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St. Louis Ataxia Support Group Recap – 12.12.20

Submitted by Shannon Dunphy Lazo

 

Happy Holidays, everyone! We’re glad you were able to join us on Saturday. As people arrived, they were greeted, serving as a mini-introduction. 

To those who were not able to attend: remember that Zoom is an excellent way to attend without having to worry about commuting/transportation, getting around, and planning. Meeting virtually is the best alternative right now to keep us and our loved ones safe.

Carol T read our Mission Statement:
The mission of the St Louis Ataxia Support Group is to support and meet the needs of the St Louis-area Ataxia community, through education and awareness, fundraising for research, social support, and sharing and learning tips and strategies for coping with Ataxia.

GUEST SPEAKER

In the interest of time, we jumped right to our guest speaker. Dr Christopher Gomez’s bio goes into more detail, but briefly, … Several of us can attest that Dr Gomez is one of the best! Unfortunately, there is no Ataxia specialist in St Louis, so Dr Gomez at the University of Chicago is the closest ataxia doc and super knowledgeable. He’s also on the NAF’s Medical Advisory Board. We are very fortunate to have him join us.

In our Q and A with Dr Gomez:

Strategy

  • Stop the aggregation process
  • Finding how to turn off genes
  • MR Spectroscopy – Dr Oz at Univ of MN
  • Assessment
  • Need better characterization of Ataxia
  • Target protein (Ataxin 1, Ataxin 2 …)
  • Can measure protein in blood

SARA Score 

  • Scale for the Assessment and Rating of Ataxia, (Scale for the Assessment and Rating of Ataxia (SARA) – Physiopedia (physio-pedia.com) ) 
  • Want to prevent it from getting worse
  • Depends on:
    o Which doc assigns SARA
    o What day/time of measurement (ataxians have good and bad days and good/bad times of day)
    o SARA score may vary 
  • Because of these 3 problems with assigning SARA score, have developed a(n electronic?) tool to measure coordination 

Vaccine

  • We should get the COVID vaccine ASAP!
  • We should get in touch NOW with our doctor 
  • Ataxia is not immunological

Clinical Trials 

  • Biohaven trial – wrapping up at end of year 
  • Cadent trial – will start soon 
  • Promising- Ataxin 2 for ALS; SCA2 can benefit

Genetic Testing

  • Good
  • At UChicago
    o $500 out of pocket- tests for ½ of types of Ataxia
    o $1350 out of pocket- exome testing -560
    o All no contact
    o They will send you a cheek swab kit (to your home)
    o Many places do this testing, like Athena Diagnostics
    o But testing at UChicago is one of the best in the country
    o In a way, waiting or delaying getting tested was okay because the testing is more advanced now
    o Genetic testing from years ago may be old
    o Getting tested now is better than it was

Why Genetic Testing?

  • To not be in the dark
  • To know which cheering section to be in
  • Test for repeat expansion

Dr Gomez

  • Knows in depth about all types of Ataxia
  • He also specializes in SCA 6
  • Last year, tested the family members of Stephanie in KC, who have SCA 6
  • Mark J mentioned that he has SCA 6 and that mother was Japanese and had SCA 6 too; Dr Gomez was interested (SCA 6 is ‘common’ in the Japanese population)
  • Dr. Gomez recommended that people locate an Ataxia clinic near them to find a good neurologist
  • He knows them all and can suggest specialists in Ataxia and a certain type; just ask him
  • For example, Dr. Ashizawa is in Houston, Dr. Chip Wilmot is at Emory Univ (Louisiana)
  • CRISPR
  • Knocks out genes in animals
  • Star Trek approach
  • Might hit wrong gene

CRISPR

  • Knocks out genes in animals
  • Star Trek approach
  • Might hit wrong gene

Stem Cells

  • NO !!!
  • Even farther out thereFar-fetched

Supplements

  • Yes- multivitamin with antioxidants
  • No proof for anything else like taking MG
  • Fatigue- not just in Ataxia, he doesn’t know why
  • CBD- nothing proven, It seems to help with pain, sleep, seizures

