Part 1 of 2
Before heading to the annual conference, I shared on Facebook, “Am proud to represent the MdDS Foundation and MdDS Friends at the NORD Summit in DC.”
I wanted the support group, MdDS Friends, to know that I would be wearing two hats to the conference: one as an officer of the board of directors, and one as a patient just like them. I don’t think it’s always clear that everyone on the board of directors is both a Patient Advocate and a Patient Ambassador, i.e., working on behalf of others while being a patient themselves.
Once the conference began, I began to realize a significance of being a Patient Ambassador.
According to the National Organization for Rare Disorders (NORD), most rare disorders are genetic or have a genetic component, around 80%. Over 900 attended the summit, and probably 80% of the people I met said, “I’m the parent of a child/ren with a genetic disorder.” We don’t have any research showing that MdDS is anything other than a central vestibular (neurological) disorder, so MdDS was a rare disorder among the rare represented at the conference. Attendees who were a patient themselves were definitely underrepresented. I hope that changes next year, when NORD brings the Breakthrough Summit back to DC. Please be the change you wish to see. Mark your calendars for October 20-21, 2025, and start planning on how you can add your voice so more people know about MdDS. Alone we are Rare. Together we are Strong.
NORD Patient Registry Leaders and Members-Only Meetings
The very first meeting was of NORD Patient Registry Leaders. The MdDS Patient Registry in development will be customized specifically for those with MdDS. This has never been done before. The MdDS registry will be a research study and, like all qualified research, has a Principal Investigator (PI) and an Institutional Review Board (IRB). There are also two advisory boards, which are committees comprised of healthcare professionals, patient advocates, and patient ambassadors. The individuals and the varying levels of expertise they bring to the registry will be featured in upcoming newsletters. Are you subscribed? CLICK TO SUBSCRIBE
One goal of the MdDS Patient Registry will be to understand the natural history (or progression) of MdDS over time. Using easy-to-complete questionnaires or surveys, the registry will be longitudinal (repeated over time). The need for natural history data was echoed by many speakers at the summit. Information from them is critical to advancing diagnostics, and I think we can all agree that faster, more accurate diagnosis is something we all deserve. Beyond the diagnosis, longitudinal data also plays an important role throughout drug or therapeutic development, from discovery to clinical trial design.
“Patient registry data is a critical tool that enables researchers (and investors) to do what they do.” ~Heidi Ross, MPH, Vice President, Policy and Regulatory Affairs, NORD
Doctors absolutely need and want natural history study data in their toolbox. Every Registry Leader I spoke with told me that they struggled with lack of patient participation when their registries were new. But over time they were able to close knowledge gaps and begin collecting disorder-specific data. And their database of patient data has made a difference in their communities, easing diagnostic odysses and even leading to treatments. Help the MdDS Foundation help you! When the MdDS Patient Registry goes live, what would prevent you from participating? Are you afraid of research? Do you have trust issues? Do you think your data won’t make a difference?
Tell us your concerns now—leave a comment below. The MdDS Foundation will take every measure possible to answer your questions, close the gaps, and meet your needs.
As already mentioned, the environment was heavy with genetic disorders, so there was emphasis on gene therapy, bio-pharmaceuticals, and pharmaceutical solutions. These aren’t currently applicable to MdDS but who knows? Maybe research will bring us to a point where those things do matter, so I attended meetings about drug approval and patient access, and how investors see the rare space. Spoiler alert: They’re excited about it and the innovations associated with rare diseases! The novel approach taken in rare research has the potential for clinical application in many common disorders.
While it is premature to truly understand drug development processes, the educational resources are there to take advantage of, and to utilize once the MdDS patient registry data has laid the foundation to pursue medication research and development. But MdDS will not have drug treatments without first having a knowledge base of patient-provided data. So stay subscribed, and be among the first to learn when the MdDS Patient Registry is live and ready for you to join.
I hope you’ve enjoyed Part 1 of my summit report. In Part 2, I’ll give you a list of Breakthrough Summit resources that you can take advantage of immediately.
Thanks for reading,
Holly Balog, Board Director
Flight-triggered, Dx’d 2007
P.S.: Don’t forget to comment with any questions or concerns you have about the new MdDS Patient Registry.