Rett Syndrome
The Diagnosis
Dear Special Parent,
Receiving a Rett Syndrome diagnosis for your child can be a profound and emotional experience. As someone deeply familiar with the myriad of emotions this news can bring, I am here to guide you through what Rett Syndrome means, how it is diagnosed, and constructive steps you can take following your child’s diagnosis.
What Does a Rett Syndrome Diagnosis Mean?
Rett Syndrome is a rare neurodevelopmental disorder primarily affecting girls and usually becomes apparent after 6 to 18 months of life. Children with Rett Syndrome typically experience a period of seemingly normal development followed by a regression in skills, particularly in motor functions and speech. This disorder includes challenges with cognitive, sensory, emotional, motor, and autonomic functions. Understanding that Rett Syndrome manifests uniquely in each child is key to tailoring care and interventions to meet their specific needs.
How is Rett Syndrome Diagnosed?
The diagnosis of Rett Syndrome is a detailed process that involves several critical steps:
1. Developmental Monitoring: Regular monitoring of your child’s development can sometimes indicate early signs that point towards Rett Syndrome and similar conditions, such as a decrease in eye contact, reduced interest in toys, or loss of motor skills and speech.
2. Detailed Symptom Assessment: A thorough evaluation ensures that similar conditions such as autism, cerebral palsy, or non-specific developmental delays are ruled out. Neurologists look for specific symptoms such as small head size, repetitive hand movements (e.g., hand-wringing), and irregular breathing patterns.
3. Comprehensive Diagnostic Evaluation: Specialists such as developmental pediatricians or neurologists might evaluate your child’s cognitive, motor, language, and social skills and look for specific patterns of regression or plateaus in development. A blood test may be needed to look for mutations in the MECP2 gene, the primary genetic marker linked to Rett Syndrome. Not all children with Rett Syndrome will have an identified MECP2 mutation, so further testing may be necessary.
What Comes After a Diagnosis
Navigating the aftermath of a Rett Syndrome diagnosis can stir a range of emotions—from confusion to concern about the future. Here are some vital steps to consider following a diagnosis:
1. Educate Yourself: Understanding Rett Syndrome is crucial. This knowledge will empower you to make informed decisions about your child’s care. Look for information from reliable sources and specialists with expertise in Rett Syndrome.
2. Pursue Early and Ongoing Intervention: Interventions might include physical therapy to assist with motor skills, speech therapy to support communication abilities, and occupational therapy to enhance daily living skills. The sooner and more tailored the interventions, the better the potential outcomes for your child.
3. Establish Robust Support Systems: Build a network of support involving family, friends, and healthcare professionals who understand Rett Syndrome. Connect with online and local support groups where you can find emotional support, practical advice, and shared experiences from other families navigating similar journeys.
Empathy & Understanding On Your Journey
As you venture through this path, it’s natural to feel overwhelmed at times. Continue to educate yourself, ask questions, and seek the best possible tools and resources to support your child’s development and quality of life. Rett Syndrome is challenging, but with the right support and information, you can manage its complexities. Embrace this journey with empathy, not only for your child but also for yourself. Your dedication and love are fundamental to navigating this path.
Dr. Kimberly
Receiving a Rett Syndrome diagnosis for your child can be a profound and emotional experience. As someone deeply familiar with the myriad of emotions this news can bring, I am here to guide you through what Rett Syndrome means, how it is diagnosed, and constructive steps you can take following your child’s diagnosis.
What Does a Rett Syndrome Diagnosis Mean?
Rett Syndrome is a rare neurodevelopmental disorder primarily affecting girls and usually becomes apparent after 6 to 18 months of life. Children with Rett Syndrome typically experience a period of seemingly normal development followed by a regression in skills, particularly in motor functions and speech. This disorder includes challenges with cognitive, sensory, emotional, motor, and autonomic functions. Understanding that Rett Syndrome manifests uniquely in each child is key to tailoring care and interventions to meet their specific needs.
How is Rett Syndrome Diagnosed?
The diagnosis of Rett Syndrome is a detailed process that involves several critical steps:
1. Developmental Monitoring: Regular monitoring of your child’s development can sometimes indicate early signs that point towards Rett Syndrome and similar conditions, such as a decrease in eye contact, reduced interest in toys, or loss of motor skills and speech.
2. Detailed Symptom Assessment: A thorough evaluation ensures that similar conditions such as autism, cerebral palsy, or non-specific developmental delays are ruled out. Neurologists look for specific symptoms such as small head size, repetitive hand movements (e.g., hand-wringing), and irregular breathing patterns.
3. Comprehensive Diagnostic Evaluation: Specialists such as developmental pediatricians or neurologists might evaluate your child’s cognitive, motor, language, and social skills and look for specific patterns of regression or plateaus in development. A blood test may be needed to look for mutations in the MECP2 gene, the primary genetic marker linked to Rett Syndrome. Not all children with Rett Syndrome will have an identified MECP2 mutation, so further testing may be necessary.
What Comes After a Diagnosis
Navigating the aftermath of a Rett Syndrome diagnosis can stir a range of emotions—from confusion to concern about the future. Here are some vital steps to consider following a diagnosis:
1. Educate Yourself: Understanding Rett Syndrome is crucial. This knowledge will empower you to make informed decisions about your child’s care. Look for information from reliable sources and specialists with expertise in Rett Syndrome.
2. Pursue Early and Ongoing Intervention: Interventions might include physical therapy to assist with motor skills, speech therapy to support communication abilities, and occupational therapy to enhance daily living skills. The sooner and more tailored the interventions, the better the potential outcomes for your child.
3. Establish Robust Support Systems: Build a network of support involving family, friends, and healthcare professionals who understand Rett Syndrome. Connect with online and local support groups where you can find emotional support, practical advice, and shared experiences from other families navigating similar journeys.
Empathy & Understanding On Your Journey
As you venture through this path, it’s natural to feel overwhelmed at times. Continue to educate yourself, ask questions, and seek the best possible tools and resources to support your child’s development and quality of life. Rett Syndrome is challenging, but with the right support and information, you can manage its complexities. Embrace this journey with empathy, not only for your child but also for yourself. Your dedication and love are fundamental to navigating this path.
Dr. Kimberly
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Dr. Kimberly Idoko
Certified Special Parent Coach
Dr. Kimberly is the mother and fierce advocate of Aiden and Lexi; Lexi is developmentally disabled by Rett Syndrome. Dr. Kimberly is a board-certified neurologist in clinical practice for more than 15 years; she is also a children’s rights attorney — the former director of healthcare advocacy at a Los Angeles-based legal agency. She is Yale College, Penn Medicine, Columbia Business, and Stanford Law trained.
