yes I think it is running rampant through my brothers and sisters, kids, nieces and nephews cousins my aunt on my mothers side and my mother.. at first i thought it was hypokalemic partial paralkysis in particular andersen tawil syndrome because french canadian background small lower jaw and crooked toes and fingers red heads in the family lidocaine and other local anesthetics dont work for me either.. I have been in contact with Dr Michael Segal phd. md. nuerology i emailed him and sent him a list of my reasons as stated above and he concurred but of course can not diagnose me since he has not met me.. His paper on rare type of nuerosensitive overload add is what sent me in this direction.. I am already self medicating with some potassium supplements and feeling much better all the way around but i do know that i have to see a doctor as soon as possible thank you all katts

Hi Karen, I am also self diagnosed. I haven't had the luxury of a doctor that is even willing to read about ATS but they are sure I don't have it because my potassium is within normal range. Very frustrating. If you don't mind, I'd like to know how old you are. I also have a French Canadian ancestry on my father's side (he died at 31 of an apparent heart attack, no autopsy in 1961 and his brother at 34.) Another issue they have is my age. They say I would have had problems before I was 20 (they've heard of periodic paralysis). I think I did but never realized my days of severe weakness wasn't normal. This could answer several health concerns within my family. Anyhow, strenght in numbers, is an old saying. Hopefully the more people diagnosed with ATS will help others not to have to go through the diagnosis nightmare I have experienced. I am going to e-mail Dr. Segal also for an opinion. Thank you for that info. Sorry, I get a little windy when I`m posting. It`s just easier talking about it when I think someone actually understands what I`m talking about. I hope you keep in touch. Kathy

Hi again Karen, I should have read your profile before I replied. Now I am very curious when you started having severe symptoms that started your diagnostic journey (I was 41). We are close in age. Is that Feb. 6 or June 2 (just curious cause I`m June 2). Also, where did you find Dr. Segal`s paper and him. I tried to google him but can`t figure out if any results are him (I only have basic computer skills). Hope to hear back from you. Thanks Kathy

hey beryma im back!! my doctor is still on vacation and my gynecologist wants nothing to do with andersen tawil syndrome...I found dr. segal through my add forum that i am in... i was diagnosed with inattentive add about 10 years ago While i was in the forum someone had a link to an article about a rare form of sensory overload attention deficit disorder.. the author dr michael segal phd. md. i had all of the symptoms talked about in the paper. applied to me. I called a doctor in peru indiana that advertised sensory overload treatments. He was a DO. they told me he didnt go into detail like that. I believe that the type of doctor we need to see is called an electrophysiologist. there is one in akron ohio i believe at akrons childrens hospital .. baker i believe is his name.. according to something i read a lady went there from california for diagnosis and treatment planning...closest one she could find a drive but not undoable for me...Maybe hell take my medicare... i was just looking at new members and saw Douxs picture could be my brothers identical twin amazing!! Im really hoping when my doctor gets back shell be willing to work with me and my kids on this.. I believe both of them have the same gene thing i do both definitely have the aches and pains and sensory overload issues.. facial characteristics are more subtle though.do you have Dr Segals email cause i can find it for you... my email is karen3565@gmail.com If you go to addforums and sign up do a search of hollyducks post re dr segal..when i read his article it posted there. Rare sensory overload type of add thats where i found out about andersen tawil....Ive been looking at a few pictures of persons with andersen tawil and we all look alike... that explains why one day back in the 70,s I actually saw my identical twin but now i understand... sorry for rambling. my screen name is kattsqueen there too.. im situated in indiana so an ohio trip is very workable if necessary id be glad to email info to you and some links if you want ... karen

hey kathy im sorry i referred to you as beryma,,, i did find my way back here my bad!! Isnt that silly! oops still trying to find way around here!!

