Andersen Tawil Syndrome

[kattsqueen]

after a life time of pain and multiple problems i came up with my own diagnosis and am awaiting an appointment with specialists and discoverer of the syndrome for official diagnosis and treatment planning..MY diagnosis is Andersen tawil syndrome..Supposedly only one hundred diagnosed cases in the world..Probably twenty persons or more in my family suffering from it to one degree or another.  It is a type of hypo or hyperkalemia partial paralysis..A potassium ion channelopathy that can affect a person in many many ways..

1.sensory overload issues
2. attention deficit disorder
3. muscle problems muscles do not contract and relax properly as chemical messages are not carried correctly in muscle cells.
4. anesthetics do not work correctly due to this message failure. i have woke up twice during surgeries and have had my teeth drilled while tears were streaming down my face..
5.chronic pain issues
6.chronic fatique
7. heart palpitations and arrythmias and sometimes sudden cardiac death due to the depolarization of cardiac muscle cells (i was diagnosed with its aiyh syndrome because i was thirty when this started)
8.coordination and strength problems due to atrophy of the muscles involved
and so much more!! I am thrilled to finally have my answer more so for my family than for me as it is an autosomal dominant genetic condition that is passed down from one generation to the next. Treatment is possible with potassium supplements potassium sparing diuretics and heart medication as well as a potassium rich low starch diet. Salth and simple carbs are triggers for paralytic or weakness episodes.  karen.

[New28]

Don't count chooks before they hatch. I've had my diagnosis since I was ten...that was 19 years ago. All it took was a different application of the treatment. 10 years of oral capsules that cost my parents heaps. I tried suggesting injectable stuff, I was either told I had a good imagination or I was just laughed at.

3 months after I started treating myself, I have noticed incredible improvements in my moods and what I can physically do.

Even so, my idea means nothing to the medical doctors, I'm told it's only temporary and I'm increasing my risk of infection. If it's temporary, let me enjoy it while it lasts. As for infection, that doctor obviously never heard of antiseptics or antibiotics!

[ohtobehealthy]

I really hope something is found in the genetic testing. I am keeping my fingers crossed for you!! I have wanted to get genetic testing for some time but I dont know how to go about it.

And New.. I know the feeling there is nothing like the heartache you feel when you totally think you are given a diagnosis and then you go for the actual testing to get that final piece and it ends up being normal. Nothing like being set back to sqaure one. Its so devasting. Then there are some diagnosis' that have no cure.. however for me just having a diagnosis would mean so much at this point.

However hoping this is NOT the case for you Katt!!! keeping positive thoughts.. the hardest thing now is the waiting part. I know genetic testing results can take some time!! like a month or so? in the meantime we are here for ya! !

[Samantha]

Thanks for updating Karen  
I'm very happy you've finally received a diagnosis and hope the treatment gives you some relief

 
Sammy

[kattsqueen]

thanks every one i am feeling better in that iam able to change my diet and add potassium supplementation already,,Since ive done this my pain has decreased significantly and my foggy headedness is much improved.. the lab i am going to be working with is connected to some very important researchers and they will be doing the genetic testing for the rights to use my dna in their research..If it is not an identified gene which is possible they will be checking dna of family members both well and ill to identify the gene.. I am very lucky as there is interest in this condition as the doctors and researchers feel there is connection between this condition and many other conditions such as migraines, muscular dystrophy and other forms of ataxia and nuero conditions such as epilepsy,,sam many of your symptoms from my reading are similar to yours.YOU too  ohtobe healthy I wish you would do some reading on the conditions of hypo-hyper and normokalemia partial paralysis as well as andersen tawil..Muscular dystrophy association is supporting these condtions too..You can have normal slightly low and higher than normal levels of serum potassium levels and it is often not picked up in the blood work.. just read a little of the research and visit hypokalemia partial paralysis support pages for much more info..Some of kelias symptoms sound like they are similar too!! just check it out!

karen

[Samantha]

Karen you have no idea how much I appreciate you keeping us all updated   so many times I've read stories of undiagnosed illness and the follow up....welll there hasn't been any so I often wonder what happened ..............

I hope your testing goes well and you can start living life  
I've just done a quick search on this condition and no sorry does fit my symptoms at all... I'll keep on searching (my lipoma theroy may produce something in the future)

 
Sammy