Kindly provided by Craig Benson
How is your daughter doing? What are the biggest changes and challenges for Christiane, you as parents, and her brother (home, school, friends)?
Craig Benson: We feel very fortunate that Christiane seems to be progressing a little more slowly than some. While she is in the seventh grade now, we are fortunate in that she has not encountered any seizures yet. Our main challenges at the moment are her vision loss and some loss of short term memory, and some of the behavior and cognitive declines. It has been pretty subtle and what I would consider mild by comparison. We feel very blessed and fortunate in that regard. She loves school and she loves to play at home with her brother, they have a good relationship.
Despite the disease progressing and taking its toll, what amazes you most in terms of how Christiane is coping and fighting the disease?
Craig Benson: What amazes me most about how she is coping with and fighting the disease is that she is tremendously independent and a very determined little girl.
For example, this year she decided she wanted to try out for cheerleader and she practiced and was able to make the 7th grade cheerleading squad for her middle school. She is incredibly excited to be part of the cheerleading squad and is able to participate and support her school. It provides both a great activity and some good friendships for her. She also continues to take horseback riding and piano lessons. She is truly an inspiration to all of us. She doesn’t let any of her limitations hold her back from doing what she enjoys doing, and I think that is something we can all learn from.
Christiane with her parents Craig and Charlotte Benson and her brother Garland
Kindly provided by Craig Benson
You started the Beyond Batten Disease Foundation to find a cure and facilitate diagnosis to try and eradicate CLN3 e.a. rare diseases: looking back - are you happy with the major achievements, so far?
Craig Benson: While we will never truly be happy until we eradicate this terrible disease, I have to say that we are pleased with our achievements thus far. This quote by Saint Francis of Assisi resonates at BBDF, “Start by doing what's necessary; then do what's possible; and suddenly you are doing the impossible.” We have made so much progress over the last few years. We have accomplished so much with the coordinated support of our communities and relationships and partnerships with groups all over the world. And, with our partners, like NCL-Stiftung, as we sit here today, I am more hopeful than ever that we are going to be able to make the impossible possible and cure this disease.
We’re very proud to say that BBDF-funded studies to identify drug targets have resulted in top-tier publications cited over 1,500 times, to have co-sponsored the very first drug discovery meeting in JNCL with NCL-Stiftung, and to be creating the first human brain cell platform for drug screening in JNCL.
For both BBDF and NCL-Stiftung, the only clear measure of success will be to cure JNCL. In the simplest terms, this will require the identification of the best drug target, matching the target to a drug, and conducting clinical trials. In the last 6 years, BBDF, together with NCL-Stiftung, has identified multiple drug targets, initiated large-scale screening efforts to pair those targets with existing medications, and is preparing for clinical trials by identifying ways to measure disease progression in response to medications.
In your view, what should be done to accelerate finding a cure?
Craig Benson: While competition to publish in the best journals is an important driver in any field of disease research, there is clearly a disconnect between published findings and translating those discoveries into treatments within the Pharmaceutical sector. Surprising to the general public is that student and fellowship training in science does not include how to determine which discoveries are pharmaceutically actionable and university researchers do not have access to funding, tools and other incentives to translate actionable discoveries. The system relies wholly on Pharmaceutical Industry interest in treating a disease or foundations like BBDF and NCL-Stiftung to lead their own charge. Incorporating rigorous pharmaceutical science into research training programs, rigorous, systematic evaluation of “druggability” of emerging discoveries and translation incentives will take full advantage of scientific talent, save money, save time and ultimately, save lives.We have to keep pushing forward the most promising projects and programs, for a treatment or cure, as fast as possible. We also have to provide the tools and some of the other critical components of ultimate clinical trial success, such as biomarkers, patient registries, etc.
Kindly provided by Craig Benson
Regarding facilitating diagnosis, what is the current status of your carrier screening program?
Craig Benson: I’m proud to say that the test that we developed in conjunction with Children’s Mercy Hospital in Kansas City is now available as a diagnostic test, under the brand name TaGSCAN. Currently, it is not available as a carrier screening test, but hopefully that will be developed sometime soon in the future.
The BBDF and NCL-Stiftung have been collaborating for years to fight the disease. Where do you see the greatest added-value?
Craig Benson: We have always considered NCL-Stiftung, the NCL foundation, as one of our favorite and most like-minded partners; we have consistently worked closely together with NCL-Stiftung to drive good science and quality projects. We have always valued both the scientific input and the strategic input from Dr. Stehr and Dr. van der Putten. From the first time I met with Mr. Husemann, I could tell that we viewed the strategy and the way to combat this disease in a very similar way. It has been very encouraging for me personally, as well as for our organization, to be able to work so closely with such a high quality organization. And, to share common goals and objectives and to work literally on a weekly basis together with regular calls and meetings to make sure all of our projects stay on track. It’s been a very valuable relationship for us; one that we certainly look forward to continuing into the future until we successfully beat this disease.