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tiramisu

New member
Joined
Apr 30, 2013
Messages
8
Reason
PALS
Diagnosis
04/2013
Country
US
State
CA
City
Lake Forest
I got diagnosed with probable ALS today by neurologist who did EMG/NC test. My dad had ALS and died 2008 after a year since his diagnosis. I am so scared. I have to wait to see an ALS specialist now. I can't sleep. I can't stop crying....
 
First I am so very sorry you are entitled to grieve for a time. Once the shock wears off you will see that you still have a lot of life to live. Assuming your als specialist agrees with the diagnosis I expect he or she will recommend genetic testing if you have not already had it. The good news is they are starting to develop targeted gene therapy for FALS. They just reported out on a phase one trial for sod1 if that is what you have maybe you can get into a phase 2 trial when available
The same type of therapy is being developed for c9orf72. Another thought is just because your dad was a fast progressor does not mean you will be. My family has had wildly different courses of disease
Again I am sorry but there is ho pe antisense technology for the genetic component and stem cell therapy for allcforms
 
Thank you for your reply. I am so so scared because I watched my dad suffer through the disease and it is still fresh in my mind. It has been a long waiting process to see doctors. I have to wait 2-3 weeks to see the ALS specialists. I understand. I just don't know how I am going to go through in the mean time.....
 
Again I am so sorry. One day at a time and start doing everything you want to do.
I really do understand. I don't have als yet but my chances are 50 percent in less than 5 years 94 percent in less than 25 and I am currently watching my sister going through ALS. It is horrible horrible horrible and waiting for your appointment must be a nightmare
I will be thinking of you
 
Oh dear, I am so sorry. My thoughts and well-wishes are with you! I'm in the same boat as Nikki J (though aren't we all in the same boat here) and the waiting must be awful. I hope you can find the things that make you happy and do them constantly. Hopefully the wait for the doctors will be worth it and they'll be able to provide you with some comfort.
 
Seeing the ALS specialist in UCSD tomorrow. I can't seem to stop being in fear.
 
I hope your appointment is productive and gives you some direction. If you can let us know what happens
 
He gave me a confirmed diagnosis. I don't know what I am supposed to do next.
 
I am in a lot of pain.... Wish this can be better controlled.
 
I am so very sorry. Have you had genetic testing yet? If you are SOD1 they just finished a hopeful phase 1 trial of antisense technology so phase 2 should be coming up. If I were you I would want to jump on that. C9 orf72 does not have that technology yet but they are working on it. If you have not been tested get it done as soon as you can so you will be ready for a trial when it is announced

I know you are in shock and grieving much as you expected this. You are entitled but don't get stuck in this phase. As soon as you can get your life in order and then start doing everything you want to do

Take care
Nikki
 
No that was recommended not for the clinical trial but just to document for the family since I have a sister and a nephew and future more. Does the ALS clinic be able to help me with that? I imagine my primary doctor has no clue.... When they tested for my dad after he died, they said it was the SOD1 that he carried.

Thank you Nikki for always being here for me.
 
So you are presumably SOD1 too. The phase 2 on the antisense is not set up yet but I would definitely keep an eye on it. Are you at a major ALS clinic? Even if you are I would keep an eye out for clinical trials myself there is clinicaltrialsdotgov where they are listed, and I would sign up for the NEAL'S site and visit it often to see what they are saying. If you facebook there is a FALS group you might want to join.

Hang in there
Nikki
 
I was seen at UCSD ALS Clinic and will go to see UCI ALS Clinic next Friday. UCI is physically closure. Do I ask them about clinical trials or is this something I need to pursue?

Nikki,
How is your sister going through all this... I am mentally defeated right now.....
 
YES BY ALL MEANS be sure you are registured on national als registry and indicade you are a trial volunteer. that allows researchers to contact you
 
UCI is Irvine? Their clinic is "certified" according to the NEALS website. NEALS is a consortium of ALS experts.

If you want to do clinical trials ( and I would) definitely ask but it might pay off to research things yourself. It depends on the clinic how forthcoming they are. A member here goes to a very respected medical center clinic but had to seek out a clinical trial even though he asked they did not tell him about it.

This is very hard I know. I think it is worse when it is FALS we know the journey AND we worry about our siblings children cousins etc. my sister is very brave and she has a lot of support. Right after she was diagnosed she planned a lot of trips. You don't know what your progression will be but better to do what you want now because you don't know. I hope you have good supports too

Take care
Nikki
 
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