Forum Replies Created

  • georgi

    Member
    June 27, 2021 at 2:59 am in reply to: Should I get genetic testing?

    @David “So, is there really sporadic genetic non-familial ALS?”

    Yesterday I stated something similar and my post was removed.

    @Kikki Could you provide more info on how to send blood to Berlin for NFL tau. I still have a diagnose only by a single neurologist (EMG) and every mimics incl. MG was excluded. As I can still climb stairs I have no dx by a NM Center.

    WRT my ALS panel – they could not find my mutation among 22 known genes. I should probably look for more comprehensive panel. Any advice by any member is appreciated.

     

    • georgi

      Member
      June 28, 2021 at 11:38 am in reply to: Should I get genetic testing?

      Today my genetic professor told me in her practice sporadic always becomes transmitted to children and that chance is much higher than 50-50 like the faulty gene is more “sticky”. She also told me it hits earlier. Let me hope she is wrong. Let us hope they will find cure for the next generation.

  • georgi

    Member
    June 16, 2021 at 6:56 am in reply to: When getting a second opinion comes with risk

    I think the wait time between symptoms and diagnose makes people desperate. This is the only disease that physicians wait until full blown symptoms appear. Their inactiveness is not accountable based on their belief that there is no cure anyway. If only they make 2 careful EMGs in 2 months period and compare the neurogenic changes in same muscles they would make diagnose. ALS community should raise awareness which could potentially translate to clearer medical requirements on neuromuscular doctors. (Gap exists)
    Secondly, there is a debate (CALS vs PALS) in the forum on whether PALS should share their own symptoms with people looking for diagnose opinion. I believe that both CALS and PALS could share their own experience as it is clearly stated this is not a diagnose.

  • georgi

    Member
    June 15, 2021 at 5:50 pm in reply to: How do you define an ALS cure?

    Early genetic testing to everyone and establishment of database will enhance understanding of ALS. Biomarkers as neurofilaments and MRI for positive ALS testing should replace the current diagnostics by exclusion. These kind of measures will lead to better treatment and possible prevention for those at risk.

    The Italian trial using MRI to show more cortical thinning among pALS treated with Edaravone proves that the time of EMG and 1 year diagnose latency should be over soon. The current lack of treatment is no excuse for such procrastination.

  • georgi

    Member
    July 1, 2021 at 4:55 pm in reply to: Should I get genetic testing?

    Hi Kiki, I sent mail to both Charite and the Hospital in Ulm to request NFL/tau test or at least information, none of them responded. Do they work with international patients?

  • georgi

    Member
    May 19, 2021 at 2:39 am in reply to: Should I get genetic testing?

    Hi Kiki, I am 52yo Bulgarian with strong and fast advancing symptoms started approx. on 1 Jan 2021. I am pretty sure that the developed EU countries offer gene testing payed by the healthcare system. I was working in Belgium (currently on sick leave) and still have active med insurance there. I was offered a gene testing in AZ Brussel, blood samples were taken, but 1 day later the gene professor called me that testing will be suspended as I have no final diagnose. The MND doctors from UZ Leuven called him to stop my test as diagnose was not established. I also found a private gene lab in Germany called GeCaT. I sent my blood there, but this testing is paid. 85 euro for C9ofr72 and 1300 euro for another 20 ALS related genes in a 2=step approach. This testing is also relatively slow, each one taking 2 months (this is what I was said).  As you are young and a native german citizen I am almost sure you will be offered a free gene test in Germany.