Ataxia

 I’m in the middle of a huge fight with my sister.  She sent me a very ugly email where one her issues is that I never open my windows. This stuck in my craw, not for the nastiness of the email but for the ignorance that many have about our condition. I can’t stand up.  You need to stand up to open the windows.  I wish I could open my windows.  I live in Florida and it would be lovely to open the windows on cool days, but I can’t.  And I don’t need ignorance making me feel bad about that. I’m sure there are a host of assumptions that able-bodied people make about us.  Please think before you speak.  You may be hurtful.  But maybe that was your intent. There are several instances of this.  The best thing that we can do is tell people what you can and cannot safely do.  Education is the key and ataxia is so rare that even doctors can be uneducated about it.  Sadly, it falls on us to be educational ambassadors.  I know we hav...

  You might think, from these postings, that I have the greatest ataxia attitude ever.  But I have my days.  Today I can’t stop crying. This is an incredibly difficult thing to deal with.  Everyone with ataxia (unless they’re in complete denial) has days like this.  Today all my advice about meditation and exercise is out the window.  It’s a grieving day. Some of you may have gotten annoyed with my happy talk.  Please read my posts on Rage, Suicide, Depression.  Happy talk?  As Sheryl Crow said, “No one said this would be easy.” I have no advice for days like this.  They happen.  I just need to ride this out.  I bought black-out shades for my room so I’m going to my dark hole.

I hope you all are doing well. I was just checking up on ataxia trial news. If you ever want to check out what is going on yourself, google  clinicaltrials.gov  and just type in SCA6 or whatever disease you are interested in into the search box. Doing this reminded me that the PRIME-Ataxia exercise study is recruiting. This study allows remote participation (flyer attached). I also listened to a video about how the first FDA approval of a medicine to help with  Freidrich's ataxia  came about. In the video, the company scientist described the importance of having a robust disease life history database and patient advocacy. https://www.ataxia.org/fda-approves-first-treatment-for-friedreichs-ataxia/ The FDA recently the FDA announced approval for  SKYCLARYS  (omaveloxolone) for the treatment of Friedreich’s Ataxia. This is the first and only FDA-approved prescription medicine for Friedreich’s Ataxia (FA). NAF is thrilled about this announcement and proud ...

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  I realize it has been a little quiet on the science and research front, but I hope those of you who attended the NAF conference enjoyed it and saw some progress. I just did a PubMed search on SCA6 and came across this summary of gene suppression studies in SCA mouse models.  https://www.mdpi.com/2073-4409/12/7/1037 They chose Dr. Gomez's manuscript to review (...because it is the best... Pastor, P.D.H.; Du, X.; Fazal, S.; Davies, A.N.; Gomez, C.M. Targeting the CACNA1A IRES as a Treatment for Spinocerebellar Ataxia Type 6.  Cerebellum   2018 ,  17 , 72–77. ) and wrote this: The  CACNA1A  gene encodes both the α1A protein (pore-forming protein) and the α1ACT protein (transcription factor involved in cerebellar development) [ 39 ]. A polyQ-expanded α1ACT protein is responsible for SCA6, with the α1A protein being essential to life. Therefore, the selective silencing of α1ACT would be the desirable approach, in contrast to full  CACNA1A  ...