By Harsh Malhotra
Imagine a girl child, in a remote village, completely helpless, born to semi-literate parents, who can barely afford a decent living, away from any reasonable medical help is afflicted by Rett syndrome – a unique neurological developmental disorder that is first noticed in infancy and primarily affects girls, but can be rarely seen in boys. The syndrome sure is a cause of worry and needs immediate attention.
Rett syndrome has been most often misdiagnosed as autism, cerebral palsy, or global developmental delay. It is found in all ethnic and racial groups and occurs worldwide in 1 of every 10,000 to 15,000 females. Rett Syndrome was discovered by Dr Andreas Rett in 1966 when he published his finding in German medical journal and named the disease as Rett syndrome.
Symptoms of Rett syndrome appear after an early period of apparently normal or near normal development until six to eighteen months of life, when there is a slowing down or stagnation of skills.
A period of regression then follows when the girl loses communication skills and purposeful use of her hands. Soon, repetitive hand movements such as hand washing, hand clenching, clapping, hand mouthing, wringing and tapping start appearing along with walking problems, and slowing of the normal rate of head growth. Other problems may include seizures, bruxism, scoliosis, digestion problems and breathing problems while she is awake.
In the early years, there may be a period of isolation or withdrawal when she is irritable and cries inconsolably. Over time, motor problems may increase, but in general, irritability lessens and eye contact and communication improve.
Rett syndrome can present with a wide range of disability ranging from mild to severe. The course and severity of Rett syndrome is determined by the location, type and severity of mutation and X-inactivation. Therefore, two girls of the same age with the same mutation can appear quite different. Currently there are no effective treatments for Rett syndrome. Most girls survive into adulthood and require total, 24-hour-a-day care.
Diagnosis & testing
Rett syndrome is most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay. In the past, making the correct diagnosis called not only for a long list of diagnostic tests and procedures to rule out other disorders, but it also took from months to years waiting to confirm the diagnosis as new symptoms appeared over time. Today, we have a simple blood test to confirm the diagnosis.
However, since we know that the MECP2 mutation is also seen in other disorders, the presence of the MECP2 mutation in itself is not enough for the diagnosis of Rett syndrome.
Diagnosis requires either
• The presence of the mutation (a molecular diagnosis by blood test)
• Fulfillment of the diagnostic criteria (a clinical diagnosis, based on signs and symptoms that you can observe)
• Or both.
It is expensive to diagnose Rett syndrome mutations for which the parents have to shell out huge sums of money to private hospitals. It is a highly undiagnosed syndrome. Scores of girls are waiting to be reached; not for cure but even for a simple diagnosis.
Mission of IRSF
Indian Rett Syndrome Foundation is a national association of Parents, Families, Doctors, Scientists, Health professionals and care takers of children with Rett syndrome and was established on 27th January, 2010. The mission of IRSF is:
• To identify people with Rett syndrome in India. India has largest population in world and we expect a large number of patients affected with Rett syndrome.
• To counsel & educate families & doctors on the management of Rett syndrome.
• To give aid to parents by reimbursement of medicines, arranging awareness events, picnics, payments of necessary expenses.
• To unite and help parents, families, caregivers, friends, people with Rett and professionals by creating a strong, supportive community by sharing information, news and research about Rett syndrome, so that they can understand and can work together for the care of these children and their families.
• To help in improving the quality of life of with all those affected with Rett syndrome by proving support, information, services and practical help required by the families.
• To raise public and professional awareness and understanding of Rett Syndrome by collecting and providing correct information describing diagnosis, causes, therapies, research and other aspects of this disorder, training for scientific and health care personnel and distribution of educational material about Rett syndrome to families, doctors and the general public of India.
How you can help us:
• Become a member:
• This will strengthen this cause at national and International levels
• Encourage others to join and to form help groups with the parents and professionals as partners
• Participate or help in organizing Awareness symposiums, trainings and other programs
• Initiate and develop facilities in your own region to educate people about this disorder
• Sponsor a child’s treatment, therapist’s training or a school’s infrastructure/facilities
• Donate for the care and welfare of these children and their families We invite you all (who love and care these “Silent Angels”) to become members and give your support and help, so that these Angels can have an improved quality of life.
• Your contribution will reach the right people.
Donations to Indian Rett Syndrome Foundation are exempted from Income tax under Sec 80 G.
Send your cheques to:
Indian Rett Syndrome Foundation
128, Vikas Kunj, Vikas Puri, New Delhi – 110018
Deposit them in State Bank of India with information to us at firstname.lastname@example.org and cc to email@example.com
Account no: 31265890239 BANK: STATE BANK OF INDIA BRANCH: SAKET, New Delhi IFSC CODE: SBIN0008442
Dr.Rajni Khajuria – 9999343421 President: Samir Sethi – 9810331197 Secretary: Harsh Malhotra – 9313651603