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MEAK- Myoclonic Epilepsy Associated with KCNC 1 gene mutation
Thu, 04/09/2015 - 12:58I am the parent of a 23 year old daughter who was recently diagnosed with MEAK after 13 years of rigorous testing, consultations with some of the top doctors in the country and many unsuccessful attempts at treatment. My daughter Lauren was part of a study done by Dr. Sam Berkovic in Australia, Dr. Anna-Elina Lehesjoki in Finland and several other scientists around the world. The results of the study were published in Nature Genetics in November 2014. Currently, there are only 14 known cases in the world. However, scientists feel this mutation can occur in 1 out of every 5.7 million births. Lauren began having symptoms at age 10. Prior to that, she was an active child who enjoyed dancing, singing, acting, softball and karate. At age 10, she had her first tonic clonic seizure. Soon after that, she began experiencing myoclonic twitching, first in her hands and arms, then eventually in her legs and torso. The quality of her speech also began to deteriorate. The myoclonus became so severe that she eventually could no longer walk or feed herself. By age 16, she was in a wheelchair and needed assistance with all functions of daily living. ie: eating, bathing, toileting and walking. Lauren spent the majority of her childhood in hospitals undergoing rigorous testing and trying numerous medications to try to alleviate her symptoms. This debilitating condition has left her feeling very isolated but it has not diminished her spirit. She is a bright, articulate 23 year old with the same hopes and dreams of anyone her age. She lives with her condition every day with grace, dignity and a sense of humor. She inspires all those who know her. I am proud to be her mother. With this diagnosis, comes renewed hope that through research scientists will find a way treat it.
I have started a Facebook page at www.Facebook.com/meakresearch. My hope is to connect with the other families who have received this diagnosis and also inform people about this new discovery. I have also started the Lauren Arena foundation for MEAK Research to raise awareness of the condition and eventually to raise funds for much needed research.