I’ve been taking a lot of flak for letting someone drape a giant snake around my daughter Abby a few weeks ago. And I’ll admit that, as part of my ongoing search for a therapeutic breakthrough for Abby, who has Rett syndrome, the experiment was a failure. The goat…
Discussion
Handprint art. Construction paper flowers. Homemade cards. Acrostic poems spelling out M-O-M. These are the images that come to mind when I think of Mother’s Day. For many years, my oldest daughter, Cammy, proudly gave me these treasures. Because she had Rett syndrome, Cammy was never able to…
Unravel Biosciences announced it has begun dosing in a proof-of-concept clinical trial evaluating its experimental therapy, RVL-001, in people with Rett syndrome. Richard Novak, PhD, Unravel’s co-founder and CEO, said this marks “an important milestone for our company and for [people with] Rett syndrome” in a company…
Discussion
Twenty-four years ago this week, my daughter Abby sat 5 feet from one of the world’s most famous movie stars in a hearing room in Washington, D.C., as print and television journalists recorded the biggest media circus ever staged on behalf of Abby’s disability, Rett syndrome. The movie star…
Rett syndrome is a rare genetic disorder that mostly affects females. The disease is characterized by normal early development, followed by slowed growth and a loss of motor control. Learn more about the disease here.
Most cases are caused by a mutation in the MECP2 gene. Scientists have identified mutations in CDKL5 and FOXG1 genes in those who have atypical or congenital Rett. Learn more about what causes the disease here.
Rett syndrome is associated with problems in cognitive, sensory, emotional, and motor skills, and across the nervous system that controls involuntary (or autonomic) functions. Learn more about the symptoms of the disease here.
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