Misc

  • If one member of a family has a certain type of Ataxia, it is extremely likely that anyone else in that family with Ataxia will have the same type (ex: Hank and Carol T, siblings, probably have the same type of Ataxia)

Action-COVID Vaccine

  • Contact your local doc NOW
  • Ask about procedure

Action-Genetic Testing

  • Call to set up a telehealth visit with Dr Gomez
  • This will make you a patient of his
  • Then he can order the excellent genetic testing of the University of Chicago
  • Remember it’s one of the best in the US
  • Remember that they’ll send you a cheek swab kit
  • No need to go to Chicago!
  • How to contact Dr Christopher Gomez
    • Ph #: 773-702-6222
    • Email: gomez001@uchicago.edu

Scratch-Off Tickets

  • Carol T asked each person to choose a number between 1 and 40.
  • Later, Carol T and Bill drew numbers for the drawing for the scratch-off lottery tickets.
  • Congrats to Cindy, Joan, Karen, Robert, and Mary! Carol T will mail the scratch-offs to the winners.

Member Profile – Mark G

We want to know more about our members!

  • Mark lives in a house in Kirkwood
  • He has SCA 3, and it runs in his family
  • Dx’ed 20 years ago
  • Did genetic testing through Athena
  • Was tested for SCA 1, 3, 7
  • Mom was never tested
  • He was first in his family to get tested
  • Biggest issues- slurs and has vision problems
  • Had strabismus surgery and wears glasses with prisms
  • (Beckie and Bob have had that surgery also)
  • Daughter Peyton is okay
  • Wife has renal failure
  • Likes to read but falls asleep

Show-And-Tell – Naomi

Naomi showed us and talked about her new Life Glider

  • Her husband, Jared, helped and videoed her so we could see while she used the Life Glider
  • Very important to use the ‘seatbelt’
  • Should let you get around hands-free
  • She likes:
    o It’s lightweight
    o It’s easy to fold
    o It has hard wheels
    o She’s had it about 6 months
    o Jared says she is more independent
    o At lifeglider.com , you can see the Life Glider, find the price, and order it
    o It runs from $700; can buy a refurbished one for less

Show-And-Tell – Beckie

Beckie showed us her Cubii JR

  • It’s a small portable elliptical machine
  • Helps keep her active even if she can’t go out or going out is hard
  • To see the Cubii, see www.cubii.com
  • For pricing and to order and to see the different types, go to https://www.cubii.com/products/ellipticals
  • Please go to web site if interested

Volunteers

Thanks to Mark G and Naomi for being good sports for the Member Profile and the Show-and-Tell segments. I hope that these can continue. Can you volunteer for either one? No preparation needed! Please let me know by the end of the year if you can help! In 2021, I’ll volunteer someone.

 

ICYMI

MEMBER PROFILE
Let’s get to know each other!
o Each month, we’ll hear from another member
o The member might talk about her initial diagnosis, how old he was, did she find a good neuro, what mobility aids does he use, how did she find out about our support group, who is in his family, what was/is her profession, …
o It’s quite informal and no prep is needed.

SHOW-AND-TELL
Is there something you can share?
o At every meeting, someone will show the group something – a gadget or scooter or something to put shoes on or a utensil holder, etc. – that makes life easier.
o Now that we are meeting virtually, it’s a good time to show something large or installed that you can’t take to an in-person meeting. For example, you can show your bed or wheelchair van or exercise equipment. A photo of you using _____ would work too.

Announcements

  • Our next meeting will be next year, on January 9, 2021.
  • We’ll use the same Zoom link, and I’ll remind you later.
  • Our guest speaker for January is Beth Templin from HouseFit, the region’s only certified Balance Wear therapist. She’s a PT and will talk about the vest and staying active.

Other Support Group News

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