In July BBDF’s Principal Scientist, Dr. Danielle Kerkovich, and I attended the Batten Disease Support and Research Association’s (BDSRA’s) annual conference in Chicago. This event is always a great way for us to connect with families in-person and we were happy to get to visit with many of you and meet your kids.
While at the conference we had the pleasure of going to dinner with two very special sets of parents. The Currans and the Phillips are on the opposite ends of their journey with juvenile Batten disease. Nick Curran is a healthy 23 year old and Hudson Phillips was just recently diagnosed at 6 1/2 years old. Our conversation made me realize how important connecting with other affected families can be and I would like to facilitate more of that for CLN3 families. The Currans and Phillips shared nutrition strategies, anecdotes about symptoms and siblings, and asked Danielle many questions about research opportunities. I was humbled to see how much responsibility these parents feel to make sure their kids are comfortable and happy in the absence of any medical or scientific guidelines. I believe just talking to each other gave them confidence and a feeling of support and encouragement to continue making decisions that are in the best interest of their kids.
Though I think there is nothing better than visiting face-to-face, I know that attending the conference is not feasible for everyone. BBDF supports a Facebook page, a Batten Map, and the Batten Blog. We’ve developed these tools as a way to help more JNCL affected families connect with one another. I encourage you to use them – like us on Facebook, comment and share; add your family to the Batten Map so we can show strength in numbers; and follow us on the Batten Blog and please send us information to post and share–your own personal stories inspire others. If you have other ideas, please let me know how we can facilitate connections.
One of the reasons Danielle and I attended the BDSRA conference was to connect with families in a very specific way. The Phillips and Currans and many other JNCL families participated in a research project while at the conference. BBDF is funding a $0.5 million project with the New York Stem Cell Foundation to create iPS stem cells, a tool that will allow researchers to conduct experiments on actual brain cells with juvenile Batten disease. This is a game-changing discovery. Click here to read more about how it’s done and why it matters. We rely on affected children and their parents to provide skin punch biopsies to create these cells and so many families were willing to do that. We are grateful for their participation. This project wouldn’t be possible without them. If you are interested in participating in this research or have questions about it, please email me.
That was a lot to cover. Thanks for reading through and considering ways to connect with other families and participate in research opportunities. You are the reason we exist and we are committed to finding a cure for juvenile Batten disease. Stay tuned for exciting announcements in the coming months. And please reach out to me any time with ideas, suggestions, questions or concerns.
Wishing you the very best,
Mary Beth Kiser | President and CEO
Beyond Batten Disease Foundation