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.
As a person with familial MdDS I am very interested in the genetics/epigenetics involved with this condition. My only concerns about taking part in the registry are that I can’t remember the dates of all my episodes/remissions, can’t pinpoint exactly when I got permanent remission and don’t have full access to my family’s medical history. I do know that my symptoms were more severe after flight triggers (compared to train triggers) and that MdDS was seasonal for me.
Thank you for your question, Polly. We have planned for this and, without disclosing survey topics or questions, can tell everyone that every bit of historical patient data collected will matter, even if reported as “uncertain.” The surveys will employ branching logic (if this, then that), to guide participants and suss out nuanced details as much as possible. We promise, all data will be of value, from your individual trigger and seasonal observations to a pool of “uncertain” responses.
Thank you for this report and for all the great work you are doing to build the MdDS patient registry. I’ve been attending rare conditions meetings in the UK for many years now and nearly always hear from patients who have had difficult (and sometimes traumatic) diagnostic odysseys, […] I am aware that some women with MdDS have initially been misdiagnosed with FND and that the same thing has happened to other people (usually women, but not always) with other rare/less common conditions. I hope the patient registry for MdDS will help to speed up our diagnostic odysseys, improve the data about natural histories, give us a clearer understanding about why some of us get remission and others don’t and why some of us benefit from [an intervention] and others don’t. […] It will be interesting to see if the research into MdDS gives us more information about the genetic component in the future. I look forward to reading the second part of your report and many thanks again.
Polly
Flight (long haul+short hop) triggered in 2003.
Diagnosed during my second episode (train+car trip trigger) in 2006
Thank you for your perspectives, Polly. We are happy to offer this report and look forward to continuing to provide this type of advocacy for the MdDS community. We are encouraged by your efforts in advocacy as well, and wish you great success at the Genetic Alliance UK workshop.
My mdds resolved after 6 months of very severe and typical symptoms. Would I be of interest to the studies?
A resounding yes! Your data absolutely matters. This is exactly the type of patient data needed. Capturing symptom severity data will be a critical component. We aim to collect data from as much of the MdDS patient community as we can. Those with one episode as well as episodic. Those with low symptoms as well as severe. When provided longitudinally, patterns may emerge that illuminate aspects of the disorder that we were unaware of previously. Thank you so much for your question, Judith. We hope others are just as curious about if and how their data matters — because it does!
Thank you for this feedback ! And for carrying our voice. Concerning the genetic question, I would like to mention that my brother suffer from MdDS symptoms each time he travels. So we are two cases in the same family…maybe it could be an interesting case to mention or study ?
To study, for sure! Remember that the MdDS Patient Registry coming in the spring is a study. We hope that you join and answer the surveys. There will be one that collects patient medical history and family medical history. By collecting this type of data in a centralized location, available to researchers, the data will be more meaningful and powerful. Make sure to be subscribed to this blog, or the MdDS Foundation e-newsletter so you don’t miss out when enrollment is announced. We’re excited for spring of 2025!
Hi Aline,
I created a Facebook group for people with hereditary/familial MdDS several years ago to try to gather data about this rare form of MdDS. Yourself and your brother are very welcome to join it (sorry I don’t have a link to it) and donate your data. It would be great to see some case studies about this, for sure 🙂
Polly
Every patient’s experience has value, however we discourage participation in social media “data collection.” Anecdotal data given on a social media platform is not usable by researchers. Here is why.
National Institute of Health (NIH) protocols, to which the MdDS Foundation adhere, require each investigator (researcher) to have an IRB (Institutional Review Board) established for their work. IRB approval is essential to ensure the quality and integrity of the research process and its outcomes.
Having obtained an IRB for the MdDS Patient Registry, the data collected through it will be highly valuable to researchers, as they can have confidence in its validity. The more data collected in the MdDS Patient Registry (coming spring 2025), the greater its statistical stability and significance will be. And the better the health outcome for all in the MdDS community.
Those seeking advice and support may be interested in joining our online support group, on Facebook, called MdDS Friends. The support group is open to MdDS patients and one support person each. Everything you need to know about joining can be found here: https://mddsfoundation.org/support/
Thank you I am so grateful for this. I have been a patient with MdDS 24 years now . This is exciting.
We’re excited for spring of 2025, too! Together, we will change the trajectory of MdDS treatment and care.
Thanks for helping us all with Mdds.
Been dealing with this since 2008.
Quit working since 2008.
How do we get involved? Colorado Springs Co
Thanks for a great question! Some ways to get involved are: