November 28, 2013 at 2:24 pm #75125Andersen Tawil Syndrome
I have been diagnosed with ATS for a couple of years now, but a couple of weeks ago my youngest daughter was also diagnosed, it was a big shock! Only a couple of months ago whilst taking my other daughter, (whom I always guessed had it), to see my neurologist I declared that the only one of my kids that doesn’t seem to show symptoms is my youngest Lucy!
Apparently she had been collapsing and having weakness and pain but didn’t want to make a fuss and thought that muscle pain was just normal?
Whilst getting over that shock ( well when I look back the signs were there, i did tell the GP year’s ago that she was having difficulty brushing her hair, but as usual I was dismissed as a neurotic mother!) i had to have my emg tests re-done, I’d told my neurologist that I’m becoming permanently weaker by the month, he dismissed this as not that common in my condition ( WRONG!) but I was still surprised when the tests confirmed myopathy in all four limbs, Damn! I can here an electric wheel chair beckoning?
Thats why my scapulars are winging and my arms and legs keep sub luxing! Why don’t doctots even good ones listen more?
It’s heart breaking to let my daughters and my son also symptomatic see me deteriorate as they will know what is in store for their own future.
The worst moment has been on the way home from my daughters consultation, the penny dropped with her as we discussed what a diagnosis means, she said ” so that means that I won’t be able to be a Air Hostess ? Please don’t say that mummy please don’t take my dreams from me! I will cry!” and so we did and still are!
Well we’ll just have to get on with it, thats definitely 3 out of 4 kids with it now and the youngest boy to go, he has mild symptoms so far. As I told my OT when begging for help to get a more suitable house , it is not my fault that the doctors didnt diagnose me in time, and that this condition doesn’t stop us breeding
I would like to chat to any other families with this condition on here?
Take care! XNovember 29, 2013 at 4:07 pm #92380Re: Andersen Tawil Syndrome
This is rare one !
Really hope you can find people to relate too here, but it might take
a time to find ones with Anderson Tawil.
Welcome back anyway.
"Even if you are not paranoid, it does not mean they are not out to get you!".taungfoxParticipantPosts: 4,630Joined: 27/09/2010November 29, 2013 at 4:39 pm #92381Re: Andersen Tawil Syndrome
What a low time you are all having. My dreams were shattered by MD, and many of my favourite skills take away too. It tests our resolve and somehow one day you realise you are stronger than you all first thought.
Feel free to borrow our experienced shoulder to off load
I'm always the animal, my body's the cage
I blog about nothingness www.amgroves.comAMParticipantPosts: 4,751Joined: 05/03/2015December 10, 2013 at 5:15 am #92382Re: Andersen Tawil Syndrome
i’m sorry to hear about the about the struggles that you and your children are having. i was diagnosed with andersen-tawil about 20 years ago, when i was in my mid-teens. i went through years of ups and downs with A-T, long stretches of dealing with varying degrees of paralysis–the worst episode of which was on my 21st birthday, when even my tongue was paralyzed–with the occasional day when things didn’t seems to bad–although, looking back, they were pretty awful.
i tried everything my neurologists suggested–dietary restrictions*, medicine that seemed to to more harm than good, etc.–and none of it seemed to make too much of a difference. my GP recommended that i take a potassium and magnesium aspartate supplement. adding that supplement to the medicine i was already taking was not a quick fix, but lessen the severity of the paralysis and give me enough strength to build up muscles that had weakened due to the A-T.
over the course of a few years, i began increasing the amount of exercise i got and trying different exercise regiments that addressed the muscles that gave me the most problems–legs and arms. i still keep up those exercise regiments today, and it is to those that i give credit for my improvement.
as for penny’s dream of being an air hostess, tell her not to give up on it, ever.
i’ve spent enough time talking about myself thus far, but i will quickly say something about dreams. i grew up skateboarding. i was not just a kid who picked up a skateboard here and there when he was bored, i was obsessed with skateboarding. i practiced constantly, studied the history of skateboarding, and tried to learn as much as i could from watching others skateboard. A-T struck me when i was in my teens, and it took skateboarding away from me–it’s hard to ride a skateboard if you can’t walk! on those many days and nights i spent lying in my bed because i did not have the strength to get out of it, i dreamed of riding a skateboard again. i didn’t want to be the best in the world, i did not want to be a professional. i just wanted to be able to do the thing i loved again.
