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Rett Syndrome
Understanding the Disease By C.J. Johnson
The next crucial steps include identifying any downstream genes and discovering potential drug targets for MECP2. Another key question is whether fixing the MECP2 mutations in a child or adult alleviates any of the symptoms.
witnessed our children regress and lose many, if not all, their skills. We peer into their eyes and attempt to understand what our child is trying to communicate with us. We watch other children ride bikes, sing songs and run to hug and kiss their moms and dads. We even have bittersweet feelings when our other children hit milestones that our Rett children will never achieve." Occasionally Coenraads feels helpless and isolated, but she holds onto the thought that biomedical research will find treatments and a cure. Her message to parents is to get involved. Make a difference in their child's life by actively playing a role in the search for a cure.
Coughlin wants to remind all parents to look into their children and find what truly matters. "Step back, take a look at that precious face your daughter has and think of all the things she is being spared in this crazy world in which we live," she says. "You will always know where she is, she will never run with the 'wrong' crowd, she won't get hooked on drugs. She will always love you unconditionally."