31/07/2025
Europe Part 4: KCNH1 events and a HUGE research win!!!
Although there are only about 100 known cases in the world (and only two of us in all of densely-populated Southern California!), there are 5 KCNH1 families who live in or around Paris, and we also have a KCNH1 family and a wonderful research team in Strasbourg, so I knew we needed to organize a couple of KCNH1 get-togethers while we were in France. The one in Paris was unfortunately pretty rough for Tristan with the heat, he collapsed and we had to rush him out to an air-conditioned car and then back to the Airbnb before we could even get a group picture, but it was wonderful to have a chance to meet all the families even if it was way too short! Huge shoutout to Elodie (a KCNH1 mom in Paris, who has founded sister organization Association KCNH1 and helped us engage with doctors and researchers in France), who took the lead on arranging this special meet-up of French KCNH1 families, which I hope is the first of many more to come 🧬💜
It happened to be the 6th birthday of Robin Prince de l'Espoir, the little boy who lives in Strasbourg, while we were there, and we were so honored to be invited to his birthday party! We spent a lovely afternoon celebrating Robin's big day in his grandparents' beautiful garden, warmly welcomed by his parents and the whole extended family, who prepared the BEST Alsatian tartes flambées (we had this regional specialty many times while in the area, but you definitely can't beat home-made!). They truly made us feel like we were part of the family, and we're so grateful that we had a chance to connect with this sweet family and see our beautiful little boys interacting with each other 🥰
We also had a very productive meeting with the team of dental surgeons and researchers at Université de Strasbourg who are studying the unique dental and gum issues associated with KCNH1 disorders; they have been huge supporters of our community and our registry, and have worked quickly to publish guidance that will help our kids receive better and quicker care 👏
While the rest of our time in Paris was a bit of a disaster, we had one massive success while there: there's a leading channelopathy researcher at Institut Imagine who won an $11 million grant last summer to launch an impressive research program specifically focused on potassium channelopathies (which is what our disease is), and, after a year of emails, meetings, and connecting her to the French patients...we met with her while we were in Paris and she finally agreed to accept KCNH1 into her program!!! This is a huge win, since the initiative is extremely comprehensive and involves many aspects of research that have not been addressed for KCNH1, and now our teeny-tiny disease will be included in this ground-breaking initiative along with the other more prevalent and well-known potassium channel disorders 🎉🎉🎉
Despite some ups and downs, I'd say our trip to Europe was definitely a success overall, both for our family and the KCNH1 community 🙌