Hi Karen, Don't worry about the name. I've been called much worse (lol). Actually I made up the name from the first 2 letters of each of my sons names (I have 3). I've e-mailed you. Hope to continue corresponding and being a support system for each other. It is so difficult for others not affected to understand. Kathy

Hello everyone! I have finally been diagnosed with ATS. I had to resort to a second opinion to a neurologist however, and take print outs descibing the syndrome. They looked at the evidence and thought I was right. They checked my potassium on a few different attacks and sometimes it was low and sometimes it was completley normal. While willing to diagnose me with the syndrome he is refering me to see a cardiologist and a specialist for genetic testing as he admits this is a bit out of his depth. I have already tried acetazolomide which is the recommended treatment and that didn't work so currently waiting to see the other specialists to see if they have any ideas. There are docs out there who are conducting clinical trials,as far as I can make out there are some in London, new york, Boston, Germany and France. If you are having trouble getting diagnosed it might be an idea to email them and find out who would be the most suitable. Don't know how different countries healthcare systems work but I just get my GP to refer me to where I want to go. I hope you get sorted soon, by the sounds of it I have been very lucky to get diagnosed so fast.

hello everyone. I was diagnosed at 18yrs old. my symptoms are basically periodic paralysis brought on by high carbs/exercise. My face is small, but other that being a petite person with a mild case of scoliosis, I don't look much dif. I have a long QT as well. My team of dr's are located in London, Ontario.

Hi Everyone, First, Clare - so glad you got your diagnosis so fast. Keep us informed of how things are going. Lana - so glad you are back on site. I hoped u would eventually check in again. Glad to hear your med. team is in London, On. I just e-mailed a dr. there and hope I will hear back. My main obstacle has been lack of knowledge by the doctors I've seen. I live close to Orillia, On so London is at least feasible for me to travel to, about 3-4 hrs. I tried bringing printouts too (they didn't read them as far as I know) and was told not to believe everything I read on the internet because I couldn't have symptoms if my potassium is within normal range. They didn't take the dysmorphic features into consideration cause they obviously know nothing about it. Wish me luck on a response please, I just might need it. I'll let u all know if and when I hear anything. Kathy

Lana, Sorry but I have questions for u, hope u don't mind. I see u are from the states. Just curious how u got a med team in London? Have u had genetic testing? Any relatives with it? I guess that's it for now. Thanks Kathy

Hi- 3 members of my family have genetically confirmed Andersen Tawil Syndrome. I focus most of my efforts on learning about it to try to help my son who is the most affected. I live in the United States. I'm on other forums that have helped me to learn a great deal but am always looking for ways to find others who are affected, to learn and share info with. Take Care- Momz

Hi Karen- and everyone here- I'm new here, just found this forum today, but wanted to add some thoughts. 1) Karen- I don't know if you have cardiac abnormalities that you suspect from ATS. There is a doctor in Ohio- A doctor John Clark who has treated and followed more than one ATS cardiac patient . http://tinyurl.com/o73pum http://tinyurl.com/obqq7h For anyone else who seriously thinks they have ATS but cannot access experienced medical care I really recommend considering some travel to a doctor who has treated it and has enough experience with to to help you. It is hard enough to treat for the physicians who have invested years of their life researching it- for those who have no knowledge it is so difficult. My family makes a 7 1/2 - 8 1/2 hr drive to Rochester, NY. Dr. Tawil is their neurologist , but Dr. Griggs is also in contact with us , and it is he who originally diagnosed my husband and son. Both doctors have many years of experience with Periodic Paralysis and ATS. My husband and mother-in-law are participants in two of their studies on ATS. http://clinicaltrials.gov/ct2/show/NCT00839501 http://clinicaltrials.gov/ct2/show/NCT00521794 Since ATS is so rare, and so little is known about treatment I feel it is extremely important that we support the studies as much as we are able. I don't know where some of you are located , but if Rochester is impossible for you perhaps I could help with suggestions of someone closer to you....if I know, that is. So far, for us I have found that better management has depended on being with doctors who have worked with ATS and can recognize symptoms for what they are-**** in combination with**** - doing tons of reading and research myself. The more I learn, the better I am able to ask questions that help to direct my family's care . I really feel strongly both are needed at this time as even among the top physicians in this field there are different views regarding treatment, different views regarding symptoms, etc. Learning more, being better able to discuss it clearly and with better recognition helps both the doctor and the patient. Well, good luck to all, and good to find you here!