20 years later, weather permitting, i go out and skateboard either by myself or with my daughter at least a few times a week.
nothing is impossible.
*i’ve never benefited much from suggested dietary restrictions, but i have found that eating large meals trigger episodes.Brad78ParticipantPosts: 1Joined: 10/12/2013December 16, 2013 at 10:41 pm #92383Re: Andersen Tawil Syndrome
Thanks for getting in touch.
I too was quite active when I was young albeit in shirt bursts, I was a gym instructor amongst other things, i didn’t know tgen why I had no stamina.
My daughter is called Lucy not penny She definitely won’t be able to be an air hostess now with this diagnosis as it bars her by the Airline rules, but she could work in the Airport.
I see you have a family too, has any of your children inherited it?
I try exercise too but if I over do it I pay big time, U tied swimming over the last few years, but it worsened my shouldres and now I have wasted and weakened shoulder girdles. I guess it affects us all differently, I also have Myopathy due to the frequent attacks, do you have Myopathy? How come the medics don’t understand that it really does affect our tongues etc..
I go to the National in London to see Prof Hanna do you have a good Neuro? Have you been genetically diagnosed? I ‘m hoping that they can find our mutation.
Your right about the diet and medications nothing seems to really help!
Take care & keep in touch!May 28, 2014 at 12:16 am #92384Re: Andersen Tawil Syndrome
Hi I know its late and I should be asleep. I have just registered tonight. My name is Mike I have had ATS all my life but was not officially diagnosed until I was 40. I am 45 this year. My father had the same but sadly he died in 2003 when he was 72 and never got to have his MD named. My son is clear of it but has Aspergers syndrome. Has anyone found a diet that works well for them? As I have said I have coped all my life but still I am learning what is good for me and bad for me. Any advice or suggestions would be nice.
Mike HowardMikehoward1669ParticipantPosts: 1Joined: 27/05/2014December 4, 2014 at 4:45 pm #92385Re: Andersen Tawil Syndrome
I would like to say nice to meet someone else with a weird condition too even if it is bad taste lol! you know what I mean.
Did you know that Aspergers can be part of our condition? My daughter has Aspergers as does a few others in my family, I know of quite a few people with. Aspergers & ATS and a mixture of in their family.
Have you been on the PPA site or the HKPP site?
Take care, all the best ShellybearFebruary 9, 2015 at 3:10 pm #92386Re: Andersen Tawil Syndrome
So Sorry for the delay in replying I have just had to re-register again. It’s funny you should say that about Aspergers & ATS. I have believed for years that I have some form of Aspergers which is why I stick the kind of work I do as a Family Carer Support Worker, also I am very fixed in my views and likes. Maybe it’s just part of me but does make you think. I have looked on the PPA & HKPP site but to be honest have not gained too much as yet from it. I have always had ATS but it took of 40 years to know what type of MD/PP I have. Likewise its nice to know in a weird sort of way there are a few more people with this condition. I shall use this forum more often.
Again sorry for not getting back sooner. All the Best MikeMikehoward69ParticipantPosts: 1Joined: 09/02/2015November 3, 2019 at 5:53 pm #182596Reply To: Andersen Tawil Syndrome
My sister has been diagnosed with Andersen Tawil Syndrome. Is anyone able to help with the below points please?
– Which UK, EU, US and other associations focus on this syndrome?
– If there are no associations or bodies solely for this specific syndrome what is the nearest organisation governing or providing information or advice?
– What are the main treatment centres worldwide?
– What type of medical specialists deal with this type of syndrome?
– Are there any emerging treatments or promising drugs in the pipeline?
– Are there any clinical trials worth considering?
Any significant web links would be much appreciated.
D. ManDzhambulatParticipantPosts: 0Joined: 03/11/2019
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