Lighting the Way to a Cure

  • Financials
  • Patient Library
  • Blog
  • Calendar
FSHD Header Logo
mobile-logo

  • Who We Are
        • About Us
          • History
          • Mission
          • Our Team
        • Our Impact
          • Therapeutic Accelerator
          • Education
          • Advocacy
          • Our Partners
        • Journey To A Cure
          • 2022 Donor Impact Report
  • Understanding FSHD
        • What is FSHD
          • Symptoms
          • Diagnosis
          • Early-onset FSHD
          • Genetic Testing
        • Living with FSHD
          • Newly Diagnosed?
          • Finding Care
          • Symptom Management
          • Patient Library
        • FSHD University
          • Physical Health
          • Wellness
          • Research
  • Get Involved
        • Support Us
          • Ways to Give
          • Become a Torchbearer
          • Raise Awareness
          • Volunteer
          • Fundraise
        • Advance Research
          • Patient Involvement
          • True Cost of FSHD Study
          • Clinical Trials
          • Donate tissue
        • Connect
          • Find Your Local Chapter
          • Join the Community
          • World FSHD Alliance
          • Online Communities
        • Events
          • Walk & Roll to Cure FSHD
          • Events Calendar
          • FSHD 360 Regional Conferences
          • FSHD Connect Conference
  • Research
        • For Patients & Families
          • Advance Research
          • True Cost of FSHD Study
          • TestFSHD genetic testing
          • Clinical Trials
        • For Researchers
          • Apply for a Grant
          • Research We Have Funded
          • Resources
          • Int’l Research Congress
        • For Clinicians
          • FSHD Masterclass
          • ICD-10
        • Global Collaboration
          • Therapeutic Accelerator
          • Clinical Trial Research Network
          • Drug Development Pipeline
          • Project Mercury
  • News
    • Media Library
    • Blog
      • Living with FSHD
        • Health and Medicine
        • PT and Exercise
        • Tips and Tricks
        • Mental Health
      • FSHD Society News
      • FSHD Research
      • Fundraising & Events
      • Media & PR
    • FSHD Society Radio
    • The FSHD Advocate
  • JOIN US
  • Donate
  • JOIN US
  • Donate

It’s Time To Act: Take our Genetic Test Survey

Home / FSHD Research / It’s Time To Act: Take our Genetic Test Survey

Posted on: Dec 12, 2019

The Future is NowWe are entering a time of great hope for individuals with FSH muscular dystrophy, as new treatment approaches target the root genetic cause of the disease. But this means that people will need a genetic test for FSHD in order to participate in clinical trials and to be prescribed these treatments (once they get approved by the FDA).

We need to know more about your experiences with genetic testing so that we can help companies and academic researchers who are working to improve genetic tests.

The currently available genetic test is based on decades-old technology called a Southern blot. The technique is time- and labor-intensive, and so the cost is high, around $2,000 to 3,000 per test. If your insurance does not cover the cost, that’s a big hit to the wallet—even more so if you have other family members who wish to get tested. Even if finances are not an obstacle, many patients have difficulty finding a doctor who is willing and able to order the testing.

Understanding the Genetic Testing Experiences of EVERY Patient is Important. Click on the link below to participate in our survey.

Take our survey

The current approach to genetic testing is only set up to provide a yes-no answer to the question, does this individual have FSHD? But scientists would like to collect more genetic information to see if they can find other variations in genes that could explain disease severity.

Right now, this type of analysis is only done in research labs and requires a separate study, patient recruitment outreach and re-doing the original genetic testing from scratch. If more comprehensive analysis could be done during routine diagnostic testing, it would not only save time and resources, but it would provide invaluable information from the get-go. It might help us better predict the course of the disease in specific individuals. It could reveal new strategies to treat the disease.

This is why the FSHD Society is partnering with companies and academic researchers to validate new technologies for diagnosing FSHD—faster, cheaper, and more completely. As one of the key projects of our FSHD Therapeutic Accelerator, our genetic diagnosis initiative is a no-brainer. It will benefit patients and families directly while bringing important new scientific insights.

 

Share

Filed Under: FSHD Research

Comments

  1. Gale busa says

    December 18, 2019 at 1:20 pm

    I tried to get genetic testing but couldn’t, have a strong family history of Fshd, mother had it and sister has it and all mothers siblings had it, along with my grandfather, couldn’t get approved for Fshd 2 testing, but would like to offer my blood for research, have some facial weakness, and I am 60 years old, but is mild,

    Reply
  2. Maureen Williams says

    January 3, 2020 at 8:54 pm

    I received my diagnosis Of FSHD some 30 years ago, with a muscle biopsy. Last year i had genetic testing (spit test). This was inconclusive about which type of
    Of FSHD. I was not aware there is more than one kind of FSH. I will go ahead with the blood draw test. I would like to know if this qualifies me for a clinical trials? I will be 75 this year, Am I too old?

    Reply
    • jkinoshita says

      January 9, 2020 at 2:03 pm

      Good for you for wanting to volunteer for a study. Oftentimes, clinical trials of experimental therapies do have an upper age limit (typically 60 or 65), but important clinical research studies such as the ReSOLVE are open to people up to the age of 75. You’d need to inquire to find out if you would be eligible. We certainly encourage you to try!

      Reply

Leave a Reply Cancel reply

Your email address will not be published. Required fields are marked *

SEARCH

Categories

  • FSHD Research
  • FSHD Society News
    • Extraordinary Measures
    • Journey to a Cure
  • Fundraising & Events
  • General
  • Living with FSHD
    • Health and Medicine
    • Mental Health
    • PT and Exercise
    • Tips and Tricks
  • Media & PR

Sign up for Email Alerts

Stay up to date with the latest FSHD news and updates from FSHD Society.

CONNECT WITH US

Proud Member World FSHD Alliance (1)
Footer-Logo-min

General Mailing Address:

75 North Main Street, Suite 1073
Randolph, MA 02368 U.S.A.

Mail Donations to:

Department 960
PO Box 4106
Woburn, MA 01888-4106

(781) 301-6060

  • DONATE
  • Donate
  • Join Us
  • Inclusivity & Equity
  • Privacy Policy
  • Contact Us
  • Glossary Of Scientific Terms
Digital Marketing by