Hi Karen- Well, you are sure correct about there being more than 4 cases in the US. I'm in touch with I think 11 or more people in the states w/ATS- I haven't counted recently. Just for your info- most times an EKG will not be very helpful, or even help at all diagnostically-**unless** it's interpreted by someone experienced in ATS or PP. For my son EKG's and an echo that were done before I got him to a better cardiologist were worthless. No- worse- because I was told there was nothing wrong but there was! The best cardiac diagnostic tool for ATS is a holter monitor- it records plenty of info **over time,and at different moments** which is critical, as the cardiac disturbances come and go. So if you don't catch them at precisely the moment they're happening, you're out of luck. If you get to a physician who is willing to give you a 48 hr continuous holter ( or longer, even) that would be excellent. Many times because of insurance they must start w/a 24 hr holter and cannot prescribe a longer one until they get back one that's recorded some irregular activity. then it can usually be justified. Also- if hey are measuring for a prolonged QT interval for you that can fluctuate, especially with potassium shifts . It is really tricky to nail this, so once again getting yourself to a really good doc is top priority! If you get a holter please let me know, and I'll give you ideas of how to maximize use...such as for my son I made sure he did lots of physical activites to see if it triggers issues . But sometimes issues don't all come at the moment you are exerting- there can be fallout with muscular weakness, and I think cardiac activity much later- even a day or two. Which is why a holter worn for many days is so helpful. Last year my son wore a holter for 30 days while his meds were being assessed and then changed. Karen and others- I would encourage you to post on PPA's site asking if anyone can share their impressions or experiences of the MDA clinic you're going to.I've read that some MDA clinics have been quite helpful and others terribly disappointing. Not sure where the one in Fort Wayne fits in. I hope it will be a help to you, but if not just remeber there are other docs out there who can help you! Take Care- Momz

Welcome Momz, Nice to have someone with experience and advice on board. Like Karen, I'm not yet diagnosed but keep going anyway. It's sad but encouraging to know others have been through the diagnostic circus too, especially when it all comes together in the long run. I'm still hoping. I'm in Ontario, Canada. With no where else to turn, I contacted the MDA in Toronto recently. They located a neuromuscular specialist with experience in ATS (in London, ON) to request referral to and called me back within an hour (initially I was told it might be a day or two). I think I'm still in shock over it. The person I spoke to was incredible. She told me she could feel and understand my frustration and felt the need to help me as quick and best as possible. I have requested the referral through the GP I've been seeing, just waiting for his decision. Hopefully, he'll refer me if for no other reason than to shut me up and get rid of me. If he denies me the referral, the MDA told me to let them know and they will try to help me get to the specialist. Time will tell. Again, welcome Momz. Your husband and son are very lucky to have you but I'm sure they know that. Kathy

Hi Kathy- I'm so glad that you heard back so quickly from the MDA clinic! that's fantastic. I know some others who have had difficulty when seeking treatment in Canada . I wonder how quickly they'll get you in. It looks like Lana may have possibly been to the dr. you'll be going to...maybe Lana could share some thoughts, tips with you? It is so helpful to be able to connect with others who have been to the same docs. Thank you for saying my son is lucky to have me. I also have to say I have been incredibly lucky to have connected with good support on line which has led me to learning so much more than I ever would have imagined . So many people have been through absolutely terrible times trying to get diagnosed- and then, even after diagnosis trying to get treatment that is helpful enough. So many of us have come together now,though, so it really is a different world with the internet. We can- and do- help each other! Please keep us posted as to your progress! If you want any advice, or help, feel free to ask. If I don't know the answer I'll tell you- and try to find someone who does! Take Care- Momz NY /USA

Hello everyone, I have been diagnosed with ATS recently and have been referred to see a Proffessor Chinnery (in Newcastle) who has had experience diagnosing people with the syndrome before. He has suggested that i take dichlorphenamide to prevent attacks and fleckinide to regulate my heart. Apparently he has another patient with ATS who is on these tablets and leads a relativley normal life with an active and stressful job. I, however am not going to take the fleckinide as it can cause infertility (and at 21 that is not a risk i am willing to take). Will possibly try the other drug - depending on the side affectse, but thought i would let you know incase any of you wanted to look into it. I have already tried acetazolomide and that didnt work at all for me, although it works well for some people. Clare

