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Caper

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Genetic Testing

Hi Heather

I had my blood tested, due to having an Aunt who had passed away from ALS 30 years ago. I come from a large family and no other cases as of yet ( thank God). The test did two things. First it confirmed that I had ALS, tested postive for the SOD 1 mutation. Secondly, it identified the mutation as a SOD 1 ( I 113 T) . This knowledge tends to be received with mixed comments. Some family members want to get tested, others have said they would if they start noticing any problems. You may have the mutation and never develop ALS over your lifespan. However, you would have a 50 % possibility of passing this mutation to your children. You can also have the fetus tested.

If you are the only know case in your family, then genetic testing is not for you.

Steven B.
 
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hwbissegg

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That is really interesting about the genetic testing. I didn't know that they had pinpointed a mutation for ALS. I actually don't have anyone in my family who has had ALS, so I guess I don't need to get it done. But I do wonder why they don't do that test on patients to confirm diagnoses. I guess it's probably because it's very expensive, but it would certainly give many patients piece of mind to have an actual test done that positively identifies ALS. Maybe it would help people accept it better, but who knows...it's difficult to deal with no matter what!
 

Al

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That test only identifies the familial gene. It is not a test to specifically identify ALS in the sporadic type which is what 90% of the people get. Dr Cashman in Vancouver Canada has developed a new blood test that shows promise for diagnosing ALS but it is still being perfected. AL.
 
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Jeannie

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Hi everyone, sorry for late reply, Heather.

I'm Jeannie, I was 22 at onset June 2000, diagnoseded July 2001 now 28 and still got plenty of fight left in me. I have tried many treatments and regimes, non of which I can say really helped me apart from stem cells back in 2003, but saying that I dont even know if it the cells that actually helped.

I wont pretend ALS is a easy fight because it isn't, the one thing you do need is courage to fight the darn thing and by the sounds of it, you have plenty of it :)

Take care, Jeannie xxx
 
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beanie

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beanie

Hi...I am totally new here to this site, so please bear with me. I am 27 years old and have had cerebral palsy since birth. My CP left me unable to walk w/o assistance of walker all my life but I never let the CP hold me back. I am now a college graduate in 2004 and in October 2005 I was given a diagnosis of ALS in addition to my CP. I know I could hardly believe it myself and have had quite a rollercoaster year trying to figure it all out.

I have had numerous tests, EMGS, neurology consults and have had one physician say my CP was reactivated (which is not possible), and another said it was some type of progressive neurolgic disease but not sure what...my present neurologist is still sticking with ALS diagnosis but the two other physicians say that are not "comfortable" labeling it that due to my age and the CP. I have been struggling what all this means, but in the meantime since last June, I now am unable to eat solid foods, taking mostly liquids and soft pureed food. We have had a stairlift installed since I cannot do stairs and now have ordered motorized chair. In the past months, i have had PT, OT, speech therapy.

I never would have dreamed this would be happening to me at this age, but am surely glad to find someone else my age going through possibly the same things. Please let me know what suggestions anyone has as I try to figure this all out and the physicians continue to advise me just to deal with symptom treatment on a day to day basis.

I am sure glad to find this group and maybe I can find some support in talking with others going through alot of the same. Hope to hear from you all soon....in the meantime I continue to keep a positive attitude and take one day at a time....
 

Al

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Hi beanie. Sorry you have to be here with a double crappy diagnosis. Glad you found us though. Sounds like you have your stuff together with the right attitude. Jump in whenever you want to vent, tell a story, laugh with us, cry with us or just hang out. We do it all here. Take care. AL.
 

gilly

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twitching?

hi there.
my aunt was recently diagnosed with als. since i heard the news, i've been logging on to any website possible for more information... which is not very much. this disease is such a mystery. i had no idea. i live very far from my aunt so the best i can do is send her "fun" packages everyday... which i have been doing!

what i am wondering right now is about some of you describing twitching as a symptom of als. that scares me. i have twitching in both of my legs any time i am sitting down or lying down for bed. is this a common symptom? i don't want to jump to conclusions but after reading so much about als, i am scared now not only for my aunt but for me. should i have these twitches checked out? what type of doctor would i go to? i hate to sound like a hypocondriac (spelling?!?!?) but i never paid much attention to my twitches (which have been happening for about a month) until i read some of your notes.

thank you for all of your inspiration. i read the postings almost everyday and i am in awe of your strength and spirit.
much love, nicole
 

hwbissegg

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Gilly,
Well, yes, twitching seems to be a pretty major symptoms of ALS. But I wouldn't worry about isolated twitching. Mine came after months of fatigue and gradual loss of strength...the twitching just made me realize something was really wrong and I wasn't just getting old! Anyhow, there are other conditions that can cause twitching, such as a problem with your thyroid. There is also a condition called benign fasiculation syndrome, where someone just has constant twitching. Plus, it is normal for your muscles to twitch sometimes, especially after working out. So I really wouldn't worry unless you develop some other symptoms. I hope this helps! Best of luck!
 

gilly

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:)

thank you so much for your response and the info. i am sure it's nothing and i am just a little overwhelmed learning about als and my aunt's condition. what a frustrating disease. i wish i could do more for her or you or anyone with als. ugh! i have lots of hope for her though. a girl i work with, her aunt has been living for 30 years with als. and doing quite a lot! guess this is one situation where "fighting" is a good thing.

thanks again for replying so quickly. i am thrilled to have found this forum and hear the stories of such incredible people! i will be keeping in close touch.
 

hwbissegg

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Toes Curling

Just wondering if anyone else has problems with their toes curling...it makes it very difficult to put my shoes on!
 

kazzy

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Hi Heather

Long time no speak! How are you going apart from curly toes? What a shocking time it's been for you you must still be in shock being diagnosed at such a young age. I can tell though that you aren't one to give up on life and I bet you are making the most of every day and probably appreciating life more than you ever had! It's a shame it takes something like this to make us realize how precious life really is.

As you know I don't have any firm diagnosis with anything yet I have been given the runaround rollercoaster and they are now calling it an "upper motor neuron condition?" I have the curling toes thing but it's not all the time it comes and goes. Fun Hey?!:-?

Keep on powering on girl :mrgreen:
 

xsparklingwinex

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Hi Heather,

My name is Holly. I have ALS. I am 24 years old. I was diagnosed at 22. If you have any questions feel free to post or leave me an email. I'm sorry to hear of your diagnosis.
Love, *Holly*
 
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