Rett Syndrome most disabling of all the autistic disorders

To the Editor:
Cumberland Times-News

I am writing, hoping you will help raise awareness about Rett Syndrome. It’s the leading cause of severe impairment in girls, yet the general public still doesn’t know about it. A baby girl is born every five hours with this debilitating disease.

Imagine: 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. My 21-year-old daughter Amanda was diagnosed with Rett Syndrome in February 1991.

Rett Syndrome is the most physically disabling disorder of the autism-spectrum disorders.

However, it’s the only autism-spectrum disorder with a known genetic cause. Primarily affecting girls, Rett Syndrome often strikes just after they have learned to walk, speak 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.

These include many of the following: regression, loss of speech, motor control and functional hand use; orthopedic problems including scoliosis and osteopenia; impaired cardiac, circulatory and digestive functions; autonomic instability and sleep disturbances; many varieties of seizures, often untreatable; autistic behaviors and sensory issues; Parkinsonian tremors; dystonia; anxiety and apraxia.

Currently, there are no effective treatments for Rett Syndrome. Most girls survive into adulthood and require total, 24-hour care. As of now there is no cure.

But, by raising awareness and continuing to fund research projects, we may be able to make a difference in the lives of girls with Rett Syndrome, and their families.

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.

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 gene, known as MECP2), excellent animal models that faithfully mimic the human disorder, the prospect of reversibility and fast-paced research progress in the last few years.

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.

As printed in a www.eurekalert.org/

pub_releases/2009-09/irsf-iaf092109.php public release announcement:

On Sept. 21, 2009, the International Rett Syndrome Foundation announced that it will provide $200,000 in 2009 to support a newly proposed clinical trial with a growth-factor based treatment for Rett Syndrome.

The study will be carried out by a team of clinical trials specialists at the Boston Children’s Hospital, led by Dr. Omar Khwaja MD, PhD and will be the first potentially disease modifying therapy ever to be tested in Rett Syndrome patients. Investigators will test a drug called Increlex.

“We are pleased to announce the funding of this groundbreaking new clinical study which presents a novel therapeutic strategy for the treatment of Rett Syndrome” said Dr. Antony Horton chief scientific officer at the International Rett Syndrome Foundation.

“This study will be carried out by a collaborative network of leading clinicians and neuroscientists in some of the World’s most prestigious research institutes at the cutting edge of biomedical research. Through our funding of this study we demonstrate our commitment to moving forward the most advanced treatments to prevent, treat and ultimately reverse Rett syndrome,” he said.

Ronna Reid

Rawlings