Hi Clare- You're the second person here I've noticed tried acetazolamide that it hasn't worked for. I have a couple of questions and thoughts, if it's ok. First, I wanted to mention my son tried acetazolamide, and it made matters worse in terms of fatigue and weakness, and he experienced some side effects such as loss of appetite & foods tasting odd . He was NOT on potassium at that time- I have since been told it was not a fair trial of acetazolamide if he wasn't taking potassium at the same time, as it can waste the potassium away . Second,I am really wondering if you are genetically diagnosed as ATS1 ( in the KCNJ2 ) or clinically diagnosed at the moment. ( maybe awaiting genetic tests) The reason I'm asking is I'm trying to get some feeling for whether or not successful treatment is different for the different variants of ATS. I am in touch w/people with both aTS1 and ATS2 and I'm not sure if the response to treatment varies or not, but it would be interesting to see. I definitely do know both ATS1 and ATS2 patients that acetazolamide has worked for,and some that it has been a problem for , so I am still wondering what makes the difference for each person.( as perhaps the researchers are also wondering!) I am also wondering if your doctor has tried you on any potassium at all yet? It does amaze me when I read that physicians jump straight to the acetazolamide without giving the potassium a try first. That was done with my son as well, and it's the potassium that has turned so much around for him. I know everyone is so very different- that's true even within our family to some extent, but I wanted to mention this. I've heard about the flecanide- a physician from Amsterdam ( cardiologist/researcher) who has 15 ATS patients told me that is what has worked for his patients, not the beta blockers. My son is on Nadolol- previously he was on Atenolol. ( both are beta blockers) For now we are satisfied enough with the results of this med, when taken in comparison of the potential side effects of flecanide, and the fact that his cardiac issues are considered fairy mild compared to what is possible. He is only 8 yrs old. His heart rhythms have been more stable when his K (potassium) levels are higher . So, his improved cardiac readings are probably a reflection of better management of his K levels as well, not just the change to Nadolol. The increased cardiac stability with higher potassium levels( for example 4.5 or greater) has been documented ,so it may be worth discussing with your cardiologist. My son's didn't set a target K level for optimum cardiac function- this is something I've found out as we learn things from a variety of physicians, patients and articles. How do you like Dr. Chinnery ? It is always good for all of us to learn of another physician who has worked with ATS if they are helpful. How far are you from London,( The Center For Neuromuscular Disease) where Professor/Dr. Michael Hanna is? I Dr. Hanna is involved in running one of the ATS studies, and it is hoped that they will add the second study on ATS meds there as well. http://rarediseasesnetwork.epi.usf.edu/cinch/centers/ion_nhnn.htm Well, can you tell I'm happy to find a site dedicated exclusively to ATS??!! There's so few people out there w/ATS to correspond with, it is wonderful to start to bring us together! Take Care- Loren N.Y.

Hello Loren! I am currently waiting for the gentic tests. Prof. Chinnery is based in Newcastle (NE of England) really nice and has been very helpful so far, i am waiting for him to run a stress test to check my heart and bring on an attack. He is a genetisist and works at the Centre of Life in newcastle (i think he may also work in London occasionally too!), My cardiologist thinks my heart should be fine and doesnt want me to be on any drugs for it as it doesnt bother me that much. I was on potassium for a while (after they tried the acetazolamide) and it didnt seem to make much difference, i tried a high potassium diet for a while which kept my potassium levels at a good range, but have since discovered i feel alot better without eating all of the potassuim ritch food. :S so i have no idea how that all fits in! I am keeping a detaied diary of what i do and eat every day but i cant find any pattern to what i have done and my attacks or how good i feel. Clare

Hi Everyone, Clare- I'm so glad you have your diagnosis and starting treatments which will hopefully help your future. The more people with experience to share the better. As you can see Loren (aka Momz) has joined us and already a wealth of knowledge. Take care and keep us informed. Loren- Is your son ATS1 or 2. Also, you mention your mother-in-law and husband also have ATS. I'm curious about age of onset and how ATS came to light for them. Was it because of your son's symptoms and diagnosis or were they diagnosed first? My symptoms didn't have a severe effect on me until my 40's. Thinking back I've had symptoms for a long time, I just didn't realize it due to the sporadic nature of it. I'm still a little confused about the hypo, normo and hyper states of potassium during an attack. In between attacks I know my potassium has been 4.7. Other potassium readings - 3.9 - I had a brief attack at work. Once it resolved I went to the lab to have my blood taken and while I was waiting my turn, I had another attack. Once my shaking stopped they were able to draw blood (I was still very weak). Another attack at home, went completely stiff, taken to hospital. Approx. 2 or 3 hours after the attack (felt ok by then) they decided to do blood. My potassium was 3.7. The doc I've been seeing says it's impossible to have symptoms when my potassium is within normal range. I tried to tell him it is the shift of potassium not the actual serum potassium level that causes the problem but that's when he started yelling at me about not believing what I read on the internet. Not sure if you can shed any light on this for me. Some days I can read the same thing 100 times and it just won't sink in. Any info you have is appreciated. Thanks. Kathy

