Help find a cure for Rett syndrome

Imagine the symptoms of autism, cerebral palsy, Parkinson's, epilepsy and anxiety disorders ... ALL IN ONE LITTLE GIRL. Our family does not have to imagine this; we are living it. Our 3-year-old daughter Emma was diagnosed with Rett syndrome in September 2008.

Rett syndrome is the most physically disabling of the autism-spectrum disorders; however, it is the only autism-spectrum disorder with a known genetic cause. Primarily affecting little girls, Rett syndrome often strikes just after they have learned to walk and say a few words, and begins to drag their development backward. This debilitating syndrome includes symptoms seen in many other severe neurological and neuropsychiatric disorders on which Rett research may shed light:

Regression, including loss of speech, motor control and functional hand use

Autonomic instability and sleep disturbances

Autistic behaviors and sensory issues

Impaired cardiac, circulatory and digestive functions

Parkinsonian tremors

Many varieties of seizures, often untreatable

Anxiety

Apraxia

Dystonia

Orthopedic problems including scoliosis and osteopenia.

Currently there are no effective treatments for Rett syndrome. Most girls survive into adulthood and require total, 24-hour-a-day care.

In 2007 the journal Science published the work of Adrian Bird, Ph.D. demonstrating the reversal of Rett syndrome in mature mouse models with late-stage disease. Only days away from death, these animals recovered normal function and became indistinguishable from healthy mice in a matter of weeks. This singular achievement has catapulted Rett into new realms of possibility and positions Rett syndrome to be the first curable childhood neurological disorder. Rett syndrome, unlike so many disorders (autism, Alzheimer's, Parkinson, MS, etc.) has unique advantages: a known cause (a single gene), excellent animal models that faithfully mimic the human disorder, the prospect of reversibility and fast-paced research progress in the last few years.

Private funding is essential to bridge the "valley of death." This is the funding gap between where government funding of basic science leaves off and pharmaceutical funding of late-stage drug development begins. There are clear treatment approaches that are currently being explored. The ideas, people and projects are in place. Funding is needed to execute this critical work.

One year and one month, almost to the day, later, our family, along with Girl Power 2 Cure, is leading the fight for a cure with a benefit concert and auction to benefit the Rett Syndrome Research Trust. Country music singer Kevin Black, who was recently seen on NBC's "Celebrity Apprentice" with brother Clint Black, along with local musicians - Phil Henry, Steve Borst, Becky Sutter, Dogs of Jazz, Spring on Jupiter, Adirondack harpist Martha Gallagher and Michael Martin - will be presenting an afternoon of music to support the cure.

Kevin Black will be traveling from Houston, Texas to be a part of this very special event on Oct. 17. Black's daughter Cortney struggled with Rett syndrome until the age of 16, when she succumbed to complications of this potentially curable disorder.

The silent auction will begin at 1 p.m., with the concert following at 3 p.m. at the Harrietstown Town Hall. Tickets are $20 and will be sold at the door. One hundred percent of the proceeds will go to the Rett Syndrome Research Trust to help fund this crucial research. For more information about Rett syndrome and to view our auction items, please visit our Web site: www.rockinforrett.org/emma.

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Mark, Jen, Sarah and Emma Dalton live in Paul Smiths.

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