KCNQ2 Connections
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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…
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…
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…
How do matching gift programs work?
What is a matching gift? A matching gift is a charitable donation your company gives on your behalf. It is based on donations you’ve provided an organization. How do companies decide which organizations to support? According to Double the Donation, “restrictions for eligibility ultimately fall to the employer, but the most common restriction is for…
KCNQ2 Cure Alliance Joins Epilepsy Foundation Research Roundtable
On March 21-22, I had the opportunity to represent the KCNQ2 Cure Alliance at the 2019 Research Roundtable for Epilepsy organized by the Epilepsy Foundation. Now in its fourth year, the annual meeting brings together patient advocacy organizations with leading epilepsy experts from research organizations and pharmaceutical companies with regulators from the Food and Drug…
Rare Disease Legislative Advocates
Last week I spent two days around the halls of Congress, lobbying as part of the Rare Disease Week activities on Capitol Hill, organized by the Rare Disease Legislative Advocates (RDLA). Each year, hundreds of rare disease advocates from all across the country and all political stripes descend on Washington DC to help lawmakers better…
KCNQ2 Cure Alliance Announces Collaboration with KCNQ2.e.v.
KCNQ2 Cure Alliance Announces Collaboration with KCNQ2.e.v., of Trier, Germany KCNQ2 Cure Alliance today announced it is collaborating with KCNQ2 e.v., of Trier, Germany. Simone and Sebastian Bethge, whose son, Sepp, is affected by a KCNQ2 mutation, founded KCNQ e.v. to raise funds to support research to find a cure for KCNQ2 developmental and epileptic…
KCNQ2: What’s in the Alphabet Soup?
Experts have known for some time what the KCNQ2 gene does, and it was named accordingly – “K” for the scientific symbol for potassium, “CN” as an abbreviation for channel, and “Q2” for the subtype Q2. But even scientists only recently understood the wide range of different variations in the “source” of the mutations and…