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Rett Syndrome is a rare genetic disorder caused by a mutation of the MECP2 gene on the X chromosome, thereby generally affecting girls. It is a neurodevelopmental disorder, meaning it is related to abnormal brain development versus degeneration of the brain over time. It was initially discovered in 1966 by Dr. Andreas Rett, based on symptoms, where he named it Rett Disorder. In 1983, the first paper was published recognizing it as a clinical entity, naming it Rett Syndrome. The MECP2 gene causing Rett Syndrome was discovered in 1999.
Rett, like many rare disorders, has a varying degree of symptoms depending on the type of mutation and the loss of function. In some cases, individuals maybe able to walk and communicate with assistance, whereas in others, individuals cannot. In general, symptoms include a limited ability to walk, talk, purposefully use their hands, with hand wringing, breathing problems, digestive problems and in some cases, epilepsy.
There is no current cure for Rett Syndrome though in March 2023 Trofinetide, under the U.S. brand name Daybue, was FDA approved to treat symptoms associated with Rett Syndrome.
There are a quite few organizations offering parent and caregiver support, with some of them funding research aimed to cure Rett Syndrome:
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The Children's Rare Disorders Fund is dedicated to finding a cure for FOXG1 Syndrome, and replicating successes across as many rare genetic disorders as possible through funding gene, stem cell and/or drug therapy research. Children with rare disorders are often neurologically and physically disabled. They are often unable to walk, talk, feed themselves, nor do much of what we take for granted every day. Founded by parents of a toddler affected by FOXG1 Syndrome, The CRD Fund is one of the few charities in the world in which 100% of every donation is directed to the cause - in this case, to the development of cures and treatments.