Hi kathy, was Reading you post and noted that you doc said you couldn't have an attack when your potassium is normal. This is simply untrue (polite version!) my docs bright on an attack so they could moniter me. My arms and legs went paralysed, my neck and facial muscles so weak I coulndt life my head and could hardly talk. My potassium was taken and it was bang on normal. My docs told me they had been doing research and potassium levels don't have to be abnormal for attacks. Normal for other people could be abnormal for us. Sounds like your doc is a bit ignorant.

Hi Kathy- Clare is absolutely correct about the potassium....so frustrating dealing w/docs who don't take the time to dig in a bit when they read about this- if they even have read about it! I will post more later but have to go for now- bedtime routines w/kids and all. But a quick reply for now- my husband and mother-in-law were dx'd with ATS after I had been on a quest for answers for my son's problems. More on this later, too- Take Care- Loren ATS1 Family, NY USA

Thanks for the replies. I am so glad I found this site and even happier all of you have too. It's nice to know others who have experienced this and can confirm the info I've read. Ignorance and lack of effort to learn about ATS by the doctors I've seen is the most frustrating part of this. I even brought in printouts to them which they briefly glance at and then look at me and tell me it's impossible. Worse, I need a doctor to refer me to the specialist, cause that's the way it goes in Canada. I even checked with the College of Physicians and Surgeons to see if a doctor could deny me referral. I was told it was up to their discretion. If I don't like their decision I can complain to the College. Lovely system. At this point, I'd rather pay to see the doc, at least I could see who I want and quit wasting time and effort on the ignorant. OK, that's today's rant. I feel better now (lol). I haven't heard back from the doc about the referral yet so I will call when the office opens today. Wish me luck. Kathy

Hi Kathy- I am wishing you luck! What a lousy system! I remember when I first started bringing my son to one specialist after another I thought I needed his pediatrician to refer us to them. Well, the physicians he sent us to were a problem- he held them in high esteem- but I do not! They missed his problems and/or misdiagnosed him ( depending upon which physician) and some were pompous and arrogant ! The best doctors he has now are doctors I've sought out on my own. I did have to pay on my own for certain doctors, but not all, thankfully. Please keep us posted- I am with you- if you have to pay one time out of your pocket to get properly diagnosed it may be well worth it! Let's see if you meet with success within your system first . Good luck- Loren p.s. I kept an electronic journal of my son's symptoms, meds, diagnoses , doctor visits for a year or 1 1/2 yrs. while we were making the rounds, diagnostically. Every time something significant happened to him I simply added it to the running document, rather than re-typing. Then I'd print it and bring it as a summary to whatever dr. we were seeing. I arranged it into different systems of the body: i.e. : cardiac muscular gastrointestinal dental lab values test results ( put under appropriate headers) etc... Included a heading for Meds and meds history -and Therapy: noted dates and frequency of therapies, such as physical therapy, occupational, feeding, speech - and School- how he was faring -and Fatigue This was a very helpful tool for me and the doctors. It saved me from needing to try to recite everything from scratch, it saved loads of time during appts, giving drs an overview very quickly and concisely, and it documented things I surely would have forgotten or confused as time passed.

Thanks Loren. I did call yesterday but got his voice mail. According to it, I will get a call back within 48 hrs. If I don't hear back by Wed. I'll call again. I've got alot of my attacks recorded by the nurses at work (when I was working, off for a year now). If you don't mind, I'm interested in your mother-in-law and husband's stories. Did they have odd symptoms they didn't recognize, were told were normal, psycological, or some other cause? I just need reassurance that just because I didn't have disabling symptoms as a child (that I remember) that ATS is a definite possiblilty. Eight years of listening to the doctors has me so confused. Thanks again. All of your support keeps me going. Kathy

