CURE Support Group
  • Home
  • Meetings
  • About
  • Resources
  • Contact
  • Facebook Group

Meetings

Matthew Bainbridge, MSc PhD, Principal Investigator, Rady Children’s Institute for Genomic Medicine (Meeting August 12, 2017)

8/12/2017

0 Comments

 
Meeting Notes
  1. No diagnosis. What now? -  When tests come back negative, explore more testing, enroll in research, re-analyze data periodically as new knowledge is found and sometimes re-test is worth doing every 3-5 years.
  2. Research genetic testing – Apply to programs like the Undiagnosed Disease Network (UDN) or Centers for Mendelian Genomics (CMGs at Baylor-Hopkins, Broad Institute, University of Washington and Yale University). Use Google Scholar to find and connect with a researcher working in your disease area. 
  3. Pros and cons of research vs clinical – Research is low cost or free, more novel findings and may have thorough work up (UND). But very slow process that can take years. Keep in mind that research labs are not regulated like clinical labs are.
  4. Have a diagnosis? Now what? – Always ask if there now needs to be a change in care management? What clinical trials are available for the disease? Seek and reach out to a researcher in this field. Find a support group and connect with other patients/parents.
  5. Desperate but cautious – While exhausting everything possible to help your child, be careful. Do not waste money on treatments that are not available in the USA, not supported by science or your doctor thinks are not credible. Be wary of health fraud scams.
  6. The right test – There are many genetic tests available now. Have you had a genetics consult to go through results? Do you need more testing and will testing be approved or covered?
  7. Communications – Don’t give up on reaching out to doctors for testing or referrals to other programs. Talk to your genetic counselor. Don’t be shy to contact scientists working on your disease area. “Scientists are like bears they are more scared of you than you are of them.”
0 Comments



Leave a Reply.

    Categories

    All
    Care For The Caregiver
    Emergency Preparedness
    Events
    Finance/Legal/Advocacy
    Funding Equipment
    Genetic Testing
    Meeting Notes
    Mother's Day
    Rare Diseases
    Research/Registries
    School/Education
    Therapies
    Uplifting

    Archives

    February 2023
    January 2023
    December 2022
    September 2022
    July 2022
    May 2022
    April 2022
    March 2022
    February 2022
    January 2022
    November 2021
    September 2021
    August 2021
    July 2021
    May 2021
    February 2021
    January 2021
    November 2020
    August 2020
    July 2020
    June 2020
    April 2020
    February 2020
    September 2019
    July 2019
    May 2019
    March 2019
    November 2018
    October 2018
    June 2018
    May 2018
    February 2018
    January 2018
    November 2017
    October 2017
    August 2017
    June 2017
    May 2017
    February 2017
    November 2016
    October 2016
    August 2016
    July 2016
    May 2016
    January 2016
    October 2015
    July 2015
    April 2015
    January 2015
    November 2014
    August 2014
    June 2014

    RSS Feed

Powered by Create your own unique website with customizable templates.
  • Home
  • Meetings
  • About
  • Resources
  • Contact
  • Facebook Group