Gould Syndrome COL4A1/COL4A2 Projects
"Learn from yesterday, live for today, hope for tomorrow. The important thing is to never stop questioning."- Albert Einstein
The Gould Syndrome Foundation Director, Sheena McGee became Board Certified in Patient Advocacy Spring 2019. The BCPA is able to help families learn to advocate, provide tools in coping with medical diagnosis globally, and to navigate the insurance companies in the United States. We are looking to add to our advocacy committee, if you have advocacy experience and are willing to donate time to the Foundation please email us: email@example.com
Global Registry for COL4A1/COL4A2
Our Global Registry is now up and running for Gould Syndrome COL4A1 and COL4A2. Our Survey is IRB reviewed and HIPPA regulated through REDcap. We had a Professional Research Investigator develop and monitor it. Please access it here: https://is.gd/COL4A12
The Gould Syndrome Foundation is working with labs and hospitals across the United States to lower the cost of genetic testing for symptomatic persons and their family. Another immediate test we are working to educate the medical community on is COL4A1/ COL4A2 (and/or Exome Testing) upon Stroke.
August 2018 COL4A1 Foundation was accepted into NORD as a member of the Rare Disease community, placing COL4A1 on the map as an orphan disease with approximately 100 known published cases. In 2019, we changed our name to Gould Syndrome Foundation to encompass both COL4A1 and COL4A2 Genetic Mutations.
Gould Syndrome Foundation operate as a small group of committed volunteers, advocates, and researchers. We are funded fully by the generous support of loving family, friends and allies of those with this rare disease.
We gather information from our approximately 200 Gould Syndrome affected friends and family in a Hippa Regulated Global Registry. The Global Registry provides anonymous information in a quantitative manner to Scientists, Doctors and Researchers, in hopes to find therapeutic modalities and medical interventions.
If you or a loved one has received the Gould Syndrome COL4A1 or COL4A2 genetic diagnosis, please fill out our survey here:
NORD Summit 2019 "The Time is Now"
Nord annual Summit was October 21st-22nd and Gould Syndrome Foundation was a "Member Organization Scholarship Recipient". We received a full ride to attend and travel to the event which lead breakout sessions in marketing, advocacy, and connecting and networking with hundreds of other rare disease organizations.
Dr. Doug Gould's Research was exhibited in a poster for over 4,000 other rare groups, medical researchers, pharmaceutical companies and partners of Rare Diseases to view.
Gould Syndrome COL4A1/A2 Awareness Day April 12th 2020
April 12th 2019, marked our first ever COL4A1/A2 Awareness Day. Our awareness color is yellow. Please share your support and awareness on April 12th every year!
Rare Disease Day Feb. 29th 2020
Join Gould Syndrome on Rare Disease Day #RareDiseaseDay #ShowYourRare on Feb 29th 2020, raise awareness, host a fundraiser, contact us for more info in sponsoring Gould Syndrome Foundation!
For more on Rare Disease Day https://rarediseases.org/event/rare-disease-day-2020/
Supporting Gould Syndrome Foundation
Our grassroots 501 (c) 3 non-profit started in 2018 as family, looking to help connect our small community of COL4A1/A2 members with the medical community for therapeutic/medical interventions and medical and scientific awareness.
We have a volunteer based Board of Directors, Medical and Legal Advisory Board and unpaid Staff. One hundred percent of your donation will go to funding our mission to provide advocacy and awareness to the medical and affected community alike. Support our mission by donating today.