KCNQ2 Connections

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…

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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…

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AES 2018

AMERICAN EPILEPSY SOCIETY 2018 and KCNQ2 The annual meeting of the American Epilepsy Society (AES) is the premier scientific meeting for the physicians, scientists, pharmaceutical industry, and patient groups engaged in epilepsy and related diseases, such as KCNQ2. Our time at the AES meeting in New Orleans this month was a time of learning, seeing…

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Ray Of Hope

When KCNQ2 Mom Holley Moseley decided to write the story of her daughter’s harrowing odyssey from desperately ill child to cheerful teenager, she knew exactly what the title had to be. “She’s my Ray of Hope.” Ray of Hope tells the story of RayAnn Heller, a little girl born with rare genetic epilepsy KCNQ2. RayAnn…

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KCNQ2: What’s in the Alphabet Soup?

what does kcnq2 stand for

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…

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Support KCNQ2 Cure Alliance every time you shop on Amazon

shopping on amazon

Donating to the KCNQ2 Cure Alliance is as easy as shopping online… literally! You can give even more when you sign up for AmazonSmile – a simple and automatic way to donate to the Foundation while you shop on Amazon. The best part? It costs nothing to you! How it works: Amazon will donate 0.5%…

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Healthcare for Disabled Children Secured

irish bill

We are so excited to share the tremendous achievement of our own Mark Fitzpatrick of Dublin, Ireland.  Through Mark’s unwavering efforts over nearly three years, he has secured the right to much needed medical care for thousands of Irish children with disabilities.  Thanks to Mark, no new parents in Ireland will have to go through…

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KCNQ2 and Rare Disease Day 2017

rare disease week

Denver, Colorado The KCNQ2 Cure Alliance celebrated Rare Disease Day 2017 working to improve the lives of our children with efforts on multiple fronts. An international team of parents and KCNQ2 experts met in Denver today to set priorities for the coming year. At the same time, we were well represented in Washington D.C., as…

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KCNQ2 author Krystal Givens

Jake KCNQ2

Q&A with Krystal Givens, author of: A Song for Someone Special What a journey to write a book! How did you go about writing, illustrating, publishing and now selling A Song for Someone Special? I always sing to my babies when they are little and I had been singing this song to Jake and my…

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Parents connecting in Germany

parents

The KCNQ2 community is growing rapidly due to better awareness by doctors, parents, and our international foundation. We know that getting answers is crucial for parents, and meeting others with the same diagnosis can be life-changing. After many months and sometimes years of uncertainty we all feel comforted in the knowledge that we are not…

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