Life With Rett’s Syndrome: A Rare Neurodevelopmental Disorder Derived From A Genetic Mutation

By Lasya Averineni

What exactly is Rett Syndrome?

Rett Syndrome is a progressive neurodevelopmental disorder derived from a unique kind of genetic mutation that affects the development and function of the brain. This syndrome primarily affects females; however, males can be diagnosed with this disorder, though more uncommon. 

This disorder was first described and identified by an Austrian physician.

Dr. Andreas Rett was a pediatrician in Vienna, Austria. When he was able to notice specific and unique symptoms he saw in children, it made him curious about this uncommon behavior. His curiosity led him to travel through Europe, looking for children that had similar symptoms. When he found six girls with similar behavior, he continued his research and was able to publish several German Articles that showed his research and ideas towards the disease. This disorder was more commonly recognized after another article was published in 1983 by Dr. Bengt Hagberg; a Swedish researcher. This report was able to release even more details of the disease, giving readers information about this disorder that wasn’t heard of. Honoring Dr. Andreas Rett, the authors of this journal decided to name this disorder Rett Syndrome. 

Although the idea of Rett Syndrome started to gain popularity, there were still many questions as to why this disease could happen and how it primarily is found in girls.

According to the International Rett Syndrome Foundation, “A research fellow at Baylor College of Medicine (Houston, TX) named Ruthie Amir discovered MECP2, the gene that, when mutated, causes Rett syndrome. The discovery of the gene located at the Xq28 site on the X chromosome was a triumph for the Baylor team, led by Huda Y. Zoghbi, MD. This discovery proved that Rett syndrome is an X-linked dominant disorder which explains why it is usually found in girls”. This innovation that was discovered in 1999 was able to answer the questions of many and provided people with a clear sense of information as to why this disease occurs. 

 
 

How to identify this disease and its symptoms:

Finding out your child has Rett Syndrome can be a very emotional and painful experience. Although your child may appear to be developing normally for the first 6 to 8 months, symptoms start to gradually emerge either during this time or a little later. If your child exhibits early signs of unusual behavior, it is essential to pay close attention to their behavior. If you notice your child losing skills and abilities that they previously possessed, this could be a sign that they are in danger. They lose their ability to walk, crawl, and communicate gradually. As time passes, these symptoms become more severe. Knowing this, it is critical to get your child the help, support, and treatments he or she requires.

Long term symptoms include:

  • Loss of communication and coordination abilities

  • Slowed growth

  • Breathing problems

  • Loss of intellectual functioning

  • Irregular heartbeat

  • Seizures

  • Sleep disturbances

  • Scoliosis

Treatment and cure:

Unfortunately, there is no cure for this debilitating disease; however, there are many treatments for the specific symptoms your child faces. Each day, there are many researchers and scientists that are exploring even better treatments that could help control this disease. Medications, general medical care, physical therapy, speech-language therapy, nutritional support, and occupational therapy are great treatments that can control these severe symptoms and can overall make this experience easier. It has also been proven that complementary therapies such as music therapy, massage therapy, and hydrotherapy can make a significant improvement in their overall well-being. If your child has Rett Syndrome, it is essential for them to have good, quality care. For this to happen, you definitely need to spend time researching this disease, finding good care, and seeking the right treatments that would benefit your child. 

HOW TO Support this syndrome:

Anyone can truly help those who are diagnosed with this disorder. Individuals who face this disease need your constant support. Children and adults that have Rett Syndrome need help with daily tasks and activities. Their need for constant care can be stressful for many families. It is important to know how to deal with these obstacles so the one who needs to provide care for them can be in a good state of mental and emotional well-being. Finding a way to relieve your stress is extremely crucial if you want to see the individual who is diagnosed with this disease prosper. 

What you can do:

  • Volunteer at residential care units, hospitals, and medical centers that have many patients that face this challenge.

  • Be there for others! Show your support to those who have a loved one that has experienced  this disease.

  • Spread positivity! By doing simple acts of kindness, you could put many smiles on the faces of the people who have this disease.

  • Research! It is important to gain knowledge and understanding of this disease. You could improve the lives of many if you involve yourself in research and if you understand the symptoms that they go through!

  • Create and be a part of charity drives for this cause! By donating to this cause, we can gain and find more treatments that can be beneficial for people with Rett’s.

 
 
HealthGenZHER Magazine