Rett Syndrome is
a rare, genetic, neurodevelopmental disorder that primarily affects girls, characterized by normal development initially, followed by a regression in skills, particularly in motor and communication abilities, and often accompanied by characteristic hand movements
Genetic
Rett syndrome is caused by a mutation in the MeCP2 gene, located on the X chromosome. Mutations typically appear as a transcription, insertion, deletion, or duplication. In our case, it is a single point transcription error.
This mutation prevents the gene from producing a very important protein for brain function. Think of MeCP2 like a coach who tells the players (genes) when to play and when to sit on the bench. Without a good coach, even though all the players are still there, the game (your brain) gets chaotic.
Onset
Development appears normal for the first 6 to 18 months, followed by a period of regression where children lose previously acquired skills, including language and motor skills. For the Twinsleys, it is difficult to tell if the regression has started because we don’t know if their motor delays before 6 months were due to Rett Syndrome, prematurity, or something else.
Diagnosis
Rett Syndrome can be diagnosed clinically or genetically.
Treatment
There are currently no cures, however, the first FDA approved medication developed specifically for Rett Syndrome was recently released to the public. The Rett Syndrome Research Trust, a parent-founded non-profit, has dedicated themselves to raising funds to support research to develop life changing gene therapies and, ultimately, a cure.
A cure is on the horizon.
(If you feel called to make a donation to further the work towards a cure, please contribute via the Twinsley’s RettGive campaign.)
Symptoms: Motor
- Loss of Purposeful Hand Function: Children may lose the ability to grasp and intentionally touch things, and may develop repetitive hand movements like hand wringing, clapping, or tapping.
- Motor Skill Problems: Balance and coordination challenges, leading to difficulties walking, and potentially loss of the ability to walk. This may also affect chewing and swallowing leading to use of g-tubes.
- Muscle Issues: hypotonia (low muscle tone) early in life often leads to high muscle tone and spasticity later in life making movement stiff and difficult.
Symptoms:
- Communication Difficulties: Loss of speech and other communication skills is common.
- Breathing Issues: Breathing problems, including hyperventilation and breath-holding, can occur.
- Seizures: about 60-90% of people with Rett Syndrome experience seizures beginning in early childhood.
- Sleep Disturbances
- Gastrointestinal Issues
- Scoliosis
Always presume competence.
Just because someone doesn’t communicate the same way, that doesn’t mean they don’t hear, feel, think, or understand.
Always presume competence.