Hi Kathy- Well, this is a sorry tale. As in many families, having any kind of illness was considered unacceptable, or a sign of emotional weakness. So they both had some symptoms- far less than my son experiences- but, so very much was not spoken of or acknowledged. My mother-in-law was chubby as a child, and not very good at any kind of sports . As a teenager she began to have some cardiac issues, we think- her memory is not good now, but it seems that's when it may have been noticed. In her 20's she was followed by a cardiologist. She had a lot of dental issues. She also had some falls and leg weakness, we think perhaps in her 40's or 50's but they really weren't spoken of. I only know this now. My husband was supposedly mainly symptom free as a child, but he did have a little speech therapy. He was smaller than his peers- even considered at one time for Growth Hormone Therapy . He was not a very good athlete, but he was able to participate in all sports with his friends and had good endurance. He rode his bicycle every day pretty long distances, and was very active.He did have a lot of dental issues- cavities and was told he had"soft teeth". His clear symptoms began upon puberty- for him age 14. He began to have random episodes of falling down, needing to be helped up, needing friends to pick up his books and help him to class- doctors/family didn't know why. then he had his wisdom teeth extracted, and went into quadriparesis- paralysis of all 4 limbs- for about 7-8 hrs. He was brought out of it with IV potassium. He was eventually diagnosed with Hypokalemic Periodic Paralysis. His symptoms were noticeable from his teens through his late 20's/early 30's, diminishing over time. Apparently my mother-in-law was diagnosed w/HypoPP after my husband- doctors began to look for the source in the family and realized it was her. So she was perhaps in her 50's when she was diagnosed and began to take meds for it. She NEVER TOLD my husband!!! I discovered her dx when I finally got her medical records to forward to my son's doctors( with her permission) My husband and I were shocked- we had never been told . As I was searching for answers to my sons problems I was told by my husband, mother-in-law, farther-in-law that he couldn't possibly have "what my husband had" . their reasoning was that my son had symptoms so young and so many more problems. The pediatrician also agreed. Ughhh! After a difficult search for answers and a misdiagnosis of Ehler's Danlos Syndrome I finally asked yet another physician ( who I sought a second opinion with) if they felt Periodic Paralysis was a possibility . This doctor was honest- saying she wasn't sure what it was , but said it wouldn't hurt to check. I contacted Dr. Griggs in Rochester, NY and he saw us in 3 weeks. I brought my husband this time, too, and Dr. Griggs ascertained fairly quickly that he probably had ATS, as well as my son. Rochester ran genetic testing on all family members one by one, the outcome being that my son, my husband and my mother-in-law were all dx'd w/ATS. So -each family member had a different presentation, at a different age, with huge variation in degree of symptoms. Because of my in-laws nature regarding never speaking of medical issues I knew almost nothing about my mother-in-law having any symptoms. She did have some mild weakness but never told. I actually told Dr. Griggs she had no weakness when he asked! Well, talk about getting the issues out in the open in our family! Now, almost 2 years later, she and my husband are both in studies for ATS in Rochester, and my mother-in-law tells us if she's feeling weak. My father-in-law thinks she's gotten worse- I say she's as she was- she's just telling now! My husband still finds it upsetting and difficult to speak of any of this. He still often diminishes my son's symptoms and tries to pretend they are not there. He has come a loooong way, but is still in a great deal of denial, which makes everything so much harder on everyone, especially my son. But I do believe every month that passes brings some tiny improvement in his attitude, so eventually we'll all be in a better place. So- a long answer to your question?! I hope this helps in some way. Good luck this week. Please keep us posted. Take Care- Loren

Loren, Thank you so much for sharing your family's story with me. It does help me more than I can tell you. Again, they are so fortunate to have you to take care of them and look after their medical needs. I know how difficult that is. I can certainly relate to your mother-in-law's and your husband's situations. For me, I have always been the one to look after my family, I am married (30 years) and have 3 sons. It is so difficult to ask for help. I used to be so independent, now I can`t go anywhere in public without my husband or one of my sons with me in case I run into a trigger (usually perfume). I live in fear of anything that smells like perfume. I never know what I am smelling or if I will react. I hardly get to drive anywhere anymore. Even though they all have seen me have a variety of attacks, they just can`t seem to understand that it is more than that. It just isn`t easy for anyone. Having said all that, I am grateful I wasn`t severely affected at a younger age. My heart goes out to your son having to deal with this so young. Luckily he has you on his side and doesn`t have to deal with this on his own. Again, thanks Loren. Between you, Karen and Clare, I feel like I have a support team and that alone helps tremendously. I have a bit of good news about the dr. in London. Turns out a new friend of mine has a friend that works with the doc I want to see in London. She told her London friend about me and she asked for info about my symptoms, etc. I have sent that info and just waiting to hear back. I might not need the referral after all. You never know. Everything happens for a reason and meeting my new friend certainly is proving that true. Will let you all know as soon as I do. Take care, and have a great day everyone. Kathy

