My title here at the NFXF is the Director, Community Impact, but it’s not me who makes an impact…it’s all of you! And that is why I am writing today – to talk about your impact this year (you know, the one that is almost over, and the end still can’t come soon enough).
I like to talk about #pandemicPositive – there is plenty that has been hard(er) this year, but we have also seen lots of good. So, I polled my fellow staff members for some examples of the impact we all made this year through your support.
For starters, we work hard every day to engage new families. Every day someone is diagnosed. Every day people come to our website looking for answers. We want them to know we are here and that there is a lot more to the Foundation than online resources on Fragile X. We are a Community. These might be newly diagnosed families or families that have been living with Fragile X for decades that are just now connecting to the NFXF – or even just now connecting with another Fragile X family. I think back to the family that came to DC for Advocacy Day in February. They have three children with Fragile X syndrome, two of whom are in the 20s, and they had just connected with other Fragile X families for the first time last fall at the NFXF Connecticut Chapter education conference. They were elated, enthusiastic, and sponges for information with a desire to be involved. It was inspiring! Your support made that possible! This is one example of the thousands of families that are new to the NFXF this year. Imagine the possibilities for 2021.
One way families connect with us is by asking for help – it might be very specific, such as toilet training, or it might be, “My doctor says I am a carrier of Fragile X, what does that mean?” Enter Jayne Dixon Weber, who works with each of these folks individually to get them the answers they seek and to be a shoulder to lean on. It is rewarding to see these families helped! Was Jayne one of your first connections to the NFXF? Your support (and Jayne’s dedication) makes that possible.
But not everyone wants or needs one-on-one support, which is why we offer resources such as Fragile X 101, Research 101, and Adults with Fragile X Syndrome. The latter two are new, free e-books released in 2021. These serve as resources for families at all life stages, like one mom, who after reading Fragile X 101, responded by writing, “Wow, I am a mom with 3 Fragile X adult children, and it is so nice to see so much happening in the field!” Or another parent who said, “I cannot wait for the next chapter” of the Adult book (which is coming in a week or so, BTW). The impact stories I shared so far focus on helping today. But there is hope for tomorrow, too. Hope in the research. Are you one of the 100s of NFXF Advocates who help advocate for Congress to fund Fragile X research – $40M+ each year? Thank you! You are making an impact.
Research funding is vital, but that is just the first step. Studies need participants, data, and a sound, scientific method. Your support of the NFXF is making that possible. We have a whole new section of the website for our research work. But I do want to touch on a couple projects I am personally very excited about. This month, the International Fragile X Premutation Registry was launched. This is a first and will be a tremendous resource as more and more research is done to help carriers.
Next – we secured a Patient-Focused Drug Development meeting with the Food and Drug Administration (FDA). The FDA approves all drugs, and the purpose of this meeting is to hear from patients and caregivers to help guide future drug development in Fragile X syndrome. There will be a final report that summarizes the meeting, helping researchers design more patient-centric and effective treatments. The FDA only authorizes one PFDD meeting per disorder, so this is our chance to ensure patient insights are included in the future. We hope you can join us on March 3, 2021. Check out our PFDD page.
Finally – and this has been a long-time coming – the NFXF’s Data Repository will soon house all of the clinical data from the STX-209 (arbaclofen) trial. This will be available for researchers to use, learn from, and develop treatments. If you took part in the original trial, look for an opportunity within the next month or so to reconsent so that your data can be shared. You will make an impact, again!
I could keep writing. And writing. But, I should wrap up.
Know this – the Fragile X community quickly drew me in nearly four years ago with your passion, love, support for each other, and drive to make lives better for everyone living with Fragile X. Oh, and the self-advocates are pretty awesome, too!
We work for you, but we can’t do what we do without you! Your impact this year was incredible – and you helped setup 2021 to be even better.
We all wish you Happy Holidays!
P.S. I know I said I was done writing, but I should touch on all of the support the entire community provided as we had to adapt to COVID. Thanks to the providers who stepped-up with dozens of videos and articles to share on our COVID page and to the 100+ speakers who made the 17th NFXF International Fragile X Conference Virtual Series possible. If you couldn’t make it, we just put up 19 sessions (20+ hours) of content, on-demand, free to you. Watch them here.