Thanks to a generous grant from NORD (National Organization for Rare Disease), Jen Coughlin, NR2F1 Foundation President attended the 3 day 2024 NORD conference in Washington D.C. This years theme was ‘Equitable Access to Innovation’.
Jen shares her experience:
The benefit from attending and representing the foundation at conferences like this is multifaceted. It gives the opportunity to continue to raise awareness of NR2F1 and BBSOAS in the rare community. There are 10,000 known rare diseases. Unfortunately that’s not us, BBSOAS is an ultra rare disease.
That means we have to work even harder to be heard and seen.
Attending gives me an opportunity to meet other Patient Advocacy Groups in the rare world, to swap stories and hear how they are tackling similar challenges to us. Such as engaging with our community; fundraising and identifying the best research to spend our hard earned cash on which will return the most insightful learnings and bring hope for our BBSOAS strong and how to get work done with very little resource. It is also a time to be inspired, from hearing of the miracles happening in the world of gene editing.
It is also a chance to hear from industry leaders in research and pharmaceuticals and to learn what’s most important for us as an organisation to focus our energy on. This year I was especially grateful to spend time with Dr Terry-Jo of COMBINEDBrain and Jason from Matrix, the company behind our Patient Registry. Having that face to face time is precious.
Two key themes came out loud and clear to me this year:
- We must continue to build our Patient Registry – over 3 days I cannot count the number of times presenters said ‘natural history studies are absolutely critical’. We need to be able to demonstrate the symptoms and progression of BBSOAS. It’s key to for a few reasons – as we are still learning everything we need to know about BBSOAS, having your insights and evidence of how BBSOAS effects each and every individual helps our scientists and researchers learn more about the condition. Critically as we identify potential treatments, we must have a history in order to be able to measure impacts of potential drugs and treatments. Clinical trials rely on having data to show the effectiveness of a drug or treatment. While I acknowledge we do not have a trial yet that we are entering, what came across is that if we wait until we do, we will be too late. We need your help now to have this ready to go, we need to be equipped and ready to show researchers, scientist and pharmaceutical companies that we are ready when an opportunity comes.
- Biomarkers – Similarly to the Patient Registry, biomarkers are becoming increasingly more important. This time last year when we came together with our Scientific Advisory board in Denver to create our 3 year research strategy we debated over this topic. I am glad to say in 12 months we have made significant progress, thanks to you, our community. During 2023 and 2024 we have asked families to take part in the COMBINEDBrain Biorepository, by donating blood and urine samples. These samples have been made into a huge data set and we have just awarded a grant to Dr Laugsch at Heidelberg University, where this data our our BBSOAS community will now be analysed to identify trends, patterns and ultimately biomarkers. This has been a significant investment of $30,000 from the foundation, but hearing this come up again and again made me grateful that we the NR2F1 Foundation, together in partnership with COMBINEDBrain, have followed this path. We will of course share more in time when we have results from this project.
On a personal note, as a Mum of a little girl with BBSOAS I can’t help but feel when I attend these types of events, that I wish I wasn’t there. I hate being there. I wish live were different for Edith and our family, and that she didn’t have to suffer the challenges and obstacles that she battles with so courageously on a daily basis. I find myself wishing that BBSOAS were just ‘rare’ and not ‘ultra rare’. So many thoughts and emotions run through my mind during these days away from home. But I remind myself by staying home and trying to pretend its not happening, it wont bring change for Edith, or any of our BBSOAS community. So instead I try to refocus those feelings and turn them into energy and motivation to not stop trying, because Edith and all our children deserve the best we can offer them. And with that I have left the conference with a long list of to do items for me and the NR2F1 Foundation board (sorry team – even more work coming our way!).
I text my family on Sunday as I was arriving and said ‘I’ve just landed in DC in the sunshine, and am excited for the few days ahead. I hope I leave feeling inspired and motivated’. As I sit on the plane home to Houston, excited to go and kiss my sleeping girls, I can tell you I can tick those boxes and more. I’m inspired, motivated, and tired!! So I’ll get back to my desk in a day or two and get started on the newly grown to do list and in the words of one of the presenters, I’m ready to continue our ‘Roar of Rare’.
Best,
Jen – NR2F1 Foundation President and Edith’s Mum
PS. Do you want to help with our to do list? If you would like to get involved with any of our work, please reach out. The day to day of running the foundation is done voluntary by a few of us and we always need help. Drop me an email if you’d like to see how you could get involved. (Quick bit of sightseeing while in DC!)
Carlie is the Vice President of the Board of Directors for the NR2F1 Foundation, a registered 501(c)(3) non-profit organization dedicated to those living with rare mutations on the Nr2f1 gene.
With a B.S. in Special Education and a M.S. in Counseling, Carlie has worked at EPU Children’s Center as a Resource Specialist serving parents of children living with disabilities and then directed a parent leadership group for disability advocacy through storytelling and public speaking.
Carlie lives with her husband Jeff and their two daughters, one of whom has the rare Nr2f1 gene mutation, in Royal Oak, Michigan. She wants all Nr2f1 families whose lives have changed dramatically to know they are not alone.