KCNQ2 Connections
Picture Perfect
It takes so much more energy When you love and live with someone who has a rare condition like KCNQ2, the day-to-day grind can feel overwhelming. How do you keep creating and capturing beautiful memories? Here, KCNQ2 mum Claire Audibert shares her thoughts on focusing on unique and small moments of happiness, and what lies…
How my daughter’s medical history is a Tool Towards a CURE
My daughter Ella was only a month old when the neurologist at the third hospital she was sent to that month said, “Just go home and love her. We don’t know what to do until genetic testing comes back.” At this time she was having around 7 seizures every hour and no medication we had…
Find Your Tribe
When tragedy strikes and your world is turned upside down, how do you start to recover? Who do you turn to for advice, reassurance, support? Here, KCNQ2 mum Claire Audibert shares how she found support in KCNQ2 Cure Alliance, and a sense of belonging to a community. A rare and catastrophic condition 9 June 2015:…
KCNQ2 Cure and Invitae/Ciitizen partner on new observational study
The KCNQ2 Cure Alliance is excited to announce that we have partnered with Invitae Ciitizen to develop an Observational Study for patients affected by KCNQ2-DEE. Invitae Ciitizen has developed an innovative process to collect vital patient data that has already benefitted numerous rare disease and cancer communities. The Invitae Ciitizen platform allows data access for…
Carlo’s Story
It was back in 1843 that Charles Dickens penned what would become the immortal Yuletide tale, A Christmas Carol. The miser Scrooge learns the true meaning of Christmas when he is haunted by the Ghosts of Christmas Past, Present, and Future. “I see a vacant seat,” replied the Ghost, “in the poor chimney-corner. And a…
Gold Stars
A huge shout out to all our friends in the KCNQ2 Community for making the 2021 KCNQ2 Cure Virtual Summit such a smashing success. We are thrilled so many of you could participate live on Friday and Saturday, October 15 and 16. We’re excited to report that we had 125 people join our summit from…
A Focus on Food
Here at KCNQ2 Cure, especially during COVID-19, we find ourselves thinking a lot about food. Searching for new recipes. Recently, I caught up with a friend Down Under who has been doing the same thing. A cook herself, she wrote a magazine about it. Here is my interview…. Australian Pete Heine tells me she always…
KCNQ2-DEE Clinical Trial
Xenon Pharmaceuticals is currently developing XEN496, which is a proprietary pediatric formulation of the active ingredient ezogabine, for the treatment of KCNQ2 developmental and epileptic encephalopathy (KCNQ2-DEE). Ezogabine was previously approved by the U.S. Food and Drug Administration (FDA), as an anti-epileptic drug as an adjunctive treatment for adults with focal seizures with or without…
Ode to a Cure
Our KCNQ2 Cure pal Dr. Phillip Pearl is on the front lines of the battle against COVID-19. Dr. Pearl is the Director of Epilepsy and Clinical Neurophysiology at Boston Children’s Hospital and a professor of neurology at Harvard University. He’s also a celebrated jazz musician. When I spoke to him recently, I asked him if…
KCNQ2 COVID-19 Emergency Relief Grant Program
KCNQ2 COVID-19 Emergency Relief Grant Program We at the KCNQ2 Cure Alliance have spent the last few months split between wrangling our own families (who knew 2020 would give us the opportunity to try out being full-time chefs, teachers, coaches, nurses, and teleworkers all at once?) and thinking about our KCNQ2 community. In early May,…