Saturday February 16, 2019

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

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Photo Credit: Elizabeth Halford

 

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.”

  • Thank you so much for helping the cause of Rett syndrome. We are grateful to you to bring the focus on silent angels.

Next Story

Can Medical Cannabis Help Autistic Children?

The Council of Scientific and Industrial Research (CSIR) is doing a research on the medicinal use of cannabis for treating diseases like cancer, epilepsy and sickle cell anaemia.

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Uninsured Children, U.S.
The Council of Scientific and Industrial Research (CSIR) is doing a research on the medicinal use of cannabis for treating diseases like cancer, epilepsy and sickle cell anaemia. VOA

Cannabis treatment for teenage patients with autism is well-tolerated, safe and effective option to relieve symptoms including seizures, tics, depression, restlessness, researchers say.

The study found that after six months of treatment, 30 per cent of patients reported a significant improvement, 53.7 per cent reported moderate improvement and only 15 per cent had slight or no change.

“Overall, more than 80 per cent of the parents reported significant or moderate improvement in their child,” said co-author Lihi Bar-Lev Schleider from the Ben-Gurion University of the Negev in Israel.

Autistic Spectrum Disorder (ASD) is an extensive developmental disorder that is expressed in almost all dimensions of the child’s development.

It is now common to refer to this disorder as a wide range of Pervasive Developmental Disorders (PDD) in which there are various manifestations and symptoms.

1.4 lakh people from India participate in Haj every year. Pixabay
 Autistic Spectrum Disorder (ASD) is an extensive developmental disorder that is expressed in almost all dimensions of the child’s development  . Pixabay

For the study, published in the journal Scientific Reports, the team analysed the data prospectively collected as part of the treatment programme of 188 ASD patients treated with medical cannabis between 2015 and 2017.

The treatment in majority of the patients was based on cannabis oil containing 30 per cent cannabidiol oil (CBD) and 1.5 per cent tetrahydrocannabinol (THC).

Good quality of life was reported by 31.3 per cent of patients prior to treatment initiation. At six months, good quality of life more than doubled for 66.8 per cent.

Positive mood was reported by 42 per cent before treatment and 63.5 after six months.

Victimization in early school days leads to anxiety. Pixabay
Good quality of life was reported by 31.3 per cent of patients prior to treatment initiation. At six months, good quality of life more than doubled for 66.8 per cent. Pixabay

“While this study suggest that cannabis treatment is safe and can improve ASD symptoms and improve ASD patients’ quality of life, we believe that double blind placebo-controlled trials are crucial for a better understanding…” said co-author Victor Novack from the varsity.

Also Read:Cancer May Lead to Premature Ageing, Says Study

The Council of Scientific and Industrial Research (CSIR) is doing a research on the medicinal use of cannabis for treating diseases like cancer, epilepsy and sickle cell anaemia.

In the US, medical marijuana is legal in 30 states, though the laws governing what is permitted vary from state to state, according to the National Conference of State Legislatures.(IANS)