Raising Rett Syndrome awareness: A glimpse into the world of ‘Silent Angels’

By Shilpika Srivastava

Imagine being not able to walk or even talk. How would you feel if you're not able to grab your favorite cookie, or even worse, not even eat it? Imagine being locked in. Well, the pain that you can sense is just a tip of the iceberg.

There are many children on this earth who are leading a challenging life every day due to Rett Syndrome (RTT). Rett Syndrome is a rare genetic neurological disease disorder that predominantly affects girls. And, if it affects boys, it results in early death.

With the help of Social Media, NewsGram reached out to a mother of a beautiful girl, Radhika, who is suffering from RTT. "It broke me when I saw her crying and screaming all night due to her regression phase of Rett. I don't have words to express the feeling of helplessness, desperation and sheer hopelessness," she said.

Radhika's mother's pain is evident and it seems like it's a never ending journey for her.

Dr. Munish Raizada, a pediatrician and neonatologist based out of Chicago, says that it is disheartening that Rett occurs in 1 girl on every 10,000 female births, and yet awareness of Rett remains painfully low among the general public. In fact, the scene turns ugly as the medical community of India also does not have much clue about Rett Syndrome.

Indian Rett Syndrome Foundation (IRSF) is working profusely to raise public and professional awareness and understanding about the Rett Syndrome. It provides correct information describing diagnosis, causes, therapies, research and other aspects of this disorder.

NewsGram had an in-depth telephonic conversation with Samir Sethi, president of IRSF, who said that RTT is a mutation in the genes, which occurs naturally. RTT does not have any particular cause for it. The secretary of the foundation, Harsh Malhotra, who is also a father of a pretty daughter suffering from the syndrome, said that during the pregnancy itself, the mutation starts taking place in the DNA of the baby.

How RTT is diagnosed and what are its symptoms?

"There are two ways to diagnose it: Clinically and through a genetic test. However, both the tests have to go hand in hand to confirm the diagnosis," said Mr. Sethi.

He further explained that the children dealing with RTT grow at a normal pace from 6 to 18 months. These children are the ones who have missed their milestones. A normal child is supposed to start sitting at about six months. However, when a girl is suspected of suffering from RTT, it is likely that she may not start to maintain her balance while sitting until about 9 months or 12 months. Therefore, instead of picking up the milestones, the child is actually going backwards and missing out on the learning, which turn out to be the first indication of RTT.

"The second indication is regression in the growth of the head circumference. Parents should notice that the head circumference of such children does not grow as a normal child as per the age," added Mr. Sethi.

Thirdly, the child starts getting aloof. Normally, children at this particular age are very social. They mix with everybody, they play, they run around. RTT girls will behave differently. They will cry. They will be cranky. They will not like to interact with anybody. A lot of RTT's symptoms are quite similar to that of autism.

Mr. Malhotra told NewsGram that there is one strange observation related to Rett Syndrome: they are very happy children despite the daily challenges, and for some reasons, they are also blessed with good looks. These are the reasons that Rett Children are known as 'Silent Angels' all over the world.

How is RTT different than autism?

"Autism is very different from RTT. In many cases of autism, you will not find any physical disability. But in RTT, you will find physical disability in almost every child," stated Mr. Sethi.

He said that girls diagnosed with Rett Syndrome will not be able to walk. They cannot even speak whereas the autistic children are able to speak. It is very rare for a Rett child to talk.

One typical symptom of girls dealing with the syndrome is hand wringing. They will indulge in stereotypical hand movements and continuously rub their palms.

Is RTT curable?

As of now, there is no cure available for the disease. The only thing that can be done at the present moment is extensive rehabilitation, and physical and occupational therapy. However, there is a ray of hope as a lot of research is ongoing to find the cure of Rett Syndrome.

RTT does not cause death in girls!

Speaking about the life expectancy rate of Rett Syndrome, Mr. Sethi told NewsGram that RTT in itself does not cause mortality. However, it is the complexities from RTT that lead to that makes the girls to lose out on their life.

Such children have a tendency to hold their breath for quite a long time as compared to normal children. This, at times, causes suffocation. In addition, they also have problems in terms of digestion. Many times, the food that should go into the food pipe instead goes into their lungs and causes choking.

"We have not heard of any case where a child dies because of RTT. It's mostly the problems and complexities that come with Rett that cause the fatality," says Mr. Sethi.

"One very stubborn problem that Rett children have is of pneumonia. A normal child is able to cough out the infection, but children suffering from the syndrome are not capable of coughing out the infection, which leads to accumulation of infection in the lungs. This is a major problem with Rett children resulting in deaths. On the other hand, as these children are also epileptic, it leads to seizures. It gets so worse at times that an emergency care is needed, and sadly there is none in India, and we lost a few girls like that," expressed Mr. Malhotra.

How IRSF is trying to help the parents and create awareness about Rett Syndrome?

Mr. Sethi said that it is difficult for parents to coordinate with another doctor for a particular thing. For instance, Rett children also deal with epilepsy. A doctor may give one particular medicine for epilepsy; however, that drug might affect the child's digestion. Therefore, there is a need of a consultation from a gastroenterologist as well. Therefore, IRSF is trying to bring the parents, care takers and doctors under one umbrella.

IRSF operates an annual program to create awareness about Rett Syndrome. They also visit hospitals and educate the doctors so that the moment they get any children like these, they can refer them to the foundation.

"We are working with ministry of social justice, Delhi government's Department of Health and Family welfare. A disability certificate is required for all of the children suffering from RTT, and it is in the hand of government to issue the certificates. Also, it's government's responsibility to issue health insurances for these children. We are coordinating with the government to provide all these things," added Mr. Sethi.

Mr. Malhotra tagged on that, "We are working with All India Institute of Medical Sciences , LNJP Hospital, GB Pant Hospital. The key concern is that the local doctors, who are the first point of contact for the parents, do not have a clue about RTT. Therefore, the syndrome often gets misdiagnosed as autism or other neurological diseases."