In the middle of August, I had the opportunity to spend an afternoon in Chicago meeting with a group of people from the world of rare diseases. Biomarin invited a group of us to meet to discuss genetic testing in our world of rare epilepsies.

Biomarin has been in our world for a while now. They are a small biopharmaceutical company that focuses on therapies for rare genetic diseases. They invited a group of parents and advocates to spend the day talking about genetic testing. Biomarin facilitated the event and had representatives of rare epilepsies similar to KCNQ2 such as SCN2A and DUP15Q. In addition to specific genetic diagnoses, there were syndromes like Lenox-Gastaut and infantile spasms that were represented, as well as people from the larger world of epilepsy like the Epilepsy Foundation and Citizens United for Research in Epilepsy (CURE).

Our conversation was about how to increase genetic testing for rare epilepsies, especially in younger patients. More genetic testing means more diagnoses and earlier diagnoses. Larger numbers of diagnoses mean more patients and more information for our communities. We benefit in two ways; having a better sense of what a specific rare epilepsy can look like and having more cases for the medical community to see in treatment. Earlier diagnosis of a rare disease is a huge benefit to both patients and the community at large. It leads to both better outcomes and cheaper lifetime cost of treatment. In other words, there are a lot of reasons for us to want to find genetic epilepsies early and often.

Seeing our old friend Leah Schust from FamileSCN2A is always wonderful. Our two diagnoses seem like siblings, with so many similarities in so many of our kids. I also got to meet a lot of new folks from places like the Tuberous Sclerosis Alliance, CURE and the Batten Disease Research & Support Association. Just like working with the Rare Disease Legislative Advocates this was another chance to be in the room with folks from other rare diseases and a reminder that rare is not as rare as you think. It was also a reminder that we are a much more powerful community when we join together with other rare diseases. We are so often facing similar problems and so benefit from similar solutions.

Biomarin’s goal is to lower the age of diagnosis of rare diseases through genetic testing. In our discussions throughout the day, we focused on ways to do so. Many different ideas came up but Biomarin is interested in using social media to encourage families to be screened. This is a challenge because they want to get this message in front of a very specific set of people. That’s tough but I feel like we made some progress. Here in our little KCNQ2 corner of world most of us have arrived because genetic testing has already given us an answer. But many other families are still searching. How do we find them and what do we tell them? This is not easy but the meeting was a step forward in this process. As they continue to develop this plan we will continue to work with them and will likely be looking for feedback from the larger world of KNCQ2.

The day was a welcome recharge for me. We spent a lot of time talking about our early experiences when we first realized that something was different with our kids. The similarities of the stories were striking and again a reminder that there are more of us going through this than we realize. It was also a reminder that we in our rare disease community are not in this alone. The technology to diagnose and treat rare diseases has improved dramatically in the last decade and it will continue to improve. This means that companies like Biomarin, along with medical researchers in hospitals, the government, and universities, will continue to push treatments farther faster. Treatments improve, outcomes improve, more people see what is possible and want to work in fields that were once thought of as unlikely to show results. We are at an inflection point with so much of this. Thinking of how far we’ve come in 5 years is striking. The future looks to see even more improvements and advances.

Finally, this was a great experience as it was a reminder that in the mundane details and joys and struggles of our day to day interactions with our children we have information and ideas that can move treatments forward. Improving the lives of those living with KCNQ2 will not rely on one person working for years on some miracle. It will be the result of many people, including us, working hard and working together. And seeing this was a reminder of how valuable our community is. As, Vanessa Vogel-Farley of the Dup15q Alliance said, “A community is the best treatment when there is no treatment.”