Please permit me space in your newspaper to discuss the issue of Rett Syndrome.
According to the World Bank Group, statistics released from the United Nations during their General Assembly on Disability in 2019 showed that one billion people (15% of the world’s population) experience some form of disability, and one-fifth of the estimated global total experience significant disabilities.
An Austrian Neurologist, Andreas Rett, published a report in 1966 notifying the public about a disorder termed Rett Syndrome (Cerebroatrophic hyperammonemia). According to the International Rett Syndrome Association (IRSA), Dr. Rett had observed two girls making the same repetitive hand-washing motions. He compared their clinical and developmental records and found they were very similar. Dr. Rett had six other girls with similar behaviours, and became very interested in this unknown illness. He devised a film of the girls, and began travelling around Europe in efforts to find other girls with comparable symptoms.
Rett Syndrome is a rare neurological disorder that affects brain development and functionality. It causes a progressive loss of motor skills and speech. This condition affects approximately one in 10,000 girls, and is hardly found in males. Rett Syndrome is genetically caused by mutation in a gene located on the X chromosome. Most of the symptoms are elusive, and vary with age.
Babies with Rett Syndrome are born after a normal pregnancy and delivery. Most infants with Rett Syndrome seem to grow and behave ordinarily for the first six months. However, signs and symptoms start to appear afterwards, and at each stage, the patient experiences different symptoms.
Stage One, which is also known as early onset, has signs and symptoms that are subtle and easily overlooked. It starts between 6 and 18 months of age, and can last for months to a year (12 months). Babies may show less eye contact, and experience delays in sitting or crawling, or disinterest in toys.
In Stage Two, rapid deterioration occurs between 1 and 4 years of age. Children can be seen losing the ability to perform skills they once had. This physical loss can either occur rapidly, or gradually over a few weeks or months. Symptoms of Rett Syndrome occur, such as slowed head growth, abnormal hand movements, rapid weight loss, hyperventilating, screaming or crying for no apparent reason, sudden outbursts, difficulties with movement and coordination, and a loss of social interaction and communication.
Stage Three, or the plateau stage, begins between the ages of 2 and 10 years, and can last for many years. While problems with movement continue, behaviour may have limited improvement, with less irritability and some improvement in hand use and communication. Seizures may begin during this stage; more specifically, silent seizures occasioned by a sudden, uncontrolled electrical disturbance in the brain, which can severely affect the child, if not treated.
Stage Four, known as the late motor deterioration stage, usually begins after the age of 10, and can last for years, or even decades. It’s marked by reduced mobility, muscle weakness, joint contractures, and in some instances by scoliosis, which is a lateral curvature of the spine. Understanding, communication and hand skills generally remain stable, or can improve slightly, and seizures may occur less.
Although there’s no cure for Rett Syndrome, potential treatments are being studied. Current treatments focus on improving movement and communication through therapies (speech and physical), treating seizures, and providing care and support for children and adults with Rett Syndrome.
Raising a child is indeed difficult, but raising a disabled child involves concerns about that child’s future and the family’s future in general, and can be very overwhelming. Parents often lack the financial support necessary, and may experience trauma if they do not get the appropriate treatments. No parent wants their child to be sick, disabled, or harmed in any way. It is not an experience anyone expects to go through; rather, it is an experience that is unplanned. The terrain families must travel is very rough, and yet most families are able to find the strength within themselves to adjust to, and handle, the challenges that may accompany their child’s disability.
Personally, my family has experienced great deals of distress and tribulations after the diagnosis of my 7-year-old niece, who is a warrior against Rett Syndrome.
Doctors can easily diagnose Rett by observing signs and symptoms at every stage of growth and development. However, this is not possible in Guyana, due to the lack of trained personnel and equipment in the health-care institutions. As a result, we have been inspired and motivated to initiate an awareness campaign and non-profit organization – Precious Angels’ Charity – in efforts of spreading awareness and raising funds for the treatment of these precious souls, who are silenced by this disorder.
If anyone has a relative or loved one experiencing peculiar signs and symptoms, kindly be aware that help can be provided. Although diagnosis and full treatment are not quite present in Guyana for suspected cases of Rett Syndrome, dedicated neurologists and therapists from abroad occasionally offer screening at Met Pride Academy, which is a ‘special needs school’ (metprideacademy.org). This is done so as to provide answers, suggestions, and greatly needed help to the questions desperate families ask about their disabled child. One can only hope for a cure to be found in the near future.
It is through unity and perseverance that Rett Syndrome can be defeated. We must stand together, exert love, and put aside conflicts to provide emotional help to the families and children affected by this disorder and many more like it.