Thank you

[henrylbrt]

I'm not sure this is the correct section for this.

Hi there,
this is my first post on the forum. One of my aunts died a few years ago from FALS (which we thought was sporadic at the time), and another one of my mom's sisters has just been recently diagnosed.

I have been very worried and sad for my aunt; and I've also been scared about my mother's health, my brother's, my uncle's and cousins' and obviously my own one.

I'm lucky to have the support of friends, a loved one and a very large family.

But this forum has especially helped me cope with my fears and maintain a positive outlook.

Finding some peace here has allowed me to better support my relatives.

I just wanted to thank you all for your amazing work, I am not exaggerating when I say it has made my life considerably better.

I'd really like to find deeper words to express my gratitude. I really do keep you all in my heart.

 

[affected]

That's beautiful Henry, but I'm very sorry to hear of a second Aunt diagnosed, I can't imagine the extra burden of FALS.

This is an amazing place, because of so many amazing people here indeed!

 

[Nikki J]

Hi Henry

I am sorry to hear of your aunts and that you are a FALS family. I understand very well worrying about family members.

Is genetic testing of your aunt possible? There are treatments coming for some forms of FALS. It is extremely possible preventive treatments may be close behind. To take advantage one would need to know the genetic defect in your family. Knowing the defect can only help. You are already aware that there is genetic risk. An identified defect gives you the option of testing now or later if treatments are available. If there are no living affected relatives testing is extremely problematic

 

[henrylbrt]

Hi Tillie and Nikki, thank you both for you reply.

It is a burden, yes. But in some regards we've always been prepared for this moment and it seems to me we're all avoiding our previous mistakes.

My aunt has been tested Nikki, thank you so much for your concern and advice! It's how I learned about FALS. When my other aunt died I assumed it was sporadic, as did most of my relatives, but this diagnosis and a bit of digging in our family history obviously said the contrary. She's also considering clinical trials... Do any suggestions come to mind?

Henry

 

[Nikki J]

Is she in Italy too? What is your family defect? If it is Sod1 there is a sod1 gene blocking trial underway though not in Italy. There is a site in the UK and maybe one on the Continent I forget... If she is in Australia there is a trial there that looks promising for sod1 copper metabolism. It is about to enroll
Check clinicaltrials.gov for her location ( it has worldwide listings) to see what is available for general ALS. There are no gene specific trials for any of the other defects yet

 

[henrylbrt]

Hi again Nikki,
sorry it took me so long to get back to you. Things have been evolving.

Sadly my aunt has a defect that isn't SOD1. Genetic testing was done in Cagliari and Turin.

Do you have any other recommendations? I deeply appreciate your help.

Henry

 

[Nikki J]

Did you search clinicaltrials.gov to see what is available in your region? There is no other gene specific therapy. I have c9. I did find a lab study where a researcher THEORIZED based on the mechanisms of action TUDCA ( a supplement) might help c9 specifically. Tudca was found to be mildly beneficial in a small study of general ALS patients. Sorry there is hope for treatments for other forms of FALS in the future. Not now and from what I hear ( hope this is wrong) not soon

 

[Duker52]

Nikki, I am also C9 and was just reading about TUDCA today. I was trying the Lunasin regimen on my own, but have stopped because of the extreme grittiness and the additional liquid in my liquid-only diet was too much. Are you taking TUDCA and if so, are you experiencing any improvements? I'm willing to give it a try. Bill

 

[Nikki J]

I do take Tudca. I am not able to take the full 1 gram twice a day as in the study and recommended by my neuro though as it upsets my stomach. I have very slow progression so who knows?

Are you in the c9 study at NIH? It is just down the road from you. If not yet, please please look into it. After almost three years they are only about 1/2 enrolled. The study people are wonderful!

 

[Duker52]

Nikki, I'm not aware of a C9 study at NIH. Do you have a link to it? I'm going to order Tudca from Amazon now. Which brand do you take? Bill

 

[Nikki J]

I sent you a pm with the study link.
Tudca. Think Olympus brand. The bottle says turns men into demigods which always makes me laugh!