What to Know About Rett Syndrome

Rett syndrome can be described as a serious neurological disorder that is found mostly in girls. It begins to develop as a toddler. After a normal first year, the child is beginning to lose developed abilities. The decline can occur quickly over a few days or gradually over months. Typically, the first symptoms to show are muscle weakness (hypotonia) as well as eye crossing, fewer interactions with other people and the environment, and a decline in hand function. The most prominent characteristic of Rett is a pattern of hand movements that may be regular, particularly for young children.

As time goes on, other signs might include loss of speech, problems in motor and balance, irritability, crying as well as disturbed sleep patterns. A lot of children suffer from seizures as well as anxiety, breathing issues or gastrointestinal issues, orthopedic and gastrointestinal problems along with oral motor issues.

It is vital to understand that Rett is an atypical disorder with children showing a wide spectrum of severity. Some children can speak, run, and eat, while others are unable to sit up. The symptoms of Rett are unfortunately numerous and, often, life-threatening. Our children are more than the symptoms. Beautiful, strong, they are resilient. They inspire us to conquer mountains for their benefit.

Is There a Cure for Rett Syndrome?

There is no cure for those suffering from Rett syndrome, the main purpose of Rett Syndrome Research Trust is to discover an effective cure as soon as possible. We are hopeful about finding the possibility of a cure since symptoms resembling those of Rett have been significantly reversed in animals that have been tested for the disorder.

Curing the disease is dependent on identifying the underlying cause: modifications that affect the MECP2 gene. RSRT is identifying six strategies based on genetics that target the root cause. RSRT is moving quickly to transfer its knowledge and resources to biopharmaceutical firms, which will continue to develop and commercialize the cure.

There are currently 8 companies that are pursuing genetic-based therapies to treat Rett syndrome. These programs all draw on research and resources that were developed through RSRT funding.

How Many People Have Rett Syndrome?

It is believed that one girl in 10,000 is diagnosed with Rett syndrome. This is roughly 15,000 women and girls within the US and around 350,000 people worldwide suffer from the condition. The prevalence of Rett syndrome for males is not known at present.

Rett syndrome was classified as a “rare condition” (by definition more than 200,000 people within the US) by the Office of Rare Diseases of the National Institutes of Health. This classification qualifies to be granted orphan drug status by the FDA and offers certain benefits to pharmaceutical companies, like tax exemptions and exclusivity in marketing a product for a longer period.

What is the Cause of Rett Syndrome?

Rett is a result of a mistake in a gene known as MECP2 which lies on the X chromosome. We all have an MECP2 gene within each of our cells. It produces an enzyme, which is also known as MECP2. Children who suffer from Rett are affected by a mutation in the gene which causes the protein to not function as it should. MECP2 is a MECP2 protein found throughout your body. But it’s particularly essential in the brain where it is essential to keep the brain cells in good working order.

Why Do Girls Suffer from Rett Syndrome More Than Boys

Many studies have shown that the majority of MECP2 mutations are caused by sperm. Since fathers pass on an X chromosome to their daughters, and a Y chromosome to their sons in turn, the MECP2 mutation in sperm is only transmitted between father and daughter. This is the reason Rett is mostly seen in girls.

Due to the massive amount of sperm being produced, all males probably produce fertilized sperm with MECP2 mutations. One out of 20,000 eggs is fertilized by a sperm with a MECP2 mutation within the grim fact of the genetic lottery.

When boys are born with Rett the MECP2 mutation originates from their mother’s eggs. Sometimes, however, the mutation could also be originating in a single cell when the male embryo is growing. This is known as somatic mosaicism.

Many scientific studies over the years have proposed that male fetuses only have one X chromosome that their condition is so severe they would not be able to develop fully and mothers may miss-conceive. There is however no research evidence to support this theory.