Hi Kathy- Wow- this is really promising news! I will keep my fingers crossed for you and look out for your next post! Good luck!! Loren ( ATS 1 Family,NY) ps maybe a weird idea, but if it's the sensory stimulation from odors( like perfume) that is one of your greater triggers, are you willing to use some kind of a nose plug ? I know that sounds- and may look- bizarre, but perhaps there's a discreet kind- akin to ear plugs worn inside the ears....So I have this strange idea : maybe at home you could try using something to block your nose, and test how effective it is, hopefully when you have someone around to help you if you should go into an attack..... Just wondering, for example, if you have a really stuffy nose would you react less to perfume as a trigger- i.e. if you can't smell it? Thinking swimmer's nose plug and other odd more creative solutions! My son hates the taste of Liquid Potassium so he's been putting on a nose plug we got from his metabolic cardiac stress test recently . I'm sure the novelty of that will wear off soon, but whatever works as he adjusts to the addition of liquid K to his regimen!

Hi Everyone, Some good news for me. I got a call from the TO doc and he has agreed to refer me to the doc in London. I am beside myself. I also just rec'd a copy of my medical file from my old GP. After reading some of the lab reports, ER lab reports, etc. I am more sure than ever I am on the right track. One lab report from the ER showed a 3.1 potassium and an abnormal ecg from 2000. I had been at work and suddenly started coughing, couldn't get my breath and felt unwell. I don't remember all the details of the ER visit but would have remembered if I was told about abnormal results. That was a year before all this major stuff seemed to start. A real eye opener into the real world of medicine. I will never accept a doctor's word again. I will insist on seeing all lab reports, etc. I have been told repeatedly that my heart was good and strong. I have no way of knowing what the ecg results actually mean or if they are indicative of ATS but the word abnormal tells me something isn't right. Loren - I almost feel silly when I think how simple your solution to my smell problem could be. I am certainly going to try the nose plug out. I just shake my head that I didn't think of that. It would be more discreet than a face mask (which I would not consider wearing in public). I'll get one this weekend and let you know if it works. Funny how we seem to forget life's major rule, KISS, keep it simple stupid (I guess that's why it ends with stupid cause when you finally think of it you feel stupid lol). Will let you all know when I get my appt. in London. Kathy

Hi Kathy- Great news about your appt!! Good for you! Re: your EKG: If you get into reading literature on ATS you'll find some articles will include illustrations/reference diagrams of abnormal cardiac rhythms so you can compare yours to that if you're curious. I really hope they'll order you a holter monitor! that would be such a help diagnostically! You inspired me to take a peek online about nose plugs ,since you didn't think I was a nut. I've found there are loads of options that aren't that bad. Not only for swimmers, but for others who do water sports- kayakers,etc. ***some are available that you can insert into your nose- so if you're looking for discreet- it might be worth a try! There's one in Japan manufactured for allergy suffers that's insertable, but I don't know if you get this or something similar where you are . Well, keep us posted on your news! I am wondering if you'll have someone come w/you for your appt? Sometimes it's nice....also hoping you'll bring some really good notes, organized questions that are written down. I know it is an awful feeling to find you haven't brought something up that you feel is important, after the fact. Finally, is this physician experienced with ATS? If not, consider bringing a few basic medical articles, perhaps with the parts highlighted that you feel are relevant to your symptoms , but only if they are not an expert! It is a very fine line we walk between helpfully sharing information and offending a doctor! Often I'll say " Given the extreme rarity of ATS I don't expect to meet a physician who has had any patients with it, so I brought some reference materials. I hope that is ok with you. " Then if they actually do have experience with it, you can let them know how thrilled you are- as I imagine you genuinely will be! I'll be crossing my fingers for you! Loren NY/USA

Hi Kathy- Just wondering the name of the doctor you'll be seeing? I just heard back from Rochester, N.Y.- I asked them about the other centers for Periodic Paralysis and ATS they coordinate with . In Canada, it is Dr. Shannon Venance and Dr. Angelika Hahn in London, Ontario, Canada. Any chance that's who you'll be seeing? : ) 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

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 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)