Why is it important to properly diagnose Rett syndrome at an early age?
Although every girl with RTT is unique, from our experience we know that girls with RTT share many similar factors, which also reflects their specific needs:
1. Most girls with RTT develop the same health complications (scoliosis, problems with balance and equilibrium, hypotonia, kidney and gallbladder disease, constipation, gastroesophageal reflux). Since these “secondary” complications only express themselves with the child’s development, they may be often overlooked unless the parents and pediatrician are made aware of them. There are various different stages of RTT, each with its own typical symptoms. It is good to know about them.
2. Early diagnosis enables physical therapy, proper healthcare, and special education aimed at meeting the patient’s specific needs. The many long-term studies performed throughout the world give us an idea of what a patient’s development might look like. They also help the girl’s family to better cope with the situation and give them an overview of available services.
3. In education, too, girls with RTT show many similarities. They require a special approach in particular in the areas of communication and mental development. Because their speech and motor skills are affected, girls with RTT require a greater level of support than other children.
Education requires the constant presence of teacher and assistant (i.e., two teachers per pupil) for any activity. The girls are perceptive and capable of learning.
4. Most diagnoses of RTT, if they happen at all, are during early childhood development – i.e., somewhere between age 1 and 4, sometimes even later. The period of developmental regression is a stressful time for everyone, when neither the girls nor their parents understand what is happening or why, and they have to come to terms with the many changes that are happening. The child often cries, and may experience breathing difficulties and sleep or emotional disorders, possibly also epileptic seizures. An early and proper diagnosis provides certainty for parents, along with information on what they can do. Looking after a child with RTT is extremely demanding and exhausting for the entire family. From the long-term perspective, it is a good idea to begin offering support to the child’s primarily caretakers (i.e., the parents) as soon as possible.
Despite all the difficulties and limitations associated with Rett syndrome, if they receive sufficient support girls with this illness can live a full life as members of society. Girls with RTT are capable of learning and engaging in many different activities; they just need someone who is always at their side and helping them along.
