diagnosed dad/ genetic test

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New member
Jun 21, 2021

My dad was diagnosed with Bulbar ALS 64 years old. This forum kept me busy for hours congratulations on everyone here sorry we all have to join under this circumstances.

We have my dad at the University of Miami ALS center. I am inclined on having him do the genetic test since looks like research is more advanced on familial ALS. does anyone have experience with GENEDX or Invitae testing? or do you recommend any other for the test? I cant seem to find a test for the ATAXIN-2 gene any recommendations? I do understand that given his age its more inclined to be sporadic but one must try. His mother had Alzheimers dont know if this helps.

his disease has advanced incredibly fast so we worry he wont get accepted in any research which we would very much like to have a little hope at least. We have been reading a lot about the Healey platform and Biogen trials.

I have him in riluzole, theracurmin, L-serine, Elysium basis and starting with tudca/Sodium Phenelbutryte today. Edaravone was not started since his progression wont have him quialify for insurance however I did find a European company that sells it for much cheaper called thesocialmedworks wonder if anybody has experience with this? or any opinions on Edaravone?

thank you in advance.
sorry about your dad. I am surprised U miami didn’t offer testing. Ask them which lab they use. ATXN2 shouldn’t be hard to find in a testing panel. I had a full panel for a study several years ago even though I am known c9 and it was in it.
I believe invitae doesn’t test c9 which is the most likely scenario

you shouldn’t have to figure this out yourself. Drs Benatar and Granit are active in FALS research. Who does he see?
Natybaez- I also use UA Miami als clinic. My first visit was with Dr Benatar, he ordered genetic testing right off. What Dr is your father seeing? If he's in clinic he's probably seeing Dr Granit. If your using my chart send a message to either Dr about your concerns. Any time I have a question I contact them that way and usually get a response by the end of the day.
Hi Nikki thanks for reaching out yes, he is with Dr. Granit who recommended GENEDX however I dont see the ataxin2 in the tests he recommends.
the test is the one below and the other its just for C9
I would like the ataxin2 but it doesnt appear in the test or maybe I'm mistaken.

he also mentioned a compound pharmacy for the sodium phenyltyrate since for us with insurance it comes at $3900 monthly do you have any experience with this? and how to take the powder he seems to hate the taste we gave it to him with baby food and the tudca pills from nutricost are huge he was able to take them though.

I also have appointments in Mayo Clinic Jacksonville and Mass General for a second opinion and trial opportunities since Healey in UM has a waitlist of 30 pp. I was hoping to have the genetic testing results before the appointments since it could open different trials opportunities if he qualifies.

I'm really trying to do everything we could do that can give us some hope and not give up as long as my dad wants to fight.

Thank you very much!
Hi Lisa thank you for reaching out.

I forget how small the ALS world is yes we are with Dr Granit are you from Miami? are you participating in any trial? I will ask him about the ataxin2 why I dont seem to find it in the test he recommended genedx for testing.

He also mentioned a compound pharmacy for sodium phenylbyrate I dont know if you are taking this ? or have any input?

Thank you!
Natybaez - no I'm not in Miami more up towards Pt St Lucie. Dr Granit is excellent, I'm very comfortable with him.

Unfortunately, I was diagnosed 2 1/2 years ago at least 3 years symptomatic so I don't qualify for the trials.

Dr Granit had written a prescription for sodium pheynlbutyrate unfortunately my insurance wouldn't cover it. I am taking 2,000mg of tudca daily.
Lisa sorry to hear that. We just met with him recently for the first time and he really took time with us to go over everything we appreciate it a lot. But of course its never pleasent to hear from Drs there is only so much they can do or anybody can.

I bought tudca from nutricost are you taking the pill or powder?
hi again. Ask Dr G about it. It has a couple of other names I think though none of the list rang a bell when I looked

MGH is fabulous and very research oriented. I did hear them say a while back they were full for Healey at the time. They have a couple of Healey trial dedicated people who help answer access questions. I will try to look up their info for you and message it. They also have weekly update webinars and archived webinars with details.

I have no sodium phenylbutyrate experience. Both my sister and I used compounding pharmacies for methylcobalamin and found them excellent. mine was recommended by my neuro
I'm taking tudca in pill form. I break it up during the day 750mg after breakfast, 750mg after dinner and 500mg before bed.
Sorry to hear about your dad. From what you've said, it doesn't appear likely that your dad has a familial form, so you might want to focus time and energy on SALS trials, of which there are some good ones as you mentioned.

Riluzole 50mg twice daily
Curcumin C3 complex 2g twice daily (Costco)
Ginkgo Biloba twice daily (Costco)
TUDCA (tauroursodeoxycholic acid/taurursodiol) 1g twice daily (Nutricost)
Sodium phenylbutyrate 3g twice daily, or 2g three times daily
Acetyl L-Carnitine today, 1g 3 times daily

I use Nutricost TUDCA in powder form, 25g per container. I fill my own capsules which is a pain, size 000 90% filled is about 0.5g. When I take it in power form with water, the taste is terrible and no amount to mouthwash can remove the aftertaste. I found taking a spoon of pain yogurt gets rid of the aftertaste. The measuring spoon that comes with the container does not give you 0.5gm, but 0.25gm. I got my neurologist to prescribe sodium phenylbutyrate in tablet form and is covered by insurance. I am waiting on my results from the genic panel, it has been a month so far. I am 68 male and diagnosed with Bulbar and left side weakness a month ago.
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